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    ANKH ANKH inorganic pyrophosphate transport regulator [ Homo sapiens (human) ]

    Gene ID: 56172, updated on 20-Aug-2016
    Official Symbol
    ANKHprovided by HGNC
    Official Full Name
    ANKH inorganic pyrophosphate transport regulatorprovided by HGNC
    Primary source
    HGNC:HGNC:15492
    See related
    Ensembl:ENSG00000154122 HPRD:05509; MIM:605145; Vega:OTTHUMG00000090539
    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
    ANK; CMDJ; HANK; MANK; CCAL2; CPPDD
    Summary
    This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. Progressive ankylosis-mediated control of pyrophosphate levels has been suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals. Mutations in this gene have been associated with autosomal dominant craniometaphyseal dysplasia. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    5p15.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 5 NC_000005.10 (14704800..14871778, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (14704909..14871887, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene chaperonin containing TCP1 subunit 6 pseudogene 2 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 13 Neighboring gene small nucleolar RNA, C/D box 141B Neighboring gene OTU deubiquitinase with linear linkage specificity Neighboring gene uncharacterized LOC100130744 Neighboring gene RB binding protein 4 pseudogene 1 Neighboring gene microRNA 4637 Neighboring gene heterogeneous nuclear ribonucleoprotein K pseudogene 5 Neighboring gene ubiquinol-cytochrome c reductase binding protein pseudogene 3

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Chondrocalcinosis 2
    MedGen: C0856830 OMIM: 118600 GeneReviews: Not available
    Compare labs
    Craniometaphyseal dysplasia, autosomal dominant Compare labs

    NHGRI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    NHGRI GWA Catalog
    Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ27166

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    inorganic diphosphate transport IEA
    Inferred from Electronic Annotation
    more info
     
    locomotory behavior NAS
    Non-traceable Author Statement
    more info
    PubMed 
    phosphate ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of bone mineralization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of bone mineralization TAS
    Traceable Author Statement
    more info
    PubMed 
    skeletal system development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    transmembrane transport TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    integral component of membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    outer membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    progressive ankylosis protein homolog
    Names
    ankylosis, progressive homolog

    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_008273.1 RefSeqGene

      Range
      5001..171979
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_054027.4NP_473368.1  progressive ankylosis protein homolog

      See identical proteins and their annotated locations for NP_473368.1

      Status: REVIEWED

      Source sequence(s)
      AC010491, BC009835, BQ008340, BU193060, DA126651
      Consensus CDS
      CCDS3885.1
      UniProtKB/Swiss-Prot
      Q9HCJ1
      Related
      ENSP00000284268, OTTHUMP00000115641, ENST00000284268, OTTHUMT00000207063
      Conserved Domains (2) summary
      pfam07260
      Location:1345
      ANKH; Progressive ankylosis protein (ANKH)
      cl09326
      Location:327438
      MATE_like; Multidrug and toxic compound extrusion family and similar proteins

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p7 Primary Assembly

      Range
      14704800..14871778 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017009644.1XP_016865133.1  

    2. XM_011514067.1XP_011512369.1  

      Conserved Domains (1) summary
      pfam07260
      Location:1337
      ANKH; Progressive ankylosis protein (ANKH)

    Alternate CHM1_1.1

    Genomic

    1. NC_018916.2 Alternate CHM1_1.1

      Range
      14704654..14871772 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)