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ABCA8 ATP binding cassette subfamily A member 8 [ Homo sapiens (human) ]

Gene ID: 10351, updated on 8-Jul-2021

Summary

Official Symbol
ABCA8provided by HGNC
Official Full Name
ATP binding cassette subfamily A member 8provided by HGNC
Primary source
HGNC:HGNC:38
See related
Ensembl:ENSG00000141338 MIM:612505
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
The membrane-associated 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 intracellular 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. The encoded protein may regulate lipid metabolism and be involved in the formation and maintenance of myelin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Expression
Broad expression in fat (RPKM 21.2), ovary (RPKM 21.1) and 22 other tissues See more
Orthologs
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Genomic context

See ABCA8 in Genome Data Viewer
Location:
17q24.2
Exon count:
40
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (68867285..68955415, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (66863430..66951533, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1482 Neighboring gene uncharacterized LOC105371877 Neighboring gene uncharacterized LOC105371874 Neighboring gene ATP binding cassette subfamily A member 9 Neighboring gene ABCA9 antisense RNA 1 Neighboring gene ATP binding cassette subfamily A member 6 Neighboring gene SEC24 homolog A pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Biological, clinical and population relevance of 95 loci for blood lipids.
GeneReviews: Not available
Discovery and refinement of loci associated with lipid levels.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0822, MGC163152

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ABC-type transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables ABC-type xenobiotic transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables ATPase-coupled transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables ATPase-coupled transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
enables ATPase-coupled transmembrane transporter activity TAS
Traceable Author Statement
more info
 
enables lipid transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in cholesterol efflux ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cholesterol transport ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in lipid transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of cholesterol efflux IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of cholesterol efflux IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in sphingomyelin biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in transmembrane transport TAS
Traceable Author Statement
more info
 
involved_in xenobiotic transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in basolateral plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
ABC-type organic anion transporter ABCA8
Names
ATP-binding cassette, sub-family A (ABC1), member 8

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001288985.2NP_001275914.1  ABC-type organic anion transporter ABCA8 isoform 1

    See identical proteins and their annotated locations for NP_001275914.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AB020629, AC015844, AW590229, BC024003, BC130280
    Consensus CDS
    CCDS74139.1
    UniProtKB/Swiss-Prot
    O94911
    Related
    ENSP00000467271.1, ENST00000586539.6
    Conserved Domains (2) summary
    TIGR01257
    Location:235790
    rim_protein; retinal-specific rim ABC transporter
    cd03263
    Location:480703
    ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
  2. NM_001288986.2NP_001275915.1  ABC-type organic anion transporter ABCA8 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1.
    Source sequence(s)
    AA448212, AB020629, AC015844, BC024003, BC143972, CK824290
    Consensus CDS
    CCDS74138.1
    UniProtKB/Swiss-Prot
    O94911
    UniProtKB/TrEMBL
    A0A0A0MSU4
    Related
    ENSP00000402814.3, ENST00000430352.6
    Conserved Domains (5) summary
    cd03263
    Location:480703
    ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
    COG1131
    Location:12731592
    CcmA; ABC-type multidrug transport system, ATPase component [Defense mechanisms]
    pfam12698
    Location:225418
    ABC2_membrane_3; ABC-2 family transporter protein
    pfam12730
    Location:10101175
    ABC2_membrane_4; ABC-2 family transporter protein
    cl00473
    Location:266373
    BI-1-like; BAX inhibitor (BI)-1/YccA-like protein family
  3. NM_001375771.1NP_001362700.1  ABC-type organic anion transporter ABCA8 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC005922, AC015844
    Conserved Domains (2) summary
    TIGR01257
    Location:174729
    rim_protein; retinal-specific rim ABC transporter
    cd03263
    Location:419642
    ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
  4. NM_001375772.1NP_001362701.1  ABC-type organic anion transporter ABCA8 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC005922, AC015844
    Conserved Domains (2) summary
    TIGR01257
    Location:5591124
    rim_protein; retinal-specific rim ABC transporter
    cd03263
    Location:8111032
    ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
  5. NM_007168.4NP_009099.1  ABC-type organic anion transporter ABCA8 isoform 2

    See identical proteins and their annotated locations for NP_009099.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
    Source sequence(s)
    AB020629, AC015844, AW590229, BC024003
    Consensus CDS
    CCDS11680.1
    UniProtKB/Swiss-Prot
    O94911
    UniProtKB/TrEMBL
    A0A024R8L6
    Related
    ENSP00000269080.1, ENST00000269080.6
    Conserved Domains (6) summary
    cd03263
    Location:12451466
    ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
    COG1131
    Location:12381557
    CcmA; ABC-type multidrug transport system, ATPase component [Defense mechanisms]
    pfam12698
    Location:225418
    ABC2_membrane_3; ABC-2 family transporter protein
    pfam12730
    Location:9701135
    ABC2_membrane_4; ABC-2 family transporter protein
    cl00473
    Location:266373
    BI-1-like; BAX inhibitor (BI)-1/YccA-like protein family
    cl21455
    Location:480663
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    68867285..68955415 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011524192.3XP_011522494.1  ABC-type organic anion transporter ABCA8 isoform X2

    Conserved Domains (4) summary
    cd03263
    Location:480703
    ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
    COG1131
    Location:478756
    CcmA; ABC-type multidrug transport system, ATPase component [Defense mechanisms]
    pfam12698
    Location:225418
    ABC2_membrane_3; ABC-2 family transporter protein
    cl00473
    Location:266373
    BI-1-like; BAX inhibitor (BI)-1/YccA-like protein family

RNA

  1. XR_002957944.1 RNA Sequence

  2. XR_002957945.1 RNA Sequence

  3. XR_001752402.2 RNA Sequence

  4. XR_001752401.2 RNA Sequence

  5. XR_002957946.1 RNA Sequence

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