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MKKS

CANCER ATLAS

Gene description

 McKusick-Kaufman syndrome

Protein class

 Disease related genes, Predicted intracellular proteins, Predicted membrane proteins

Protein evidence

 Evidence at protein level
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARY
HPA041071
HPA044233

GENE INFORMATION

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 83.38)

Entrez gene

 8195

UniProt

 Q9NPJ1 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9NPJ1

Antibodypedia

 MKKS antibodies

PROTEIN BROWSER
MKKS-001
MKKS-002
MKKS-003

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
MKKS-001
ENSP00000246062
ENST00000347364
Q9NPJ1 [Direct mapping]
McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin
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Predicted intracellular proteins
Disease related genes
Show all
GO:0001103 [RNA polymerase II repressing transcription factor binding]
GO:0001947 [heart looping]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005622 [intracellular]
GO:0005813 [centrosome]
GO:0005829 [cytosol]
GO:0006457 [protein folding]
GO:0007286 [spermatid development]
GO:0007368 [determination of left/right symmetry]
GO:0007507 [heart development]
GO:0007601 [visual perception]
GO:0007608 [sensory perception of smell]
GO:0008406 [gonad development]
GO:0010629 [negative regulation of gene expression]
GO:0014824 [artery smooth muscle contraction]
GO:0021756 [striatum development]
GO:0021766 [hippocampus development]
GO:0021987 [cerebral cortex development]
GO:0030837 [negative regulation of actin filament polymerization]
GO:0031514 [motile cilium]
GO:0032402 [melanosome transport]
GO:0033210 [leptin-mediated signaling pathway]
GO:0034260 [negative regulation of GTPase activity]
GO:0035058 [nonmotile primary cilium assembly]
GO:0035176 [social behavior]
GO:0036064 [ciliary basal body]
GO:0038108 [negative regulation of appetite by leptin-mediated signaling pathway]
GO:0040018 [positive regulation of multicellular organism growth]
GO:0042311 [vasodilation]
GO:0042384 [cilium assembly]
GO:0044321 [response to leptin]
GO:0045444 [fat cell differentiation]
GO:0045494 [photoreceptor cell maintenance]
GO:0045776 [negative regulation of blood pressure]
GO:0046907 [intracellular transport]
GO:0048854 [brain morphogenesis]
GO:0050910 [detection of mechanical stimulus involved in sensory perception of sound]
GO:0051082 [unfolded protein binding]
GO:0051131 [chaperone-mediated protein complex assembly]
GO:0051216 [cartilage development]
GO:0051492 [regulation of stress fiber assembly]
GO:0051877 [pigment granule aggregation in cell center]
GO:0060027 [convergent extension involved in gastrulation]
GO:0060271 [cilium morphogenesis]
GO:0060296 [regulation of cilium beat frequency involved in ciliary motility]
GO:0060324 [face development]
GO:1902636 [kinociliary basal body]
Show all
 570 aa
62.3 kDa 		No 0
MKKS-002
ENSP00000382008
ENST00000399054
Q9NPJ1 [Direct mapping]
McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin
Show all
Predicted intracellular proteins
Disease related genes
Show all
GO:0001103 [RNA polymerase II repressing transcription factor binding]
GO:0001947 [heart looping]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005622 [intracellular]
GO:0005813 [centrosome]
GO:0005829 [cytosol]
GO:0006457 [protein folding]
GO:0007286 [spermatid development]
GO:0007368 [determination of left/right symmetry]
GO:0007507 [heart development]
GO:0007601 [visual perception]
GO:0007608 [sensory perception of smell]
GO:0008406 [gonad development]
GO:0021756 [striatum development]
GO:0021766 [hippocampus development]
GO:0021987 [cerebral cortex development]
GO:0031514 [motile cilium]
GO:0032402 [melanosome transport]
GO:0035176 [social behavior]
GO:0038108 [negative regulation of appetite by leptin-mediated signaling pathway]
GO:0042384 [cilium assembly]
GO:0045444 [fat cell differentiation]
GO:0045494 [photoreceptor cell maintenance]
GO:0046907 [intracellular transport]
GO:0048854 [brain morphogenesis]
GO:0050910 [detection of mechanical stimulus involved in sensory perception of sound]
GO:0051082 [unfolded protein binding]
GO:0051877 [pigment granule aggregation in cell center]
GO:0060027 [convergent extension involved in gastrulation]
GO:0060271 [cilium morphogenesis]
GO:0060296 [regulation of cilium beat frequency involved in ciliary motility]
Show all
 570 aa
62.3 kDa 		No 0
MKKS-003
ENSP00000477297
ENST00000609375
Q9HB66 [Direct mapping]
Alternative protein MKKS; McKusick-Kaufman syndrome, isoform CRA_a; McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin; PNAS-117
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Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Show all
GO:0016021 [integral component of membrane]
Show all
 63 aa
7.3 kDa 		No 1

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.