Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7283
Gene name	Tubulin gamma 1
Gene symbol	TUBG1
Synonyms (NCBI Gene)	CDCBM4GCP-1TUBGTUBGCP1
Chromosome	17
Chromosome location	17q21.2
Summary	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

Show/Hide all (4)

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

Show/Hide all (85)

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
MIRT036349	hsa-miR-1229-3p	CLASH	23622248
MIRT287253	hsa-miR-520f-3p	PAR-CLIP	20371350
MIRT520428	hsa-miR-302c-3p	PAR-CLIP	20371350
MIRT287256	hsa-miR-3121-3p	PAR-CLIP	20371350
MIRT287254	hsa-miR-577	PAR-CLIP	20371350
MIRT345061	hsa-miR-5586-5p	PAR-CLIP	20371350
MIRT345060	hsa-miR-1825	PAR-CLIP	20371350
MIRT520427	hsa-miR-199a-5p	PAR-CLIP	20371350
MIRT520426	hsa-miR-199b-5p	PAR-CLIP	20371350
MIRT520423	hsa-miR-4474-5p	PAR-CLIP	20371350
MIRT520422	hsa-miR-4477a	PAR-CLIP	20371350
MIRT287253	hsa-miR-520f-3p	PAR-CLIP	23446348
MIRT520428	hsa-miR-302c-3p	PAR-CLIP	23446348
MIRT287256	hsa-miR-3121-3p	PAR-CLIP	23446348
MIRT287254	hsa-miR-577	PAR-CLIP	23446348
MIRT345061	hsa-miR-5586-5p	PAR-CLIP	23446348
MIRT345060	hsa-miR-1825	PAR-CLIP	23446348
MIRT520427	hsa-miR-199a-5p	PAR-CLIP	23446348
MIRT520426	hsa-miR-199b-5p	PAR-CLIP	23446348
MIRT520425	hsa-miR-3164	PAR-CLIP	23446348
MIRT520424	hsa-miR-6820-3p	PAR-CLIP	23446348
MIRT520423	hsa-miR-4474-5p	PAR-CLIP	23446348
MIRT520422	hsa-miR-4477a	PAR-CLIP	23446348
MIRT345062	hsa-miR-6083	PAR-CLIP	23446348
MIRT287253	hsa-miR-520f-3p	PAR-CLIP	20371350
MIRT520428	hsa-miR-302c-3p	PAR-CLIP	20371350
MIRT287256	hsa-miR-3121-3p	PAR-CLIP	20371350
MIRT287254	hsa-miR-577	PAR-CLIP	20371350
MIRT345061	hsa-miR-5586-5p	PAR-CLIP	20371350
MIRT345060	hsa-miR-1825	PAR-CLIP	20371350
MIRT520427	hsa-miR-199a-5p	PAR-CLIP	20371350
MIRT520426	hsa-miR-199b-5p	PAR-CLIP	20371350
MIRT520423	hsa-miR-4474-5p	PAR-CLIP	20371350
MIRT520422	hsa-miR-4477a	PAR-CLIP	20371350
MIRT287253	hsa-miR-520f-3p	PAR-CLIP	23446348
MIRT520428	hsa-miR-302c-3p	PAR-CLIP	23446348
MIRT287256	hsa-miR-3121-3p	PAR-CLIP	23446348
MIRT287254	hsa-miR-577	PAR-CLIP	23446348
MIRT345061	hsa-miR-5586-5p	PAR-CLIP	23446348
MIRT345060	hsa-miR-1825	PAR-CLIP	23446348
MIRT520427	hsa-miR-199a-5p	PAR-CLIP	23446348
MIRT520426	hsa-miR-199b-5p	PAR-CLIP	23446348
MIRT520425	hsa-miR-3164	PAR-CLIP	23446348
MIRT520424	hsa-miR-6820-3p	PAR-CLIP	23446348
MIRT520423	hsa-miR-4474-5p	PAR-CLIP	23446348
MIRT520422	hsa-miR-4477a	PAR-CLIP	23446348
MIRT345062	hsa-miR-6083	PAR-CLIP	23446348
MIRT1463517	hsa-miR-1207-5p	CLIP-seq
MIRT1463518	hsa-miR-124	CLIP-seq
MIRT1463519	hsa-miR-1245b-3p	CLIP-seq
MIRT1463520	hsa-miR-1275	CLIP-seq
MIRT1463521	hsa-miR-1343	CLIP-seq
MIRT1463522	hsa-miR-1972	CLIP-seq
MIRT1463523	hsa-miR-3150b-3p	CLIP-seq
MIRT1463524	hsa-miR-3158-3p	CLIP-seq
MIRT1463525	hsa-miR-339-5p	CLIP-seq
MIRT1463526	hsa-miR-3714	CLIP-seq
MIRT1463527	hsa-miR-3910	CLIP-seq
MIRT1463528	hsa-miR-4269	CLIP-seq
MIRT1463529	hsa-miR-4434	CLIP-seq
MIRT1463530	hsa-miR-4514	CLIP-seq
MIRT1463531	hsa-miR-4516	CLIP-seq
MIRT1463532	hsa-miR-4525	CLIP-seq
MIRT1463533	hsa-miR-4640-5p	CLIP-seq
MIRT1463534	hsa-miR-4665-5p	CLIP-seq
MIRT1463535	hsa-miR-4692	CLIP-seq
MIRT1463536	hsa-miR-4704-3p	CLIP-seq
MIRT1463537	hsa-miR-4723-5p	CLIP-seq
MIRT1463538	hsa-miR-4726-5p	CLIP-seq
MIRT1463539	hsa-miR-4742-5p	CLIP-seq
MIRT1463540	hsa-miR-4763-3p	CLIP-seq
MIRT1463541	hsa-miR-4784	CLIP-seq
MIRT1463542	hsa-miR-506	CLIP-seq
MIRT1463543	hsa-miR-520f	CLIP-seq
MIRT1463544	hsa-miR-625	CLIP-seq
MIRT1463545	hsa-miR-635	CLIP-seq
MIRT1463546	hsa-miR-637	CLIP-seq
MIRT1463547	hsa-miR-940	CLIP-seq
MIRT1463522	hsa-miR-1972	CLIP-seq
MIRT2360089	hsa-miR-4716-5p	CLIP-seq

Show/Hide all (50)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000070	Process	Mitotic sister chromatid segregation	IBA
GO:0000166	Function	Nucleotide binding	IEA
GO:0000212	Process	Meiotic spindle organization	IBA
GO:0000212	Process	Meiotic spindle organization	IEA
GO:0000212	Process	Meiotic spindle organization	ISS
GO:0000226	Process	Microtubule cytoskeleton organization	TAS	1904010
GO:0000242	Component	Pericentriolar material	IEA
GO:0000278	Process	Mitotic cell cycle	IBA
GO:0000794	Component	Condensed nuclear chromosome	IEA
GO:0000794	Component	Condensed nuclear chromosome	ISS
GO:0000930	Component	Gamma-tubulin complex	IEA
GO:0000930	Component	Gamma-tubulin complex	TAS	9566969
GO:0000931	Component	Gamma-tubulin ring complex	IBA
GO:0005200	Function	Structural constituent of cytoskeleton	TAS	1904010
GO:0005515	Function	Protein binding	IPI	9566969, 14594945, 14676191, 17286961, 17959831, 19390532, 20360068, 21725292, 24107630, 26496610, 28514442, 29568061, 30723163, 33961781, 35849559
GO:0005525	Function	GTP binding	IBA
GO:0005525	Function	GTP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	9566969
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005813	Component	Centrosome	IBA
GO:0005813	Component	Centrosome	IDA	17286961, 18331714, 20873783, 21399614, 35849559
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IEA
GO:0005819	Component	Spindle	IBA
GO:0005819	Component	Spindle	IEA
GO:0005827	Component	Polar microtubule	IDA	9566969
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IEA
GO:0005876	Component	Spindle microtubule	IEA
GO:0005881	Component	Cytoplasmic microtubule	IEA
GO:0005929	Component	Cilium	IEA
GO:0007017	Process	Microtubule-based process	IEA
GO:0007020	Process	Microtubule nucleation	IBA
GO:0007020	Process	Microtubule nucleation	IEA
GO:0007052	Process	Mitotic spindle organization	IBA
GO:0015630	Component	Microtubule cytoskeleton	IEA
GO:0031122	Process	Cytoplasmic microtubule organization	IEA
GO:0031252	Component	Cell leading edge	IEA
GO:0036064	Component	Ciliary basal body	IEA
GO:0042802	Function	Identical protein binding	IPI	18388201, 29568061, 35271311
GO:0043005	Component	Neuron projection	IEA
GO:0045177	Component	Apical part of cell	IEA
GO:0055037	Component	Recycling endosome	IDA	24561039
GO:0097730	Component	Non-motile cilium	IEA
GO:0140490	Function	Microtubule nucleator activity	IBA
GO:1990498	Component	Mitotic spindle microtubule	IDA	30723163

