ENSMUSG00000027274


Mus musculus

Features
Gene ID: ENSMUSG00000027274
  
Biological name :Mkks
  
Synonyms : McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin / Mkks / Q9JI70
  
Possible biological names infered from orthology : McKusick-Kaufman syndrome / Q9NPJ1
  
Species: Mus musculus
  
Chr. number: 2
Strand: -1
Band: F3
Gene start: 136873780
Gene end: 136891389
  
Corresponding Affymetrix probe sets: 10488048 (MoGene1.0st)   1422627_a_at (Mouse Genome 430 2.0 Array)   1454014_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000028730
Ensembl peptide - ENSMUSP00000105716
Ensembl peptide - ENSMUSP00000121494
NCBI entrez gene - 59030     See in Manteia.
MGI - MGI:1891836
RefSeq - XM_011239721
RefSeq - NM_001141946
RefSeq - NM_001286981
RefSeq - NM_001286983
RefSeq - NM_021527
RefSeq - XM_006499970
RefSeq Peptide - NP_001273912
RefSeq Peptide - NP_067502
RefSeq Peptide - NP_001135418
RefSeq Peptide - NP_001273910
swissprot - Q9JI70
Ensembl - ENSMUSG00000027274
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 mkksENSDARG00000016139Danio rerio
 MKKSENSGALG00000009013Gallus gallus
 MKKSENSG00000125863Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR002423  Chaperonin Cpn60/TCP-1 family
 IPR027409  GroEL-like apical domain superfamily
 IPR027413  GroEL-like equatorial domain superfamily
 IPR028790  McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006457 protein folding IEA
 biological_processGO:0006458 "de novo" protein folding IBA
 biological_processGO:0007286 spermatid development IMP
 biological_processGO:0007608 sensory perception of smell IMP
 biological_processGO:0010629 negative regulation of gene expression IMP
 biological_processGO:0014824 artery smooth muscle contraction IMP
 biological_processGO:0021756 striatum development IMP
 biological_processGO:0021766 hippocampus development IMP
 biological_processGO:0021987 cerebral cortex development IMP
 biological_processGO:0030837 negative regulation of actin filament polymerization IMP
 biological_processGO:0033210 leptin-mediated signaling pathway IMP
 biological_processGO:0034260 negative regulation of GTPase activity IMP
 biological_processGO:0035176 social behavior IMP
 biological_processGO:0038108 negative regulation of appetite by leptin-mediated signaling pathway IMP
 biological_processGO:0040018 positive regulation of multicellular organism growth IMP
 biological_processGO:0042311 vasodilation IMP
 biological_processGO:0044321 response to leptin IMP
 biological_processGO:0045444 fat cell differentiation IEP
 biological_processGO:0045494 photoreceptor cell maintenance IMP
 biological_processGO:0045776 negative regulation of blood pressure IMP
 biological_processGO:0048854 brain morphogenesis IMP
 biological_processGO:0050910 detection of mechanical stimulus involved in sensory perception of sound IMP
 biological_processGO:0051131 chaperone-mediated protein complex assembly IMP
 biological_processGO:0051216 cartilage development IMP
 biological_processGO:0051492 regulation of stress fiber assembly IMP
 biological_processGO:0060271 cilium assembly ISO
 biological_processGO:0060296 regulation of cilium beat frequency involved in ciliary motility IMP
 biological_processGO:0060324 face development IMP
 biological_processGO:0061077 chaperone-mediated protein folding IBA
 biological_processGO:1905515 non-motile cilium assembly IMP
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005737 cytoplasm ISS
 cellular_componentGO:0005813 centrosome IEA
 cellular_componentGO:0005815 microtubule organizing center IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0031514 motile cilium IMP
 cellular_componentGO:0036064 ciliary basal body IDA
 cellular_componentGO:1902636 kinociliary basal body IDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0001103 RNA polymerase II repressing transcription factor binding IEA
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0044183 protein binding involved in protein folding IBA
 molecular_functionGO:0051082 unfolded protein binding IBA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000914 exencephaly "neurocranial defects resulting in exposure or extrusion of the brain" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
Show

Allelic Composition: Tal1Hpt/Tal1+
Genetic Background: HPT/Le

 MP:0001261 obese "excessively fat; an increase in fat in the subcutaneous connective tissue" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
Show

Allelic Composition: Hprttm1.1Pobe/?
Genetic Background: involves: 129P2/OlaHsd

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
Show

Allelic Composition: Hprttm1.1Pobe/?
Genetic Background: involves: 129P2/OlaHsd

 MP:0001302 eyelids open at birth "widely open eyes instead of closed at perinatal stage" [J:51966]
Show

Allelic Composition: Tal1Hpt/Tal1+
Genetic Background: HPT/Le

 MP:0001326 retinal degeneration "pathological change in the thin layer of neural tissue lining the back of the eyeball, which contains visual receptors and can result in the impairment or cessation of retinal neural function" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, NMF:Stephanie Pretel, Neuroscience Mutagenesis Facility Curator]
Show

Allelic Composition: Hprttm1.1Pobe/?
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: MkksGt(OST367255)Lex/MkksGt(OST367255)Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

 MP:0001402 hypoactivity "reduced movement from one place to another" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:64289]
Show

Allelic Composition: Hprttm1.1Pobe/?
Genetic Background: involves: 129P2/OlaHsd

 MP:0001925 male infertility "inability of male to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]
Show

Allelic Composition: Hprttm1.1Pobe/?
Genetic Background: involves: 129P2/OlaHsd

 MP:0001984 abnormal olfaction "change in the ability to smell" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Hprttm1.1Pobe/?
Genetic Background: involves: 129P2/OlaHsd

