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

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: all
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Genomic context

Location:: 17q24.2

Exon count:: 41

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (68867289..68955392, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (69744197..69832305, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (66863430..66951533, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ABCA8 inhibits breast cancer cell proliferation by regulating the AMP activated protein kinase/mammalian target of rapamycin signaling pathway.
Title: ABCA8 inhibits breast cancer cell proliferation by regulating the AMP activated protein kinase/mammalian target of rapamycin signaling pathway.
Prognostic Value and Immune Infiltrates of ABCA8 and FABP4 in Stomach Adenocarcinoma.
Title: Prognostic Value and Immune Infiltrates of ABCA8 and FABP4 in Stomach Adenocarcinoma.
ABCA8 is regulated by miR-374b-5p and inhibits proliferation and metastasis of hepatocellular carcinoma through the ERK/ZEB1 pathway.
Title: ABCA8 is regulated by miR-374b-5p and inhibits proliferation and metastasis of hepatocellular carcinoma through the ERK/ZEB1 pathway.
Study results suggest that mABCA8b/ABCA8 functions as a sinusoidal efflux transporter for at least cholesterol and taurocholate in mouse and human liver.
Title: ATP-Binding Cassette Transporter A Subfamily 8 Is a Sinusoidal Efflux Transporter for Cholesterol and Taurocholate in Mouse and Human Liver.
ABCA8 facilitates cholesterol efflux and modulates HDL-cholesterol levels.
Title: ABCA8 Regulates Cholesterol Efflux and High-Density Lipoprotein Cholesterol Levels.
Genes ABCC7, A3, A8, A12, and C8 prevailed among the most upregulated or downregulated ones. In conclusion, the results supported our theory about general adenosine triphosphate-binding cassette gene expression profiles and their importance for cancer on clinical as well as research levels
Title: ABC gene expression profiles have clinical importance and possibly form a new hallmark of cancer.
These data suggest a direct relationship between the levels of ABCA8 and the ectopic expression of alpha-syn and increased expression of p25alpha
Title: Increased expression of ABCA8 in multiple system atrophy brain is associated with changes in pathogenic proteins.
ABCA8 is highly expressed in human brain and regulates lipid metabolism in oligodendrocytes, potentially playing a role in myelin formation and maintenance.
Title: ABCA8 stimulates sphingomyelin production in oligodendrocytes.
SLC2A1/GLUT1, SLC1A3/EAAT1, and SLC1A2/EAAT2 were the main SLC proteins whereas ABCG2/BCRP, ABCB1/MDR1, ABCA2 and ABCA8 were the main ABC quantified in isolated brain microvessels
Title: Transcriptomic and quantitative proteomic analysis of transporters and drug metabolizing enzymes in freshly isolated human brain microvessels.
Observational study of gene-disease association. (HuGE Navigator)
Title: Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH103989 (e-PCR)
- UniSTS:98314

SHGC-107731 (e-PCR)
- UniSTS:173853

PMC156606P1 (e-PCR)
- UniSTS:271408

D8S2278 (e-PCR)
- UniSTS:473906

SHGC-85710 (e-PCR)
- UniSTS:103743

ABCA8_2250 (e-PCR)
- UniSTS:280417

RH46167 (e-PCR)
- UniSTS:24459

RH78733 (e-PCR)
- UniSTS:60075

RH120606 (e-PCR)
- UniSTS:132548

ABCA8_1040 (e-PCR)
- UniSTS:276945

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 ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables ATPase-coupled transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
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

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
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
is_active_in intracellular membrane-bounded organelle	IBA Inferred from Biological aspect of Ancestor more info
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

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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)

NM_001288985.2 → NP_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:235 → 790

rim_protein; retinal-specific rim ABC transporter

cd03263
Location:480 → 703

ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
NM_001288986.2 → NP_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:480 → 703

ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A

COG1131
Location:1273 → 1592

CcmA; ABC-type multidrug transport system, ATPase component [Defense mechanisms]

pfam12698
Location:225 → 418

ABC2_membrane_3; ABC-2 family transporter protein

pfam12730
Location:1010 → 1175

ABC2_membrane_4; ABC-2 family transporter protein

cl00473
Location:266 → 373

BI-1-like; BAX inhibitor (BI)-1/YccA-like protein family
NM_001375771.1 → NP_001362700.1 ABC-type organic anion transporter ABCA8 isoform 4

Status: REVIEWED

Source sequence(s)

AC005922, AC015844

Conserved Domains (2) summary

TIGR01257
Location:174 → 729

rim_protein; retinal-specific rim ABC transporter

cd03263
Location:419 → 642

ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
NM_001375772.1 → NP_001362701.1 ABC-type organic anion transporter ABCA8 isoform 5

Status: REVIEWED

Source sequence(s)

AC005922, AC015844

Conserved Domains (2) summary

TIGR01257
Location:559 → 1124

rim_protein; retinal-specific rim ABC transporter

cd03263
Location:811 → 1032

ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
NM_007168.4 → NP_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:1245 → 1466

ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A

COG1131
Location:1238 → 1557

CcmA; ABC-type multidrug transport system, ATPase component [Defense mechanisms]

pfam12698
Location:225 → 418

ABC2_membrane_3; ABC-2 family transporter protein

pfam12730
Location:970 → 1135

ABC2_membrane_4; ABC-2 family transporter protein

cl00473
Location:266 → 373

BI-1-like; BAX inhibitor (BI)-1/YccA-like protein family

cl21455
Location:480 → 663

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

68867289..68955392 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

A1L3U3, C9JQE6, O94911, Q86WW0
XM_047435109.1 → XP_047291065.1 ABC-type organic anion transporter ABCA8 isoform X2
XM_011524192.4 → XP_011522494.1 ABC-type organic anion transporter ABCA8 isoform X3

UniProtKB/TrEMBL

B4DJ11

Conserved Domains (4) summary

cd03263
Location:480 → 703

ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A

COG1131
Location:478 → 756

CcmA; ABC-type multidrug transport system, ATPase component [Defense mechanisms]

pfam12698
Location:225 → 418

ABC2_membrane_3; ABC-2 family transporter protein

cl00473
Location:266 → 373

BI-1-like; BAX inhibitor (BI)-1/YccA-like protein family

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

69744197..69832305 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

A1L3U3, C9JQE6, O94911, Q86WW0
XM_054314685.1 → XP_054170660.1 ABC-type organic anion transporter ABCA8 isoform X2
XM_054314686.1 → XP_054170661.1 ABC-type organic anion transporter ABCA8 isoform X3