U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 23461, updated on 5-Mar-2024

Summary

Go to the top of the page Help
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
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See ABCA5 in Genome Data Viewer
Location:
17q24.3
Exon count:
39
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (69244311..69327133, complement)
RS_2023_10 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 Sharpr-MPRA regulatory region 12590 Neighboring gene ATP binding cassette subfamily A member 6 Neighboring gene microRNA 4524b Neighboring gene microRNA 4524a Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12652 Neighboring gene Sharpr-MPRA regulatory region 12537 Neighboring gene MPRA-validated peak2964 silencer Neighboring gene ATP binding cassette subfamily A member 10 Neighboring gene MPRA-validated peak2965 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:67209122-67210042 Neighboring gene MPRA-validated peak2966 silencer Neighboring gene uncharacterized LOC100133319 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8905 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8906 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12653 Neighboring gene uncharacterized LOC105371878 Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 4 Neighboring gene uncharacterized LOC124900401 Neighboring gene uncharacterized LOC105371879

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Exome sequencing reveals the first intragenic deletion in ABCA5 underlying autosomal recessive hypertrichosis. Raza R, et al. Clin Exp Dermatol, 2022 Jun 1. PMID 35150007
  2. ABCA5 regulates amyloid-β peptide production and is associated with Alzheimer's disease neuropathology. Fu Y, et al. J Alzheimers Dis, 2015. PMID 25125465
  3. Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth. DeStefano GM, et al. PLoS Genet, 2014. PMID 24831815, Free PMC Article
  4. Changes in sphingomyelin level affect alpha-synuclein and ABCA5 expression. Kim WS, et al. J Parkinsons Dis, 2012. PMID 23939407
  5. ATP-binding cassette transporter ABCB5 gene is expressed with variability in malignant melanoma. Vásquez-Moctezuma I, et al. Actas Dermosifiliogr, 2010 May. PMID 20487690

See all (30) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Cholesterol homeostasis in hair follicle keratinocytes is disrupted by impaired ABCA5 activity.
    Title: Cholesterol homeostasis in hair follicle keratinocytes is disrupted by impaired ABCA5 activity.
  2. Exome sequencing reveals the first intragenic deletion in ABCA5 underlying autosomal recessive hypertrichosis.
    Title: Exome sequencing reveals the first intragenic deletion in ABCA5 underlying autosomal recessive hypertrichosis.
  3. Localisation and regulation of cholesterol transporters in the human hair follicle: mapping changes across the hair cycle.
    Title: Localisation and regulation of cholesterol transporters in the human hair follicle: mapping changes across the hair cycle.
  4. Novel Mechanism of Cholesterol Transport by ABCA5 in Macrophages and Its Role in Dyslipidemia.
    Title: Novel Mechanism of Cholesterol Transport by ABCA5 in Macrophages and Its Role in Dyslipidemia.
  5. This report represents the first extensive expression and functional study of ABCA5 in the human brain and our data suggest a plausible function of ABCA5 in the brain as a cholesterol transporter associated with Abeta generation
    Title: ABCA5 regulates amyloid-β peptide production and is associated with Alzheimer's disease neuropathology.
  6. our findings support ABCA5 as a gene underlying the congenital generalized hypertrichosis terminalis phenotype and suggest a novel, previously unrecognized role for this gene in regulating hair growth.
    Title: Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth.
  7. The expression of ABCA5 was significantly elevated in parkinson disease brains compared to age- and gender-matched control brains.
    Title: Changes in sphingomyelin level affect alpha-synuclein and ABCA5 expression.
  8. Identification of CBX3 and ABCA5 as putative biomarkers for tumor stem cells in osteosarcoma.
    Title: Identification of CBX3 and ABCA5 as putative biomarkers for tumor stem cells in osteosarcoma.
  9. The ABCB5 gene may be related to the properties of chemoresistance and aggressiveness of melanoma
    Title: ATP-binding cassette transporter ABCB5 gene is expressed with variability in malignant melanoma.
  10. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.
Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Gingival fibromatosis-hypertrichosis syndrome
MedGen: C1851120 OMIM: 135400 GeneReviews: Not available
not available

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

Go to the top of the page Help

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

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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
  
enables lipid transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
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
  
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
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
  
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

Go to the top of the page Help
Preferred Names
cholesterol transporter ABCA5
Names
ATP-binding cassette A5
ATP-binding cassette, sub-family A (ABC1), member 5

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_018672.5 → NP_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
    Q8IVJ2, Q8WWZ7, Q96LJ1, Q96MS4, Q96PZ9, Q9NY14
    Related
    ENSP00000467882.1, ENST00000588877.5
    Conserved Domains (1) summary
    TIGR01257
    Location:84 → 1618
    rim_protein; retinal-specific rim ABC transporter

  2. NM_172232.4 → NP_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
    Q8IVJ2, Q8WWZ7, Q96LJ1, Q96MS4, Q96PZ9, Q9NY14
    Related
    ENSP00000376443.2, ENST00000392676.8
    Conserved Domains (1) summary
    TIGR01257
    Location:84 → 1618
    rim_protein; retinal-specific rim ABC transporter

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

  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)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8WWZ7.2 GenPept UniProtKB/Swiss-Prot:Q8WWZ7

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous