ENSG00000196230


Homo sapiens

Features
Gene ID: ENSG00000196230
  
Biological name :TUBB
  
Synonyms : P07437 / TUBB / tubulin beta class I
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: 1
Band: p21.33
Gene start: 30720201
Gene end: 30725426
  
Corresponding Affymetrix probe sets: 209026_x_at (Human Genome U133 Plus 2.0 Array)   211714_x_at (Human Genome U133 Plus 2.0 Array)   212320_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000339001
Ensembl peptide - ENSP00000365578
Ensembl peptide - ENSP00000379668
Ensembl peptide - ENSP00000379672
NCBI entrez gene - 203068     See in Manteia.
OMIM - 191130
RefSeq - NM_178014
RefSeq - NM_001293212
RefSeq - NM_001293213
RefSeq - NM_001293214
RefSeq - NM_001293215
RefSeq - NM_001293216
RefSeq Peptide - NP_001280141
RefSeq Peptide - NP_001280142
RefSeq Peptide - NP_001280143
RefSeq Peptide - NP_001280144
RefSeq Peptide - NP_001280145
RefSeq Peptide - NP_821133
swissprot - P07437
swissprot - Q5JP53
swissprot - Q5ST81
swissprot - Q5SU16
Ensembl - ENSG00000196230
  
Related genetic diseases (OMIM): 156610 - Symmetric circumferential skin creases, congenital, 1, 156610
  615771 - Cortical dysplasia, complex, with other brain malformations 6, 615771
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
 tubb5ENSDARG00000037997Danio rerio
 Tubb5ENSMUSG00000001525Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
P68371 / TUBB4B / tubulin beta 4B class IVbENSG0000018822998
Q9BVA1 / TUBB2B / tubulin beta 2B class IIbENSG0000013728596
P04350 / TUBB4A / tubulin beta 4A class IVaENSG0000010483396
Q13885 / TUBB2A / tubulin beta 2A class IIaENSG0000013726795
TUBB3 / Q13509 / tubulin beta 3 class IIIENSG0000025894792
TUBB6 / Q9BUF5 / tubulin beta 6 class VENSG0000017601491
TUBB8 / Q3ZCM7 / tubulin beta 8 class VIIIENSG0000026145689
AC092143.1ENSG0000019821189
A6NNZ2 / TUBB8P12 / tubulin beta 8 pseudogene 12ENSG0000017321387
TUBB1 / Q9H4B7 / tubulin beta 1 class VIENSG0000010116278
TUBE1 / Q9UJT0 / tubulin epsilon 1ENSG0000007493534
TUBD1 / Q9UJT1 / tubulin delta 1ENSG0000010842322
MC1R / Q01726 / melanocortin 1 receptorENSG000002588392


Protein motifs (from Interpro)
Interpro ID Name
 IPR000217  Tubulin
 IPR002453  Beta tubulin
 IPR003008  Tubulin/FtsZ, GTPase domain
 IPR008280  Tubulin/FtsZ, C-terminal
 IPR013838  Beta tubulin, autoregulation binding site
 IPR017975  Tubulin, conserved site
 IPR018316  Tubulin/FtsZ, 2-layer sandwich domain
 IPR036525  Tubulin/FtsZ, GTPase domain superfamily
 IPR037103  Tubulin/FtsZ, C-terminal domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000086 G2/M transition of mitotic cell cycle TAS
 biological_processGO:0007010 cytoskeleton organization IEA
 biological_processGO:0007017 microtubule-based process IEA
 biological_processGO:0009987 cellular process IDA
 biological_processGO:0010389 regulation of G2/M transition of mitotic cell cycle TAS
 biological_processGO:0030705 cytoskeleton-dependent intracellular transport TAS
 biological_processGO:0042267 natural killer cell mediated cytotoxicity NAS
 biological_processGO:0043312 neutrophil degranulation TAS
 biological_processGO:0051225 spindle assembly IEA
 biological_processGO:0051301 cell division TAS
 biological_processGO:0097711 ciliary basal body-plasma membrane docking TAS
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005641 nuclear envelope lumen IDA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005856 cytoskeleton TAS
 cellular_componentGO:0005874 microtubule IEA
 cellular_componentGO:0035578 azurophil granule lumen TAS
 cellular_componentGO:0036464 cytoplasmic ribonucleoprotein granule IDA
 cellular_componentGO:0044297 cell body IDA
 cellular_componentGO:0045121 membrane raft IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003924 GTPase activity IEA
 molecular_functionGO:0005198 structural molecule activity TAS
 molecular_functionGO:0005200 structural constituent of cytoskeleton IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005525 GTP binding IEA
 molecular_functionGO:0019904 protein domain specific binding IEA
 molecular_functionGO:0031625 ubiquitin protein ligase binding IPI
 molecular_functionGO:0032794 GTPase activating protein binding IEA
 molecular_functionGO:0042288 MHC class I protein binding IDA


