• Gene id: 2194

Gene Summary

• Gene Symbol: FASN   Gene   UCSC   Ensembl
• Aliases: FAS, OA-519, SDR27X1
• Gene name: fatty acid synthase
• Alternate names: fatty acid synthase, short chain dehydrogenase/reductase family 27X, member 1,
• Gene location: 17q25.3 (82098302: 82078337)     Exons: 5     NC_000017.11
• Gene summary(Entrez): The enzyme encoded by this gene is a multifunctional protein. Its main function is to catalyze the synthesis of palmitate from acetyl-CoA and malonyl-CoA, in the presence of NADPH, into long-chain saturated fatty acids. In some cancer cell lines, this pro
• OMIM: 600212

SNPs

rs3212293

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

NC_000024.10   g.13479612C>G
NC_000024.10   g.13479612C>T
NC_000024.9   g.15591492C>G
NC_000024.9   g.15591492C>T
NM_007125.4   c.54G>C
NM_007125.4   c.54G>A
XM_006724875.4   c.54G>C
XM_006724875.4   c.54G>A
XM_005262518.4   c.54G>C
XM_005262518.4   c.54G>A
XM_005262518  

Protein Summary

• Protein general information: P49327  
  • Name: Fatty acid synthase (EC 2.3.1.85) [Includes: [Acyl carrier protein] S acetyltransferase (EC 2.3.1.38); [Acyl carrier protein] S malonyltransferase (EC 2.3.1.39); 3 oxoacyl [acyl carrier protein] synthase (EC 2.3.1.41); 3 oxoacyl [acyl carrier protein] red
  • Length: 2511  
  • Mass: 273427
  • Tissue specificity: Ubiquitous. Prominent expression in brain, lung, and liver. {ECO
• Sequence:

