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MKKS McKusick-Kaufman syndrome [ Homo sapiens (human) ]

Gene ID: 8195, updated on 17-Jun-2019

Summary

Official Symbol
MKKSprovided by HGNC
Official Full Name
McKusick-Kaufman syndromeprovided 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

Genomic context

See MKKS in Genome Data Viewer
Location:
20p12.2
Exon count:
7
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (10401009..10434239, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (10385428..10414887, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L23a pseudogene 6 Neighboring gene SDA1 domain containing 1 pseudogene 2 Neighboring gene SLX4 interacting protein Neighboring gene Sharpr-MPRA regulatory region 2397 Neighboring gene Sharpr-MPRA regulatory region 11569

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • BBSome-mediated cargo-targeting to cilium, organism-specific biosystem (from REACTOME)
    BBSome-mediated cargo-targeting to cilium, organism-specific biosystemThe BBSome is a stable complex consisting of 7 Bardet-Biedl proteins (BBS1, 2, 4, 5, 7, 8 and 9) and BBIP10 that has roles in promoting IFT and trafficking proteins to the cilum (Blacque et al, 2004;...
  • Cargo trafficking to the periciliary membrane, organism-specific biosystem (from REACTOME)
    Cargo trafficking to the periciliary membrane, organism-specific biosystemProteomic studies suggest that the cilium is home to approximately a thousand proteins, and has a unique protein and lipid make up relative to the bulk cytoplasm and plasma membrane (Pazour et al, 20...
  • Cilium Assembly, organism-specific biosystem (from REACTOME)
    Cilium Assembly, organism-specific biosystemCilia are membrane covered organelles that extend from the surface of eukaryotic cells. Cilia may be motile, such as respiratory cilia) or non-motile (such as the primary cilium) and are distinguishe...
  • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
    Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin
Names
Bardet-Biedl syndrome 6 protein

NCBI Reference Sequences (RefSeq)

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

  1. NG_009109.2 RefSeqGene

    Range
    4980..34439
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    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:29569
    Cpn60_TCP1; TCP-1/cpn60 chaperonin family
    cl02777
    Location:32476
    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 ...
  2. NM_170784.2NP_740754.1  McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin

    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:29569
    Cpn60_TCP1; TCP-1/cpn60 chaperonin family
    cl02777
    Location:32476
    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

  1. 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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    10401009..10434239 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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