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

Gene ID: 8195, updated on 13-Jan-2015
Official Symbol
MKKSprovided by HGNC
Official Full Name
McKusick-Kaufman syndromeprovided by HGNC
Primary source
HGNC:HGNC:7108
See related
Ensembl:ENSG00000125863; HPRD:05356; MIM:604896; Vega:OTTHUMG00000031868
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]
Orthologs
See MKKS in MapViewer
Location:
20p12
Exon count:
7
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 20 NC_000020.11 (10404780..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 DnaJ (Hsp40) homolog, subfamily C, member 9 pseudogene Neighboring gene microRNA 6870 Neighboring gene jagged 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Assembly of the primary cilium, organism-specific biosystem (from REACTOME)
    Assembly of the primary cilium, organism-specific biosystemThe primary cilium is one of two main types of cilia present on the surface of many eukaryotic cells (reviewed in Flieghauf et al, 2007). Unlike the motile cilia, which are generally present in large...
  • 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 biosystemThe primary cilium is a sensory organelle that is required for the transduction of numerous external signals such as growth factors, hormones and morphogens, and an intact primary cilium is needed fo...
  • 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...
Products Interactant Other Gene Complex Source Pubs Description

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 IEA
Inferred from Electronic Annotation
more info
 
cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
cilium morphogenesis 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
 
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 ISS
Inferred from Sequence or Structural Similarity
more info
 
melanosome transport ISS
Inferred from Sequence or Structural Similarity
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
 
nonmotile primary 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
 
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
 
cytosol IEA
Inferred from Electronic Annotation
more info
 
intracellular IDA
Inferred from Direct Assay
more info
 
motile cilium ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin
Names
McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin
Bardet-Biedl syndrome 6 protein

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_009109.1 

    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 proteins identical to 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/TrEMBL
    B7Z3W9
    UniProtKB/Swiss-Prot
    Q9NPJ1
    Related
    ENSP00000382008, OTTHUMP00000162353, ENST00000399054, OTTHUMT00000077992
    Conserved Domains (1) summary
    pfam00118
    Location:29570
    Cpn60_TCP1; TCP-1/cpn60 chaperonin family
  2. NM_170784.2NP_740754.1  McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin

    See proteins identical to 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/TrEMBL
    B7Z3W9
    UniProtKB/Swiss-Prot
    Q9NPJ1
    Conserved Domains (1) summary
    pfam00118
    Location:29570
    Cpn60_TCP1; TCP-1/cpn60 chaperonin family

RNA

  1. NR_072977.1 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, DA209180

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000020.11 

    Range
    10404780..10434239
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018931.2 

    Range
    10385992..10415443
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000152.1 

    Range
    10337201..10366656
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)