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

Gene ID: 23461, updated on 8-Jul-2018
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; Vega:OTTHUMG00000180303
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
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
See ABCA5 in Genome Data Viewer
Location:
17q24.3
Exon count:
39
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (69244435..69327182, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (67240576..67323323, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATP binding cassette subfamily A member 6 Neighboring gene microRNA 4524b Neighboring gene microRNA 4524a 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 uncharacterized LOC105371879 Neighboring gene mitogen-activated protein kinase kinase 6 Neighboring gene uncharacterized LOC105371880

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

  • ABC transporters, organism-specific biosystem (from KEGG)
    ABC transporters, organism-specific biosystemThe ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of ...
  • ABC transporters, conserved biosystem (from KEGG)
    ABC transporters, conserved biosystemThe ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of ...
  • ABC transporters in lipid homeostasis, organism-specific biosystem (from REACTOME)
    ABC transporters in lipid homeostasis, organism-specific biosystemA defined subset of the ABC transporter superfamily, the ABCA transporters, are highly expressed in monocytes and macrophages and are regulated by cholesterol flux which may indicate their role in in...
  • ABC-family proteins mediated transport, organism-specific biosystem (from REACTOME)
    ABC-family proteins mediated transport, organism-specific biosystemThe ATP-binding cassette (ABC) superfamily of active transporters involves a large number of functionally diverse transmembrane proteins. They transport a variety of compounds through membranes agai...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ16381, DKFZp451F117, DKFZp779N2435

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATPase activity, coupled to transmembrane movement of substances IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lipid transporter activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
cholesterol efflux ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
high-density lipoprotein particle remodeling ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
lipid transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of macrophage derived foam cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
reverse cholesterol transport IC
Inferred by Curator
more info
PubMed 
transmembrane transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
late endosome ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
late endosome membrane IEA
Inferred from Electronic Annotation
more info
 
lysosomal membrane TAS
Traceable Author Statement
more info
 
lysosome ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Preferred Names
ATP-binding cassette sub-family A member 5
Names
ATP-binding cassette A5
ATP-binding cassette, sub-family A (ABC1), member 5

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
    5001..87748
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_018672.4NP_061142.2  ATP-binding cassette sub-family A member 5

    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
    Related
    ENSP00000467882.1, OTTHUMP00000263874, ENST00000588877.5, OTTHUMT00000450655
    Conserved Domains (4) summary
    cd03263
    Location:12901521
    ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
    COG1131
    Location:476788
    CcmA; ABC-type multidrug transport system, ATPase component [Defense mechanisms]
    pfam12698
    Location:214416
    ABC2_membrane_3; ABC-2 family transporter protein
    pfam12730
    Location:202403
    ABC2_membrane_4; ABC-2 family transporter protein
  2. NM_172232.3NP_758424.1  ATP-binding cassette sub-family A member 5

    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
    Related
    ENSP00000376443.2, OTTHUMP00000263873, ENST00000392676.7, OTTHUMT00000450654
    Conserved Domains (4) summary
    cd03263
    Location:12901521
    ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
    COG1131
    Location:476788
    CcmA; ABC-type multidrug transport system, ATPase component [Defense mechanisms]
    pfam12698
    Location:214416
    ABC2_membrane_3; ABC-2 family transporter protein
    pfam12730
    Location:202403
    ABC2_membrane_4; ABC-2 family transporter protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    69244435..69327182 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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