MKKS MKKS centrosomal shuttling protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: MKKSprovided by HGNC
Official Full Name: MKKS centrosomal shuttling proteinprovided by HGNC
Primary source: HGNC:HGNC:7108
See related: Ensembl:ENSG00000125863 MIM:604896
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: KMS; MKS; BBS6; HMCS
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]
Expression: Ubiquitous expression in kidney (RPKM 13.4), testis (RPKM 12.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20p12.2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
109.20210514	current	GRCh38.p13 (GCF_000001405.39)	20	NC_000020.11 (10401009..10434222, complement)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (10381657..10414870, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Apparent but unconfirmed digenism in an Iranian consanguineous family with syndromic Retinal Disease.
Title: Apparent but unconfirmed digenism in an Iranian consanguineous family with syndromic Retinal Disease.
Novel mutation in MKKS/BBS6 linked with arRP and polydactyly in a family of North Indian origin.
Title: Novel mutation in MKKS/BBS6 linked with arRP and polydactyly in a family of North Indian origin.
Novel sequence variants in the MKKS gene cause Bardet-Biedl syndrome in two consanguineous families with intra- and inter-familial variable phenotypes.
Title: Novel sequence variants in the MKKS gene cause Bardet-Biedl syndrome with intra- and inter-familial variable phenotypes.
Two novel mutations and three previously reported variants, identified in the present study, further extend the body of evidence implicating BBS6, BBS7, BBS8, and BBS10 in causing Bardet-Biedl Syndrome.
Title: Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.
found compound heterozygous variants (c.1192C>T, p.Q398* and c.1175C>T, p.T392M) in MKKS in both the siblings, and these were likely to be pathogenic variants
Title: Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with Bardet-Biedl syndrome.
We identified a novel H395R substitution in MKKS/BBS6 that results in a unique phenotype of only retinitis pigmentosa and polydactyly.
Title: A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome.
we report here, for the first time, in Indian population, a novel, different profile of mutations in BBS genes (BBS3, BBS9, BBS10 and BBS2) compared to worldwide (BBS1 and 10) reports.
Title: Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort.
Novel mutation (c.1272+1G>A) in BBS6 found in Tunisian families with Bardet-Biedl syndrome.
Title: Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis.
Findings indicate that Bbs proteins play a central role in the regulation of the actin cytoskeleton and control the cilia length through alteration of RhoA levels.
Title: Bardet-Biedl syndrome proteins control the cilia length through regulation of actin polymerization.
Three uORFs (uMKKS0, uMKKS1 and uMKKS2) are reported, and they can repress the translation of the downstream MKKS ORF. uMKKS1 and uMKKS2 are highly conserved in mammals and they encode two different mitochondrial membrane proteins respectively.
Title: Translational repression of the McKusick-Kaufman syndrome transcript by unique upstream open reading frames encoding mitochondrial proteins with alternative polyadenylation sites.

Submit: New GeneRIF Correction See all GeneRIFs (21)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Bardet-Biedl syndrome MedGen: C0752166 GeneReviews: Bardet-Biedl Syndrome Overview	Compare labs
Bardet-Biedl syndrome 6 MedGen: C1858054 OMIM: 605231 GeneReviews: Bardet-Biedl Syndrome Overview	Compare labs
McKusick-Kaufman syndrome MedGen: C0948368 OMIM: 236700 GeneReviews: McKusick-Kaufman Syndrome	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-R67339 (e-PCR)
- UniSTS:34376

