InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ANKH

Summary

InnateDB Protein

IDBP-13110.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ANKH

Protein Name

ankylosis, progressive homolog (mouse)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000284268

InnateDB Gene

IDBG-13106 (ANKH)

Protein Structure

UniProt Annotation

Function

Regulates intra- and extracellular levels of inorganic pyrophosphate (PPi), probably functioning as PPi transporter.

Subcellular Localization

Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.

Disease Associations

Chondrocalcinosis 2 (CCAL2) [MIM:118600]: Chondrocalcinosis is a common cause of joint pain and arthritis caused by calcium deposition in articular cartilage and the presence of calcium hypophosphate crystals in synovial fluid, cartilage and periarticular soft tissue. CCAL2 inheritance is autosomal dominant. {ECO:0000269PubMed:12297987, ECO:0000269PubMed:12297989, ECO:0000269PubMed:13130483}. Note=The disease is caused by mutations affecting the gene represented in this entry.Craniometaphyseal dysplasia, autosomal dominant (CMDD) [MIM:123000]: An osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy. {ECO:0000269PubMed:11326272, ECO:0000269PubMed:11326338}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Found in osteoblasts from mandibular bone and from iliac bone; not detected in osteoclastic cells.

Comments

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