 MP:0002842 increased blood pressure "increased tension of the blood within the systemic arteries" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Hprttm1.1Pobe/?
Genetic Background: involves: 129P2/OlaHsd

 MP:0004491 abnormal orientation of outer hair cell stereociliary bundles "misorientation or rotation of outer hair cell (OHC) stereociliary bundles, resulting in defective planar cell polarity of the inner ear sensory epithelium " [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: MkksGt(OST367255)Lex/MkksGt(OST367255)Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

Allelic Composition: Vangl2Lp/Vangl2+,MkksGt(OST367255)Lex/Mkks+
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J * LPT/LeJ

 MP:0004512 anosmia "loss of the sense of smell" [mberry:Melissa Berry_Genetic Resources Curator]
Show

Allelic Composition: MkksGt(OST367255)Lex/MkksGt(OST367255)Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

 MP:0004527 abnormal outer hair cell stereociliary bundle morphology "any structural anomaly or disruption of the typical V or W-like pattern of arrangement of mechanosensitive hair bundles located at the apical end of cochlear OHCs; each hair bundle is normally composed of ~100 nonmotile, actin-filled microvilli (stereocilia) arranged in rows of increasing height and coupled to one another by morphologically distinct links: tip links, horizontal top connectors, shaft connectors, and ankle links; most hair bundles also possess a single motile kinocilium immediately adjacent to the tallest (outermost) row of stereocilia; a fifth link type, the kinocilial link, connects the kinocilium to its neighboring stereocilia" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Vangl2Lp/Vangl2+,MkksGt(OST367255)Lex/Mkks+
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J * LPT/LeJ

 MP:0004737 absent distortion product otoacoustic emissions "failure to create mechanical distortions in the inner ear when two primary tones are presented, indicating failure of outer hair cells to amplify basilar membrane motion" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: MkksGt(OST367255)Lex/MkksGt(OST367255)Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

 MP:0005656 decreased aggression "when compared to controls, subjects exhibit less than the normal level of domineering, assaultive posture and/or hostile physical action" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith, Mouse Genome Informatics curator]
Show

Allelic Composition: Hprttm1.1Pobe/?
Genetic Background: involves: 129P2/OlaHsd

 MP:0005669 increased circulating leptin level "greater than the normal blood concentration of the peptide hormone secreted by white adipocytes and believed to regulate food intake and energy balance" [MeSH:National Library of Medicine - Medical Subject Headings, 2003, J:34751]
Show

Allelic Composition: Hprttm1.1Pobe/?
Genetic Background: involves: 129P2/OlaHsd

 MP:0006254 thin cerebral cortex "decreased depth of the mantle covering the surface of the cerebral hemispheres" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:84683]
Show

Allelic Composition: Bbs1tm1Vcs/Bbs1tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0006358 absent pinna reflex "complete failure to respond to an auditory stimulus by a characteristic ear twitch" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: MkksGt(OST367255)Lex/MkksGt(OST367255)Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

 MP:0008283 small hippocampus "reduced size of the deep lying structure of the cerebrum involved with memory storage and spatial navigation" [ISBN:0-12-402035-6 "Kaufman, MH The Atlas of Mouse Development", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Bbs1tm1Vcs/Bbs1tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0008535 enlarged lateral ventricles "increased size of the cavity in each of the cerebral hemispheres derived from the cavity of the embryonic neural tube; they are separated from each other by the septum pellucidum, and each communicates with the third ventricle by the foramen of Monro, through which also the choroid plexuses of the lateral ventricles become continuous with that of the third ventricle" [MESH:A08.186.211.276.650, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Bbs1tm1Vcs/Bbs1tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0008536 enlarged third ventricle "increased size of the narrow cleft inferior to the corpus callosum, within the diencephalon, between the paired thalami; its floor is formed by the hypothalamus, its anterior wall by the lamina terminalis, and its roof by ependyma; it communicates with the fourth ventricle by the cerebral aqueduct, and with the lateral ventricles by the interventricular foramina" [MESH:A08.186.211.276.840, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Bbs1tm1Vcs/Bbs1tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0008545 absent sperm flagella "mature spermatozoa lack a flagella" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Hprttm1.1Pobe/?
Genetic Background: involves: 129P2/OlaHsd

 MP:0008789 abnormal olfactory epithelium morphology "any structural anomaly in the epithelial cells that line the interior of the nose" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: MkksGt(OST367255)Lex/MkksGt(OST367255)Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

 MP:0011061 abnormal inner hair cell kinocilium morphology "any structural anomaly of the nonmotile primary cilium that is found at the apical surface of inner hair cells" [GO:0060091]
Show

Allelic Composition: MkksGt(OST367255)Lex/MkksGt(OST367255)Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

 MP:0011098 complete embryonic lethality during organogenesis "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
Show

Allelic Composition: Vangl2Lp/Vangl2+,MkksGt(OST367255)Lex/Mkks+
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J * LPT/LeJ

 MP:0011101 partial prenatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
Show

Allelic Composition: Hprttm1.1Pobe/?
Genetic Background: involves: 129P2/OlaHsd

 MP:0012468 decreased striatum area "reduced size of a large cluster of dopaminergic nerve cells, consisting of the caudate nucleus and the putamen, that controls movement, balance, and walking" [ISBN:0838580343, MGI:csmith]
Show

Allelic Composition: Bbs1tm1Vcs/Bbs1tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0020351 decreased vocalization "decrease in the production of vocal sound" [ORCID: orcid.org/0000-0003-4606-0597, PMID:26621702]
Show

Allelic Composition: Hprttm1.1Pobe/?
Genetic Background: involves: 129P2/OlaHsd

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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