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

Gene ID: 56172, updated on 19-Jul-2014
Official Symbol
ANKHprovided by HGNC
Official Full Name
ANKH inorganic pyrophosphate transport regulatorprovided by HGNC
Primary source
HGNC:15492
Locus tag
UNQ241/PRO274
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]
See ANKH in Epigenomics, MapViewer
Location:
5p15.1
Exon count:
13
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 eukaryotic translation elongation factor 1 alpha 1 pseudogene 13 Neighboring gene OTU deubiquitinase with linear linkage specificity Neighboring gene uncharacterized LOC100130744 Neighboring gene retinoblastoma 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
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 IDA
Inferred from Direct Assay
more info
PubMed 
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 
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
 
Preferred Names
progressive ankylosis protein homolog
Names
progressive ankylosis protein homolog
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 

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

mRNA and Protein(s)

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

    See proteins identical to 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
    Blast Score: 1689
    ANKH; Progressive ankylosis protein (ANKH)
    cl09326
    Location:327438
    Blast Score: 88
    MATE_like; Multidrug and toxic compound extrusion family and similar proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000005.10 

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

mRNA and Protein(s)

  1. XM_006714483.1XP_006714546.1  

    Conserved Domains (2) summary
    pfam07260
    Location:45357
    Blast Score: 1542
    ANKH; Progressive ankylosis protein (ANKH)
    cl09326
    Location:339450
    Blast Score: 91
    MATE_like; Multidrug and toxic compound extrusion family and similar proteins

Alternate HuRef

Genomic

  1. AC_000137.1 

    Range
    14677712..14844731
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018916.2 

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