CEP135 - centrosomal protein 135 Gene

中文名称：中心体蛋白 135

种属: Homo sapiens

同用名: CEP4; MCPH8; KIAA0635

基因 ID: 9662 | 基因类型: protein coding

关于 CEP135

Cytogenetic location: 4q12 Genomic coordinates (GRCh38): 4:55,948,945-56,033,361 (from NCBI)

This gene has 5 transcripts (splice variants), 139 orthologues, 4 paralogues and is associated with 3 phenotypes. Broad expression in lymph node (RPKM 5.5), endometrium (RPKM 4.6) and 24 other tissues.

功能概要

该基因编码一种中心体蛋白，它在早期中心粒生物发生过程中充当支架蛋白，也是间期中心粒-中心粒凝聚所必需的。该基因的突变与常染色体隐性原发性小头畸形 8 有关。[RefSeq 提供，2012 年 6 月]

This gene encodes a centrosomal protein, which acts as a scaffolding protein during early centriole biogenesis, and is also required for centriole-centriole cohesion during interphase. Mutations in this gene are associated with autosomal recessive primary microcephaly-8. [provided by RefSeq, Jun 2012]

CEP135 基因产物(1)

mRNA	Protein	Name
NM_025009.5	NP_079285.2	centrosomal protein of 135 kDa

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables identical protein binding	IDA IDA: 通过直接分析推断	27477386	GOA
enables microtubule binding	IDA IDA: 通过直接分析推断	27477386	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	18851962	GOA
enables protein homodimerization activity	IDA IDA: 通过直接分析推断	27477386	GOA
enables tubulin binding	IDA IDA: 通过直接分析推断	27477386	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in centriole replication	IMP IMP: 通过突变表型推断	17681131	GOA
involved in centriole-centriole cohesion	IMP IMP: 通过突变表型推断	18851962	GOA
involved in positive regulation of establishment of protein localization	IMP IMP: 通过突变表型推断	27185865	GOA
involved in positive regulation of non-motile cilium assembly	IMP IMP: 通过突变表型推断	26545777	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in centriole	IDA IDA: 通过直接分析推断	17681131	GOA
located in centrosome	IDA IDA: 通过直接分析推断	21399614	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

蛋白主名

其他名称

centrosomal protein of 135 kDa

centrosomal protein 135kDa

CEP135 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	CEP135	Q66GS9	CEP162	Homo sapiens	Q5TB80	BioID	26638075
Intra	CEP135	Q66GS9	PIBF1	Homo sapiens	A0A087WUI6	BFG-2H	27107012
Intra	CEP135	Q66GS9	PIBF1	Homo sapiens	A0A087WUI6	Y2H	27107012
Intra	CEP135	Q66GS9	NUFIP2	Homo sapiens	Q7Z417	Anti Bait CoIP	35709258
Intra	CEP135	Q66GS9	SASS6	Homo sapiens	Q6UVJ0	Anti Tag CoIP	23511974
Intra	CEP135	Q66GS9	SASS6	Homo sapiens	Q6UVJ0	Pull Down	23511974
Intra	CEP135	Q66GS9	SASS6	Homo sapiens	Q6UVJ0	Anti Bait CoIP	23511974
Intra	CEP135	Q66GS9	CEP152	Homo sapiens	O94986-3	Anti Tag CoIP	24997597
Intra	CEP135	Q66GS9	SPICE1	Homo sapiens	Q8N0Z3	BioID	26638075
Intra	CEP135	Q66GS9	SPICE1	Homo sapiens	Q8N0Z3	Anti Tag CoIP	26638075
Intra	CEP135	Q66GS9	AGO1	Homo sapiens	Q9UL18	Anti Bait CoIP	35709258
Intra	CEP135	Q66GS9	RC3H1	Homo sapiens	Q5TC82	Confocal	35709258
Intra	CEP135	Q66GS9	RC3H1	Homo sapiens	Q5TC82	Anti Bait CoIP	35709258
Intra	CEP135	Q66GS9	NDEL1	Homo sapiens	Q9GZM8	BioID	26638075
Intra	CEP135	Q66GS9	CENPJ	Homo sapiens	Q9HC77	Anti Bait CoIP	23511974
Intra	CEP135	Q66GS9	CENPJ	Homo sapiens	Q9HC77	Pull Down	23511974
Intra	CEP135	Q66GS9	CENPJ	Homo sapiens	Q9HC77	IF	20531387

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 8, Primary, Autosomal Recessive

MCPH8

Primary Autosomal Recessive Microcephaly 8

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

Microcephaly 12, Primary, Autosomal Recessive

MCPH12	Primary Autosomal Recessive Microcephaly 12
Microcephaly, Type 12, Primary, Autosomal Recessive

Microcephaly 10, Primary, Autosomal Recessive

MCPH10	Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Primary Autosomal Recessive Microcephaly 10	Microcephalic Primordial Dwarfism, Walsh Type
Microcephaly, Type 10, Primary, Autosomal Recessive

Microcephaly 16, Primary, Autosomal Recessive

MCPH16

Primary Autosomal Recessive Microcephaly 16

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities

Microcephaly 15, Primary, Autosomal Recessive	NEDMISBA
Mcph15	Primary Autosomal Recessive Microcephaly 15
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Abnormalities

Female-Restricted Syndromic X-Linked Intellectual Disability 99

X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Intellectual Disability, X-Linked 99, Syndromic, Female-Restricted
Female-Restricted Syndromic X-Linked Mental Retardation 99	Mrxs99f
X-Linked Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability Syndrome Limited To Females

Microcephaly 9, Primary, Autosomal Recessive

MCPH9	Primary Autosomal Recessive Microcephaly 9
Microcephaly, Type 9, Primary, Autosomal Recessive

Microcephaly 11, Primary, Autosomal Recessive

MCPH11	Primary Autosomal Recessive Microcephaly 11
Microcephaly, Type 11, Primary, Autosomal Recessive

Microcephaly 3, Primary, Autosomal Recessive

MCPH3	Primary Autosomal Recessive Microcephaly 3
Microcephaly, Primary Autosomal Recessive, 3

Microcephaly 14, Primary, Autosomal Recessive

MCPH14	Primary Autosomal Recessive Microcephaly 14
Microcephaly, Type 14, Primary, Autosomal Recessive

Microcephaly 5, Primary, Autosomal Recessive

MCPH5	Primary Autosomal Recessive Microcephaly 5
Microcephaly Primary Autosomal Recessive 5 With Simplified Gyral Pattern	Microcephaly, Primary Autosomal Recessive, 5

Microcephaly 13, Primary, Autosomal Recessive

MCPH13	Primary Autosomal Recessive Microcephaly 13
Microcephaly, Type 13, Primary, Autosomal Recessive

Microcephaly 19, Primary, Autosomal Recessive

MCPH19	Primary Autosomal Recessive Microcephaly 19
Microcephaly, Type 19, Primary, Autosomal Recessive

Microcephaly 18, Primary, Autosomal Dominant

MCPH18

Primary Autosomal Dominant Microcephaly 18

Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii

Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Majewski Osteodysplastic Primordial Dwarfism Type Ii
MOPD2	Mopd Ii
Osteodysplastic Primordial Dwarfism Type Ii	Mopdii
Osteodysplastic Primordial Dwarfism Type 2	Osteodysplastic Primordial Dwarfism, Type Ii
Pcnt-Related Microcephalic Osteodysplastic Primordial Dwarfism	Microcephalic Osteodysplastic Primordial Dwarfism Type 2
Mopd 2	Microcephalic Osteodysplastic Primordial Dwarfism With Tooth Abnormalities
Mopd Type Ii	Microcephalic Osteodysplastic Primordial Dwarfism 2
Dwarfism, Primordial, Osteodysplastic, Microcephalic Type Ii

Male Infertility Due To Acephalic Spermatozoa

Acephalic Spermatozoa Syndrome

Seckel Syndrome

Microcephalic Primordial Dwarfism	Bird-Headed Dwarfism
Harper'S Syndrome	Virchow-Seckel Dwarfism
Nanocephalic Dwarfism	Sckl
Seckel-Type Dwarfism

Isolated Growth Hormone Deficiency, Type Ia

Ighd Ia	Primordial Dwarfism
Isolated Growth Hormone Deficiency Type Ia	Sexual Ateleiotic Dwarfism
Pituitary Dwarfism I	IGHD1A
Illig-Type Growth Hormone Deficiency	Growth Hormone Deficiency, Isolated, Type Ia
Congenital Ighd Type Ia	Congenital Isolated Gh Deficiency Type Ia
Congenital Isolated Growth Hormone Deficiency Type Ia	Pituitary Dwarfism 1
Growth Hormone Deficiency, Isolated, Autosomal Recessive	Autosomal Recessive Isolated Growth Hormone Deficiency
Isolated Growth Hormone Deficiency Type 1a	Congenital Ighd
Congenital Isolated Gh Deficiency	Congenital Isolated Growth Hormone Deficiency
Growth Hormone Deficiency, Isolated Autosomal Recessive	Illig Type Growth Hormone Deficiency
Non-Acquired Isolated Growth Hormone Deficiency	Growth Hormone Deficiency, Isolated, 1a
Growth Hormone Deficiency Isolated Autosomal Recessive	Dwarfism, Primordial
Dwarfism

Spermatogenic Failure

Azoospermia	Spgf
Spermatogenic Failure, Susceptibility To	Absent Sperm
Aspermatogenesis	Infertility Due To Azoospermia
Hypospermatogenesis	Azoospermatism

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

Primary Ciliary Dyskinesia

Immotile Cilia Syndrome	Kartagener Syndrome
Dextrocardia Bronchiectasis And Sinusitis	Pcd
Ciliary Motility Disorders	Ciliary Motility Disorder
Immotile Ciliary Syndrome	Ciliary Dyskinesia Primary
Ics	Polynesian Bronchiectasis
Dextrocardia-Bronchiectasis-Sinusitis Syndrome	Immotile Cilia Syndrome, Kartagener Type
Primary Ciliary Dyskinesia And Situs Inversus	Primary Ciliary Dyskinesia, Kartagener Type
Siewert Syndrome	Dyskinesia, Ciliary, Primary

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-RS02501	CEP135 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	CEP135	VGNC	VGNC:60768
Macaca mulatta	CEP135	VGNC	VGNC:71128
Mus musculus	CEP135	MGD	MGI:2681869
Canis familiaris	CEP135	VGNC	VGNC:39118
Rattus norvegicus	CEP135	RGD	RGD:1310726
Bos taurus	CEP135	VGNC	VGNC:27193

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