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TUBG1 (tubulin gamma 1)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7283
Gene nameGene Name - the full gene name approved by the HGNC.
Tubulin gamma 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
TUBG1
SynonymsGene synonyms aliases
CDCBM4, GCP-1, TUBG, TUBGCP1
ChromosomeChromosome number
17
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.2
SummarySummary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the tubulin superfamily. The encoded protein localizes to the centrosome where it binds to microtubules as part of a complex referred to as the gamma-tubulin ring complex. The protein mediates microtubule nucleation and is re
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs398123045 T>C Pathogenic Coding sequence variant, missense variant
rs398123047 A>C Pathogenic Coding sequence variant, missense variant
rs1057518249 C>T Likely-pathogenic Coding sequence variant, missense variant
rs1555631467 G>A Likely-pathogenic Coding sequence variant, missense variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT050164 hsa-miR-26a-5p CLASH 23622248
MIRT048681 hsa-miR-99a-5p CLASH 23622248
MIRT047028 hsa-miR-187-3p CLASH 23622248
MIRT043581 hsa-miR-148b-3p CLASH 23622248
MIRT042839 hsa-miR-324-3p CLASH 23622248
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0000070 Process Mitotic sister chromatid segregation IBA 21873635
GO:0000086 Process G2/M transition of mitotic cell cycle TAS
GO:0000212 Process Meiotic spindle organization IBA 21873635
GO:0000212 Process Meiotic spindle organization ISS
GO:0000226 Process Microtubule cytoskeleton organization IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P23258
Protein name Tubulin gamma-1 chain (Gamma-1-tubulin) (Gamma-tubulin complex component 1) (GCP-1)
Protein function Tubulin is the major constituent of microtubules, protein filaments consisting of alpha- and beta-tubulin heterodimers (PubMed:38305685, PubMed:38609661, PubMed:39321809). Gamma-tubulin is a key component of the gamma-tubulin ring complex (gTuRC
PDB 1Z5V , 1Z5W , 3CB2 , 6V5V , 6V6S , 7AS4 , 7QJ0 , 7QJ1 , 7QJ2 , 7QJ3 , 7QJ4 , 7QJ5 , 7QJ6 , 7QJ7 , 7QJ8 , 7QJ9 , 7QJA , 7QJB , 7QJC , 7QJD , 7QJE , 8Q62 , 8RX1 , 8VA2 , 8VRD , 8VRJ , 8VRK , 9H9P
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00091 Tubulin
4 → 215
Tubulin/FtsZ family, GTPase domain
 Domain
PF03953 Tubulin_C
264 → 393
Tubulin C-terminal domain
 Domain
Sequence
Sequence length 451
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
Reactome
  Motor proteins
Human papillomavirus infection 		  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
AURKA Activation by TPX2
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Cortical dysplasia with other brain malformations CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4 rs137853194, rs137853195, rs137853196, rs267607164, rs267607165, rs878853256, rs878853257, rs878853258, rs397514567, rs397514569, rs398123045, rs398123046, rs398123047, rs587777033, rs587777034, rs587777035, rs398122369, rs886037663, rs587777355, rs587777356, rs587777357, rs587777570, rs587784498, rs587784502, rs587784505, rs797046074, rs864321717, rs878853162, rs878853279, rs878853284, rs886039447, rs747480526, rs886041459, rs1057518249, rs1057517908, rs1057521924, rs1064795249, rs1064795334, rs1131691895, rs1135401758, rs1554042050, rs1554126886, rs1554126925, rs1554122959, rs1553463778, rs1561273261, rs760139097, rs1413537928, rs778294237, rs1581525728, rs1472207337, rs1599166793, rs1599137041, rs1599155642, rs1580059038, rs1581496351, rs1581526962, rs1581525683, rs1581668624, rs201922441 29706637, 29671837, 23603762
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Microcephaly Microcephaly rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357 23603762
Microlissencephaly Microlissencephaly rs771116788 23603762
Unknown
Disease name Disease term dbSNP ID References
Agyria Agyria
Congenital microcephaly Severe Congenital Microcephaly 23603762
Cortical dysplasia Cortical Dysplasia 23603762
Malformation of cortical development Malformations of Cortical Development 23603762

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