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    ABCA13 ATP-binding cassette, sub-family A (ABC1), member 13 [ Homo sapiens ]

    Gene ID: 154664, updated on 11-May-2012
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    Summary

    Official Symbol
    ABCA13provided by HGNC
    Official Full Name
    ATP-binding cassette, sub-family A (ABC1), member 13provided by HGNC
    Primary source
    HGNC:14638
    See related
    Ensembl:ENSG00000179869; HPRD:07422; MIM:607807; Vega:OTTHUMG00000155840
    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
    FLJ16398; FLJ33876; FLJ33951; DKFZp313D2411
    Summary
    In human, the ATP-binding cassette (ABC) family of transmembrane transporters has at least 48 genes and 7 gene subfamilies. This gene is a member of ABC gene subfamily A (ABCA). Genes within the ABCA family typically encode several thousand amino acids. Like other ABC transmembrane transporter proteins, this protein has 12 or more transmembrane alpha-helix domains that likely arrange to form a single central chamber with multiple substrate binding sites. It is also predicted to have two large extracellular domains and two nucleotide binding domains as is typical for ABCA proteins. Alternative splice variants have been described but their biological validity has not been demonstrated.[provided by RefSeq, Mar 2009]
    Annotation information
    Annotation category: suggests misassembly
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    Genomic context

    Location :
    7p12.3
    Sequence :
    Chromosome: 7; NC_000007.13 (48211057..48687091)
    See ABCA13 in Epigenomics, MapViewer

    Chromosome 7 - NC_000007.13Genomic Context describing neighboring genes Neighboring gene chromosome 7 open reading frame 57 Neighboring gene uridine phosphorylase 1 Neighboring gene CDC14 cell division cycle 14 C-like Neighboring gene GDP dissociation inhibitor 2 pseudogene 1

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614.
    2. A cytogenetic abnormality and rare coding variants identify ABCA13 as a candidate gene in schizophrenia, bipolar disorder, and depression. Knight HM, et al. Am J Hum Genet, 2009 Dec. PMID 19944402.
    3. A common variant in DRD3 receptor is associated with autism spectrum disorder. de Krom M, et al. Biol Psychiatry, 2009 Apr 1. PMID 19058789.
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039.
    5. The human ATP binding cassette gene ABCA13, located on chromosome 7p12.3, encodes a 5058 amino acid protein with an extracellular domain encoded in part by a 4.8-kb conserved exon. Prades C, et al. Cytogenet Genome Res, 2002. PMID 12697998.

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    2. ABCA13 is a candidate gene in schizophrenia, bipolar disorder, and depression
      Title: A cytogenetic abnormality and rare coding variants identify ABCA13 as a candidate gene in schizophrenia, bipolar disorder, and depression.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: A cytogenetic abnormality and rare coding variants identify ABCA13 as a candidate gene in schizophrenia, bipolar disorder, and depression.
    4. Description of a new gene that maps to chromosome 7.
      Title: The human ATP binding cassette gene ABCA13, located on chromosome 7p12.3, encodes a 5058 amino acid protein with an extracellular domain encoded in part by a 4.8-kb conserved exon.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:127551 BioGRID:106832 APOA1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:127551 BioGRID:106833 APOA2    BioGRID  PubMed Reconstituted Complex 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • 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 ...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    ATPase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    ATP-binding cassette sub-family A member 13
    Names
    ATP-binding cassette sub-family A member 13
    ATP binding cassette transporter A13
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    NCBI Reference Sequences (RefSeq)

    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_012385.1 RefSeqGene

      Range
      5001..481035
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_152701.3 → NP_689914.2  ATP-binding cassette sub-family A member 13

      Status: REVIEWED

      Source sequence(s)
      AC073424, AC073927, AF501281, AK131360, AY204751, CV361876
      Consensus CDS
      CCDS47584.1
      UniProtKB/Swiss-Prot
      Q86UQ4
      Related
      ENSP00000411096, OTTHUMP00000208774, ENST00000435803, OTTHUMT00000341964
      Conserved Domains (2) summary
      cd03263
      Location:4718 – 4944
      Blast Score: 718
      ABC_subfamily_A; The ABCA subfamily mediates the transport of a variety of lipid compounds. Mutations of members of ABCA subfamily are associated with human genetic diseases, such as, familial high-density lipoprotein (HDL) deficiency, neonatal surfactant deficiency, ...
      TIGR01257
      Location:3068 – 5048
      Blast Score: 2627
      rim_protein; retinal-specific rim ABC transporter

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000007.13 Reference GRCh37.p5 Primary Assembly

      Range
      48211057..48687091
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000139.1 Alternate HuRef

      Range
      48123477..48573410
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CRA_TCAGchr7v2

    Genomic

    1. AC_000068.1 Alternate CRA_TCAGchr7v2

      Range
      48250847..48729205
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC073424.8 (438..189140) None
    genomic AC073927.9 None
    genomic AC091770.5 (85089..93542) None
    genomic AC095039.3 None
    genomic AC232300.2 None
    genomic AC232312.2 (1..22566) None
    genomic CH236955.1 (2872752..3351110) None
    genomic CH471128.2 EAW60990.1
      EAW60991.1
      EAW60992.1
    genomic FJ770081.1 (149..1263) None
    mRNA AF501281.1 AAO59914.1
    mRNA AK091195.1 None
    mRNA AK091270.1 BAC03623.1
    mRNA AK126220.1 BAC86492.1
    mRNA AK128516.1 BAC87475.1
    mRNA AK128570.1 None
    mRNA AK131360.1 None
    mRNA AY204751.1 AAP13576.1
    mRNA BC062666.1 None
    mRNA CV361876.1 None
    mRNA BX647560.1 CAI46091.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5HYK4 GenPept UniProtKB/TrEMBL:Q5HYK4
    Q6ZR43 GenPept UniProtKB/TrEMBL:Q6ZR43
    Q86UQ4.3 GenPept UniProtKB/Swiss-Prot:Q86UQ4
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    Additional Links

    Additional Links

    Gene LinkOut

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

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