1. Gene
  2. TUBGCP6 - tubulin gamma complex associated protein 6 Gene

TUBGCP6 - tubulin gamma complex associated protein 6 Gene

Homo sapiens

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

Gene ID: 85378 | Gene type: protein coding

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 Reference Source
enables microtubule binding IDA
IDA: Inferred from direct assay
11694571 GOA
Biological Process GO Annotation Evidence Reference Source
involved in microtubule nucleation IDA
IDA: Inferred from direct assay
11694571 GOA
Cellular Component GO Annotation Evidence Reference 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

Spc97_Spc98: Spc97 / Spc98 family (355 - 1723)

  • 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

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