Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MKKS Gene

Aliases for MKKS Gene

  • McKusick-Kaufman Syndrome 2 3 5
  • Bardet-Biedl Syndrome 6 Protein 3 4
  • BBS6 3 4
  • McKusick-Kaufman/Bardet-Biedl Syndromes Putative Chaperonin 3
  • 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. Gene Ontology (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 plays 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

Additional gene information for MKKS Gene

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

Genomics for MKKS Gene

GeneHancer (GH) Regulatory Elements for MKKS Gene

Promoters and enhancers for MKKS Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J010432 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 667.6 -0.3 -334 3.5 HDGF PKNOX1 FOXA2 SMAD1 MLX ZFP64 ARID4B NEUROD1 SIN3A YBX1 MKKS SLX4IP LOC100421490 GC20P010506
GH20J010418 Promoter/Enhancer 1.4 EPDnew ENCODE dbSUPER 658.4 +14.5 14479 2.5 JUN CEBPG ZNF644 FOSL1 GATA3 POLR2A PRDM10 FOSL2 FOS MAFK MKKS SNAP25 ENSG00000285508 GC20M010401
GH20J010413 Promoter 0.5 EPDnew 650.3 +20.4 20396 0.1 MKKS GC20M010401 ENSG00000285508
GH20J010465 Enhancer 0.9 Ensembl ENCODE 19.6 -33.6 -33626 4.7 CTCF FOXA2 MAX FEZF1 ZIC2 RAD21 ZNF316 NFE2 RFX1 ZNF654 MKKS SLX4IP JAG1 GC20P010506
GH20J010539 Enhancer 1.3 Ensembl ENCODE dbSUPER 11.1 -106.7 -106688 3.1 FOXA2 MLX ARID4B YBX1 DMAP1 ETS1 SLC30A9 FOS NFKBIZ RXRA SLX4IP MKKS GC20P010506 LOC100421490
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MKKS on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MKKS gene promoter:
  • USF-1
  • SRF (504 AA)
  • USF1
  • SRF
  • FOXD3

Genomic Locations for MKKS Gene

Genomic Locations for MKKS Gene
chr20:10,401,009-10,434,239
(GRCh38/hg38)
Size:
33,231 bases
Orientation:
Minus strand
chr20:10,381,657-10,414,870
(GRCh37/hg19)
Size:
33,214 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. Interacts with BBS12 (PubMed:26900326). Interacts with SMARCC1, a component of the SWI/SNF complexes; the interaction takes place predominantly in the cytoplasm and may modulate SMARCC1 location (PubMed:28753627).

neXtProt entry for MKKS Gene

Post-translational modifications for MKKS Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MKKS Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MKKS Gene

Domains & Families for MKKS Gene

Gene Families for MKKS Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

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 plays 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.

Phenotypes From GWAS Catalog for MKKS Gene

Gene Ontology (GO) - Molecular Function for MKKS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001103 RNA polymerase II repressing transcription factor binding IPI 22302990
GO:0005515 protein binding IPI 16327777
GO:0005524 ATP binding IEA --
GO:0044183 protein binding involved in protein folding IBA --
GO:0051082 unfolded protein binding IBA --
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

Clone 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. Nucleus. 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MKKS gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 4
extracellular 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MKKS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA --
GO:0005634 nucleus IEA,IDA 28753627
GO:0005737 cytoplasm IDA,IEA 28753627
GO:0005813 centrosome IDA --
GO:0005815 microtubule organizing center 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 TAS 10802661
GO:0006458 de novo protein folding IBA --
GO:0007286 spermatid development ISS --
GO:0007368 determination of left/right symmetry ISS --
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

mRNA/cDNA for MKKS Gene

(2) REFSEQ mRNAs :
(11) Additional mRNA sequences :
(207) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MKKS Gene

McKusick-Kaufman syndrome:
Representative Sequences:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for MKKS Gene



NURSA nuclear receptor signaling pathways regulating expression of MKKS Gene:

MKKS

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.

Evidence on tissue expression from TISSUES for MKKS Gene

  • Nervous system(4.9)
  • Blood(4)
  • Kidney(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MKKS Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • middle ear
  • mouth
  • olfactory bulb
  • pituitary gland
  • skull
  • tooth
Thorax:
  • breast
  • bronchus
  • heart
  • heart valve
  • lung
Abdomen:
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
Pelvis:
  • anus
  • ovary
  • pelvis
  • penis
  • prostate
  • rectum
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vulva
Limb:
  • digit
  • femur
  • finger
  • foot
  • hand
  • hip
  • lower limb
  • thigh
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with MKKS: view

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
chimpanzee
(Pan troglodytes)
Mammalia MKKS 34 33
  • 99.47 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MKKS 34 33
  • 86.84 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mkks 33
  • 83.1 (n)
mouse
(Mus musculus)
Mammalia Mkks 16 34 33
  • 82.69 (n)
cow
(Bos Taurus)
Mammalia MKKS 34 33
  • 81.05 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MKKS 34
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MKKS 34
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves MKKS 34 33
  • 68.55 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MKKS 34
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mkks 33
  • 59.18 (n)
zebrafish
(Danio rerio)
Actinopterygii mkks 34 33
  • 53.42 (n)
OneToOne
-- 33
Species where no ortholog for MKKS was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MKKS: view image

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 Variation AA Info Type
rs1042883900 uncertain-significance, Bardet-Biedl syndrome, McKusick Kaufman syndrome 10,420,672(-) G/A 5_prime_UTR_variant, non_coding_transcript_variant
rs1057516054 pathogenic, McKusick Kaufman syndrome 10,405,626(-) A/C coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs113994194 benign, Bardet-Biedl syndrome 10,413,588(-) C/T 5_prime_UTR_variant, intron_variant
rs113994195 pathogenic, Bardet-Biedl syndrome 10,413,074(-) AGTACTACTAAAGT/AGT coding_sequence_variant, frameshift, intron_variant
rs113994196 pathogenic, Bardet-Biedl syndrome 10,412,639(-) CAGG/CAGGCAGG coding_sequence_variant, frameshift, intron_variant

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)

Additional Variant Information for MKKS Gene

Human Gene Mutation Database (HGMD)
MKKS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MKKS

SNP Genotyping and Copy Number Assay Products

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

Disorders for MKKS Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
mckusick-kaufman syndrome
  • mkks
bardet-biedl syndrome 6
  • bbs6
bardet-biedl syndrome
  • biedl-bardet syndrome
bardet-biedl syndrome 1
  • bbs1
pyosalpinx
  • pyosalpingitis
- 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
  • 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, ECO:0000269 PubMed:28753627}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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:15731008, ECO:0000269 PubMed:15770229, ECO:0000269 PubMed:18094050, ECO:0000269 PubMed:20080638, ECO:0000269 PubMed:21344540, ECO:0000269 PubMed:22152675, ECO:0000269 PubMed:26900326, ECO:0000269 PubMed:28753627, ECO:0000269 PubMed:28761321}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MKKS

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

No data available for Genatlas for MKKS Gene

Publications for MKKS Gene

  1. BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. (PMID: 20080638) Seo S … Sheffield VC (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 4 22 58
  2. Association between BBS6/MKKS gene polymorphisms, obesity and metabolic syndrome in the Greek population. (PMID: 18813213) Rouskas K … Kouvatsi A (International journal of obesity (2005) 2008) 3 22 44 58
  3. Variation of the McKusick-Kaufman gene and studies of relationships with common forms of obesity. (PMID: 15483080) Andersen KL … Pedersen O (The Journal of clinical endocrinology and metabolism 2005) 3 4 44 58
  4. 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 JC … Leroux MR (Journal of cell science 2005) 3 4 22 58
  5. Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci. (PMID: 11179009) Beales PL … Lupski JR (American journal of human genetics 2001) 3 4 22 58

Products for MKKS Gene

Sources for MKKS Gene

Content
Loading form....