TUBGCP4 - tubulin gamma complex associated protein 4 Gene

Also Known as 76P; GCP4; GCP-4; Grip76; MCCRP3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 27229

About TUBGCP4

Cytogenetic location: 15q15.3 Genomic coordinates (GRCh38): 15:43,371,101-43,409,771 (from NCBI)

This gene has 12 transcripts (splice variants), 205 orthologues, 4 paralogues and is associated with 4 phenotypes. Ubiquitous expression in brain (RPKM 7.5), thyroid (RPKM 5.7) and 25 other tissues.

Summary

This gene encodes a component of the gamma-tubulin ring complex, which is required for microtubule nucleation. In mammalian cells, the protein localizes to centrosomes in association with gamma-tubulin. Crystal structure analysis revealed a structure composed of five helical bundles arranged around conserved hydrophobic cores. An exposed surface area located in the C-terminal domain is essential and sufficient for direct binding to gamma-tubulin. Mutations in this gene that alter microtubule organization are associated with microcephaly and chorioretinopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015]

TUBGCP4 Products (2)

mRNA Protein Name
NM_001286414.3 NP_001273343.1 gamma-tubulin complex component 4 isoform a
NM_014444.5 NP_055259.2 gamma-tubulin complex component 4 isoform b
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
19060904 GOA
Cellular Component GO Annotation Evidence References Source
located in centrosome IDA
IDA: Inferred from direct assay
21399614 GOA
located in recycling endosome IDA
IDA: Inferred from direct assay
24561039 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

TUBGCP4 Protein Structure

Spc97_Spc98

Spc97_Spc98: Spc97 / Spc98 family (4 - 573)

  • 0
  • 200
  • 400
  • 600
  • 667 a.a.
Protein Preferred Names Protein Names

gamma-tubulin complex component 4

  • gamma tubulin ring complex protein (76p gene)

TUBGCP4 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
TUBGCP4 Q9UGJ1 LZTR1 Homo sapiens Q8N653 29892012
Intra
TUBGCP4 Q9UGJ1 LZTR1 Homo sapiens Q8N653 19060904
Intra
TUBGCP4 Q9UGJ1 LZTR1 Homo sapiens Q8N653 19060904
Intra
TUBGCP4 Q9UGJ1 RNF146 Homo sapiens Q9NTX7 25416956
Intra
TUBGCP4 Q9UGJ1 GLYCTK Homo sapiens Q8IVS8 25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
  • MCCRP3

  • Microcephaly And Chorioretinopathy, Autosomal Recessive, Type 3

Microcephaly And Chorioretinopathy 3
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
  • Autosomal Recessive Chorioretinopathy-Microcephaly-Intellectual Disability Syndrome

Microcephaly Chorioretinopathy Recessive Form
Microcephaly
  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly

Microcephaly, Autosomal Dominant
  • Autosomal Dominant Microcephaly

  • Microcephaly Autosomal Dominant

  • Autosomal Dominant Primary Microcephaly

  • Microcephaly With Autosomal Dominant Inheritance

Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
  • Lymphedema, Microcephaly And Chorioretinopathy Syndrome

  • Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Intellectual Disability

  • MCLMR

  • Microcephaly, Lymphedema, Chorioretinal Dysplasia Syndrome

  • Mlcrd Syndrome

  • Cdmmr Syndrome

  • Lymphedema And Retinal Folds With Microcephaly And Microphthalmos

  • Chorioretinal Dysplasia-Microcephaly-Mental Retardation Syndrome

  • Microcephaly Lymphedema Chorioretinal Dysplasia

  • Microcephaly And Chorioretinopathy With Or Without Mental Retardation, Autosomal Dominant

  • Lymphedema, Microcephaly, Chorioretinopathy Syndrome

  • Lymphedema And Retinal Folds With Ficrocephaly And Microphthalmos

  • Chorioretinal Dysplasia-Microcephaly-Intellectual Disability Syndrome

  • Microcephaly-Lymphedema-Chorioretinopathy Syndrome

  • Mlcrd

  • Lymphedema Microcephaly Chorioretinopathy Syndrome

  • Microcephaly Lymphedema Chorioretinal Dysplasia Syndrome

  • Microcephaly With Or Without Chorioretinopathy, Lymphedema Or Intellectual Disability

  • Microcephaly With/Without Chorioretinopathy, Lymphedema, Or Mental Retardation

Microphthalmia
  • Microphthalmos

  • Isolated Anophthalmia-Microphthalmia Syndrome

  • Isolated Microphthalmia-Anophthalmia-Coloboma

  • Simple Microphthalmos

  • Clinical Anophthalmia

  • Isolated Anophthalmia - Microphthalmia

  • Isolated Pure Microphthalmia

  • Mac Spectrum

  • Microphthalmia-Anophthalmia-Coloboma Spectrum

  • Primitive Anophthalmia

  • Globe Of Eye Small

  • Small Eyeball

  • Hypoplasia Of Eye

  • Isolated Nanophthalmos

  • Rudimentary Eye

  • Dysplasia Of Eye

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

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
Rattus norvegicus TUBGCP4 RGD RGD:1306924
Mus musculus TUBGCP4 MGD MGI:1196293
Felis catus TUBGCP4 VGNC VGNC:66706
Macaca mulatta TUBGCP4 VGNC VGNC:79045
Bos taurus TUBGCP4 VGNC VGNC:36514
Canis familiaris TUBGCP4 VGNC VGNC:47994
Others TUBGCP4 NCBI