MKKS

GENERAL INFORMATION

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Gene name

MKKS

Gene description

McKusick-Kaufman syndrome

Protein class

Disease related genes
Predicted intracellular proteins
Predicted membrane proteins

Predicted localization

Intracellular,Membrane

Number of transcripts

3
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Ubiquitous cytoplasmic expression.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA041071 , HPA044233
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



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 BROWSER

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ENST00000347364
 
ENST00000399054
 
ENST00000609375
 
 
 
 


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
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Show » 63 7.3 No 1