DMP1
entrez
1758
canonical
uniprot
Q13316
canonical
ensembl
ENSG00000152592
resolver
ensp
ENSP00000282479
resolver
ensp
ENSP00000340935
resolver
genesymbol
DMP1
resolver
hgnc
HGNC:2932
resolver
uniprot
A1L4L3
resolver
uniprot
O43265
resolver
uniprot_entry
DMP1_HUMAN
resolver
uniprot_sec
A1L4L3
resolver
uniprot_sec
O43265
resolver
amino_acid_sequence
MKISILLMFLWGLSCALPVTRYQNNESEDSEEWKGHLAQAPTPPLESSESSEGSKVSSEEQANEDPSDSTQSEEGLGSDDHQYIYRLAGGFSRSTGKGGDDKDDDEDDSGDDTFGDDDSGPGPKDRQEGGNSRLGSDEDSDDTIQASEESAPQGQDSAQDTTSESRELDNEDRVDSKPEGGDSTQESESEEHWVGGGSDGESSHGDGSELDDEGMQSDDPESIRSERGNSRMNSAGMKSKESGENSEQANTQDSGGSQLLEHPSRKIFRKSRISEEDDRSELDDNNTMEEVKSDSTENSNSRDTGLSQPRRDSKGDSQEDSKENLSQEESQNVDGPSSESSQEANLSSQENSSESQEEVVSESRGDNPDPTTSYVEDQEDSDSSEEDSSHTLSHSKSESREEQADSESSESLNFSEESPESPEDENSSSQEGLQSHSSSAESQSEESHSEEDDSDSQDSSRSKEDSNSTESKSSSEEDGQLKNIEIESRKLTVDAYHNKPIGDQDDNDCQDGY
uniprot
proteins
disease_involvement
DISEASE: Hypophosphatemic rickets, autosomal recessive, 1 (ARHR1) [MIM:241520]: A hereditary form of hypophosphatemic rickets, a disorder of proximal renal tubule function that causes phosphate loss, hypophosphatemia and skeletal deformities, including rickets and osteomalacia unresponsive to vitamin D. Symptoms are bone pain, fractures and growth abnormalities. {ECO:0000269|PubMed:17033621, ECO:0000269|PubMed:17033625}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May have a dual function during osteoblast differentiation. In the nucleus of undifferentiated osteoblasts, unphosphorylated form acts as a transcriptional component for activation of osteoblast-specific genes like osteocalcin. During the osteoblast to osteocyte transition phase it is phosphorylated and exported into the extracellular matrix, where it regulates nucleation of hydroxyapatite. {ECO:0000269|PubMed:12615915}.
uniprot
proteins
mass_dalton
55782
uniprot
proteins
post_translational_modification
PTM: Phosphorylated in the cytosol and extracellular matrix and unphosphorylated in the nucleus. Phosphorylation is necessary for nucleocytoplasmic transport and may be catalyzed by a nuclear isoform of CK2 and can be augmented by calcium. Phosphorylated (in vitro) by FAM20C in the extracellular medium at sites within the S-x-E/pS motif. {ECO:0000269|PubMed:12615915, ECO:0000269|PubMed:22582013}.
uniprot
proteins
pubmed
12615915
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17033621
uniprot
proteins
pubmed
17033625
uniprot
proteins
pubmed
22582013
uniprot
proteins
pubmed
8586437
uniprot
proteins
pubmed
9177774
uniprot
proteins
sequence_length
513
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12615915}. Cytoplasm {ECO:0000269|PubMed:12615915}. Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:12615915}. Note=In proliferating preosteoblasts it is nuclear, during early maturation stage is cytoplasmic and in mature osteoblast localizes in the mineralized matrix. Export from the nucleus of differentiating osteoblast is triggered by the release of calcium from intracellular stores followed by a massive influx of this pool of calcium into the nucleus.
uniprot
proteins