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ABCA5 ATP binding cassette subfamily A member 5 [ Homo sapiens (human) ]

Gene ID: 23461, updated on 8-Dec-2022

Summary

Official Symbol
ABCA5provided by HGNC
Official Full Name
ATP binding cassette subfamily A member 5provided by HGNC
Primary source
HGNC:HGNC:35
See related
Ensembl:ENSG00000154265 MIM:612503; AllianceGenome:HGNC:35
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
Also known as
HTC3; ABC13; EST90625
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, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in skin (RPKM 10.7), small intestine (RPKM 5.7) and 25 other tissues See more
Orthologs
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Genomic context

See ABCA5 in Genome Data Viewer
Location:
17q24.3
Exon count:
39
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (69244311..69327133, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (70120918..70203761, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (67240452..67323274, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATP binding cassette subfamily A member 6 Neighboring gene Sharpr-MPRA regulatory region 12590 Neighboring gene ATP binding cassette subfamily A member 10 Neighboring gene uncharacterized LOC100133319 Neighboring gene uncharacterized LOC105371878 Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 4 Neighboring gene small nucleolar RNA SNORA40 Neighboring gene uncharacterized LOC105371879

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?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Vpr vpr HIV-1 Vpr is identified to have a physical interaction with ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ16381, DKFZp451F117, DKFZp779N2435

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ABC-type transporter activity IEA
Inferred from Electronic Annotation
more info
 
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
PubMed 
enables lipid transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables lipid transporter activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
involved_in cholesterol efflux ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in cholesterol homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cholesterol metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in high-density lipoprotein particle remodeling ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in lipid transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in lipid transport TAS
Traceable Author Statement
more info
 
involved_in negative regulation of macrophage derived foam cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in positive regulation of reverse cholesterol transport ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of cholesterol efflux IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of cholesterol efflux ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in reverse cholesterol transport IC
Inferred by Curator
more info
PubMed 
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in late endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in late endosome ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
located_in late endosome membrane IEA
Inferred from Electronic Annotation
more info
 
located_in lysosomal membrane TAS
Traceable Author Statement
more info
 
located_in lysosome ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
cholesterol transporter ABCA5
Names
ATP-binding cassette A5
ATP-binding cassette, sub-family A (ABC1), member 5

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.

Genomic

  1. NG_034199.1 RefSeqGene

    Range
    5050..87872
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_018672.5NP_061142.2  cholesterol transporter ABCA5

    See identical proteins and their annotated locations for NP_061142.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript variant. It contains a distinct 5' UTR compared to transcript variant 2, but encodes the same protein.
    Source sequence(s)
    AC005495, AC115085, AJ275973, AK058170, AY028897, KF456324
    Consensus CDS
    CCDS11685.1
    UniProtKB/Swiss-Prot
    Q8WWZ7, Q9NY14
    Related
    ENSP00000467882.1, ENST00000588877.5
    Conserved Domains (1) summary
    TIGR01257
    Location:841618
    rim_protein; retinal-specific rim ABC transporter
  2. NM_172232.4NP_758424.1  cholesterol transporter ABCA5

    See identical proteins and their annotated locations for NP_758424.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the shorter transcript variant. It contains a distinct 5' UTR compared to transcript variant 1, but encodes the same protein.
    Source sequence(s)
    AC005495, AC115085, AJ275973, AK058170, DB096625, KF456324
    Consensus CDS
    CCDS11685.1
    UniProtKB/Swiss-Prot
    Q8WWZ7, Q9NY14
    Related
    ENSP00000376443.2, ENST00000392676.8
    Conserved Domains (1) summary
    TIGR01257
    Location:841618
    rim_protein; retinal-specific rim ABC transporter

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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
    69244311..69327133 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    70120918..70203761 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)