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

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
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
Lissencephaly	Likely pathogenic	rs770355511	RCV001291310

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Ovarian serous cystadenocarcinoma	Benign	rs200371447	RCV005920720
Sarcoma	Benign	rs200371447	RCV005920719
Squamous cell carcinoma of the head and neck	Uncertain significance	rs2510736238	RCV005939296
TUBG1-related disorder	Likely benign; Benign	rs2052022966, rs1297694217, rs1555631018, rs1195737558, rs144903375, rs147870857, rs150641791	RCV003894029 RCV003901732 RCV003962124 RCV003956928 RCV003902603 RCV004757264 RCV003968400

Show/Hide Text Mining Associations (20)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Breast Neoplasms	Associate	20508983, 25830658
Carcinogenesis	Associate	36523478
Carcinoma Hepatocellular	Stimulate	36523478
Cognition Disorders	Associate	29706637
Coronary Artery Disease	Associate	33725943
Developmental Disabilities	Associate	31151415, 33728335
Epilepsy	Associate	31151415, 33728335
Gallbladder Neoplasms	Associate	37480569
Growth Retardation Developmental Delay Coarse Facies And Early Death	Associate	33728335
Hereditary Breast and Ovarian Cancer Syndrome	Associate	25830658
Intellectual Disability	Associate	31151415, 33728335
Lissencephaly	Associate	29706637
Malformations of Cortical Development	Associate	33728335
Microcephaly	Associate	29706637, 31151415
Motor Disorders	Associate	31151415
Multiple Myeloma	Associate	23522059
Muscle Hypertonia	Associate	31151415
Neoplasms	Associate	34158617
Otitis Externa	Associate	33728335
Seizures	Associate	29706637

TUBG1 (tubulin gamma 1)