Entity Details

Primary name PKDCC_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ504Y2
EntryNamePKDCC_HUMAN
FullNameExtracellular tyrosine-protein kinase PKDCC
TaxID9606
Evidenceevidence at protein level
Length493
SequenceStatuscomplete
DateCreated2006-11-28
DateModified2021-06-02

Ontological Relatives

GenesPKDCC

GO terms

Show/Hide Table
GOName
GO:0001501 skeletal system development
GO:0004672 protein kinase activity
GO:0004714 transmembrane receptor protein tyrosine kinase activity
GO:0004715 non-membrane spanning protein tyrosine kinase activity
GO:0005524 ATP binding
GO:0005576 extracellular region
GO:0005794 Golgi apparatus
GO:0015031 protein transport
GO:0018108 peptidyl-tyrosine phosphorylation
GO:0030154 cell differentiation
GO:0030282 bone mineralization
GO:0030501 positive regulation of bone mineralization
GO:0032332 positive regulation of chondrocyte differentiation
GO:0035108 limb morphogenesis
GO:0035264 multicellular organism growth
GO:0042997 negative regulation of Golgi to plasma membrane protein transport
GO:0048286 lung alveolus development
GO:0048566 embryonic digestive tract development
GO:0060021 roof of mouth development

Subcellular Location

Show/Hide Table
Subcellular Location
Golgi apparatus
Secreted

Domains

Show/Hide Table
DomainNameCategoryType
IPR000719 Protein kinase domainDomainDomain
IPR011009 Protein kinase-like domain superfamilyFamilyHomologous superfamily
IPR022049 FAM69, protein-kinase domainDomainDomain
IPR042983 Extracellular tyrosine-protein kinase PKDCCFamilyFamily

Diseases

Show/Hide Table
Disease IDSourceNameDescription
618821 OMIMRhizomelic limb shortening with dysmorphic features (RLSDF)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

0 interactions

InteractorPartnerSourcesPublicationsLink