ABCA7 | ENSG00000064687 | NCBI 10347

Details for: ABCA7

Gene ID: 10347

Symbol: ABCA7

Ensembl ID: ENSG00000064687

Description: ATP binding cassette subfamily A member 7

Associated with

Abc-family proteins mediated transport
(R-HSA-382556)
Abc transporters in lipid homeostasis
(R-HSA-1369062)
Transport of small molecules
(R-HSA-382551)
Abc-type transporter activity
(GO:0140359)
Amyloid-beta clearance by cellular catabolic process
(GO:0150094)
Amyloid-beta formation
(GO:0034205)
Apolipoprotein a-i-mediated signaling pathway
(GO:0038027)
Apolipoprotein a-i receptor activity
(GO:0034188)
Atpase-coupled transmembrane transporter activity
(GO:0042626)
Atp binding
(GO:0005524)
Atp hydrolysis activity
(GO:0016887)
Cell junction
(GO:0030054)
Cell surface
(GO:0009986)
Cholesterol efflux
(GO:0033344)
Early endosome membrane
(GO:0031901)
Endoplasmic reticulum
(GO:0005783)
Floppase activity
(GO:0140328)
Glial cell projection
(GO:0097386)
Golgi apparatus
(GO:0005794)
Golgi membrane
(GO:0000139)
High-density lipoprotein particle assembly
(GO:0034380)
Intracellular membrane-bounded organelle
(GO:0043231)
Memory
(GO:0007613)
Negative regulation of amyloid-beta formation
(GO:1902430)
Negative regulation of amyloid precursor protein biosynthetic process
(GO:0042985)
Negative regulation of endocytosis
(GO:0045806)
Negative regulation of mapk cascade
(GO:0043409)
Negative regulation of perk-mediated unfolded protein response
(GO:1903898)
Peptide cross-linking
(GO:0018149)
Phagocytic cup
(GO:0001891)
Phagocytosis
(GO:0006909)
Phosphatidylcholine floppase activity
(GO:0090554)
Phosphatidylserine floppase activity
(GO:0090556)
Phospholipid efflux
(GO:0033700)
Phospholipid translocation
(GO:0045332)
Phospholipid transporter activity
(GO:0005548)
Plasma membrane
(GO:0005886)
Plasma membrane raft organization
(GO:0044857)
Positive regulation of amyloid-beta clearance
(GO:1900223)
Positive regulation of cholesterol efflux
(GO:0010875)
Positive regulation of engulfment of apoptotic cell
(GO:1901076)
Positive regulation of erk1 and erk2 cascade
(GO:0070374)
Positive regulation of phagocytosis
(GO:0050766)
Positive regulation of phospholipid efflux
(GO:1902995)
Positive regulation of protein localization to cell surface
(GO:2000010)
Protein localization to nucleus
(GO:0034504)
Regulation of amyloid precursor protein catabolic process
(GO:1902991)
Regulation of lipid metabolic process
(GO:0019216)
Ruffle membrane
(GO:0032587)
Transmembrane transport
(GO:0055085)
Visual learning
(GO:0008542)

Other Information

Proteins

ABCA7_HUMAN
B3KUJ3_HUMAN

Genular Protein ID: 4113529544

Symbol: ABCA7_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q8IZY2 Q96S58 Q9BZC4 Q9NR73 Q9UKP8

Database IDs:

Citations:

PubMed ID: 10873640

Title: Identification of a novel human sterol-sensitive ATP-binding cassette transporter (ABCA7).

PubMed ID: 10873640

DOI: 10.1006/bbrc.2000.2954

PubMed ID: 11095984

Title: Genomic organization of the human cholesterol-responsive ABC transporter ABCA7: tandem linkage with the minor histocompatibility antigen HA-1 gene.

PubMed ID: 11095984

DOI: 10.1006/bbrc.2000.3880

PubMed ID: 11355874

Title: Human ABCA1 contains a large amino-terminal extracellular domain homologous to an epitope of Sjogren's Syndrome.

PubMed ID: 11355874

DOI: 10.1006/bbrc.2001.4891

PubMed ID: 11435699

Title: Comparative analysis of the promoter structure and genomic organization of the human and mouse ABCA7 gene encoding a novel ABCA transporter.

