ABCA7 (ATP binding cassette subfamily A member 7)

Gene

• Entrez ID: 10347
• Gene name: ATP binding cassette subfamily A member 7
• Gene symbol: ABCA7
• Synonyms: ABCA-SSN, ABCX, AD9
• Chromosome: 19
• Chromosome location: 19p13.3
• Summary: 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, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This full transporter has been detected predominantly in myelo-lymphatic tissues with the highest expression in peripheral leukocytes, thymus, spleen, and bone marrow. The function of this protein is not yet known; however, the expression pattern suggests a role in lipid homeostasis in cells of the immune system. [provided by RefSeq, Jul 2008]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs115536223	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, intron variant, synonymous variant, non coding transcript variant, 3 prime UTR variant, downstream transcript variant, genic downstream transcript variant
rs189260652	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs201060968	G>A	Risk-factor, likely-benign, uncertain-significance	Coding sequence variant, stop gained, non coding transcript variant
rs538591288	T>-	Conflicting-interpretations-of-pathogenicity	Frameshift variant, coding sequence variant, non coding transcript variant
rs547447016	AGCAGGG>-	Conflicting-interpretations-of-pathogenicity, risk-factor	Coding sequence variant, upstream transcript variant, non coding transcript variant, frameshift variant, genic upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017401	hsa-miR-335-5p	Microarray	18185580

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0001891	Component	Phagocytic cup	ISS
GO:0005319	Function	Lipid transporter activity	IBA	21873635
GO:0005524	Function	ATP binding	IEA
GO:0005548	Function	Phospholipid transporter activity	IGI	28373057
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005886	Component	Plasma membrane	IDA	14570867, 28373057
GO:0005886	Component	Plasma membrane	TAS
GO:0006869	Process	Lipid transport	IBA	21873635
GO:0006909	Process	Phagocytosis	IEA
GO:0007613	Process	Memory	ISS
GO:0008542	Process	Visual learning	ISS
GO:0009986	Component	Cell surface	ISS
GO:0010875	Process	Positive regulation of cholesterol efflux	ISS
GO:0016021	Component	Integral component of membrane	IEA
GO:0016887	Function	ATPase activity	IEA
GO:0018149	Process	Peptide cross-linking	ISS
GO:0019216	Process	Regulation of lipid metabolic process	ISS
GO:0030054	Component	Cell junction	IDA
GO:0031901	Component	Early endosome membrane	IEA
GO:0032587	Component	Ruffle membrane	ISS
GO:0033344	Process	Cholesterol efflux	IBA	21873635
GO:0033344	Process	Cholesterol efflux	IDA	14570867
GO:0033700	Process	Phospholipid efflux	IBA	21873635
GO:0033700	Process	Phospholipid efflux	IDA	14570867
GO:0033700	Process	Phospholipid efflux	IGI	28373057
GO:0034188	Function	Apolipoprotein A-I receptor activity	IBA	21873635
GO:0034188	Function	Apolipoprotein A-I receptor activity	IDA	14570867
GO:0034205	Process	Amyloid-beta formation	IMP	26260791
GO:0034380	Process	High-density lipoprotein particle assembly	IDA	14570867
GO:0034504	Process	Protein localization to nucleus	ISS
GO:0038027	Process	Apolipoprotein A-I-mediated signaling pathway	IDA	14570867
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IBA	21873635
GO:0042985	Process	Negative regulation of amyloid precursor protein biosynthetic process	ISS
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA	21873635
GO:0043409	Process	Negative regulation of MAPK cascade	ISS
GO:0044857	Process	Plasma membrane raft organization	ISS
GO:0045332	Process	Phospholipid translocation	IDA	24097981
GO:0045806	Process	Negative regulation of endocytosis	ISS
GO:0050766	Process	Positive regulation of phagocytosis	ISS
GO:0055085	Process	Transmembrane transport	TAS
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	ISS
GO:0090554	Function	Phosphatidylcholine floppase activity	IBA	21873635
GO:0090554	Function	Phosphatidylcholine floppase activity	IDA	24097981
GO:0090556	Function	Phosphatidylserine floppase activity	IBA	21873635
GO:0090556	Function	Phosphatidylserine floppase activity	IDA	24097981
GO:0097386	Component	Glial cell projection	ISS
GO:0140328	Function	Floppase activity	IDA	24097981
GO:0150094	Process	Amyloid-beta clearance by cellular catabolic process	ISS
GO:1900223	Process	Positive regulation of amyloid-beta clearance	ISS
GO:1901076	Process	Positive regulation of engulfment of apoptotic cell	ISS
GO:1902430	Process	Negative regulation of amyloid-beta formation	ISS
GO:1902991	Process	Regulation of amyloid precursor protein catabolic process	IMP	26260791
GO:1902995	Process	Positive regulation of phospholipid efflux	ISS
GO:1903898	Process	Negative regulation of PERK-mediated unfolded protein response	ISS
GO:2000010	Process	Positive regulation of protein localization to cell surface	ISS

