InnateDB Protein
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IDBP-13110.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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ANKH
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Protein Name
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ankylosis, progressive homolog (mouse)
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000284268
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InnateDB Gene
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IDBG-13106 (ANKH)
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Protein Structure
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Function |
Regulates intra- and extracellular levels of inorganic pyrophosphate (PPi), probably functioning as PPi transporter.
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Subcellular Localization |
Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
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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.
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Tissue Specificity |
Found in osteoblasts from mandibular bone and from iliac bone; not detected in osteoclastic cells.
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
3
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
Accession |
GO Term |
GO:0005315
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inorganic phosphate transmembrane transporter activity
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GO:0015114
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phosphate ion transmembrane transporter activity
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GO:0030504
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inorganic diphosphate transmembrane transporter activity
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR009887
Progressive ankylosis
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PFAM |
PF07260
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9HCJ1
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PhosphoSite |
PhosphoSite-Q9HCJ1
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TrEMBL |
B3KMG4
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UniProt Splice Variant |
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Entrez Gene |
56172
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UniGene |
Hs.702148
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RefSeq |
NP_473368
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HUGO |
HGNC:15492
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OMIM |
605145
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CCDS |
CCDS3885
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HPRD |
05509
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IMGT |
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EMBL |
AB046801
AC010491
AC016575
AC025456
AF274753
AK001799
AK315012
AY358503
BC009835
BC014526
CH471102
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GenPept |
AAF88039
AAH09835
AAH14526
AAQ88867
BAB13407
BAG37504
BAG50976
EAX08034
EAX08035
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