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

Gene ID: 10351, updated on 10-Dec-2024

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; AllianceGenome:HGNC:38
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:
41
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (68867289..68955392, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (69744197..69832305, complement)
RS_2024_09 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 uncharacterized LOC124904049 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:66728411-66728992 Neighboring gene Sharpr-MPRA regulatory region 8583 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12651 Neighboring gene uncharacterized LOC105371874 Neighboring gene uncharacterized LOC124904050 Neighboring gene ATP binding cassette subfamily A member 9 Neighboring gene MPRA-validated peak2963 silencer Neighboring gene ABCA9 antisense RNA 1 Neighboring gene uncharacterized LOC124904051

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

EBI GWAS Catalog

Description
Biological, clinical and population relevance of 95 loci for blood lipids.
EBI GWAS Catalog
Discovery and refinement of loci associated with lipid levels.
EBI GWAS Catalog

Interactions

General gene information

Clone Names

  • KIAA0822, MGC163152

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ABC-type transporter activity PubMed 
enables ABC-type transporter activity  
enables ABC-type xenobiotic transporter activity PubMed 
enables ABC-type xenobiotic transporter activity PubMed 
enables ATP binding  
enables ATP hydrolysis activity  
enables ATPase-coupled transmembrane transporter activity  
enables ATPase-coupled transmembrane transporter activity  
enables lipid transporter activity  
Process Evidence Code Pubs
involved_in cholesterol efflux PubMed 
involved_in cholesterol efflux  
involved_in cholesterol transport PubMed 
involved_in cholesterol transport  
involved_in lipid transport  
involved_in positive regulation of cholesterol efflux PubMed 
involved_in regulation of cholesterol efflux PubMed 
involved_in sphingomyelin biosynthetic process PubMed 
involved_in transmembrane transport  
involved_in transmembrane transport  
involved_in xenobiotic transmembrane transport PubMed 
involved_in xenobiotic transport PubMed 
Component Evidence Code Pubs
located_in basolateral plasma membrane  
located_in endoplasmic reticulum PubMed 
is_active_in intracellular membrane-bounded organelle  
located_in plasma membrane PubMed 
located_in plasma membrane  

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
    A1L3U3, C9JQE6, O94911, Q86WW0
    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/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
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    68867289..68955392 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047435108.1XP_047291064.1  ABC-type organic anion transporter ABCA8 isoform X1

    UniProtKB/Swiss-Prot
    A1L3U3, C9JQE6, O94911, Q86WW0
  2. XM_047435109.1XP_047291065.1  ABC-type organic anion transporter ABCA8 isoform X2

    UniProtKB/TrEMBL
    B4E2I2
  3. XM_011524192.4XP_011522494.1  ABC-type organic anion transporter ABCA8 isoform X3

    UniProtKB/TrEMBL
    B4DJ11
    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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    69744197..69832305 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054314684.1XP_054170659.1  ABC-type organic anion transporter ABCA8 isoform X1

    UniProtKB/Swiss-Prot
    A1L3U3, C9JQE6, O94911, Q86WW0
  2. XM_054314685.1XP_054170660.1  ABC-type organic anion transporter ABCA8 isoform X2

    UniProtKB/TrEMBL
    B4E2I2
  3. XM_054314686.1XP_054170661.1  ABC-type organic anion transporter ABCA8 isoform X3

    UniProtKB/TrEMBL
    B4DJ11
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