Other IDs

• MIM: 605414
• HGNC: 37
• e!Ensembl: ENSG00000064687

Protein

• UniProt ID: Q8IZY2
• Protein 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)
• Protein function: Catalyzes the translocation of specific phospholipids from the cytoplasmic to the extracellular/lumenal leaflet of membrane coupled to the hydrolysis of ATP (PubMed:24097981). Transports preferentially phosphatidylserine over phosphatidylcholine (PubMed:24097981). Plays a role in lipid homeostasis and macrophage-mediated phagocytosis (PubMed:14592415, PubMed:12917409, PubMed:12925201, PubMed:14570867). Binds APOA1 and may function in apolipoprotein-mediated phospholipid efflux from cells (PubMed:12917409, PubMed:14570867, PubMed:14592415). May also mediate cholesterol efflux (PubMed:14570867). May regulate cellular ceramide homeostasis during keratinocyte differentiation (PubMed:12925201). Involved in lipid raft organization and CD1D localization on thymocytes and antigen-presenting cells, which plays an important role in natural killer T-cell development and activation (By similarity). Plays a role in phagocytosis of apoptotic cells by macrophages (By similarity). Macrophage phagocytosis is stimulated by APOA1 or APOA2, probably by stabilization of ABCA7 (By similarity). Also involved in phagocytic clearance of amyloid-beta by microglia cells and macrophages (By similarity). Further limits amyloid-beta production by playing a role in the regulation of amyloid-beta A4 precursor protein (APP) endocytosis and/or processing (PubMed:26260791). Amyloid-beta is the main component of amyloid plaques found in the brains of Alzheimer patients (PubMed:26260791).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12698	ABC2_membrane_3	530 → 750		Family
  PF00005	ABC_tran	824 → 968	ABC transporter	Domain
  PF12698	ABC2_membrane_3	1433 → 1750		Family
  PF00005	ABC_tran	1810 → 1954	ABC transporter	Domain

• Sequence:

  MAFWTQLMLLLWKNFMYRRRQPVQLLVELLWPLFLFFILVAVRHSHPPLEHHECHFPNKP
  LPSAGTVPWLQGLICNVNNTCFPQLTPGEEPGRLSNFNDSLVSRLLADARTVLGGASAHR
  TLAGLGKLIATLRAARSTAQPQPTKQSPLEPPMLDVAELLTSLLRTESLGLALGQAQEPL
  HSLLEAAEDLAQELLALRSLVELRALLQRPRGTSGPLELLSEALCSVRGPSSTVGPSLNW
  YEASDLMELVGQEPESALPDSSLSPACSELIGALDSHPLSRLLWRRLKPLILGKLLFAPD
  TPFTRKLMAQVNRTFEELTLLRDVREVWEMLGPRIFTFMNDSSNVAMLQRLLQMQDEGRR
  QPRPGGRDHMEALRSFLDPGSGGYSWQDAHADVGHLVGTLGRVTECLSLDKLEAAPSEAA
  LVSRALQLLAEHRFWAGVVFLGPEDSSDPTEHPTPDLGPGHVRIKIRMDIDVVTRTNKIR
  DRFWDPGPAADPLTDLRYVWGGFVYLQDLVERAAVRVLSGANPRAGLYLQQMPYPCYVDD
  VFLRVLSRSLPLFLTLAWIYSVTLTVKAVVREKETRLRDTMRAMGLSRAVLWLGWFLSCL
  GPFLLSAALLVLVLKLGDILPYSHPGVVFLFLAAFAVATVTQSFLLSAFFSRANLAAACG
  GLAYFSLYLPYVLCVAWRDRLPAGGRVAASLLSPVAFGFGCESLALLEEQGEGAQWHNVG
  TRPTADVFSLAQVSGLLLLDAALYGLATWYLEAVCPGQYGIPEPWNFPFRRSYWCGPRPP
  KSPAPCPTPLDPKVLVEEAPPGLSPGVSVRSLEKRFPGSPQPALRGLSLDFYQGHITAFL
  GHNGAGKTTTLSILSGLFPPSGGSAFILGHDVRSSMAAIRPHLGVCPQYNVLFDMLTVDE
  HVWFYGRLKGLSAAVVGPEQDRLLQDVGLVSKQSVQTRHLSGGMQRKLSVAIAFVGGSQV
  VILDEPTAGVDPASRRGIWELLLKYREGRTLILSTHHLDEAELLGDRVAVVAGGRLCCCG
  SPLFLRRHLGSGYYLTLVKARLPLTTNEKADTDMEGSVDTRQEKKNGSQGSRVGTPQLLA
  LVQHWVPGARLVEELPHELVLVLPYTGAHDGSFATLFRELDTRLAELRLTGYGISDTSLE
  EIFLKVVEECAADTDMEDGSCGQHLCTGIAGLDVTLRLKMPPQETALENGEPAGSAPETD
  QGSGPDAVGRVQGWALTRQQLQALLLKRFLLARRSRRGLFAQIVLPALFVGLALVFSLIV
  PPFGHYPALRLSPTMYGAQVSFFSEDAPGDPGRARLLEALLQEAGLEEPPVQHSSHRFSA
  PEVPAEVAKVLASGNWTPESPSPACQCSRPGARRLLPDCPAAAGGPPPPQAVTGSGEVVQ
  NLTGRNLSDFLVKTYPRLVRQGLKTKKWVNEVRYGGFSLGGRDPGLPSGQELGRSVEELW
  ALLSPLPGGALDRVLKNLTAWAHSLDAQDSLKIWFNNKGWHSMVAFVNRASNAILRAHLP
  PGPARHAHSITTLNHPLNLTKEQLSEGALMASSVDVLVSICVVFAMSFVPASFTLVLIEE
  RVTRAKHLQLMGGLSPTLYWLGNFLWDMCNYLVPACIVVLIFLAFQQRAYVAPANLPALL
  LLLLLYGWSITPLMYPASFFFSVPSTAYVVLTCINLFIGINGSMATFVLELFSDQKLQEV
  SRILKQVFLIFPHFCLGRGLIDMVRNQAMADAFERLGDRQFQSPLRWEVVGKNLLAMVIQ
  GPLFLLFTLLLQHRSQLLPQPRVRSLPLLGEEDEDVARERERVVQGATQGDVLVLRNLTK
  VYRGQRMPAVDRLCLGIPPGECFGLLGVNGAGKTSTFRMVTGDTLASRGEAVLAGHSVAR
  EPSAAHLSMGYCPQSDAIFELLTGREHLELLARLRGVPEAQVAQTAGSGLARLGLSWYAD
  RPAGTYSGGNKRKLATALALVGDPAVVFLDEPTTGMDPSARRFLWNSLLAVVREGRSVML
  TSHSMEECEALCSRLAIMVNGRFRCLGSPQHLKGRFAAGHTLTLRVPAARSQPAAAFVAA
  EFPGAELREAHGGRLRFQLPPGGRCALARVFGELAVHGAEHGVEDFSVSQTMLEEVFLYF
  SKDQGKDEDTEEQKEAGVGVDPAPGLQHPKRVSQFLDDPSTAETVL

• Sequence length: 2146