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, M

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
• PDB: 8EDW, 8EE6, 8EEB, 8EOP, 8Y1O, 8Y1P
• 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