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Mkks McKusick-Kaufman syndrome [ Rattus norvegicus (Norway rat) ]

Gene ID: 311456, updated on 18-Nov-2018

Summary

Official Symbol
Mkksprovided by RGD
Official Full Name
McKusick-Kaufman syndromeprovided by RGD
Primary source
RGD:1308814
See related
Ensembl:ENSRNOG00000006705
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Rattus norvegicus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
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. [provided by RefSeq, Nov 2013]
Expression
Biased expression in Heart (RPKM 91.2), Brain (RPKM 90.1) and 9 other tissues See more
Orthologs

Genomic context

See Mkks in Genome Data Viewer
Location:
3q36
Exon count:
7
Annotation release Status Assembly Chr Location
106 current Rnor_6.0 (GCF_000001895.5) 3 NC_005102.4 (129866542..129885213, complement)
104 previous assembly Rnor_5.0 (GCF_000001895.4) 3 NC_005102.3 (136347547..136365815, complement)

Chromosome 3 - NC_005102.4Genomic Context describing neighboring genes Neighboring gene synaptosome associated protein 25 Neighboring gene uncharacterized LOC108350473 Neighboring gene hypothetical LOC100361315 Neighboring gene SLX4 interacting protein Neighboring gene uncharacterized LOC108350474 Neighboring gene jagged canonical Notch ligand 1

Genomic regions, transcripts, and products

Expression

  • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
  • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
  • BioProject: PRJNA238328
  • Publication: PMID 24510058
  • Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

General gene information

Markers

Homology

Clone Names

  • MGC95109

Gene Ontology Provided by RGD

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
RNA polymerase II repressing transcription factor binding IEA
Inferred from Electronic Annotation
more info
 
RNA polymerase II repressing transcription factor binding ISO
Inferred from Sequence Orthology
more info
 
molecular_function ND
No biological Data available
more info
 
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
 
artery smooth muscle contraction ISO
Inferred from Sequence Orthology
more info
 
biological_process ND
No biological Data available
more info
 
brain morphogenesis IEA
Inferred from Electronic Annotation
more info
 
brain morphogenesis ISO
Inferred from Sequence Orthology
more info
 
cartilage development IEA
Inferred from Electronic Annotation
more info
 
cartilage development ISO
Inferred from Sequence Orthology
more info
 
cerebral cortex development IEA
Inferred from Electronic Annotation
more info
 
cerebral cortex development ISO
Inferred from Sequence Orthology
more info
 
chaperone-mediated protein complex assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chaperone-mediated protein complex assembly ISO
Inferred from Sequence Orthology
more info
 
cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cilium assembly ISO
Inferred from Sequence Orthology
more info
 
detection of mechanical stimulus involved in sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
detection of mechanical stimulus involved in sensory perception of sound ISO
Inferred from Sequence Orthology
more info
 
developmental process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
face development IEA
Inferred from Electronic Annotation
more info
 
face development ISO
Inferred from Sequence Orthology
more info
 
fat cell differentiation IEA
Inferred from Electronic Annotation
more info
 
fat cell differentiation ISO
Inferred from Sequence Orthology
more info
 
hippocampus development IEA
Inferred from Electronic Annotation
more info
 
hippocampus development ISO
Inferred from Sequence Orthology
more info
 
intracellular transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
leptin-mediated signaling pathway ISO
Inferred from Sequence Orthology
more info
 
negative regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
negative regulation of GTPase activity ISO
Inferred from Sequence Orthology
more info
 
negative regulation of actin filament polymerization IEA
Inferred from Electronic Annotation
more info
 
negative regulation of actin filament polymerization ISO
Inferred from Sequence Orthology
more info
 
negative regulation of appetite by leptin-mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
negative regulation of appetite by leptin-mediated signaling pathway ISO
Inferred from Sequence Orthology
more info
 
negative regulation of blood pressure IEA
Inferred from Electronic Annotation
more info
 
negative regulation of blood pressure ISO
Inferred from Sequence Orthology
more info
 
negative regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
negative regulation of gene expression ISO
Inferred from Sequence Orthology
more info
 
non-motile cilium assembly IEA
Inferred from Electronic Annotation
more info
 
non-motile cilium assembly ISO
Inferred from Sequence Orthology
more info
 
photoreceptor cell maintenance IEA
Inferred from Electronic Annotation
more info
 
photoreceptor cell maintenance ISO
Inferred from Sequence Orthology
more info
 
positive regulation of multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
positive regulation of multicellular organism growth ISO
Inferred from Sequence Orthology
more info
 
protein folding IEA
Inferred from Electronic Annotation
more info
 
regulation of cilium beat frequency involved in ciliary motility IEA
Inferred from Electronic Annotation
more info
 
regulation of cilium beat frequency involved in ciliary motility ISO
Inferred from Sequence Orthology
more info
 
regulation of stress fiber assembly IEA
Inferred from Electronic Annotation
more info
 
regulation of stress fiber assembly ISO
Inferred from Sequence Orthology
more info
 
response to leptin ISO
Inferred from Sequence Orthology
more info
 
sensory perception of smell IEA
Inferred from Electronic Annotation
more info
 
sensory perception of smell ISO
Inferred from Sequence Orthology
more info
 
social behavior IEA
Inferred from Electronic Annotation
more info
 
social behavior ISO
Inferred from Sequence Orthology
more info
 
spermatid development IEA
Inferred from Electronic Annotation
more info
 
spermatid development ISO
Inferred from Sequence Orthology
more info
 
striatum development IEA
Inferred from Electronic Annotation
more info
 
striatum development ISO
Inferred from Sequence Orthology
more info
 
vasodilation IEA
Inferred from Electronic Annotation
more info
 
vasodilation ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
centrosome IEA
Inferred from Electronic Annotation
more info
 
centrosome ISO
Inferred from Sequence Orthology
more info
 
ciliary basal body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ciliary basal body ISO
Inferred from Sequence Orthology
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm ISO
Inferred from Sequence Orthology
more info
 
kinociliary basal body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
kinociliary basal body ISO
Inferred from Sequence Orthology
more info
 
motile cilium IEA
Inferred from Electronic Annotation
more info
 
motile cilium ISO
Inferred from Sequence Orthology
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus ISO
Inferred from Sequence Orthology
more info
 

General protein information

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

mRNA and Protein(s)

  1. NM_001008353.2NP_001008354.1  McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin

    See identical proteins and their annotated locations for NP_001008354.1

    Status: REVIEWED

    Source sequence(s)
    BC083863, CB586701
    UniProtKB/TrEMBL
    Q5XI30
    Related
    ENSRNOP00000009540.3, ENSRNOT00000009540.5
    Conserved Domains (2) summary
    pfam00118
    Location:29569
    Cpn60_TCP1; TCP-1/cpn60 chaperonin family
    cl02777
    Location:32456
    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 ...

RefSeqs of Annotated Genomes: Rattus norvegicus Annotation Release 106 details...Open this link in a new tab

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

Reference Rnor_6.0 Primary Assembly

Genomic

  1. NC_005102.4 Reference Rnor_6.0 Primary Assembly

    Range
    129866542..129885213 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_008762254.2XP_008760476.1  McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin isoform X1

    See identical proteins and their annotated locations for XP_008760476.1

    UniProtKB/TrEMBL
    Q5XI30
    Conserved Domains (2) summary
    pfam00118
    Location:29569
    Cpn60_TCP1; TCP-1/cpn60 chaperonin family
    cl02777
    Location:32456
    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 ...

Alternate Rn_Celera

Genomic

  1. AC_000071.1 Alternate Rn_Celera

    Range
    122920784..122939041 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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