Pathways (from Reactome)
Pathway description
Regulation of PLK1 Activity at G2/M Transition
Loss of Nlp from mitotic centrosomes
Recruitment of mitotic centrosome proteins and complexes
Loss of proteins required for interphase microtubule organization from the centrosome
Recruitment of NuMA to mitotic centrosomes
Anchoring of the basal body to the plasma membrane
Neutrophil degranulation
AURKA Activation by TPX2


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000023 Inguinal hernia 
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 HP:0000028 Cryptorchidism "Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:curators]
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 HP:0000046 Scrotal hypoplasia 
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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:0000160 Microstomia "The presence of an abnormally small `mouth` (FMA:49184)." [HPO:curators]
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 HP:0000175 Cleft palate "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes." [HPO:curators]
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 HP:0000218 High palate "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428]
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 HP:0000248 Brachycephaly "Brachycephaly refers to a short, wide head, which is often caused by premature closure of both coronal sutures." [HPO:curators]
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 HP:0000252 Microcephaly "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators]
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 HP:0000286 Epicanthus "An epicanthal fold is a semilunar fold of skin that extends from the upper eyelid across the medial canthal area to the lower eyelid." [HPO:curators]
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 HP:0000316 Hypertelorism 
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 HP:0000343 Long philtrum 
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 HP:0000347 Mandibular hypoplasia "Underdevelopment of the mandible." [HPO:curators]
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 HP:0000358 Posteriorly rotated ears "A type of `abnormal location of the ears` (HP:0000357) in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front)." [HPO:probinson]
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 HP:0000368 Low-set, posteriorly rotated ears 
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 HP:0000369 Low-set ears "Low-set ears are defined to be set below an arbitrary line drawn between the lateral canthus of the eye and the occipital protruberance." [HPO:curators]
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 HP:0000470 Short neck 
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 HP:0000482 Microcornea "A congenital abnormality of the `cornea` (FMA:58238) in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood." [HPO:probinson]
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 HP:0000488 Retinopathy 
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 HP:0000568 Microphthalmos "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:curators]
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 HP:0000581 Blepharophimosis "Reduced width of the palpebral fissures." [HPO:sdoelken]
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 HP:0000582 Upslanting palpebral fissures 
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 HP:0000629 Periorbital fullness 
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 HP:0000750 Impaired language development 
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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:0000951 Abnormality of the skin "An abnormality of the `skin` (FMA:7163)." [HPO:probinson]
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 HP:0000969 Edema "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Edema may be related to one or more of the following factors: 1) increased capillary hydrostatic pressure, 2) decreased osmotic pressure of plasma, 3) decreased tissue tension and lymphatic drainage, 4) increased osmotic pressure of tissue fluids, and 5) increased capillary permeability." [HPO:curators]
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 HP:0001072 Thickened skin 
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 HP:0001249 Mental retardation 
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 HP:0001251 Ataxia "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators]
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001270 Motor retardation 
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 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
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 HP:0001305 Dandy-Walker malformation "A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman s terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the body s ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal." [HPO:curators]
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 HP:0001321 Cerebellar hypoplasia 
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 HP:0001537 Umbilical hernia "Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect." [HPO:curators]
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 HP:0001635 Congestive heart failure "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:curators]
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 HP:0002079 Hypoplasia of the corpus callosum "Underdevelopment of the corpus callosum." [HPO:curators]
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 HP:0002126 Polymicrogyria "A congenital abnormality of the cerebral hemisphere characterized by an excessive number of small gyri (convolutions) on the surface of the brain." [HPO:curators]
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 HP:0002230 Generalized hirsutism "Abnormally increased hair growth over much of the entire body." [HPO:curators]
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 HP:0002365 Hypoplasia of the brainstem 
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 HP:0002539 Cortical dysplasia 
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 HP:0002557 Hypoplastic nipples 
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 HP:0003011 Abnormality of musculature "Abnormality originating in one or more muscles." [HPO:curators]
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 HP:0003577 Onset at birth 
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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:0006610 Wide intermamillary distance 
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 HP:0006768 Localized neuroblastoma 
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 HP:0006855 Cerebellar vermis atrophy 
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 HP:0007400 Irregular hyperpigmentation 
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 HP:0007522 Increased number of skin folds 
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 HP:0007973 Retinal dysplasia 
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 HP:0008572 External ear malformation 
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 HP:0012368 Flat face "Absence of concavity or convexity of the face when viewed in profile." [pmid:19125436]
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 HP:0012745 Short palpebral fissure "Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures." [pmid:19125427]
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 HP:0030680 Abnormality of cardiovascular system morphology "Any structural anomaly of the heart and great vessels." []
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 HP:0100559 Lower limb asymmetry 
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 HP:0100560 Upper limb asymmetry 
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 HP:0100807 Long fingers "The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand." [pmid:19125433]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
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