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TUBGCP6 - tubulin gamma complex associated protein 6 Gene

Also Known as GCP6; GCP-6; MCCRP; MCCRP1; MCPHCR

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 85378

About TUBGCP6

Cytogenetic location: 22q13.33 Genomic coordinates (GRCh38): 22:50,217,694-50,245,023 (from NCBI)

This gene has 8 transcripts (splice variants), 192 orthologues, 4 paralogues and is associated with 4 phenotypes. Ubiquitous expression in spleen (RPKM 17.1), lymph node (RPKM 14.4) and 25 other tissues.

Summary

The protein encoded by this gene is part of a large multisubunit complex required for microtubule nucleation at the centrosome. [provided by RefSeq, Jul 2008]

TUBGCP6 Products (1)

mRNA	Protein	Name
NM_020461.4	NP_065194.3	gamma-tubulin complex component 6

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables microtubule binding	IDA IDA: Inferred from direct assay	11694571	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in microtubule nucleation	IDA IDA: Inferred from direct assay	11694571	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in centrosome	IDA IDA: Inferred from direct assay	21399614	GOA
part of gamma-tubulin ring complex	IDA IDA: Inferred from direct assay	11694571	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TUBGCP6 Protein Structure

Spc97_Spc98

0
300
600
900
1200
1500
1819 a.a.

Protein Preferred Names	Protein Names
gamma-tubulin complex component 6

Related Diseases

Diseases	Alias
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	MCCRP1 Microcephaly And Chorioretinopathy, Autosomal Recessive, Type 1 Chorioretinal Dysplasia-Microcephaly-Mental Retardation Syndrome Lymphedema, Microcephaly And Chorioretinopathy Syndrome
Microcephaly And Chorioretinopathy 1
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Autosomal Recessive Chorioretinopathy-Microcephaly-Intellectual Disability Syndrome
Mitochondrial Complex I Deficiency, Nuclear Type 33	MC1DN33 Nuclear Type Mitochondrial Complex I Deficiency 33 Mitochondrial Complex 1 Deficiency, Nuclear Type 33
Astereognosia	Somatosensory Agnosia Tactile Agnosia
Liver Failure, Infantile, Transient	Acute Infantile Liver Failure Due To Synthesis Defect Of Mtdna-Encoded Proteins Transient Infantile Liver Failure LFIT Acute Infantile Liver Failure Acute Infantile Liver Failure Due To Synthesis Defect Of Mitochondrial Dna-Encoded Proteins Liver Failure, Transient Infantile Acute Infantile Liver Failure Due To Mtdna-Encoded Proteins Synthesis Defect Liver Failure, Acute Infantile Failure, Liver, Transient, Infantile
Microcephaly, Autosomal Dominant	Autosomal Dominant Microcephaly Microcephaly Autosomal Dominant Autosomal Dominant Primary Microcephaly Microcephaly With Autosomal Dominant Inheritance
Schindler Disease	Alpha-N-Acetylgalactosaminidase Deficiency Naga Deficiency Alpha-Galactosidase B Deficiency Alpha-Galnac Deficiency, Schindler Type Alpha-Naga Deficiency Angiokeratoma Corporis Diffusum-Glycopeptiduria Galb Deficiency Kanzaki Disease Lysosomal Glycoaminoacid Storage Disease-Angiokeratoma Corporis Diffusum Neuroaxonal Dystrophy, Schindler Type Neuronal Axonal Dystrophy, Schindler Type Schindler Disease, Type I Schindler Disease, Type Ii
Chromosome 17q12 Deletion Syndrome	17q12 Microdeletion Syndrome Del(17)(Q12) Monosomy 17q12
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Leukodystrophy, Hypomyelinating, 6	Habc Hypomyelinating Leukodystrophy 6 HLD6 H-Abc Hypomyelination With Atrophy Of Basal Ganglia And Cerebellum Leukodystrophy, Hypomyelinating, With Atrophy Of The Basal Ganglia And Cerebellum Hypomyelinating Leukodystrophy With Atrophy Of The Basal Ganglia And Cerebellum HLD Leukodystrophy, Hypomyelinating, Type 6
Mosaic Variegated Aneuploidy Syndrome	Warburton-Anyane-Yeboa Syndrome Mva Syndrome Mosaic Variegated Aneuplody Microcephaly Syndrome Warburton Anyane Yeboa Syndrome
Charcot-Marie-Tooth Disease, Type 4b3	Charcot-Marie-Tooth Disease Type 4b3 CMT4B3 Charcot-Marie-Tooth Disease With Focally Folded Myelin Charcot-Marie-Tooth Disease 4b3 Charcot-Marie-Tooth Neuropathy Type 4b3
Exudative Vitreoretinopathy	Familial Exudative Vitreoretinopathy Fevr Criswick-Schepens Syndrome Exudative Vitreoretinopathy, Familial Vitreoretinopathy, Exudative ) Exudative Vitreoretinopathy 1
Primary Autosomal Recessive Microcephaly	Autosomal Recessive Primary Microcephaly Mcph True Microcephaly Microcephalia Vera Microcephaly Vera Microcephaly Primary Hereditary Microcephaly, Primary, Autosomal Recessive Primary Microcephaly
Primary Microcephaly	True Microcephaly Microcephaly, Primary
Seckel Syndrome	Microcephalic Primordial Dwarfism Bird-Headed Dwarfism Harper'S Syndrome Virchow-Seckel Dwarfism Nanocephalic Dwarfism Sckl Seckel-Type Dwarfism
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15266	TUBGCP6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	TUBGCP6	VGNC	VGNC:82341
Rattus norvegicus	TUBGCP6	RGD	RGD:1307743
Bos taurus	TUBGCP6	VGNC	VGNC:36516
Macaca mulatta	TUBGCP6	VGNC	VGNC:98465
Mus musculus	TUBGCP6	MGD	MGI:2146071
Canis familiaris	TUBGCP6	VGNC	VGNC:47996
Others	TUBGCP6	NCBI