PKDCC
entrez
91461
canonical
uniprot
Q504Y2
canonical
ensembl
ENSG00000162878
resolver
ensp
ENSP00000294964
resolver
enst
ENST00000294964
resolver
genesymbol
PKDCC
resolver
genesymbol_syn
SGK493
resolver
genesymbol_syn
VLK
resolver
hgnc
HGNC:25123
resolver
uniprot
D6W5A0
resolver
uniprot
Q96I09
resolver
uniprot_entry
PKDCC_HUMAN
resolver
uniprot_sec
D6W5A0
resolver
uniprot_sec
Q96I09
resolver
amino_acid_sequence
MRRRRAAVAAGFCASFLLGSVLNVLFAPGSEPPRPGQSPEPSPAPGPGRRGGRGELARQIRARYEEVQRYSRGGPGPGAGRPERRRLMDLAPGGPGLPRPRPPWARPLSDGAPGWPPAPGPGSPGPGPRLGCAALRNVSGAQYMGSGYTKAVYRVRLPGGAAVALKAVDFSGHDLGSCVREFGVRRGCYRLAAHKLLKEMVLLERLRHPNVLQLYGYCYQDSEDIPDTLTTITELGAPVEMIQLLQTSWEDRFRICLSLGRLLHHLAHSPLGSVTLLDFRPRQFVLVDGELKVTDLDDARVEETPCAGSTDCILEFPARNFTLPCSAQGWCEGMNEKRNLYNAYRFFFTYLLPHSAPPSLRPLLDSIVNATGELAWGVDETLAQLEKVLHLYRSGQYLQNSTASSSTEYQCIPDSTIPQEDYRCWPSYHHGSCLLSVFNLAEAVDVCESHAQCRAFVVTNQTTWTGRQLVFFKTGWSQVVPDPNKTTYVKASG
uniprot
proteins
disease_involvement
DISEASE: Rhizomelic limb shortening with dysmorphic features (RLSDF) [MIM:618821]: An autosomal recessive skeletal dysplasia characterized by rhizomelic shortening of limbs as well as variable dysmorphic features, including macrocephaly, short neck, micrognathia, mild proptosis, downslanting palpebral fissures, depressed or broad nasal bridge and long philtrum. {ECO:0000269|PubMed:30478137}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.10.2
uniprot
proteins
function
FUNCTION: Secreted tyrosine-protein kinase that mediates phosphorylation of extracellular proteins and endogenous proteins in the secretory pathway, which is essential for patterning at organogenesis stages. Mediates phosphorylation of MMP1, MMP13, MMP14, MMP19 and ERP29 (PubMed:25171405). Probably plays a role in platelets: rapidly and quantitatively secreted from platelets in response to stimulation of platelet degranulation (PubMed:25171405). May also have serine/threonine protein kinase activity. Required for longitudinal bone growth through regulation of chondrocyte differentiation. May be indirectly involved in protein transport from the Golgi apparatus to the plasma membrane (By similarity). {ECO:0000250|UniProtKB:Q5RJI4, ECO:0000269|PubMed:25171405}.
uniprot
proteins
mass_dalton
54132
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000250|UniProtKB:Q5RJI4}.; PTM: Phosphorylated on tyrosines; probably via autophosphorylation. {ECO:0000250|UniProtKB:Q5RJI4}.
uniprot
proteins
protein_family
Protein kinase superfamily
uniprot
proteins
pubmed
12471243
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
25171405
uniprot
proteins
pubmed
30478137
uniprot
proteins
sequence_length
493
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:25171405}. Golgi apparatus {ECO:0000250|UniProtKB:Q5RJI4}.
uniprot
proteins