• Gene id: 338

Gene Summary

• Gene Symbol: APOB   Gene   UCSC   Ensembl
• Aliases: FLDB, LDLCQ4, apoB-100, apoB-48
• Gene name: apolipoprotein B
• Alternate names: apolipoprotein B-100, apolipoprotein B (including Ag(x) antigen), apolipoprotein B48,
• Gene location: 2p24.1 (21044072: 21001428)     Exons: 29     NC_000002.12
• Gene summary(Entrez): This gene product is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100: the former is synthesized exclusively in the gut and the latter in the liver. The intestinal and the
• OMIM: 107730

SNPs

rs5498

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.10285007A>G
NC_000019.9   g.10395683A>G
NG_012083.1   g.19167A>G
NM_000201.3   c.1405A>G
NM_000201.2   c.1405A>G
NG_007728.1   g.3034A>G
NP_000192.2   p.Lys469Glu|SEQ=[A/G]|GENE=ICAM1
ICAM4   3386

Protein Summary

• Protein general information: P04114  
  • Name: Apolipoprotein B 100 (Apo B 100) [Cleaved into: Apolipoprotein B 48 (Apo B 48)]
  • Length: 4563  
  • Mass: 515,605
• Sequence:

  MDPPRPALLALLALPALLLLLLAGARAEEEMLENVSLVCPKDATRFKHLRKYTYNYEAESSSGVPGTADSRSATR
  INCKVELEVPQLCSFILKTSQCTLKEVYGFNPEGKALLKKTKNSEEFAAAMSRYELKLAIPEGKQVFLYPEKDEP
  TYILNIKRGIISALLVPPETEEAKQVLFLDTVYGNCSTHFTVKTRKGNVATEISTERDLGQCDRFKPIRTGISPL
  ALIKGMTRPLSTLISSSQSCQYTLDAKRKHVAEAICKEQHLFLPFSYKNKYGMVAQVTQTLKLEDTPKINSRFFG
  EGTKKMGLAFESTKSTSPPKQAEAVLKTLQELKKLTISEQNIQRANLFNKLVTELRGLSDEAVTSLLPQLIEVSS
  PITLQALVQCGQPQCSTHILQWLKRVHANPLLIDVVTYLVALIPEPSAQQLREIFNMARDQRSRATLYALSHAVN
  NYHKTNPTGTQELLDIANYLMEQIQDDCTGDEDYTYLILRVIGNMGQTMEQLTPELKSSILKCVQSTKPSLMIQK
  AAIQALRKMEPKDKDQEVLLQTFLDDASPGDKRLAAYLMLMRSPSQADINKIVQILPWEQNEQVKNFVASHIANI
  LNSEELDIQDLKKLVKEALKESQLPTVMDFRKFSRNYQLYKSVSLPSLDPASAKIEGNLIFDPNNYLPKESMLKT
  TLTAFGFASADLIEIGLEGKGFEPTLEALFGKQGFFPDSVNKALYWVNGQVPDGVSKVLVDHFGYTKDDKHEQDM
  VNGIMLSVEKLIKDLKSKEVPEARAYLRILGEELGFASLHDLQLLGKLLLMGARTLQGIPQMIGEVIRKGSKNDF
  FLHYIFMENAFELPTGAGLQLQISSSGVIAPGAKAGVKLEVANMQAELVAKPSVSVEFVTNMGIIIPDFARSGVQ
  MNTNFFHESGLEAHVALKAGKLKFIIPSPKRPVKLLSGGNTLHLVSTTKTEVIPPLIENRQSWSVCKQVFPGLNY
  CTSGAYSNASSTDSASYYPLTGDTRLELELRPTGEIEQYSVSATYELQREDRALVDTLKFVTQAEGAKQTEATMT
  FKYNRQSMTLSSEVQIPDFDVDLGTILRVNDESTEGKTSYRLTLDIQNKKITEVALMGHLSCDTKEERKIKGVIS
  IPRLQAEARSEILAHWSPAKLLLQMDSSATAYGSTVSKRVAWHYDEEKIEFEWNTGTNVDTKKMTSNFPVDLSDY
  PKSLHMYANRLLDHRVPQTDMTFRHVGSKLIVAMSSWLQKASGSLPYTQTLQDHLNSLKEFNLQNMGLPDFHIPE
  NLFLKSDGRVKYTLNKNSLKIEIPLPFGGKSSRDLKMLETVRTPALHFKSVGFHLPSREFQVPTFTIPKLYQLQV
  PLLGVLDLSTNVYSNLYNWSASYSGGNTSTDHFSLRARYHMKADSVVDLLSYNVQGSGETTYDHKNTFTLSYDGS
  LRHKFLDSNIKFSHVEKLGNNPVSKGLLIFDASSSWGPQMSASVHLDSKKKQHLFVKEVKIDGQFRVSSFYAKGT
  YGLSCQRDPNTGRLNGESNLRFNSSYLQGTNQITGRYEDGTLSLTSTSDLQSGIIKNTASLKYENYELTLKSDTN
  GKYKNFATSNKMDMTFSKQNALLRSEYQADYESLRFFSLLSGSLNSHGLELNADILGTDKINSGAHKATLRIGQD
  GISTSATTNLKCSLLVLENELNAELGLSGASMKLTTNGRFREHNAKFSLDGKAALTELSLGSAYQAMILGVDSKN
  IFNFKVSQEGLKLSNDMMGSYAEMKFDHTNSLNIAGLSLDFSSKLDNIYSSDKFYKQTVNLQLQPYSLVTTLNSD
  LKYNALDLTNNGKLRLEPLKLHVAGNLKGAYQNNEIKHIYAISSAALSASYKADTVAKVQGVEFSHRLNTDIAGL
  ASAIDMSTNYNSDSLHFSNVFRSVMAPFTMTIDAHTNGNGKLALWGEHTGQLYSKFLLKAEPLAFTFSHDYKGST
  SHHLVSRKSISAALEHKVSALLTPAEQTGTWKLKTQFNNNEYSQDLDAYNTKDKIGVELTGRTLADLTLLDSPIK
  VPLLLSEPINIIDALEMRDAVEKPQEFTIVAFVKYDKNQDVHSINLPFFETLQEYFERNRQTIIVVLENVQRNLK
  HINIDQFVRKYRAALGKLPQQANDYLNSFNWERQVSHAKEKLTALTKKYRITENDIQIALDDAKINFNEKLSQLQ
  TYMIQFDQYIKDSYDLHDLKIAIANIIDEIIEKLKSLDEHYHIRVNLVKTIHDLHLFIENIDFNKSGSSTASWIQ
  NVDTKYQIRIQIQEKLQQLKRHIQNIDIQHLAGKLKQHIEAIDVRVLLDQLGTTISFERINDILEHVKHFVINLI
  GDFEVAEKINAFRAKVHELIERYEVDQQIQVLMDKLVELAHQYKLKETIQKLSNVLQQVKIKDYFEKLVGFIDDA
  VKKLNELSFKTFIEDVNKFLDMLIKKLKSFDYHQFVDETNDKIREVTQRLNGEIQALELPQKAEALKLFLEETKA
  TVAVYLESLQDTKITLIINWLQEALSSASLAHMKAKFRETLEDTRDRMYQMDIQQELQRYLSLVGQVYSTLVTYI
  SDWWTLAAKNLTDFAEQYSIQDWAKRMKALVEQGFTVPEIKTILGTMPAFEVSLQALQKATFQTPDFIVPLTDLR
  IPSVQINFKDLKNIKIPSRFSTPEFTILNTFHIPSFTIDFVEMKVKIIRTIDQMLNSELQWPVPDIYLRDLKVED
  IPLARITLPDFRLPEIAIPEFIIPTLNLNDFQVPDLHIPEFQLPHISHTIEVPTFGKLYSILKIQSPLFTLDANA
  DIGNGTTSANEAGIAASITAKGESKLEVLNFDFQANAQLSNPKINPLALKESVKFSSKYLRTEHGSEMLFFGNAI
  EGKSNTVASLHTEKNTLELSNGVIVKINNQLTLDSNTKYFHKLNIPKLDFSSQADLRNEIKTLLKAGHIAWTSSG
  KGSWKWACPRFSDEGTHESQISFTIEGPLTSFGLSNKINSKHLRVNQNLVYESGSLNFSKLEIQSQVDSQHVGHS
  VLTAKGMALFGEGKAEFTGRHDAHLNGKVIGTLKNSLFFSAQPFEITASTNNEGNLKVRFPLRLTGKIDFLNNYA
  LFLSPSAQQASWQVSARFNQYKYNQNFSAGNNENIMEAHVGINGEANLDFLNIPLTIPEMRLPYTIITTPPLKDF
  SLWEKTGLKEFLKTTKQSFDLSVKAQYKKNKHRHSITNPLAVLCEFISQSIKSFDRHFEKNRNNALDFVTKSYNE
  TKIKFDKYKAEKSHDELPRTFQIPGYTVPVVNVEVSPFTIEMSAFGYVFPKAVSMPSFSILGSDVRVPSYTLILP
  SLELPVLHVPRNLKLSLPDFKELCTISHIFIPAMGNITYDFSFKSSVITLNTNAELFNQSDIVAHLLSSSSSVID
  ALQYKLEGTTRLTRKRGLKLATALSLSNKFVEGSHNSTVSLTTKNMEVSVATTTKAQIPILRMNFKQELNGNTKS
  KPTVSSSMEFKYDFNSSMLYSTAKGAVDHKLSLESLTSYFSIESSTKGDVKGSVLSREYSGTIASEANTYLNSKS
  TRSSVKLQGTSKIDDIWNLEVKENFAGEATLQRIYSLWEHSTKNHLQLEGLFFTNGEHTSKATLELSPWQMSALV
  QVHASQPSSFHDFPDLGQEVALNANTKNQKIRWKNEVRIHSGSFQSQVELSNDQEKAHLDIAGSLEGHLRFLKNI
  ILPVYDKSLWDFLKLDVTTSIGRRQHLRVSTAFVYTKNPNGYSFSIPVKVLADKFIIPGLKLNDLNSVLVMPTFH
  VPFTDLQVPSCKLDFREIQIYKKLRTSSFALNLPTLPEVKFPEVDVLTKYSQPEDSLIPFFEITVPESQLTVSQF
  TLPKSVSDGIAALDLNAVANKIADFELPTIIVPEQTIEIPSIKFSVPAGIVIPSFQALTARFEVDSPVYNATWSA
  SLKNKADYVETVLDSTCSSTVQFLEYELNVLGTHKIEDGTLASKTKGTFAHRDFSAEYEEDGKYEGLQEWEGKAH
  LNIKSPAFTDLHLRYQKDKKGISTSAASPAVGTVGMDMDEDDDFSKWNFYYSPQSSPDKKLTIFKTELRVRESDE
  ETQIKVNWEEEAASGLLTSLKDNVPKATGVLYDYVNKYHWEHTGLTLREVSSKLRRNLQNNAEWVYQGAIRQIDD
  IDVRFQKAASGTTGTYQEWKDKAQNLYQELLTQEGQASFQGLKDNVFDGLVRVTQEFHMKVKHLIDSLIDFLNFP
  RFQFPGKPGIYTREELCTMFIREVGTVLSQVYSKVHNGSEILFSYFQDLVITLPFELRKHKLIDVISMYRELLKD
  LSKEAQEVFKAIQSLKTTEVLRNLQDLLQFIFQLIEDNIKQLKEMKFTYLINYIQDEINTIFSDYIPYVFKLLKE
  NLCLNLHKFNEFIQNELQEASQELQQIHQYIMALREEYFDPSIVGWTVKYYELEEKIVSLIKNLLVALKDFHSEY
  IVSASNFTSQLSSQVEQFLHRNIQEYLSILTDPDGKGKEKIAELSATAQEIIKSQAIATKKIISDYHQQFRYKLQ
  DFSDQLSDYYEKFIAESKRLIDLSIQNYHTFLIYITELLKKLQSTTVMNPYMKLAPGELTIIL

• Structural information:
  • Protein Domains: Vitellogenin. (46-672)
  • Interpro: IPR022176  IPR016024  IPR015819  IPR001747  IPR009454   IPR011030  IPR015816  IPR015255  
  • Prosite: PS51211
  • DIP: 44767
  • STRING: ENSP00000233242
• Other Databases: GeneCards:  APOB  Malacards:  APOB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001523	retinoid metabolic process	TAS	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005543	phospholipid binding	IDA	molecular function
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	ISS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005769	early endosome	TAS	cellular component
GO:0005769	early endosome	TAS	cellular component
GO:0005769	early endosome	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006642	triglyceride mobilization	IEA	biological process
GO:0006898	receptor-mediated endocytosis	TAS	biological process
GO:0006898	receptor-mediated endocytosis	TAS	biological process
GO:0006898	receptor-mediated endocytosis	TAS	biological process
GO:0006898	receptor-mediated endocytosis	TAS	biological process
GO:0006898	receptor-mediated endocytosis	TAS	biological process
GO:0006898	receptor-mediated endocytosis	TAS	biological process
GO:0006898	receptor-mediated endocytosis	TAS	biological process
GO:0006898	receptor-mediated endocytosis	TAS	biological process
GO:0006898	receptor-mediated endocytosis	TAS	biological process
GO:0006898	receptor-mediated endocytosis	TAS	biological process
GO:0006898	receptor-mediated endocytosis	TAS	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0008201	heparin binding	IDA	molecular function
GO:0008203	cholesterol metabolic process	IMP	biological process
GO:0009566	fertilization	IEA	biological process
GO:0009615	response to virus	IEP	biological process
GO:0009743	response to carbohydrate	IEA	biological process
GO:0009791	post-embryonic development	IEA	biological process
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010269	response to selenium ion	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0010744	positive regulation of macrophage derived foam cell differentiation	IDA	biological process
GO:0010744	positive regulation of macrophage derived foam cell differentiation	IDA	biological process
GO:0010744	positive regulation of macrophage derived foam cell differentiation	IDA	biological process
GO:0010884	positive regulation of lipid storage	IDA	biological process
GO:0010886	positive regulation of cholesterol storage	IDA	biological process
GO:0015629	actin cytoskeleton	IDA	cellular component
GO:0017127	cholesterol transporter activity	IMP	molecular function
GO:0019433	triglyceride catabolic process	IEA	biological process
GO:0030301	cholesterol transport	IMP	biological process
GO:0030317	flagellated sperm motility	IEA	biological process
GO:0030669	clathrin-coated endocytic vesicle membrane	TAS	cellular component
GO:0030669	clathrin-coated endocytic vesicle membrane	TAS	cellular component
GO:0030669	clathrin-coated endocytic vesicle membrane	TAS	cellular component
GO:0031904	endosome lumen	TAS	cellular component
GO:0032496	response to lipopolysaccharide	IEA	biological process
GO:0033344	cholesterol efflux	IEA	biological process
GO:0034359	mature chylomicron	IDA	cellular component
GO:0034360	chylomicron remnant	TAS	cellular component
GO:0034361	very-low-density lipoprotein particle	IDA	cellular component
GO:0034361	very-low-density lipoprotein particle	IDA	cellular component
GO:0034362	low-density lipoprotein particle	IDA	cellular component
GO:0034363	intermediate-density lipoprotein particle	IDA	cellular component
GO:0034374	low-density lipoprotein particle remodeling	IMP	biological process
GO:0034379	very-low-density lipoprotein particle assembly	IC	biological process
GO:0034383	low-density lipoprotein particle clearance	IMP	biological process
GO:0034383	low-density lipoprotein particle clearance	IMP	biological process
GO:0035473	lipase binding	IPI	molecular function
GO:0042157	lipoprotein metabolic process	TAS	biological process
GO:0042157	lipoprotein metabolic process	TAS	biological process
GO:0042158	lipoprotein biosynthetic process	TAS	biological process
GO:0042158	lipoprotein biosynthetic process	TAS	biological process
GO:0042158	lipoprotein biosynthetic process	TAS	biological process
GO:0042159	lipoprotein catabolic process	TAS	biological process
GO:0042627	chylomicron	IDA	cellular component
GO:0042627	chylomicron	IDA	cellular component
GO:0042632	cholesterol homeostasis	IMP	biological process
GO:0042953	lipoprotein transport	IEA	biological process
GO:0043025	neuronal cell body	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	TAS	cellular component
GO:0044257	cellular protein catabolic process	TAS	biological process
GO:0045540	regulation of cholesterol biosynthetic process	IEA	biological process
GO:0048844	artery morphogenesis	IEA	biological process
GO:0050750	low-density lipoprotein particle receptor binding	IMP	molecular function
GO:0050750	low-density lipoprotein particle receptor binding	IMP	molecular function
GO:0050900	leukocyte migration	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0071356	cellular response to tumor necrosis factor	IEA	biological process
GO:0071379	cellular response to prostaglandin stimulus	IEA	biological process
GO:0071682	endocytic vesicle lumen	TAS	cellular component
GO:0071682	endocytic vesicle lumen	TAS	cellular component
GO:0071682	endocytic vesicle lumen	TAS	cellular component
GO:0071682	endocytic vesicle lumen	TAS	cellular component
GO:0071682	endocytic vesicle lumen	TAS	cellular component
GO:0071682	endocytic vesicle lumen	TAS	cellular component
GO:0071682	endocytic vesicle lumen	TAS	cellular component
GO:0001523	retinoid metabolic process	TAS	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0005319	lipid transporter activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005543	phospholipid binding	IDA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0005615	extracellular space	ISS	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005769	early endosome	TAS	cellular component
GO:0005769	early endosome	TAS	cellular component
GO:0005769	early endosome	TAS	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0006642	triglyceride mobilization	IEA	biological process
GO:0006810	transport	IEA	biological process
GO:0006869	lipid transport	IEA	biological process
GO:0006869	lipid transport	IEA	biological process
GO:0006898	receptor-mediated endocytosis	TAS	biological process
GO:0006898	receptor-mediated endocytosis	TAS	biological process
GO:0006898	receptor-mediated endocytosis	TAS	biological process
GO:0006898	receptor-mediated endocytosis	TAS	biological process
GO:0006898	receptor-mediated endocytosis	TAS	biological process
GO:0006898	receptor-mediated endocytosis	TAS	biological process
GO:0006898	receptor-mediated endocytosis	TAS	biological process
GO:0006898	receptor-mediated endocytosis	TAS	biological process
GO:0006898	receptor-mediated endocytosis	TAS	biological process