  MEEVVIAGMSGKLPESENLQEFWDNLIGGVDMVTDDDRRWKAGLYGLPRRSGKLKDLSRFDASFFGVHPKQAHTM
  DPQLRLLLEVTYEAIVDGGINPDSLRGTHTGVWVGVSGSETSEALSRDPETLVGYSMVGCQRAMMANRLSFFFDF
  RGPSIALDTACSSSLMALQNAYQAIHSGQCPAAIVGGINVLLKPNTSVQFLRLGMLSPEGTCKAFDTAGNGYCRS
  EGVVAVLLTKKSLARRVYATILNAGTNTDGFKEQGVTFPSGDIQEQLIRSLYQSAGVAPESFEYIEAHGTGTKVG
  DPQELNGITRALCATRQEPLLIGSTKSNMGHPEPASGLAALAKVLLSLEHGLWAPNLHFHSPNPEIPALLDGRLQ
  VVDQPLPVRGGNVGINSFGFGGSNVHIILRPNTQPPPAPAPHATLPRLLRASGRTPEAVQKLLEQGLRHSQDLAF
  LSMLNDIAAVPATAMPFRGYAVLGGERGGPEVQQVPAGERPLWFICSGMGTQWRGMGLSLMRLDRFRDSILRSDE
  AVKPFGLKVSQLLLSTDESTFDDIVHSFVSLTAIQIGLIDLLSCMGLRPDGIVGHSLGEVACGYADGCLSQEEAV
  LAAYWRGQCIKEAHLPPGAMAAVGLSWEECKQRCPPGVVPACHNSKDTVTISGPQAPVFEFVEQLRKEGVFAKEV
  RTGGMAFHSYFMEAIAPPLLQELKKVIREPKPRSARWLSTSIPEAQWHSSLARTSSAEYNVNNLVSPVLFQEALW
  HVPEHAVVLEIAPHALLQAVLKRGLKPSCTIIPLMKKDHRDNLEFFLAGIGRLHLSGIDANPNALFPPVEFPAPR
  GTPLISPLIKWDHSLAWDVPAAEDFPNGSGSPSAAIYNIDTSSESPDHYLVDHTLDGRVLFPATGYLSIVWKTLA
  RALGLGVEQLPVVFEDVVLHQATILPKTGTVSLEVRLLEASRAFEVSENGNLVVSGKVYQWDDPDPRLFDHPESP
  TPNPTEPLFLAQAEVYKELRLRGYDYGPHFQGILEASLEGDSGRLLWKDNWVSFMDTMLQMSILGSAKHGLYLPT
  RVTAIHIDPATHRQKLYTLQDKAQVADVVVSRWLRVTVAGGVHISGLHTESAPRRQQEQQVPILEKFCFTPHTEE
  GCLSERAALQEELQLCKGLVQALQTKVTQQGLKMVVPGLDGAQIPRDPSQQELPRLLSAACRLQLNGNLQLELAQ
  VLAQERPKLPEDPLLSGLLDSPALKACLDTAVENMPSLKMKVVEVLAGHGHLYSRIPGLLSPHPLLQLSYTATDR
  HPQALEAAQAELQQHDVAQGQWDPADPAPSALGSADLLVCNCAVAALGDPASALSNMVAALREGGFLLLHTLLRG
  HPLGDIVAFLTSTEPQYGQGILSQDAWESLFSRVSLRLVGLKKSFYGSTLFLCRRPTPQDSPIFLPVDDTSFRWV
  ESLKGILADEDSSRPVWLKAINCATSGVVGLVNCLRREPGGNRLRCVLLSNLSSTSHVPEVDPGSAELQKVLQGD
  LVMNVYRDGAWGAFRHFLLEEDKPEEPTAHAFVSTLTRGDLSSIRWVCSSLRHAQPTCPGAQLCTVYYASLNFRD
  IMLATGKLSPDAIPGKWTSQDSLLGMEFSGRDASGKRVMGLVPAKGLATSVLLSPDFLWDVPSNWTLEEAASVPV
  VYSTAYYALVVRGRVRPGETLLIHSGSGGVGQAAIAIALSLGCRVFTTVGSAEKRAYLQARFPQLDSTSFANSRD
  TSFEQHVLWHTGGKGVDLVLNSLAEEKLQASVRCLATHGRFLEIGKFDLSQNHPLGMAIFLKNVTFHGVLLDAFF
  NESSADWREVWALVQAGIRDGVVRPLKCTVFHGAQVEDAFRYMAQGKHIGKVVVQVLAEEPEAVLKGAKPKLMSA
  ISKTFCPAHKSYIIAGGLGGFGLELAQWLIQRGVQKLVLTSRSGIRTGYQAKQVRRWRRQGVQVQVSTSNISSLE
  GARGLIAEAAQLGPVGGVFNLAVVLRDGLLENQTPEFFQDVCKPKYSGTLNLDRVTREACPELDYFVVFSSVSCG
  RGNAGQSNYGFANSAMERICEKRRHEGLPGLAVQWGAIGDVGILVETMSTNDTIVSGTLPQRMASCLEVLDLFLN
  QPHMVLSSFVLAEKAAAYRDRDSQRDLVEAVAHILGIRDLAAVNLDSSLADLGLDSLMSVEVRQTLERELNLVLS
  VREVRQLTLRKLQELSSKADEASELACPTPKEDGLAQQQTQLNLRSLLVNPEGPTLMRLNSVQSSERPLFLVHPI
  EGSTTVFHSLASRLSIPTYGLQCTRAAPLDSIHSLAAYYIDCIRQVQPEGPYRVAGYSYGACVAFEMCSQLQAQQ
  SPAPTHNSLFLFDGSPTYVLAYTQSYRAKLTPGCEAEAETEAICFFVQQFTDMEHNRVLEALLPLKGLEERVAAA
  VDLIIKSHQGLDRQELSFAARSFYYKLRAAEQYTPKAKYHGNVMLLRAKTGGAYGEDLGADYNLSQVCDGKVSVH
  VIEGDHRTLLEGSGLESIISIIHSSLAEPRVSVREG

• Structural information:
  • Protein Domains: (2121..219-)
    (/note="Carrier-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00258"-)
  • Interpro: IPR029058  IPR001227  IPR036736  IPR014043  IPR016035   IPR013149  IPR023102  IPR011032  IPR032821  IPR018201  IPR014031  IPR014030  IPR016036  IPR013217  IPR036291  IPR020801  IPR020841  IPR020807  IPR042104  IPR020843  IPR013968  IPR020806  IPR009081  IPR006162  IPR029063  IPR001031  IPR016039  
  • Prosite: PS00606 PS50075 PS00012
  • PDB: 1XKT 2CG5 2JFD 2JFK 2PX6 3HHD 3TJM 4PIV 4W82 4W9N 4Z49 5C37 6NNA
  • PDBsum: 1XKT 2CG5 2JFD 2JFK 2PX6 3HHD 3TJM 4PIV 4W82 4W9N 4Z49 5C37 6NNA
  • DIP: 33681
  • STRING: ENSP00000304592
• Other Databases: GeneCards:  FASN  Malacards:  FASN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004312	fatty acid synthase activity	IEA	molecular function
GO:0009058	biosynthetic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0016788	hydrolase activity, acting on ester bonds	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0031177	phosphopantetheine binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006633	fatty acid biosynthetic process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0016829	lyase activity	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0006631	fatty acid metabolic process	TAS	biological process
GO:0016418	S-acetyltransferase activity	IEA	molecular function
GO:0004312	fatty acid synthase activity	IEA	molecular function
GO:0004314	[acyl-carrier-protein] S-malonyltransferase activity	IEA	molecular function
GO:0008693	3-hydroxydecanoyl-[acyl-carrier-protein] dehydratase activity	IEA	molecular function
GO:0016295	myristoyl-[acyl-carrier-protein] hydrolase activity	IEA	molecular function
GO:0047117	enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity	IEA	molecular function
GO:0047451	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity	IEA	molecular function
GO:0004316	3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity	IEA	molecular function
GO:0019171	3-hydroxyacyl-[acyl-carrier-protein] dehydratase activity	IEA	molecular function
GO:0102131	3-oxo-glutaryl-[acp] methyl ester reductase activity	IEA	molecular function
GO:0102132	3-oxo-pimeloyl-[acp] methyl ester reductase activity	IEA	molecular function
GO:0004313	[acyl-carrier-protein] S-acetyltransferase activity	IEA	molecular function
GO:0004315	3-oxoacyl-[acyl-carrier-protein] synthase activity	IEA	molecular function
GO:0016296	palmitoyl-[acyl-carrier-protein] hydrolase activity	IEA	molecular function
GO:0004317	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity	IEA	molecular function
GO:0016419	S-malonyltransferase activity	IEA	molecular function
GO:0008659	(3R)-hydroxymyristoyl-[acyl-carrier-protein] dehydratase activity	IEA	molecular function
GO:0016297	acyl-[acyl-carrier-protein] hydrolase activity	IEA	molecular function
GO:0004320	oleoyl-[acyl-carrier-protein] hydrolase activity	IEA	molecular function
GO:0046949	fatty-acyl-CoA biosynthetic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0031325	positive regulation of cellular metabolic process	TAS	biological process
GO:0045540	regulation of cholesterol biosynthetic 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:0004312	fatty acid synthase activity	IEA	molecular function
GO:0006633	fatty acid biosynthetic process	IEA	biological process
GO:0008611	ether lipid biosynthetic process	IEA	biological process
GO:0042587	glycogen granule	IEA	cellular component
GO:0090557	establishment of endothelial intestinal barrier	IEA	biological process
GO:0004312	fatty acid synthase activity	IEA	molecular function
GO:0004314	[acyl-carrier-protein] S-malonyltransferase activity	IEA	molecular function
GO:0006084	acetyl-CoA metabolic process	IEA	biological process
GO:0006633	fatty acid biosynthetic process	IEA	biological process
GO:0002068	glandular epithelial cell development	IEA	biological process
GO:0009888	tissue development	IEA	biological process
GO:0030223	neutrophil differentiation	IEA	biological process
GO:0030224	monocyte differentiation	IEA	biological process
GO:0030879	mammary gland development	IEA	biological process
GO:0071353	cellular response to interleukin-4	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0008144	drug binding	IEA	molecular function
GO:0042802	identical protein binding	IEA	molecular function
GO:0070402	NADPH binding	IEA	molecular function
GO:0045296	cadherin binding	HDA	molecular function
GO:0042470	melanosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0001649	osteoblast differentiation	HDA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04910	Insulin signaling pathway
hsa04152	AMPK signaling pathway
hsa01212	Fatty acid metabolism
hsa00061	Fatty acid biosynthesis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray