Format

Send to:

Choose Destination
    • Showing Current items.

    ABCA6 ATP binding cassette subfamily A member 6 [ Homo sapiens (human) ]

    Gene ID: 23460, updated on 8-Jul-2018
    Official Symbol
    ABCA6provided by HGNC
    Official Full Name
    ATP binding cassette subfamily A member 6provided by HGNC
    Primary source
    HGNC:HGNC:36
    See related
    Ensembl:ENSG00000154262 MIM:612504; Vega:OTTHUMG00000180258
    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
    EST155051
    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 and may play a role in macrophage lipid homeostasis. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in liver (RPKM 14.4), urinary bladder (RPKM 9.9) and 19 other tissues See more
    Orthologs
    See ABCA6 in Genome Data Viewer
    Location:
    17q24.2-q24.3
    Exon count:
    43
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (69062044..69141927, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (67074847..67138015, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371874 Neighboring gene ATP binding cassette subfamily A member 8 Neighboring gene ATP binding cassette subfamily A member 9 Neighboring gene ABCA9 antisense RNA 1 Neighboring gene SEC24 homolog A pseudogene 1 Neighboring gene microRNA 4524b Neighboring gene microRNA 4524a Neighboring gene ATP binding cassette subfamily A member 10 Neighboring gene uncharacterized LOC100133319 Neighboring gene ATP binding cassette subfamily A member 5 Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 4

    • 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?

    • 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

    • FLJ43498

    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 
    Process Evidence Code Pubs
    lipid transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    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 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    ATP-binding cassette sub-family A member 6
    Names
    ABC transporter ABCA6
    ATP-binding cassette A6
    ATP-binding cassette, sub-family A (ABC1), member 6

    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.

    mRNA and Protein(s)

    1. NM_080284.2NP_525023.2  ATP-binding cassette sub-family A member 6

      See identical proteins and their annotated locations for NP_525023.2

      Status: REVIEWED

      Source sequence(s)
      AY028898
      Consensus CDS
      CCDS11683.1
      UniProtKB/Swiss-Prot
      Q8N139
      Related
      ENSP00000284425.1, OTTHUMP00000263774, ENST00000284425.6, OTTHUMT00000450463
      Conserved Domains (3) summary
      cd03263
      Location:12961501
      ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
      COG1131
      Location:12751592
      CcmA; ABC-type multidrug transport system, ATPase component [Defense mechanisms]
      pfam12698
      Location:34375
      ABC2_membrane_3; 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
      69062044..69141927 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024404.2XP_016879893.1  ATP-binding cassette sub-family A member 6 isoform X1

      UniProtKB/Swiss-Prot
      Q8N139
      Conserved Domains (3) summary
      cd03263
      Location:12961501
      ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
      COG1131
      Location:12751592
      CcmA; ABC-type multidrug transport system, ATPase component [Defense mechanisms]
      pfam12698
      Location:34375
      ABC2_membrane_3; ABC-2 family transporter protein
    2. XM_017024405.2XP_016879894.1  ATP-binding cassette sub-family A member 6 isoform X1

      UniProtKB/Swiss-Prot
      Q8N139
      Conserved Domains (3) summary
      cd03263
      Location:12961501
      ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
      COG1131
      Location:12751592
      CcmA; ABC-type multidrug transport system, ATPase component [Defense mechanisms]
      pfam12698
      Location:34375
      ABC2_membrane_3; ABC-2 family transporter protein
    3. XM_017024406.1XP_016879895.1  ATP-binding cassette sub-family A member 6 isoform X2

    4. XM_017024407.1XP_016879896.1  ATP-binding cassette sub-family A member 6 isoform X2

    5. XM_011524574.2XP_011522876.1  ATP-binding cassette sub-family A member 6 isoform X4

      See identical proteins and their annotated locations for XP_011522876.1

      Conserved Domains (3) summary
      cd03263
      Location:9791184
      ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
      COG1131
      Location:9581275
      CcmA; ABC-type multidrug transport system, ATPase component [Defense mechanisms]
      pfam12698
      Location:549850
      ABC2_membrane_3; ABC-2 family transporter protein
    6. XM_017024408.2XP_016879897.1  ATP-binding cassette sub-family A member 6 isoform X5

    7. XM_024450683.1XP_024306451.1  ATP-binding cassette sub-family A member 6 isoform X3

      Conserved Domains (2) summary
      cd03263
      Location:478701
      ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
      cl28181
      Location:1741384
      AAA; ATPases associated with a variety of cellular activities

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_172346.1: Suppressed sequence

      Description
      NM_172346.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.
    Support Center