• Gene id: 10347

Gene Summary

• Gene Symbol: ABCA7   Gene   UCSC   Ensembl
• Aliases: ABCA-SSN, ABCX, AD9
• Gene name: ATP binding cassette subfamily A member 7
• Alternate names: phospholipid-transporting ATPase ABCA7, ATP-binding cassette sub-family A member 7, ATP-binding cassette, sub-family A (ABC1), member 7, autoantigen SS-N, macrophage ABC transporter,
• Gene location: 19p13.3 (1040106: 1065571)     Exons: 47     NC_000019.10
• Gene summary(Entrez): The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, M
• OMIM: 300276

Protein Summary

• Protein general information: Q8IZY2  
  • Name: Phospholipid transporting ATPase ABCA7 (EC 7.6.2.1) (ABCA SSN) (ATP binding cassette sub family A member 7) (Autoantigen SS N) (Macrophage ABC transporter)
  • Length: 2146  
  • Mass: 234350
  • Tissue specificity: Expressed in leukocytes (at protein level) (PubMed
• Sequence:

  MAFWTQLMLLLWKNFMYRRRQPVQLLVELLWPLFLFFILVAVRHSHPPLEHHECHFPNKPLPSAGTVPWLQGLIC
  NVNNTCFPQLTPGEEPGRLSNFNDSLVSRLLADARTVLGGASAHRTLAGLGKLIATLRAARSTAQPQPTKQSPLE
  PPMLDVAELLTSLLRTESLGLALGQAQEPLHSLLEAAEDLAQELLALRSLVELRALLQRPRGTSGPLELLSEALC
  SVRGPSSTVGPSLNWYEASDLMELVGQEPESALPDSSLSPACSELIGALDSHPLSRLLWRRLKPLILGKLLFAPD
  TPFTRKLMAQVNRTFEELTLLRDVREVWEMLGPRIFTFMNDSSNVAMLQRLLQMQDEGRRQPRPGGRDHMEALRS
  FLDPGSGGYSWQDAHADVGHLVGTLGRVTECLSLDKLEAAPSEAALVSRALQLLAEHRFWAGVVFLGPEDSSDPT
  EHPTPDLGPGHVRIKIRMDIDVVTRTNKIRDRFWDPGPAADPLTDLRYVWGGFVYLQDLVERAAVRVLSGANPRA
  GLYLQQMPYPCYVDDVFLRVLSRSLPLFLTLAWIYSVTLTVKAVVREKETRLRDTMRAMGLSRAVLWLGWFLSCL
  GPFLLSAALLVLVLKLGDILPYSHPGVVFLFLAAFAVATVTQSFLLSAFFSRANLAAACGGLAYFSLYLPYVLCV
  AWRDRLPAGGRVAASLLSPVAFGFGCESLALLEEQGEGAQWHNVGTRPTADVFSLAQVSGLLLLDAALYGLATWY
  LEAVCPGQYGIPEPWNFPFRRSYWCGPRPPKSPAPCPTPLDPKVLVEEAPPGLSPGVSVRSLEKRFPGSPQPALR
  GLSLDFYQGHITAFLGHNGAGKTTTLSILSGLFPPSGGSAFILGHDVRSSMAAIRPHLGVCPQYNVLFDMLTVDE
  HVWFYGRLKGLSAAVVGPEQDRLLQDVGLVSKQSVQTRHLSGGMQRKLSVAIAFVGGSQVVILDEPTAGVDPASR
  RGIWELLLKYREGRTLILSTHHLDEAELLGDRVAVVAGGRLCCCGSPLFLRRHLGSGYYLTLVKARLPLTTNEKA
  DTDMEGSVDTRQEKKNGSQGSRVGTPQLLALVQHWVPGARLVEELPHELVLVLPYTGAHDGSFATLFRELDTRLA
  ELRLTGYGISDTSLEEIFLKVVEECAADTDMEDGSCGQHLCTGIAGLDVTLRLKMPPQETALENGEPAGSAPETD
  QGSGPDAVGRVQGWALTRQQLQALLLKRFLLARRSRRGLFAQIVLPALFVGLALVFSLIVPPFGHYPALRLSPTM
  YGAQVSFFSEDAPGDPGRARLLEALLQEAGLEEPPVQHSSHRFSAPEVPAEVAKVLASGNWTPESPSPACQCSRP
  GARRLLPDCPAAAGGPPPPQAVTGSGEVVQNLTGRNLSDFLVKTYPRLVRQGLKTKKWVNEVRYGGFSLGGRDPG
  LPSGQELGRSVEELWALLSPLPGGALDRVLKNLTAWAHSLDAQDSLKIWFNNKGWHSMVAFVNRASNAILRAHLP
  PGPARHAHSITTLNHPLNLTKEQLSEGALMASSVDVLVSICVVFAMSFVPASFTLVLIEERVTRAKHLQLMGGLS
  PTLYWLGNFLWDMCNYLVPACIVVLIFLAFQQRAYVAPANLPALLLLLLLYGWSITPLMYPASFFFSVPSTAYVV
  LTCINLFIGINGSMATFVLELFSDQKLQEVSRILKQVFLIFPHFCLGRGLIDMVRNQAMADAFERLGDRQFQSPL
  RWEVVGKNLLAMVIQGPLFLLFTLLLQHRSQLLPQPRVRSLPLLGEEDEDVARERERVVQGATQGDVLVLRNLTK
  VYRGQRMPAVDRLCLGIPPGECFGLLGVNGAGKTSTFRMVTGDTLASRGEAVLAGHSVAREPSAAHLSMGYCPQS
  DAIFELLTGREHLELLARLRGVPEAQVAQTAGSGLARLGLSWYADRPAGTYSGGNKRKLATALALVGDPAVVFLD
  EPTTGMDPSARRFLWNSLLAVVREGRSVMLTSHSMEECEALCSRLAIMVNGRFRCLGSPQHLKGRFAAGHTLTLR
  VPAARSQPAAAFVAAEFPGAELREAHGGRLRFQLPPGGRCALARVFGELAVHGAEHGVEDFSVSQTMLEEVFLYF
  SKDQGKDEDTEEQKEAGVGVDPAPGLQHPKRVSQFLDDPSTAETVL

