Tag | Content |
---|---|
Uniprot ID | Q504Y2; D6W5A0; Q96I09; |
Entrez ID | 91461 |
Genbank protein ID | AAI10515.1; AAH07901.2; EAX00325.1; AAH62988.1; AAI10514.1; EAX00326.1; AAH94697.1; |
Genbank nucleotide ID | NM_138370.2 |
Ensembl protein ID | ENSP00000294964 |
Ensembl nucleotide ID | ENSG00000162878 |
Gene name | Extracellular tyrosine-protein kinase PKDCC |
Gene symbol | PKDCC |
Organism | Homo sapiens |
NCBI taxa ID | 9606 |
Cleft type | |
Developmental stage | |
Data sources | Homology search |
Reference | |
Functional description | 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). |
Sequence | MRRRRAAVAA GFCASFLLGS VLNVLFAPGS EPPRPGQSPE PSPAPGPGRR GGRGELARQI 60 RARYEEVQRY SRGGPGPGAG RPERRRLMDL APGGPGLPRP RPPWARPLSD GAPGWPPAPG 120 PGSPGPGPRL GCAALRNVSG AQYMGSGYTK AVYRVRLPGG AAVALKAVDF SGHDLGSCVR 180 EFGVRRGCYR LAAHKLLKEM VLLERLRHPN VLQLYGYCYQ DSEDIPDTLT TITELGAPVE 240 MIQLLQTSWE DRFRICLSLG RLLHHLAHSP LGSVTLLDFR PRQFVLVDGE LKVTDLDDAR 300 VEETPCAGST DCILEFPARN FTLPCSAQGW CEGMNEKRNL YNAYRFFFTY LLPHSAPPSL 360 RPLLDSIVNA TGELAWGVDE TLAQLEKVLH LYRSGQYLQN STASSSTEYQ CIPDSTIPQE 420 DYRCWPSYHH GSCLLSVFNL AEAVDVCESH AQCRAFVVTN QTTWTGRQLV FFKTGWSQVV 480 PDPNKTTYVK ASG 493 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.