ANKH
entrez
56172
canonical
uniprot
Q9HCJ1
canonical
ensembl
ENSG00000154122
resolver
ensp
ENSP00000284268
resolver
ensp
ENSP00000648946
resolver
genesymbol
ANKH
resolver
genesymbol_syn
KIAA1581
resolver
hgnc
HGNC:15492
resolver
uniprot
B2RCA7
resolver
uniprot
B3KMG4
resolver
uniprot
D3DTD4
resolver
uniprot
Q9NQW2
resolver
uniprot_entry
ANKH_HUMAN
resolver
uniprot_sec
B2RCA7
resolver
uniprot_sec
B3KMG4
resolver
uniprot_sec
D3DTD4
resolver
uniprot_sec
Q9NQW2
resolver
amino_acid_sequence
MVKFPALTHYWPLIRFLVPLGITNIAIDFGEQALNRGIAAVKEDAVEMLASYGLAYSLMKFFTGPMSDFKNVGLVFVNSKRDRTKAVLCMVVAGAIAAVFHTLIAYSDLGYYIINKLHHVDESVGSKTRRAFLYLAAFPFMDAMAWTHAGILLKHKYSFLVGCASISDVIAQVVFVAILLHSHLECREPLLIPILSLYMGALVRCTTLCLGYYKNIHDIIPDRSGPELGGDATIRKMLSFWWPLALILATQRISRPIVNLFVSRDLGGSSAATEAVAILTATYPVGHMPYGWLTEIRAVYPAFDKNNPSNKLVSTSNTVTAAHIKKFTFVCMALSLTLCFVMFWTPNVSEKILIDIIGVDFAFAELCVVPLRIFSFFPVPVTVRAHLTGWLMTLKKTFVLAPSSVLRIIVLIASLVVLPYLGVHGATLGVGSLLAGFVGESTMVAIAACYVYRKQKKKMENESATEGEDSAMTDMPPTEEVTDIVEMREENE
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:12297987, ECO:0000269|PubMed:12297989, ECO:0000269|PubMed:13130483}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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:0000269|PubMed:11326272, ECO:0000269|PubMed:11326338}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=A missense variant of ANKH cosegregates with a complex phenotype according to an autosomal recessive pattern. Affected homozygous individuals from a large consanguinous family show sensorineural and conductive hearing loss, intellectual disability, spinal ankylosis, and periarticular calcification of small joints. Only a mild arthropathy is observed in heterozygous individuals. {ECO:0000269|PubMed:20943778}.
uniprot
proteins
function
FUNCTION: Transports adenosine triphosphate (ATP) and possibly other nucleoside triphosphates (NTPs) from cytosol to the extracellular space. Mainly regulates their levels locally in peripheral tissues while playing a minor systemic role. Prevents abnormal ectopic mineralization of the joints by regulating the extracellular levels of the calcification inhibitor inorganic pyrophosphate (PPi), which originates from the conversion of extracellular NTPs to NMPs and PPis by ENPP1 (PubMed:20943778, PubMed:32639996, PubMed:35147247). Regulates the release of the TCA cycle intermediates to the extracellular space, in particular citrate, succinate and malate. Extracellular citrate mostly present in bone tissue is required for osteogenic differentiation of mesenchymal stem cells, stabilization of hydroxyapatite structure and overall bone strength (PubMed:32639996). The transport mechanism remains to be elucidated (Probable). {ECO:0000269|PubMed:20943778, ECO:0000269|PubMed:32639996, ECO:0000269|PubMed:35147247, ECO:0000305|PubMed:32639996, ECO:0000305|PubMed:35147247}.
uniprot
proteins
mass_dalton
54241
uniprot
proteins
protein_family
ANKH family
uniprot
proteins
pubmed
10894769
uniprot
proteins
pubmed
10997877
uniprot
proteins
pubmed
11326272
uniprot
proteins
pubmed
11326338
uniprot
proteins
pubmed
12297987
uniprot
proteins
pubmed
12297989
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
13130483
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
20943778
uniprot
proteins
pubmed
32639996
uniprot
proteins
pubmed
35147247
uniprot
proteins
sequence_length
492
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:20943778}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 86..106; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 132..152; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 159..179; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 190..210; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 327..347; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 351..371; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 404..426; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 430..452; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins