ENSG00000127824


Homo sapiens

Features
Gene ID: ENSG00000127824
  
Biological name :TUBA4A
  
Synonyms : P68366 / TUBA4A / tubulin alpha 4a
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: -1
Band: q35
Gene start: 219249711
Gene end: 219278170
  
Corresponding Affymetrix probe sets: 212242_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000248437
Ensembl peptide - ENSP00000375938
Ensembl peptide - ENSP00000416992
Ensembl peptide - ENSP00000408194
Ensembl peptide - ENSP00000404740
Ensembl peptide - ENSP00000396212
Ensembl peptide - ENSP00000396061
NCBI entrez gene - 7277     See in Manteia.
OMIM - 191110
RefSeq - XM_017004824
RefSeq - NM_001278552
RefSeq - NM_006000
RefSeq Peptide - NP_001265481
RefSeq Peptide - NP_005991
swissprot - P68366
swissprot - C9JQ00
swissprot - C9JJQ8
swissprot - C9JDS9
swissprot - C9JEV8
swissprot - C9JDL2
Ensembl - ENSG00000127824
  
Related genetic diseases (OMIM): 616208 - Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, 616208
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
 tuba8l2ENSDARG00000031164Danio rerio
 ENSGALG00000011324Gallus gallus
 ENSGALG00000000433Gallus gallus
 P68368ENSMUSG00000026202Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
P68363 / TUBA1B / tubulin alpha 1bENSG0000012341697
Q9BQE3 / TUBA1C / tubulin alpha 1cENSG0000016755396
Q71U36 / TUBA1A / tubulin alpha 1aENSG0000016755296
Q13748 / TUBA3C / tubulin alpha 3cENSG0000019803395
Q13748 / TUBA3D / tubulin alpha 3dENSG0000007588695
Q6PEY2 / TUBA3E / tubulin alpha 3eENSG0000015208693
Q9H853 / TUBA4B / tubulin alpha 4bENSG0000024391039


Protein motifs (from Interpro)
Interpro ID Name
 IPR000217  Tubulin
 IPR002452  Alpha tubulin
 IPR003008  Tubulin/FtsZ, GTPase domain
 IPR008280  Tubulin/FtsZ, C-terminal
 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:0002576 platelet degranulation TAS
 biological_processGO:0007010 cytoskeleton organization IEA
 biological_processGO:0007017 microtubule-based process IEA
 biological_processGO:0010389 regulation of G2/M transition of mitotic cell cycle TAS
 biological_processGO:0097711 ciliary basal body-plasma membrane docking TAS
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005856 cytoskeleton IDA
 cellular_componentGO:0005874 microtubule IEA
 cellular_componentGO:0015630 microtubule cytoskeleton IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003924 GTPase activity IEA
 molecular_functionGO:0005200 structural constituent of cytoskeleton IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005525 GTP binding IEA
 molecular_functionGO:0019899 enzyme binding IEA
 molecular_functionGO:0019901 protein kinase binding IPI


Pathways (from Reactome)
Pathway description
Platelet degranulation
Translocation of SLC2A4 (GLUT4) to the plasma membrane
Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane
Gap junction assembly
MHC class II antigen presentation
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
Regulation of PLK1 Activity at G2/M Transition
HSP90 chaperone cycle for steroid hormone receptors (SHR)
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
Prefoldin mediated transfer of substrate to CCT/TriC
Formation of tubulin folding intermediates by CCT/TriC
Post-chaperonin tubulin folding pathway
Recycling pathway of L1
Hedgehog off state
Cilium Assembly
Anchoring of the basal body to the plasma membrane
Intraflagellar transport
RHO GTPases activate IQGAPs
RHO GTPases Activate Formins
COPI-mediated anterograde transport
COPI-dependent Golgi-to-ER retrograde traffic
COPI-independent Golgi-to-ER retrograde traffic
Mitotic Prometaphase
The role of GTSE1 in G2/M progression after G2 checkpoint
AURKA Activation by TPX2
Carboxyterminal post-translational modifications of tubulin
Kinesins


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]
Show

 HP:0002145 Frontotemporal dementia 
Show

  


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






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr