Homo sapiens Gene: ANKH
Summary
InnateDB Gene IDBG-13106.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ANKH
Gene Name ankylosis, progressive homolog (mouse)
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000154122
Encoded Proteins
ankylosis, progressive homolog (mouse)
ankylosis, progressive homolog (mouse)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 5:14704804-14871778
Strand Reverse strand
Band p15.2
Transcripts
ENST00000284268 ENSP00000284268
ENST00000502585
ENST00000503939
ENST00000515517
ENST00000513115
ENST00000503389
ENST00000505140 ENSP00000426332
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005315 inorganic phosphate transmembrane transporter activity
GO:0015114 phosphate ion transmembrane transporter activity
GO:0030504 inorganic diphosphate transmembrane transporter activity
Biological Process
GO:0001501 skeletal system development
GO:0007626 locomotory behavior
GO:0030500 regulation of bone mineralization
GO:0030505 inorganic diphosphate transport
GO:0035435 phosphate ion transmembrane transport
Cellular Component
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016021 integral component of membrane
GO:0019867 outer membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
Regulators of bone mineralization [Biocarta view]
PID NCI
Cross-References
SwissProt Q9HCJ1
TrEMBL B3KMG4
UniProt Splice Variant
Entrez Gene 56172
UniGene Hs.156727 Hs.702148
RefSeq NM_054027 XM_006714483
HUGO HGNC:15492
OMIM 605145
CCDS CCDS3885
HPRD 05509
IMGT
EMBL AB046801 AC010491 AC016575 AC025456 AF274753 AK001799 AK315012 AY358503 BC009835 BC014526 CH471102
GenPept AAF88039 AAH09835 AAH14526 AAQ88867 BAB13407 BAG37504 BAG50976 EAX08034 EAX08035
RNA Seq Atlas 56172