ENSG00000044090


Homo sapiens

Features
Gene ID: ENSG00000044090
  
Biological name :CUL7
  
Synonyms : CUL7 / cullin 7 / Q14999
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: -1
Band: p21.1
Gene start: 43037617
Gene end: 43053945
  
Corresponding Affymetrix probe sets: 203558_at (Human Genome U133 Plus 2.0 Array)   241746_at (Human Genome U133 Plus 2.0 Array)   241747_s_at (Human Genome U133 Plus 2.0 Array)   36084_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000265348
Ensembl peptide - ENSP00000438788
NCBI entrez gene - 9820     See in Manteia.
OMIM - 609577
RefSeq - XM_017011539
RefSeq - NM_001168370
RefSeq - NM_014780
RefSeq - XM_017011536
RefSeq - XM_017011537
RefSeq - XM_017011538
RefSeq - XM_005249503
RefSeq - XM_006715285
RefSeq - XM_011515019
RefSeq - XM_011515020
RefSeq - XM_011515021
RefSeq - XM_017011533
RefSeq - XM_017011534
RefSeq - XM_017011535
RefSeq Peptide - NP_055595
RefSeq Peptide - NP_001161842
swissprot - Q14999
Ensembl - ENSG00000044090
  
Related genetic diseases (OMIM): 273750 - 3-M syndrome 1, 273750
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 Cul7ENSMUSG00000038545Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CUL9 / Q8IWT3 / cullin 9ENSG0000011265958
ZZEF1 / O43149 / zinc finger ZZ-type and EF-hand domain containing 1ENSG0000007475516


Protein motifs (from Interpro)
Interpro ID Name
 IPR001373  Cullin, N-terminal
 IPR004939  APC10/DOC domain
 IPR008979  Galactose-binding-like domain superfamily
 IPR011989  Armadillo-like helical
 IPR014722  Ribosomal protein L2, domain 2
 IPR016024  Armadillo-type fold
 IPR016158  Cullin homology domain
 IPR019559  Cullin protein, neddylation domain
 IPR021097  CPH domain
 IPR031223  Cullin-7
 IPR036317  Cullin homology domain superfamily
 IPR036388  Winged helix-like DNA-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000226 microtubule cytoskeleton organization IMP
 biological_processGO:0000281 mitotic cytokinesis IMP
 biological_processGO:0001570 vasculogenesis IEA
 biological_processGO:0001837 epithelial to mesenchymal transition IDA
 biological_processGO:0001890 placenta development IDA
 biological_processGO:0006508 proteolysis NAS
 biological_processGO:0006511 ubiquitin-dependent protein catabolic process IEA
 biological_processGO:0007030 Golgi organization ISS
 biological_processGO:0007088 regulation of mitotic nuclear division IMP
 biological_processGO:0016032 viral process IEA
 biological_processGO:0016567 protein ubiquitination TAS
 biological_processGO:0036498 IRE1-mediated unfolded protein response TAS
 biological_processGO:0043687 post-translational protein modification TAS
 biological_processGO:0050775 positive regulation of dendrite morphogenesis ISS
 cellular_componentGO:0005680 anaphase-promoting complex NAS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005813 centrosome IDA
 cellular_componentGO:0005815 microtubule organizing center IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0031467 Cul7-RING ubiquitin ligase complex IDA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 cellular_componentGO:1990393 3M complex IDA
 molecular_functionGO:0005488 binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0031625 ubiquitin protein ligase binding IEA


Pathways (from Reactome)
Pathway description
XBP1(S) activates chaperone genes
Neddylation
Antigen processing: Ubiquitination & Proteasome degradation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000047 Hypospadias "Displacement of the urethral opening on the ventral (inferior) surface of the penis." [HPO:curators]
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 HP:0000144 Decreased fertility 
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 HP:0000179 Prominent lower lip "Increased thickness of the lower lip, leading to a prominent appearance of the lower lip." [HPO:curators]
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 HP:0000232 Everted lower lip 
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 HP:0000268 Dolichocephaly 
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 HP:0000272 Malar hypoplasia "Underdeveloped midface region." [HPO:curators]
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 HP:0000303 Mandibular prognathia "Abnormal prominence of the chin related to an abnormally long mandible." [HPO:curators]
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 HP:0000307 Pointed chin 
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 HP:0000325 Triangular facies 
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 HP:0000337 Broad forehead "Abnormally large side-to-side distance of the forehead." [HPO:curators]
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 HP:0000343 Long philtrum 
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 HP:0000411 Protruding ears 
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 HP:0000414 Bulbous nose 
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 HP:0000463 Nares, anteverted "Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject." [pmid:19152422]
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 HP:0000470 Short neck 
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 HP:0000574 Thick eyebrows 
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 HP:0000682 Abnormality of dental enamel "An abnormality of the dental enamel, which is the external layer of the teeth, being a highly mineralized substance consisting primarily of hydroxylapatite." [HPO:curators]
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 HP:0000684 Delayed dentition "Delayed eruption of teeth." [HPO:curators]
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 HP:0000767 Pectus excavatum "A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance." [HPO:curators]
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 HP:0000773 Short ribs 
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 HP:0000883 Thin ribs 
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 HP:0000888 Short, horizontal ribs 
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 HP:0000944 Abnormality of the metaphyses 
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 HP:0001374 Congenital hip dislocation 
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 HP:0001382 Joint hypermobility "The ability of a joint to move beyond its normal range of motion." [HPO:curators]
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 HP:0001511 Intrauterine growth retardation 
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 HP:0001518 Low birth weight 
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 HP:0001763 Pes planus "A condition in which the arch of the foot is flat, with the entire sole of the foot being in near-complete contact with the ground." [HPO:curators]
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 HP:0001838 Vertical talus 
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 HP:0002007 Frontal bossing "The presence of an unusually prominent forehead." [HPO:curators]
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 HP:0002643 Neonatal respiratory distress 
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 HP:0002650 Scoliosis "The presence of an abnormal lateral curvature of the spine." [HPO:curators]
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 HP:0002750 Delayed skeletal maturation "A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators]
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 HP:0002808 Kyphosis 
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 HP:0002827 Dislocated hips 
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 HP:0002983 Micromelia 
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 HP:0003022 Hypoplasia of the ulna "Underdevelopment of the ulna." [HPO:curators]
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 HP:0003100 Thin long bones 
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 HP:0003173 Hypoplastic pubic bones 
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 HP:0003175 Hypoplastic ischia 
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 HP:0003298 Spina bifida occulta "The closed form of spina bifida." [HPO:curators]
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 HP:0003307 Hyperlordosis 
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 HP:0003691 Scapular winging 
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 HP:0004209 Clinodactyly of the 5th finger "Clinodactyly refers to a bending or curvature of the `fifth finger` (FMA:24949) in the radial direction (i.e., towards the 4th finger)." [HPO:curators]
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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 HP:0004570 Increased vertebral height 
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 HP:0005280 Depressed nasal root and bridge 
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 HP:0005692 Joint hyperflexibility 
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 HP:0008734 Decreased testicular size 
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 HP:0008839 Hypoplastic pelvis 
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 HP:0008897 Growth retardation, progressive 
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 HP:0009237 Hypoplastic/small 5th finger "Hypoplastic/small 5th (little) finger." [HPO:curators]
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 HP:0009811 Abnormality of the elbow 
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 HP:0010306 Short thorax "Reduced inferior to superior extent of the thorax." [HPO:curators]
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 HP:0011800 Midface retrusion "Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle." [DDD:jclayton-smith]
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 HP:0100625 Enlarged thorax 
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 HP:0100659 Abnormality of the cerebral vasculature 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000169515 CCDC8 / Q9H0W5 / coiled-coil domain containing 8  / complex
 ENSG00000100387 RBX1 / P62877 / ring-box 1  / complex / reaction
 ENSG00000129559 NEDD8 / Q15843 / neural precursor cell expressed, developmentally down-regulated 8  / reaction / complex
 ENSG00000112659 CUL9 / Q8IWT3 / cullin 9  / reaction / complex
 ENSG00000124006 OBSL1 / O75147 / obscurin like 1  / complex






 

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