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Aliases for MKKS Gene

Aliases for MKKS Gene

  • McKusick-Kaufman Syndrome 2 3 5
  • Bardet-Biedl Syndrome 6 Protein 3 4
  • BBS6 3 4
  • HMCS 3
  • KMS 3
  • MKS 3

External Ids for MKKS Gene

Previous HGNC Symbols for MKKS Gene

  • BBS6

Previous GeneCards Identifiers for MKKS Gene

  • GC20M010373
  • GC20M010333
  • GC20M010380
  • GC20M010337

Summaries for MKKS Gene

Entrez Gene Summary for MKKS Gene

  • 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]

GeneCards Summary for MKKS Gene

MKKS (McKusick-Kaufman Syndrome) is a Protein Coding gene. Diseases associated with MKKS include mckusick-kaufman syndrome and bardet-biedl syndrome 6. Among its related pathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. GO annotations related to this gene include unfolded protein binding and RNA polymerase II repressing transcription factor binding.

UniProtKB/Swiss-Prot for MKKS Gene

  • Probable molecular chaperone. Assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. May play a role in protein processing in limb, cardiac and reproductive system development. May play a role in cytokinesis.

Gene Wiki entry for MKKS Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MKKS Gene

Genomics for MKKS Gene

Regulatory Elements for MKKS Gene

Enhancers for MKKS Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MKKS on UCSC Golden Path with GeneCards custom track

Promoters for MKKS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MKKS on UCSC Golden Path with GeneCards custom track

Genomic Location for MKKS Gene

Chromosome:
20
Start:
10,401,009 bp from pter
End:
10,434,239 bp from pter
Size:
33,231 bases
Orientation:
Minus strand

Genomic View for MKKS Gene

Genes around MKKS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MKKS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MKKS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MKKS Gene

Proteins for MKKS Gene

  • Protein details for MKKS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NPJ1-MKKS_HUMAN
    Recommended name:
    McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin
    Protein Accession:
    Q9NPJ1
    Secondary Accessions:
    • A8K7B0
    • D3DW18

    Protein attributes for MKKS Gene

    Size:
    570 amino acids
    Molecular mass:
    62342 Da
    Quaternary structure:
    • Component of the BBS/CCT complex composed at least of MKKS, BBS10, BBS12, TCP1, CCT2, CCT3, CCT4, CCT5 AND CCT8. Interacts with STUB1. Interacts with BBS2 (via coiled coil domain). Interacts with CCDC28B.

neXtProt entry for MKKS Gene

Proteomics data for MKKS Gene at MOPED

Post-translational modifications for MKKS Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MKKS Gene

No data available for DME Specific Peptides for MKKS Gene

Domains & Families for MKKS Gene

Gene Families for MKKS Gene

Protein Domains for MKKS Gene

Suggested Antigen Peptide Sequences for MKKS Gene

Graphical View of Domain Structure for InterPro Entry

Q9NPJ1

UniProtKB/Swiss-Prot:

MKKS_HUMAN :
  • The substrate-binding apical domain region is sufficient for centrosomal association.
  • Belongs to the TCP-1 chaperonin family.
Domain:
  • The substrate-binding apical domain region is sufficient for centrosomal association.
Family:
  • Belongs to the TCP-1 chaperonin family.
genes like me logo Genes that share domains with MKKS: view

Function for MKKS Gene

Molecular function for MKKS Gene

UniProtKB/Swiss-Prot Function:
Probable molecular chaperone. Assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. May play a role in protein processing in limb, cardiac and reproductive system development. May play a role in cytokinesis.

Gene Ontology (GO) - Molecular Function for MKKS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with MKKS: view
genes like me logo Genes that share phenotypes with MKKS: view

Human Phenotype Ontology for MKKS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MKKS Gene

MGI Knock Outs for MKKS:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MKKS Gene

Localization for MKKS Gene

Subcellular locations from UniProtKB/Swiss-Prot for MKKS Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytosol. Note=The majority of the protein resides within the pericentriolar material (PCM), a proteinaceous tube surrounding centrioles. During interphase, the protein is confined to the lateral surfaces of the PCM but during mitosis it relocalizes throughout the PCM and is found at the intercellular bridge. The MKSS protein is highly mobile and rapidly shuttles between the cytosol and centrosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MKKS Gene COMPARTMENTS Subcellular localization image for MKKS gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 2
extracellular 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for MKKS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IEA --
GO:0036064 ciliary basal body IEA --
genes like me logo Genes that share ontologies with MKKS: view

Pathways & Interactions for MKKS Gene

genes like me logo Genes that share pathways with MKKS: view

Gene Ontology (GO) - Biological Process for MKKS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001947 heart looping ISS --
GO:0006457 protein folding IEA --
GO:0007286 spermatid development ISS --
GO:0007368 determination of left/right symmetry ISS --
GO:0007601 visual perception IEA --
genes like me logo Genes that share ontologies with MKKS: view

No data available for SIGNOR curated interactions for MKKS Gene

Drugs & Compounds for MKKS Gene

(4) Drugs for MKKS Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with MKKS: view

Transcripts for MKKS Gene

Unigene Clusters for MKKS Gene

McKusick-Kaufman syndrome:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MKKS Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b · 8c
SP1: - - -
SP2: - -
SP3: -
SP4:
SP5:
SP6: - - - - -

Relevant External Links for MKKS Gene

GeneLoc Exon Structure for
MKKS
ECgene alternative splicing isoforms for
MKKS

Expression for MKKS Gene

mRNA expression in normal human tissues for MKKS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MKKS Gene



SOURCE GeneReport for Unigene cluster for MKKS Gene Hs.472119

mRNA Expression by UniProt/SwissProt for MKKS Gene

Q9NPJ1-MKKS_HUMAN
Tissue specificity: Widely expressed in adult and fetal tissues.
genes like me logo Genes that share expression patterns with MKKS: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Protein tissue co-expression partners for MKKS Gene

Orthologs for MKKS Gene

This gene was present in the common ancestor of chordates.

Orthologs for MKKS Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MKKS 35
  • 81.05 (n)
  • 79.65 (a)
MKKS 36
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MKKS 35
  • 86.84 (n)
  • 83.68 (a)
MKKS 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mkks 35
  • 82.69 (n)
  • 77.19 (a)
Mkks 16
Mkks 36
  • 77 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MKKS 35
  • 99.47 (n)
  • 98.95 (a)
MKKS 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mkks 35
  • 83.1 (n)
  • 78.07 (a)
oppossum
(Monodelphis domestica)
Mammalia MKKS 36
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MKKS 36
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves MKKS 35
  • 68.55 (n)
  • 62.08 (a)
MKKS 36
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MKKS 36
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mkks 35
  • 59.18 (n)
  • 51.4 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
mkks 35
  • 53.42 (n)
  • 42.25 (a)
mkks 36
  • 42 (a)
OneToOne
Species with no ortholog for MKKS:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MKKS Gene

ENSEMBL:
Gene Tree for MKKS (if available)
TreeFam:
Gene Tree for MKKS (if available)

Paralogs for MKKS Gene

No data available for Paralogs for MKKS Gene

Variants for MKKS Gene

Sequence variations from dbSNP and Humsavar for MKKS Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs74315396 Bardet-Biedl syndrome 6 (BBS6), McKusick-Kaufman syndrome (MKKS) 10,413,405(-) ATGCT(A/G)TGGCC intron-variant, reference, missense
VAR_009865 -
VAR_009866 McKusick-Kaufman syndrome (MKKS)
rs74315394 Bardet-Biedl syndrome 6 (BBS6), McKusick-Kaufman syndrome (MKKS) 10,412,791(-) AGGTG(G/T)CACTC intron-variant, reference, missense
rs1547 - 10,405,411(+) ACGAC(A/G)TGTGC nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for MKKS Gene

Variant ID Type Subtype PubMed ID
nsv522874 CNV Loss 19592680

Variation tolerance for MKKS Gene

Residual Variation Intolerance Score: 37.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.50; 82.24% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MKKS Gene

HapMap Linkage Disequilibrium report
MKKS
Human Gene Mutation Database (HGMD)
MKKS

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MKKS Gene

Disorders for MKKS Gene

MalaCards: The human disease database

(16) MalaCards diseases for MKKS Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mckusick-kaufman syndrome
  • mckusick kaufman syndrome
bardet-biedl syndrome 6
  • bbs6
mkks-related bardet-biedl syndrome
  • bardet-biedl syndrome 6
bardet-biedl syndrome
  • laurence-moon syndrome
bardet-biedl syndrome 1
  • bardet-biedl syndrome 1, modifier of
- elite association - COSMIC cancer census association via MalaCards
Search MKKS in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MKKS_HUMAN
  • Bardet-Biedl syndrome 6 (BBS6) [MIM:605231]: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269 PubMed:10973238, ECO:0000269 PubMed:10973251, ECO:0000269 PubMed:11179009, ECO:0000269 PubMed:11567139, ECO:0000269 PubMed:12107442, ECO:0000269 PubMed:12677556, ECO:0000269 PubMed:12920096, ECO:0000269 PubMed:15666242, ECO:0000269 PubMed:15770229, ECO:0000269 PubMed:21344540, ECO:0000269 PubMed:22152675}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • McKusick-Kaufman syndrome (MKKS) [MIM:236700]: Autosomal recessive developmental disorder. It is characterized by hydrometrocolpos, postaxial polydactyly and congenital heart defects. {ECO:0000269 PubMed:10802661}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MKKS

Genetic Association Database (GAD)
MKKS
Human Genome Epidemiology (HuGE) Navigator
MKKS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MKKS
genes like me logo Genes that share disorders with MKKS: view

No data available for Genatlas for MKKS Gene

Publications for MKKS Gene

  1. Variation of the McKusick-Kaufman gene and studies of relationships with common forms of obesity. (PMID: 15483080) Andersen K.L. … Pedersen O. (J. Clin. Endocrinol. Metab. 2005) 3 4 48 67
  2. BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. (PMID: 20080638) Seo S. … Sheffield V.C. (Proc. Natl. Acad. Sci. U.S.A. 2010) 3 23
  3. Chaperonin genes on the rise: new divergent classes and intense duplication in human and other vertebrate genomes. (PMID: 20193073) Mukherjee K. … Brocchieri L. (BMC Evol. Biol. 2010) 3 23
  4. Association between BBS6/MKKS gene polymorphisms, obesity and metabolic syndrome in the Greek population. (PMID: 18813213) Rouskas K. … Kouvatsi A. (Int J Obes (Lond) 2008) 3 23
  5. MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis. (PMID: 15731008) Kim J.C. … Leroux M.R. (J. Cell Sci. 2005) 3 23

Products for MKKS Gene

Sources for MKKS Gene

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