GO:0006898	receptor-mediated endocytosis	TAS	biological process
GO:0006898	receptor-mediated endocytosis	TAS	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0008201	heparin binding	IEA	molecular function
GO:0008201	heparin binding	IDA	molecular function
GO:0008202	steroid metabolic process	IEA	biological process
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0008203	cholesterol metabolic process	IMP	biological process
GO:0008289	lipid binding	IEA	molecular function
GO:0009566	fertilization	IEA	biological process
GO:0009615	response to virus	IEP	biological process
GO:0009743	response to carbohydrate	IEA	biological process
GO:0009791	post-embryonic development	IEA	biological process
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010033	response to organic substance	IEA	biological process
GO:0010269	response to selenium ion	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0010744	positive regulation of macrophage derived foam cell differentiation	IDA	biological process
GO:0010744	positive regulation of macrophage derived foam cell differentiation	IDA	biological process
GO:0010744	positive regulation of macrophage derived foam cell differentiation	IDA	biological process
GO:0010884	positive regulation of lipid storage	IDA	biological process
GO:0010886	positive regulation of cholesterol storage	IDA	biological process
GO:0012506	vesicle membrane	IEA	cellular component
GO:0015629	actin cytoskeleton	IDA	cellular component
GO:0016042	lipid catabolic process	IEA	biological process
GO:0017127	cholesterol transporter activity	IMP	molecular function
GO:0019433	triglyceride catabolic process	IEA	biological process
GO:0030301	cholesterol transport	IEA	biological process
GO:0030301	cholesterol transport	IMP	biological process
GO:0030317	flagellated sperm motility	IEA	biological process
GO:0030669	clathrin-coated endocytic vesicle membrane	TAS	cellular component
GO:0030669	clathrin-coated endocytic vesicle membrane	TAS	cellular component
GO:0030669	clathrin-coated endocytic vesicle membrane	TAS	cellular component
GO:0031904	endosome lumen	TAS	cellular component
GO:0031983	vesicle lumen	IEA	cellular component
GO:0032496	response to lipopolysaccharide	IEA	biological process
GO:0033344	cholesterol efflux	IEA	biological process
GO:0034359	mature chylomicron	IDA	cellular component
GO:0034360	chylomicron remnant	TAS	cellular component
GO:0034361	very-low-density lipoprotein particle	IEA	cellular component
GO:0034361	very-low-density lipoprotein particle	IEA	cellular component
GO:0034361	very-low-density lipoprotein particle	IDA	cellular component
GO:0034361	very-low-density lipoprotein particle	IDA	cellular component
GO:0034362	low-density lipoprotein particle	IEA	cellular component
GO:0034362	low-density lipoprotein particle	IDA	cellular component
GO:0034363	intermediate-density lipoprotein particle	IDA	cellular component
GO:0034374	low-density lipoprotein particle remodeling	IMP	biological process
GO:0034379	very-low-density lipoprotein particle assembly	IC	biological process
GO:0034383	low-density lipoprotein particle clearance	IMP	biological process
GO:0034383	low-density lipoprotein particle clearance	IMP	biological process
GO:0035473	lipase binding	IPI	molecular function
GO:0042157	lipoprotein metabolic process	IEA	biological process
GO:0042157	lipoprotein metabolic process	TAS	biological process
GO:0042157	lipoprotein metabolic process	TAS	biological process
GO:0042158	lipoprotein biosynthetic process	IEA	biological process
GO:0042158	lipoprotein biosynthetic process	TAS	biological process
GO:0042158	lipoprotein biosynthetic process	TAS	biological process
GO:0042158	lipoprotein biosynthetic process	TAS	biological process
GO:0042159	lipoprotein catabolic process	IEA	biological process
GO:0042159	lipoprotein catabolic process	TAS	biological process
GO:0042627	chylomicron	IEA	cellular component
GO:0042627	chylomicron	IDA	cellular component
GO:0042627	chylomicron	IDA	cellular component
GO:0042632	cholesterol homeostasis	IEA	biological process
GO:0042632	cholesterol homeostasis	IMP	biological process
GO:0042953	lipoprotein transport	IEA	biological process
GO:0043025	neuronal cell body	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	TAS	cellular component
GO:0044257	cellular protein catabolic process	TAS	biological process
GO:0045540	regulation of cholesterol biosynthetic process	IEA	biological process
GO:0048844	artery morphogenesis	IEA	biological process
GO:0050750	low-density lipoprotein particle receptor binding	IMP	molecular function
GO:0050750	low-density lipoprotein particle receptor binding	IMP	molecular function
GO:0050900	leukocyte migration	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0071356	cellular response to tumor necrosis factor	IEA	biological process
GO:0071379	cellular response to prostaglandin stimulus	IEA	biological process
GO:0071682	endocytic vesicle lumen	TAS	cellular component
GO:0071682	endocytic vesicle lumen	TAS	cellular component
GO:0071682	endocytic vesicle lumen	TAS	cellular component
GO:0071682	endocytic vesicle lumen	TAS	cellular component
GO:0071682	endocytic vesicle lumen	TAS	cellular component
GO:0071682	endocytic vesicle lumen	TAS	cellular component
GO:0071682	endocytic vesicle lumen	TAS	cellular component
GO:0001523	retinoid metabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005543	phospholipid binding	IDA	molecular function
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	ISS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005769	early endosome	TAS	cellular component
GO:0005769	early endosome	TAS	cellular component
GO:0005769	early endosome	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006898	receptor-mediated endocytosis	TAS	biological process
GO:0006898	receptor-mediated endocytosis	TAS	biological process
GO:0006898	receptor-mediated endocytosis	TAS	biological process
GO:0006898	receptor-mediated endocytosis	TAS	biological process
GO:0006898	receptor-mediated endocytosis	TAS	biological process
GO:0006898	receptor-mediated endocytosis	TAS	biological process
GO:0006898	receptor-mediated endocytosis	TAS	biological process
GO:0006898	receptor-mediated endocytosis	TAS	biological process
GO:0006898	receptor-mediated endocytosis	TAS	biological process
GO:0006898	receptor-mediated endocytosis	TAS	biological process
GO:0006898	receptor-mediated endocytosis	TAS	biological process
GO:0008201	heparin binding	IDA	molecular function
GO:0008203	cholesterol metabolic process	IMP	biological process
GO:0009615	response to virus	IEP	biological process
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010744	positive regulation of macrophage derived foam cell differentiation	IDA	biological process
GO:0010744	positive regulation of macrophage derived foam cell differentiation	IDA	biological process
GO:0010744	positive regulation of macrophage derived foam cell differentiation	IDA	biological process
GO:0010884	positive regulation of lipid storage	IDA	biological process
GO:0010886	positive regulation of cholesterol storage	IDA	biological process
GO:0015629	actin cytoskeleton	IDA	cellular component
GO:0017127	cholesterol transporter activity	IMP	molecular function
GO:0030301	cholesterol transport	IMP	biological process
GO:0030669	clathrin-coated endocytic vesicle membrane	TAS	cellular component
GO:0030669	clathrin-coated endocytic vesicle membrane	TAS	cellular component
GO:0030669	clathrin-coated endocytic vesicle membrane	TAS	cellular component
GO:0031904	endosome lumen	TAS	cellular component
GO:0034359	mature chylomicron	IDA	cellular component
GO:0034360	chylomicron remnant	TAS	cellular component
GO:0034361	very-low-density lipoprotein particle	IDA	cellular component
GO:0034361	very-low-density lipoprotein particle	IDA	cellular component
GO:0034362	low-density lipoprotein particle	IDA	cellular component
GO:0034363	intermediate-density lipoprotein particle	IDA	cellular component
GO:0034374	low-density lipoprotein particle remodeling	IMP	biological process
GO:0034379	very-low-density lipoprotein particle assembly	IC	biological process
GO:0034383	low-density lipoprotein particle clearance	IMP	biological process
GO:0034383	low-density lipoprotein particle clearance	IMP	biological process
GO:0035473	lipase binding	IPI	molecular function
GO:0042157	lipoprotein metabolic process	TAS	biological process
GO:0042157	lipoprotein metabolic process	TAS	biological process
GO:0042158	lipoprotein biosynthetic process	TAS	biological process
GO:0042158	lipoprotein biosynthetic process	TAS	biological process
GO:0042158	lipoprotein biosynthetic process	TAS	biological process
GO:0042159	lipoprotein catabolic process	TAS	biological process
GO:0042627	chylomicron	IDA	cellular component
GO:0042627	chylomicron	IDA	cellular component
GO:0042632	cholesterol homeostasis	IMP	biological process
GO:0043025	neuronal cell body	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	TAS	cellular component
GO:0044257	cellular protein catabolic process	TAS	biological process
GO:0050750	low-density lipoprotein particle receptor binding	IMP	molecular function
GO:0050750	low-density lipoprotein particle receptor binding	IMP	molecular function
GO:0050900	leukocyte migration	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0071682	endocytic vesicle lumen	TAS	cellular component
GO:0071682	endocytic vesicle lumen	TAS	cellular component
GO:0071682	endocytic vesicle lumen	TAS	cellular component
GO:0071682	endocytic vesicle lumen	TAS	cellular component
GO:0071682	endocytic vesicle lumen	TAS	cellular component
GO:0071682	endocytic vesicle lumen	TAS	cellular component
GO:0071682	endocytic vesicle lumen	TAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04975	Fat digestion and absorption
hsa04979	Cholesterol metabolism
hsa04977	Vitamin digestion and absorption

Diseases

Associated diseases	References
Cancer	GAD: 11341749
Cancer (bladder)	GAD: 19692168
Cancer (gallbladder)	GAD: 14618390
Cancer (lung)	GAD: 19170196
Cancer (lymphoma)	GAD: 18636124
Angina pectoris	GAD: 18927546
Apoplexy	GAD: 15321839
Atherosclerosis	GAD: 12818419
Brain ischemia	GAD: 19131662
Cardiovascular disease	GAD: 11975906
Cardiovascular disease	GAD: 12082592
Carotid artery diseases	GAD: 15823278
Carotid artery diseases	GAD: 12082592
Cerebral hemorrhage	GAD: 18393233
Hypertension	GAD: 12544508
Cerebral infarction	GAD: 19257963
Peripheral arterial disease	GAD: 1676938
Restenosis	GAD: 12082592
Thrombosis	GAD: 19072566
Familial hyperbetalipoproteinaemia	GAD: 3473077
Familial hypobetalipoproteinemia	GAD: 3473077
Familial hypercholesterolaemia	KEGG: H00155
Holoprosencephaly	GAD: 11857554
Cleft defects	GAD: 20634891
Gallbladder diseases	GAD: 17350490
Anemia	GAD: 20425806
Thrombophilia	GAD: 14706682
Inflammatory bowel disease	GAD: 17111197
Cholelithiasis	GAD: 15133863
Diabetes	GAD: 2562831
Diabetes	GAD: 12082592
Familial defective apolipoprotein B	GAD: 2563166
Hyperlipidemia	GAD: 16201717
Hypertriglyceridemia	GAD: 20657596
Metabolic syndrome	GAD: 19056482
Hypertriglyceridemia	GAD: 20657596
Hyperlipoproteinemia	GAD: 18940289
Obesity	GAD: 19772655
Insulin resistance	GAD: 17349073
Fredrickson hyperlipoproteinemia	GAD: 19656773
Hypercholesterolemia	GAD: 15135251
Dyslipidemias	GAD: 18512131
Dyslipidemias	GAD: 18512131
Osteonecrosis	GAD: 17530370
Osteoporosis	GAD: 12082592
Alzheimer's disease	GAD: 19141999
Amyotrophic lateral sclerosis (ALS)	GAD: 18513389
Depression	GAD: 20800221
Psychological disorders	GAD: 20167577
Schizophrenia	GAD: 20691427
Chronic renal failure	GAD: 21085059
Abortion	GAD: 21039385
Asthenozoospermia	GAD: 17071710
Chorioamnionitis	GAD: 20452482
Erectile dysfunction	GAD: 20932654
Recurrent pregnancy loss (RPL)	GAD: 19906129
Hyperprolactinemia	INFBASE: 20137674
Female infertility	INFBASE: 20137674
Polycystic ovary syndrome (PCOS)	INFBASE: 22703625
Male factor infertility	MIK: 19578130
Chronic obstructive pulmonary disease (COPD)	GAD: 19625176
Calcinosis	GAD: 21059979
Ischemia	GAD: 11840804
Femur head necrosis	GAD: 19105467
Associated with male infertility	MIK: 8855280
Associated with spermatogenesis and epigenetic regulation	MIK: 21674046
Male infertility	MIK: 17071710
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
19578130	Male infertility	3-codon deletion polymorphism (rs11279109) in the signal peptide region of the APOB gene	Indian	545 (294 infertile, 251 fertile men)	Male infertility
17071710	Male infertility	insertion/deletion polymorphism	Slovene Caucas ian	560 (310 infertile patients (115 with azoospermia and 195 with oligoasthenoteratozoospermia (OAT)), 250 fertile men as controls)	Male infertility
8855280	Associated with male infertility				Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Associated with spermatogenesis and epigenetic regulation			18	Male infertility	GSE26881