Human Gene TUBB (ENST00000330914.7) from GENCODE V44
Description: Homo sapiens tubulin beta class I (TUBB), transcript variant 6, mRNA. (from RefSeq NM_001293216)
RefSeq Summary (NM_001293215): This gene encodes a beta tubulin protein. This protein forms a dimer with alpha tubulin and acts as a structural component of microtubules. Mutations in this gene cause cortical dysplasia, complex, with other brain malformations 6. Alternative splicing results in multiple splice variants. There are multiple pseudogenes for this gene on chromosomes 1, 6, 7, 8, 9, and 13. [provided by RefSeq, Jun 2014].
Gencode Transcript: ENST00000330914.7
Gencode Gene: ENSG00000196230.14
Transcript (Including UTRs)
Position: hg38 chr6:30,721,574-30,725,426 Size: 3,853 Total Exon Count: 4 Strand: +
Coding Region
Position: hg38 chr6:30,722,968-30,724,397 Size: 1,430 Coding Exon Count: 2
Data last updated at UCSC: 2023-08-18 00:09:47
Sequence and Links to Tools and Databases
Comments and Description Text from UniProtKB
ID: Q5ST81_HUMAN
DESCRIPTION: SubName: Full=Tubulin beta chain; SubName: Full=Tubulin beta polypeptide; SubName: Full=Tubulin, beta;
FUNCTION: Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha-chain (By similarity).SUBUNIT: Dimer of alpha and beta chains (By similarity).SIMILARITY: Belongs to the tubulin family.
Primer design for this transcript
MalaCards Disease Associations
MalaCards Gene Search: TUBB
Diseases sorted by gene-association score: cortical dysplasia, complex, with other brain malformations 6 * (1342), symmetric circumferential skin creases, congenital, 1 * (1200), multiple benign circumferential skin creases on limbs * (750), dementia, familial danish (13), lung mucoepidermoid carcinoma (9), dementia, familial british (9), giant axonal neuropathy (8), distal hereditary motor neuropathy, type ii (7), charcot-marie-tooth disease, axonal, type 2k (5), microcephaly (2), intellectual disability (2), ovarian cancer, somatic (1), leber congenital amaurosis (1)* = Manually curated disease association
Comparative Toxicogenomics Database (CTD)
The following chemicals interact with this gene
C517041
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)
C016614
1-nitronaphthalene
C511295
2,2,4,4-tetrabromodiphenyl ether
C029497
2,3-bis(3'-hydroxybenzyl)butyrolactone
C440850
2,4,3',5'-tetramethoxystilbene
C030370
2-methoxy-5-(2',3',4'-trimethoxyphenyl)tropone
D015123
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide
C547126
AZM551248
D000117
Acetylglucosamine
D000643
Ammonium Chloride
more ... click here to view the complete list
RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
InterPro Domains: Graphical view of domain structure IPR002453 - Beta_tubulin
IPR008280 - Tub_FtsZ_C
IPR000217 - Tubulin
IPR018316 - Tubulin/FtsZ_2-layer-sand-dom
IPR023123 - Tubulin_C
IPR017975 - Tubulin_CS
IPR003008 - Tubulin_FtsZ_GTPase
Pfam Domains: PF00091 - Tubulin/FtsZ family, GTPase domain
PF03953 - Tubulin C-terminal domain
ModBase Predicted Comparative 3D Structure on Q5ST81
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Descriptions from all associated GenBank mRNAs
KJ904004 - Synthetic construct Homo sapiens clone ccsbBroadEn_13398 TUBB gene, encodes complete protein.AK303227 - Homo sapiens cDNA FLJ52378 complete cds, highly similar to Tubulin beta-7 chain.BC020946 - Homo sapiens tubulin, beta, mRNA (cDNA clone MGC:26663 IMAGE:4795692), complete cds.AK302195 - Homo sapiens cDNA FLJ52029 complete cds, highly similar to Tubulin beta-7 chain.AK297638 - Homo sapiens cDNA FLJ53063 complete cds, highly similar to Tubulin beta-7 chain.BC085007 - Homo sapiens cDNA clone IMAGE:6598943, **** WARNING: chimeric clone ****.AK316265 - Homo sapiens cDNA, FLJ79164 complete cds, highly similar to Tubulin beta-7 chain.AK098772 - Homo sapiens cDNA FLJ25906 fis, clone CBR04603, highly similar to TUBULIN BETA-5 CHAIN.BC103746 - Homo sapiens tubulin, beta, mRNA (cDNA clone MGC:117247 IMAGE:6503977), complete cds.AF141349 - Homo sapiens beta-tubulin mRNA, complete cds.AF070600 - Homo sapiens clone 24464 beta-tubulin mRNA, complete cds.BC070326 - Homo sapiens tubulin, beta, mRNA (cDNA clone MGC:88329 IMAGE:6698679), complete cds.BC002347 - Homo sapiens tubulin, beta, mRNA (cDNA clone MGC:8668 IMAGE:2964461), complete cds.BC007605 - Homo sapiens tubulin, beta, mRNA (cDNA clone MGC:15683 IMAGE:3350604), complete cds.AB062393 - Homo sapiens OK/SW-cl.56 mRNA for beta 5-tubulin, complete cds.BC001938 - Homo sapiens tubulin, beta, mRNA (cDNA clone MGC:4101 IMAGE:2820585), complete cds.BC005838 - Homo sapiens tubulin, beta, mRNA (cDNA clone MGC:2440 IMAGE:2820585), complete cds.AF070561 - Homo sapiens clone 24703 beta-tubulin mRNA, complete cds.AF070593 - Homo sapiens clones 24609 and 24716 beta-tubulin mRNA, complete cds.BC013374 - Homo sapiens tubulin, beta, mRNA (cDNA clone MGC:16435 IMAGE:3946253), complete cds.BC021909 - Homo sapiens tubulin, beta, mRNA (cDNA clone MGC:15853 IMAGE:3509417), complete cds.BC019924 - Homo sapiens tubulin, beta, mRNA (cDNA clone MGC:30201 IMAGE:4998571), complete cds.BC062532 - Homo sapiens tubulin, beta, mRNA (cDNA clone IMAGE:3637650), complete cds.AK297489 - Homo sapiens cDNA FLJ53012 complete cds, highly similar to Tubulin beta-7 chain.DQ891742 - Synthetic construct clone IMAGE:100004372; FLH180257.01X; RZPDo839A03134D tubulin, beta (TUBB) gene, encodes complete protein.DQ891828 - Synthetic construct Homo sapiens clone IMAGE:100004458; FLH263550.01X; RZPDo839B02134D tubulin, beta (TUBB) gene, encodes complete protein.DQ894920 - Synthetic construct Homo sapiens clone IMAGE:100009380; FLH180253.01L; RZPDo839A03133D tubulin, beta (TUBB) gene, encodes complete protein.AB463327 - Synthetic construct DNA, clone: pF1KB9038, Homo sapiens TBB5 gene for Tubulin beta chain, without stop codon, in Flexi system.CU676482 - Synthetic construct Homo sapiens gateway clone IMAGE:100019426 5' read TUBB mRNA.KJ895812 - Synthetic construct Homo sapiens clone ccsbBroadEn_05206 TUBB gene, encodes complete protein.GQ900970 - Homo sapiens clone HEL-T-82 epididymis secretory sperm binding protein mRNA, partial cds.V00599 - Human mRNA fragment encoding beta-tubulin. (from clone D-beta-1).LF210809 - JP 2014500723-A/18312: Polycomb-Associated Non-Coding RNAs.MA446386 - JP 2018138019-A/18312: Polycomb-Associated Non-Coding RNAs.AK298889 - Homo sapiens cDNA FLJ50617 complete cds, highly similar to Tubulin beta-7 chain.AK316316 - Homo sapiens cDNA, FLJ79215 complete cds, highly similar to Tubulin beta-7 chain.AK302314 - Homo sapiens cDNA FLJ56903 complete cds, highly similar to Tubulin beta-7 chain.LF341324 - JP 2014500723-A/148827: Polycomb-Associated Non-Coding RNAs.MA576901 - JP 2018138019-A/148827: Polycomb-Associated Non-Coding RNAs.Z36874 - H.sapiens (xs127) mRNA, 106bp.LF341322 - JP 2014500723-A/148825: Polycomb-Associated Non-Coding RNAs.MA576899 - JP 2018138019-A/148825: Polycomb-Associated Non-Coding RNAs.AK309684 - Homo sapiens cDNA, FLJ99725.BC001896 - Homo sapiens tubulin, beta, mRNA (cDNA clone IMAGE:3544415), partial cds.LF341321 - JP 2014500723-A/148824: Polycomb-Associated Non-Coding RNAs.MA576898 - JP 2018138019-A/148824: Polycomb-Associated Non-Coding RNAs.LF341319 - JP 2014500723-A/148822: Polycomb-Associated Non-Coding RNAs.MA576896 - JP 2018138019-A/148822: Polycomb-Associated Non-Coding RNAs.DQ457058 - Homo sapiens XTP3TPA-transactivated protein 1 (XTP3TPATP1) mRNA, XTP3TPATP1-S allele, complete cds.BC029323 - Homo sapiens tubulin, beta, mRNA (cDNA clone IMAGE:4705792).BC015889 - Homo sapiens tubulin, beta, mRNA (cDNA clone IMAGE:3922098), partial cds.JD022558 - Sequence 3582 from Patent EP1572962.JD035170 - Sequence 16194 from Patent EP1572962.LF341318 - JP 2014500723-A/148821: Polycomb-Associated Non-Coding RNAs.MA576895 - JP 2018138019-A/148821: Polycomb-Associated Non-Coding RNAs.DQ595633 - Homo sapiens piRNA piR-61745, complete sequence.LF341317 - JP 2014500723-A/148820: Polycomb-Associated Non-Coding RNAs.MA576894 - JP 2018138019-A/148820: Polycomb-Associated Non-Coding RNAs.LF341316 - JP 2014500723-A/148819: Polycomb-Associated Non-Coding RNAs.MA576893 - JP 2018138019-A/148819: Polycomb-Associated Non-Coding RNAs.DQ584144 - Homo sapiens piRNA piR-51256, complete sequence.CU687552 - Synthetic construct Homo sapiens gateway clone IMAGE:100023005 5' read TUBB mRNA.DQ580576 - Homo sapiens piRNA piR-48688, complete sequence.JD069440 - Sequence 50464 from Patent EP1572962.DQ578159 - Homo sapiens piRNA piR-46271, complete sequence.BC001002 - Homo sapiens tubulin, beta, mRNA (cDNA clone IMAGE:3447696).EF036509 - Homo sapiens beta-4 tubulin mRNA, partial cds.JD066379 - Sequence 47403 from Patent EP1572962.JD224388 - Sequence 205412 from Patent EP1572962.JD190991 - Sequence 172015 from Patent EP1572962.JD412324 - Sequence 393348 from Patent EP1572962.JD060024 - Sequence 41048 from Patent EP1572962.JD506890 - Sequence 487914 from Patent EP1572962.JD345791 - Sequence 326815 from Patent EP1572962.JD345792 - Sequence 326816 from Patent EP1572962.JD241909 - Sequence 222933 from Patent EP1572962.JD241910 - Sequence 222934 from Patent EP1572962.JD076314 - Sequence 57338 from Patent EP1572962.JD235731 - Sequence 216755 from Patent EP1572962.JD120231 - Sequence 101255 from Patent EP1572962.JD491318 - Sequence 472342 from Patent EP1572962.JD402371 - Sequence 383395 from Patent EP1572962.JD308374 - Sequence 289398 from Patent EP1572962.JD564867 - Sequence 545891 from Patent EP1572962.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa04540 - Gap junctionhsa05130 - Pathogenic Escherichia coli infection
Other Names for This Gene
Alternate Gene Symbols: DAAP-285E11.4-002, DADB-118P11.3-002, DAMA-26D6.3-002, DAMC-316D20.4-002, DAQB-47P19.9-002, DASS-191K16.2-002, ENST00000330914.1, ENST00000330914.2, ENST00000330914.3, ENST00000330914.4, ENST00000330914.5, ENST00000330914.6, NM_001293216, Q5ST81, Q5ST81_HUMAN, uc011dmq.1, uc011dmq.2, uc011dmq.3UCSC ID: ENST00000330914.7RefSeq Accession: NM_001293215
Protein: Q5ST81
CCDS: CCDS78124.1
GeneReviews for This Gene
GeneReviews article(s) related to gene TUBB:tubulin-ov (Tubulinopathies Overview)
Methods, Credits, and Use Restrictions
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for details on how this gene model was made and data restrictions if any.