MIM	HGNC	e!Ensembl
191135	12417	ENSG00000131462

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

MPREIITLQLGQCGNQIGFEFWKQLCAEHGISPEGIVEEFATEGTDRKDVFFYQADDEHY
IPRAVLLDLEPRVIHSILNSPYAKLYNPENIYLSEHGGGAGNNWASGFSQGEKIHEDIFD
IIDREADGSDSLEGFVLCHSIAGGTGSGLGSYLLERLNDRYPKKLVQTYSVFPNQDEMSD
VVVQPYNSLLTLKRLTQNADCVVVLDNTALNRIATDRLHIQNPSFSQINQLVSTIMSAST
TTLRYPGYMNNDLIGLIASLIPTPRLHFLMTGYTPLTTDQSVASVRKTTVLDVMRRLLQP
KNVMVSTGRDRQTNHCYIAILNIIQGEVDPTQVHKSLQRIRERKLANFIPWGPASIQVAL
SRKSPYLPSAHRVSGLMMANHTSISSLFERTCRQYDKLRKREAFLEQFRKEDMFKDNFDE
MDTSREIVQQLIDEYHAATRPDYISWGTQEQ

Sequence length

451

Interactions

View interactions

	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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Complex cortical dysplasia with other brain malformations 4	Likely pathogenic; Pathogenic	rs1803693, rs2510735739, rs2510734593, rs2510733383, rs1057518249, rs398123045, rs398123046, rs398123047	RCV002052172 RCV002280305 RCV003128097 RCV004556126 RCV004556057 RCV000055620 RCV000055621 RCV000055622 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lissencephaly	Likely pathogenic	rs770355511	RCV001291310	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
15Q11.2 MICRODELETION SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LISSENCEPHALY SPECTRUM DISORDERS	—	ClinGen, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALFORMATIONS OF CORTICAL DEVELOPMENT	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOSITIS, INCLUSION BODY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TUBG1-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (42)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Agyria	Agyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	20508983, 25830658		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20508983, 25830658	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	36523478	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36523478	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	29706637	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	30016746		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	33725943	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	CTD_human_DG	23603762		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4	Cortical Dysplasia With Other Brain Malformations	UNIPROT_DG	23603762		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4	Cortical Dysplasia With Other Brain Malformations	GENOMICS_ENGLAND_DG	29671837, 29706637		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4	Cortical Dysplasia With Other Brain Malformations	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4	Cortical Dysplasia With Other Brain Malformations	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	31151415, 33728335	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	31086189		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	31151415, 33728335	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	37480569	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Retardation Developmental Delay Coarse Facies And Early Death	Growth retardation, developmental delay, coarse facies, and early death	Pubtator	33728335	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	25830658	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	31086189		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	31151415, 33728335	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lissencephaly	Lissencephaly	BEFREE	24860126		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lissencephaly	Lissencephaly	Pubtator	29706637	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macular dystrophy, corneal type 1	Macular corneal dystrophy	BEFREE	23603762		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Malformation of cortical development	CTD_human_DG	23603762		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malformations of Cortical Development	Malformation of cortical development	BEFREE	24179174, 31086189		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malformations of Cortical Development	Cortical development malformation	Pubtator	33728335	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	20508983, 25830658		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	25830658		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	CTD_human_DG	23603762		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	BEFREE	29706637		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	Pubtator	29706637, 31151415	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microlissencephaly	Microlissencephaly	CTD_human_DG	23603762		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microlissencephaly	Microlissencephaly	BEFREE	24860126		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	23522059	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	BEFREE	29706637		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	29706637	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe Congenital Microcephaly	Congenital Microcephaly	CTD_human_DG	23603762		★★★★★ ★☆☆☆☆ Found in Text Mining only
Subcortical Band Heterotopia	Subcortical Band Heterotopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

TUBG1 (tubulin gamma 1)