2. Gene
  3. TUBGCP4 - tubulin gamma complex associated protein 4 Gene

TUBGCP4 - tubulin gamma complex associated protein 4 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

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

Gene ID: 27229 | Gene type: protein coding

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
Gene Ontology
  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
19060904 GOA
Cellular Component GO Annotation Evidence Reference 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 Reference
Intra
TUBGCP4 Q9UGJ1 LZTR1 Homo sapiens Q8N653
Y2H Array
29892012
Intra
TUBGCP4 Q9UGJ1 LZTR1 Homo sapiens Q8N653
Y2H Pooling
19060904
Intra
TUBGCP4 Q9UGJ1 LZTR1 Homo sapiens Q8N653
Y2H Array
19060904
Intra
TUBGCP4 Q9UGJ1 RNF146 Homo sapiens Q9NTX7
Validated Y2H
25416956
Intra
TUBGCP4 Q9UGJ1 GLYCTK Homo sapiens Q8IVS8
Y2H Array
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

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS15264 TUBGCP4 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

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