Format

Send to:

Choose Destination

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

Gene ID: 56172, updated on 24-Nov-2020

Summary

Official Symbol
ANKHprovided by HGNC
Official Full Name
ANKH inorganic pyrophosphate transport regulatorprovided by HGNC
Primary source
HGNC:HGNC:15492
See related
Ensembl:ENSG00000154122 MIM:605145
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; SLC62A1
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]
Expression
Ubiquitous expression in prostate (RPKM 21.9), brain (RPKM 17.0) and 25 other tissues See more
Orthologs

Genomic context

See ANKH in Genome Data Viewer
Location:
5p15.2
Exon count:
14
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 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 small nucleolar RNA, C/D box 141B Neighboring gene OTULIN divergent transcript Neighboring gene OTU deubiquitinase with linear linkage specificity Neighboring gene uncharacterized LOC100130744 Neighboring gene RBBP4 pseudogene 1 Neighboring gene microRNA 4637 Neighboring gene heterogeneous nuclear ribonucleoprotein K pseudogene 5 Neighboring gene ubiquinol-cytochrome c reductase binding protein pseudogene 3

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
An atlas of genetic influences on human blood metabolites.
GeneReviews: Not available
Craniometaphyseal dysplasia, autosomal dominant Compare labs
Familial calcium pyrophosphate deposition
MedGen: C0856830 OMIM: 118600 GeneReviews: Not available
Compare labs
Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 IBA
Inferred from Biological aspect of Ancestor
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
 

General protein information

Preferred Names
progressive ankylosis protein homolog
Names
ankylosis, progressive homolog

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_008273.2 RefSeqGene

    Range
    5008..171986
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_054027.6NP_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
    ENSP00000284268.6, ENST00000284268.8
    Conserved Domains (1) summary
    pfam07260
    Location:1345
    ANKH; Progressive ankylosis protein (ANKH)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017009644.2XP_016865133.1  progressive ankylosis protein homolog isoform X1

  2. XM_011514067.1XP_011512369.1  progressive ankylosis protein homolog isoform X2

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