MKKS__7396 (e-PCR)
- UniSTS:466338

RH46023 (e-PCR)
- UniSTS:52916

G60203 (e-PCR)
- UniSTS:137462

Homology

Homologs of the MKKS gene: The MKKS gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 414 organisms have orthologs with human gene MKKS
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables unfolded protein binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in artery smooth muscle contraction	IEA Inferred from Electronic Annotation more info
involved_in brain morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in cartilage development	IEA Inferred from Electronic Annotation more info
involved_in cerebral cortex development	ISS Inferred from Sequence or Structural Similarity more info
involved_in chaperone-mediated protein complex assembly	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in convergent extension involved in gastrulation	ISS Inferred from Sequence or Structural Similarity more info
involved_in detection of mechanical stimulus involved in sensory perception of sound	ISS Inferred from Sequence or Structural Similarity more info
involved_in determination of left/right symmetry	ISS Inferred from Sequence or Structural Similarity more info
involved_in developmental process	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in face development	IEA Inferred from Electronic Annotation more info
involved_in fat cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in gonad development	TAS Traceable Author Statement more info	PubMed
involved_in heart development	TAS Traceable Author Statement more info	PubMed
involved_in heart looping	ISS Inferred from Sequence or Structural Similarity more info
involved_in hippocampus development	ISS Inferred from Sequence or Structural Similarity more info
involved_in intracellular transport	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in intracellular transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in melanosome transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of GTPase activity	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of actin filament polymerization	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of appetite by leptin-mediated signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of blood pressure	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in non-motile cilium assembly	IEA Inferred from Electronic Annotation more info
involved_in photoreceptor cell maintenance	ISS Inferred from Sequence or Structural Similarity more info
involved_in pigment granule aggregation in cell center	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of multicellular organism growth	IEA Inferred from Electronic Annotation more info
involved_in protein folding	IEA Inferred from Electronic Annotation more info
involved_in regulation of cilium beat frequency involved in ciliary motility	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of stress fiber assembly	IEA Inferred from Electronic Annotation more info
involved_in sensory perception of smell	ISS Inferred from Sequence or Structural Similarity more info
involved_in social behavior	ISS Inferred from Sequence or Structural Similarity more info
involved_in spermatid development	ISS Inferred from Sequence or Structural Similarity more info
involved_in striatum development	ISS Inferred from Sequence or Structural Similarity more info
involved_in vasodilation	IEA Inferred from Electronic Annotation more info
involved_in visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in centrosome	IDA Inferred from Direct Assay more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IEA Inferred from Electronic Annotation more info
is_active_in kinociliary basal body	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in motile cilium	ISS Inferred from Sequence or Structural Similarity more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin

Names: Bardet-Biedl syndrome 6 protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_009109.2 RefSeqGene

Range

4980..34439

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001394148.1 → NP_001381077.1 McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin isoform 2

Status: REVIEWED

Source sequence(s)

AL034430
NM_001394149.1 → NP_001381078.1 McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin isoform 3

Status: REVIEWED

Source sequence(s)

AL034430
NM_018848.3 → NP_061336.1 McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin isoform 1

See identical proteins and their annotated locations for NP_061336.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the same protein.

Source sequence(s)

AF221993, AK296439, AL034430

Consensus CDS

CCDS13111.1

UniProtKB/Swiss-Prot

Q9NPJ1

UniProtKB/TrEMBL

B7Z3W9

Related

ENSP00000382008.2, ENST00000399054.6

Conserved Domains (2) summary

pfam00118
Location:29 → 569

Cpn60_TCP1; TCP-1/cpn60 chaperonin family

cl02777
Location:32 → 476

chaperonin_like; chaperonin_like superfamily. Chaperonins are involved in productive folding of proteins. They share a common general morphology, a double toroid of 2 stacked rings, each composed of 7-9 subunits. There are 2 main chaperonin groups. The symmetry of type I ...
NM_170784.3 → NP_740754.1 McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin isoform 1

See identical proteins and their annotated locations for NP_740754.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.

Source sequence(s)

AF221992, AK296439, AL034430, DA209180

Consensus CDS

CCDS13111.1

UniProtKB/Swiss-Prot

Q9NPJ1

UniProtKB/TrEMBL

B7Z3W9

Related

ENSP00000246062.4, ENST00000347364.7

Conserved Domains (2) summary

pfam00118
Location:29 → 569

Cpn60_TCP1; TCP-1/cpn60 chaperonin family

cl02777
Location:32 → 476

chaperonin_like; chaperonin_like superfamily. Chaperonins are involved in productive folding of proteins. They share a common general morphology, a double toroid of 2 stacked rings, each composed of 7-9 subunits. There are 2 main chaperonin groups. The symmetry of type I ...

RNA

NR_072977.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.

Source sequence(s)

AK296439, AL034430