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

    Gene ID: 23461, updated on 2-Nov-2024

    Summary

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    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; HTGH; ABC13; DEL17q24; 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
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    Genomic context

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    See ABCA5 in Genome Data Viewer
    Location:
    17q24.3
    Exon count:
    39
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (69244311..69327133, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (70120918..70203761, complement)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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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    Related articles in PubMed

    1. Cholesterol homeostasis in hair follicle keratinocytes is disrupted by impaired ABCA5 activity. Palmer MA, et al. Biochim Biophys Acta Mol Cell Biol Lipids, 2023 Sep. PMID 37348644
    2. 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
    3. ABCA5 regulates amyloid-β peptide production and is associated with Alzheimer's disease neuropathology. Fu Y, et al. J Alzheimers Dis, 2015. PMID 25125465
    4. 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
    5. Changes in sphingomyelin level affect alpha-synuclein and ABCA5 expression. Kim WS, et al. J Parkinsons Dis, 2012. PMID 23939407

    See all (32) 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

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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

    Associated conditions

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    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

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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

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    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_018672.5 → 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_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
      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.

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