Search

Search for a specific protein in the Platelet Interactome


(Example: vasp)

 

Advanced Search

Get detailed protein information focusing on various characteristics and extract interaction networks

 

Legend

 

About

Go Back

Description for Protein MKKS

McKusick-Kaufman syndrome
4 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a protein with sequence similarity to the chaperonin family. The encoded protein may have a role in protein processing in limb, cardiac and reproductive system development. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 6 and McKusick-Kaufman syndrome. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
None Available
KEGG - Orthology:
K09492
KEGG - Pathway(s):
None Available
Nomenclature / Alternative Names:
MKS; McKusick Kaufman/Bardet Biedl syndromes putative chaperonin; KMS; HMCS; McKusick-Kaufman syndrome protein; Bardet-Biedl syndrome 6 protein
Approved Symbol:
MKKS
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 0
No human (de-) phosphorylation sites; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

None Available

Associated Genetic Diseases:

  • Bardet-Biedl syndrome 1, modifier of(Pd);
  • Bardet-Biedl syndrome 6(Pd);
  • Mckusick-Kaufman syndrome(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 05356 Entrez Gene ID: 8195 OMIM ID: 604896 Swissprot Accession: Q9NPJ1;