TUBGCP4 - tubulin gamma complex associated protein 4 Gene

中文名称：微管蛋白γ复合体相关蛋白 4

种属: Homo sapiens

同用名: 76P; GCP4; GCP-4; Grip76; MCCRP3

基因 ID: 27229 | 基因类型: protein coding

关于 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.

功能概要

该基因编码微管成核所需的γ-微管蛋白环状复合物的一个成分。在哺乳动物细胞中，该蛋白质定位于与γ-微管蛋白相关的中心体。晶体结构分析揭示了一种由五个螺旋束组成的结构，这些螺旋束排列在保守的疏水核心周围。位于 C 末端结构域的暴露表面积对于直接结合 γ-微管蛋白是必不可少的。这种改变微管组织的基因突变与小头畸形和脉络膜视网膜病变有关。可变剪接导致多个转录本变体。[RefSeq 提供，2015 年 5 月]

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 基因产物(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

基因本体论

分子功能
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	19060904	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in centrosome	IDA IDA: 通过直接分析推断	21399614	GOA
located in recycling endosome	IDA IDA: 通过直接分析推断	24561039	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

TUBGCP4 蛋白结构

Spc97_Spc98

0
200
400
600
667 a.a.

蛋白主名

其他名称

gamma-tubulin complex component 4

gamma tubulin ring complex protein (76p gene)

TUBGCP4 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
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

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS15264	TUBGCP4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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

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