PubMed ID: 11435699

DOI: 10.1159/000056914

PubMed ID: 15057824

Title: The DNA sequence and biology of human chromosome 19.

PubMed ID: 15057824

DOI: 10.1038/nature02399

PubMed ID: 14592415

Title: Posttranscriptional regulation of human ABCA7 and its function for the apoA-I-dependent lipid release.

PubMed ID: 14592415

DOI: 10.1016/j.bbrc.2003.10.002

PubMed ID: 12917409

Title: ATP-binding cassette transporter A7 (ABCA7) binds apolipoprotein A-I and mediates cellular phospholipid but not cholesterol efflux.

PubMed ID: 12917409

DOI: 10.1074/jbc.m307831200

PubMed ID: 12925201

Title: Adenosine triphosphate binding cassette (ABC) transporters are expressed and regulated during terminal keratinocyte differentiation: a potential role for ABCA7 in epidermal lipid reorganization.

PubMed ID: 12925201

DOI: 10.1046/j.1523-1747.2003.12404.x

PubMed ID: 14570867

Title: Human ABCA7 supports apolipoprotein-mediated release of cellular cholesterol and phospholipid to generate high density lipoprotein.

PubMed ID: 14570867

DOI: 10.1074/jbc.m309888200

PubMed ID: 24097981

Title: Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants.

PubMed ID: 24097981

DOI: 10.1074/jbc.m113.508812

PubMed ID: 26260791

Title: ATP-binding cassette transporter A7 (ABCA7) loss of function alters Alzheimer amyloid processing.

PubMed ID: 26260791

DOI: 10.1074/jbc.m115.655076

PubMed ID: 26141617

Title: Mutations in ABCA7 in a Belgian cohort of Alzheimer's disease patients: a targeted resequencing study.

PubMed ID: 26141617

DOI: 10.1016/s1474-4422(15)00133-7

PubMed ID: 25807283

Title: Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease.

PubMed ID: 25807283

DOI: 10.1038/ng.3246

PubMed ID: 27472885

Title: ABCA7 Mediates Phagocytic Clearance of Amyloid-beta in the Brain.

PubMed ID: 27472885

DOI: 10.3233/jad-160456

PubMed ID: 12111378

Title: Catalog of 605 single-nucleotide polymorphisms (SNPs) among 13 genes encoding human ATP-binding cassette transporters: ABCA4, ABCA7, ABCA8, ABCD1, ABCD3, ABCD4, ABCE1, ABCF1, ABCG1, ABCG2, ABCG4, ABCG5, and ABCG8.

PubMed ID: 12111378

DOI: 10.1007/s100380200041

PubMed ID: 29577078

Title: Rare ABCA7 variants in 2 German families with Alzheimer disease.

PubMed ID: 29577078

DOI: 10.1212/nxg.0000000000000224

Sequence Information:

Length: 2146
Mass: 234350
Checksum: 6EA624088E74FEE6
Sequence:

MAFWTQLMLL LWKNFMYRRR QPVQLLVELL WPLFLFFILV AVRHSHPPLE HHECHFPNKP 
LPSAGTVPWL QGLICNVNNT CFPQLTPGEE PGRLSNFNDS LVSRLLADAR TVLGGASAHR 
TLAGLGKLIA TLRAARSTAQ PQPTKQSPLE PPMLDVAELL TSLLRTESLG LALGQAQEPL 
HSLLEAAEDL AQELLALRSL VELRALLQRP RGTSGPLELL SEALCSVRGP SSTVGPSLNW 
YEASDLMELV GQEPESALPD SSLSPACSEL IGALDSHPLS RLLWRRLKPL ILGKLLFAPD 
TPFTRKLMAQ VNRTFEELTL LRDVREVWEM LGPRIFTFMN DSSNVAMLQR LLQMQDEGRR 
QPRPGGRDHM EALRSFLDPG SGGYSWQDAH ADVGHLVGTL GRVTECLSLD KLEAAPSEAA 
LVSRALQLLA EHRFWAGVVF LGPEDSSDPT EHPTPDLGPG HVRIKIRMDI DVVTRTNKIR 
DRFWDPGPAA DPLTDLRYVW GGFVYLQDLV ERAAVRVLSG ANPRAGLYLQ QMPYPCYVDD 
VFLRVLSRSL PLFLTLAWIY SVTLTVKAVV REKETRLRDT MRAMGLSRAV LWLGWFLSCL 
GPFLLSAALL VLVLKLGDIL PYSHPGVVFL FLAAFAVATV TQSFLLSAFF SRANLAAACG 
GLAYFSLYLP YVLCVAWRDR LPAGGRVAAS LLSPVAFGFG CESLALLEEQ GEGAQWHNVG 
TRPTADVFSL AQVSGLLLLD AALYGLATWY LEAVCPGQYG IPEPWNFPFR RSYWCGPRPP 
KSPAPCPTPL DPKVLVEEAP PGLSPGVSVR SLEKRFPGSP QPALRGLSLD FYQGHITAFL 
GHNGAGKTTT LSILSGLFPP SGGSAFILGH DVRSSMAAIR PHLGVCPQYN VLFDMLTVDE 
HVWFYGRLKG LSAAVVGPEQ DRLLQDVGLV SKQSVQTRHL SGGMQRKLSV AIAFVGGSQV 
VILDEPTAGV DPASRRGIWE LLLKYREGRT LILSTHHLDE AELLGDRVAV VAGGRLCCCG 
SPLFLRRHLG SGYYLTLVKA RLPLTTNEKA DTDMEGSVDT RQEKKNGSQG SRVGTPQLLA 
LVQHWVPGAR LVEELPHELV LVLPYTGAHD GSFATLFREL DTRLAELRLT GYGISDTSLE 
EIFLKVVEEC AADTDMEDGS CGQHLCTGIA GLDVTLRLKM PPQETALENG EPAGSAPETD 
QGSGPDAVGR VQGWALTRQQ LQALLLKRFL LARRSRRGLF AQIVLPALFV GLALVFSLIV 
PPFGHYPALR LSPTMYGAQV SFFSEDAPGD PGRARLLEAL LQEAGLEEPP VQHSSHRFSA 
PEVPAEVAKV LASGNWTPES PSPACQCSRP GARRLLPDCP AAAGGPPPPQ AVTGSGEVVQ 
NLTGRNLSDF LVKTYPRLVR QGLKTKKWVN EVRYGGFSLG GRDPGLPSGQ ELGRSVEELW 
ALLSPLPGGA LDRVLKNLTA WAHSLDAQDS LKIWFNNKGW HSMVAFVNRA SNAILRAHLP 
PGPARHAHSI TTLNHPLNLT KEQLSEGALM ASSVDVLVSI CVVFAMSFVP ASFTLVLIEE 
RVTRAKHLQL MGGLSPTLYW LGNFLWDMCN YLVPACIVVL IFLAFQQRAY VAPANLPALL 
LLLLLYGWSI TPLMYPASFF FSVPSTAYVV LTCINLFIGI NGSMATFVLE LFSDQKLQEV 
SRILKQVFLI FPHFCLGRGL IDMVRNQAMA DAFERLGDRQ FQSPLRWEVV GKNLLAMVIQ 
GPLFLLFTLL LQHRSQLLPQ PRVRSLPLLG EEDEDVARER ERVVQGATQG DVLVLRNLTK 
VYRGQRMPAV DRLCLGIPPG ECFGLLGVNG AGKTSTFRMV TGDTLASRGE AVLAGHSVAR 
EPSAAHLSMG YCPQSDAIFE LLTGREHLEL LARLRGVPEA QVAQTAGSGL ARLGLSWYAD 
RPAGTYSGGN KRKLATALAL VGDPAVVFLD EPTTGMDPSA RRFLWNSLLA VVREGRSVML 
TSHSMEECEA LCSRLAIMVN GRFRCLGSPQ HLKGRFAAGH TLTLRVPAAR SQPAAAFVAA 
EFPGAELREA HGGRLRFQLP PGGRCALARV FGELAVHGAE HGVEDFSVSQ TMLEEVFLYF 
SKDQGKDEDT EEQKEAGVGV DPAPGLQHPK RVSQFLDDPS TAETVL

Genular Protein ID: 555882111

Symbol: B3KUJ3_HUMAN

Name: N/A

UniProtKB Accession Codes:

B3KUJ3

Database IDs:

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

Sequence Information:

Length: 558
Mass: 60950
Checksum: BC031297074427B0
Sequence:

MGGLSPTLYW LGNFLWDMCN YLVPACIVVL IFLAFQQRAY VAPANLPALL LLLLLYGTAY 
VVLTCINLFI GINGSMATFV LELFSDQKLQ EVSRILKQVF LIFPHFCLGR GLIDMVRNQA 
MADAFERLGD RQFQSPLRWE VVGKNLLAMV IQGPLFLLFT LLLQHRSQLL PQPRVRSLPL 
LGEEDEDVAR ERERVVQGAT QGDVLVLRNL TKVYRGQRMP AVDRLCLGIP PGECFGLLGV 
NGAGKTSTFR MVTGDTLASR GEAVLAGHSV AREPSAAHLS MGYCPQSDAI FELLTGREHL 
ELLARLRGVP EAQVAQTAGS GLARLGLSWY ADRPAGTYSG GNKRKLATAL ALVGDPAVVF 
LDEPTTGMDP SARRFLWNSL LAVVREGRSV MLTSHSMEEC EALCSRLAIM VNGRFRCLGS 
PQHLKGRFAA GHTLTLRVPA ARSQPAAAFV AAEFPGAELR EAHGGRLRFQ LPPGGRCALA 
RVFGELAVHG AEHGVEDFSV SQTMLEEVFL YFSKDQGKDE DTEEQKEAGV GVDPAPGLQH 
PKRVSQFLDD PSTAETVL

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: ABCA7

Associated with

Other Information

Identification of a novel human sterol-sensitive ATP-binding cassette transporter (ABCA7). PubMed ID: 10873640

Genomic organization of the human cholesterol-responsive ABC transporter ABCA7: tandem linkage with the minor histocompatibility antigen HA-1 gene. PubMed ID: 11095984

Human ABCA1 contains a large amino-terminal extracellular domain homologous to an epitope of Sjogren's Syndrome. PubMed ID: 11355874

Comparative analysis of the promoter structure and genomic organization of the human and mouse ABCA7 gene encoding a novel ABCA transporter. PubMed ID: 11435699

The DNA sequence and biology of human chromosome 19. PubMed ID: 15057824

Posttranscriptional regulation of human ABCA7 and its function for the apoA-I-dependent lipid release. PubMed ID: 14592415

ATP-binding cassette transporter A7 (ABCA7) binds apolipoprotein A-I and mediates cellular phospholipid but not cholesterol efflux. PubMed ID: 12917409

Adenosine triphosphate binding cassette (ABC) transporters are expressed and regulated during terminal keratinocyte differentiation: a potential role for ABCA7 in epidermal lipid reorganization. PubMed ID: 12925201

Human ABCA7 supports apolipoprotein-mediated release of cellular cholesterol and phospholipid to generate high density lipoprotein. PubMed ID: 14570867

Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants. PubMed ID: 24097981

ATP-binding cassette transporter A7 (ABCA7) loss of function alters Alzheimer amyloid processing. PubMed ID: 26260791

Mutations in ABCA7 in a Belgian cohort of Alzheimer's disease patients: a targeted resequencing study. PubMed ID: 26141617

Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease. PubMed ID: 25807283

ABCA7 Mediates Phagocytic Clearance of Amyloid-beta in the Brain. PubMed ID: 27472885

Catalog of 605 single-nucleotide polymorphisms (SNPs) among 13 genes encoding human ATP-binding cassette transporters: ABCA4, ABCA7, ABCA8, ABCD1, ABCD3, ABCD4, ABCE1, ABCF1, ABCG1, ABCG2, ABCG4, ABCG5, and ABCG8. PubMed ID: 12111378

Rare ABCA7 variants in 2 German families with Alzheimer disease. PubMed ID: 29577078

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039