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

    Gene ID: 23461, updated on 5-Jan-2025

    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; 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
    NEW
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    Genomic context

    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

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

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

    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

    General gene information

    Clone Names

    • FLJ16381, DKFZp451F117, DKFZp779N2435

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ABC-type transporter activity  
    enables ATP binding  
    enables ATP hydrolysis activity  
    enables ATPase-coupled transmembrane transporter activity  
    enables lipid transporter activity  
    enables lipid transporter activity  
    Process Evidence Code Pubs
    involved_in cholesterol efflux PubMed 
    involved_in cholesterol homeostasis PubMed 
    involved_in cholesterol metabolic process PubMed 
    involved_in high-density lipoprotein particle remodeling PubMed 
    involved_in lipid transport  
    involved_in lipid transport  
    involved_in negative regulation of macrophage derived foam cell differentiation PubMed 
    involved_in positive regulation of reverse cholesterol transport  
    involved_in regulation of cholesterol efflux PubMed 
    involved_in regulation of cholesterol efflux  
    involved_in reverse cholesterol transport PubMed 
    involved_in transmembrane transport  
    Component Evidence Code Pubs
    located_in Golgi membrane  
    is_active_in late endosome  
    located_in late endosome PubMed 
    located_in late endosome membrane  
    located_in lysosomal membrane  
    located_in lysosome PubMed 
    located_in plasma membrane  

    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)

    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_018672.5NP_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
      Q8IVJ2, Q8WWZ7, Q96LJ1, Q96MS4, Q96PZ9, 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
      Q8IVJ2, Q8WWZ7, Q96LJ1, Q96MS4, Q96PZ9, Q9NY14
      Related
      ENSP00000376443.2, ENST00000392676.8
      Conserved Domains (1) summary
      TIGR01257
      Location:841618
      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)
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