MKKS

GENE INFORMATION

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Gene name

MKKS (HGNC Symbol)

Synonyms

BBS6

Description

McKusick-Kaufman syndrome (HGNC Symbol)

Entrez gene summary

This gene encodes a protein which shares sequence similarity with other members of the type II chaperonin family. The encoded protein is a centrosome-shuttling protein and plays an important role in cytokinesis. This protein also interacts with other type II chaperonin members to form a complex known as the BBSome, which involves ciliary membrane biogenesis. This protein is encoded by a downstream open reading frame (dORF). Several upstream open reading frames (uORFs) have been identified, which repress the translation of the dORF, and two of which can encode small mitochondrial membrane proteins. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 6, also known as McKusick-Kaufman syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]

Chromosome

20

Cytoband

p12.2

Chromosome location (bp)

10401009 - 10434222

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000125863 (version 78.38)

Entrez gene

8195

UniProt

Q9NPJ1 (UniProt - Evidence at protein level)

neXtProt

NX_Q9NPJ1

Antibodypedia

MKKS antibodies
 

PROTEIN VIEW

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MKKS-001
 
MKKS-002
 
MKKS-003
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

MKKS-001 ENSP00000246062
ENST00000347364
Q9NPJ1
Show all »
Show » Show » 570 62.3 No 0
MKKS-002 ENSP00000382008
ENST00000399054
Q9NPJ1
Show all »
Show » Show » 570 62.3 No 0
MKKS-003 ENSP00000477297
ENST00000609375
Q9HB66
Show all »
Show » 63 7.3 No 1