• Structural information:
  • Protein Domains: (807..103-)
    1 (/note="ABC-transporter)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00434-)
    (1793..202-)
    2 (/note="ABC-transporter)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00434"-)
  • Interpro: IPR003593  IPR003439  IPR017871  IPR026082  IPR030369   IPR027417  
  • Prosite: PS00211 PS50893
  • STRING: ENSP00000263094
• Other Databases: GeneCards:  ABCA7  Malacards:  ABCA7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0090556	phosphatidylserine floppase activity	IBA	molecular function
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0042626	ATPase-coupled transmembrane transporter activity	IBA	molecular function
GO:0034188	apolipoprotein A-I receptor activity	IBA	molecular function
GO:0033344	cholesterol efflux	IBA	biological process
GO:0005319	lipid transporter activity	IBA	molecular function
GO:0090554	phosphatidylcholine floppase activity	IBA	molecular function
GO:0033700	phospholipid efflux	IBA	biological process
GO:0006869	lipid transport	IBA	biological process
GO:0140328	floppase activity	IDA	molecular function
GO:0042626	ATPase-coupled transmembrane transporter activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016887	ATPase activity	IEA	molecular function
GO:0055085	transmembrane transport	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0006909	phagocytosis	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0140326	ATPase-coupled intramembrane lipid transporter activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0055085	transmembrane transport	TAS	biological process
GO:0090556	phosphatidylserine floppase activity	IDA	molecular function
GO:0090554	phosphatidylcholine floppase activity	IDA	molecular function
GO:0045332	phospholipid translocation	IDA	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0001891	phagocytic cup	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0032587	ruffle membrane	IEA	cellular component
GO:0031901	early endosome membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0034188	apolipoprotein A-I receptor activity	IDA	molecular function
GO:0038027	apolipoprotein A-I-mediated signaling pathway	IDA	biological process
GO:0033344	cholesterol efflux	IDA	biological process
GO:0007613	memory	ISS	biological process
GO:0042985	negative regulation of amyloid precursor protein biosynthetic process	ISS	biological process
GO:0001891	phagocytic cup	ISS	cellular component
GO:1902995	positive regulation of phospholipid efflux	ISS	biological process
GO:0032587	ruffle membrane	ISS	cellular component
GO:0010875	positive regulation of cholesterol efflux	ISS	biological process
GO:1901076	positive regulation of engulfment of apoptotic cell	ISS	biological process
GO:0009986	cell surface	ISS	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0033700	phospholipid efflux	IDA	biological process
GO:0034380	high-density lipoprotein particle assembly	IDA	biological process
GO:1900223	positive regulation of amyloid-beta clearance	ISS	biological process
GO:0018149	peptide cross-linking	ISS	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	ISS	biological process
GO:1902430	negative regulation of amyloid-beta formation	ISS	biological process
GO:0050766	positive regulation of phagocytosis	ISS	biological process
GO:0034504	protein localization to nucleus	ISS	biological process
GO:0044857	plasma membrane raft organization	ISS	biological process
GO:0097386	glial cell projection	ISS	cellular component
GO:2000010	positive regulation of protein localization to cell surface	ISS	biological process
GO:0034205	amyloid-beta formation	IMP	biological process
GO:0045806	negative regulation of endocytosis	ISS	biological process
GO:1902991	regulation of amyloid precursor protein catabolic process	IMP	biological process
GO:0150094	amyloid-beta clearance by cellular catabolic process	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa02010	ABC transporters

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Male factor infertility	MIK: 29961538

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq