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  2. CETN3 - centrin 3 Gene

CETN3 - centrin 3 Gene

中文名称:中心素 3

种属: Homo sapiens

同用名: CEN3; CDC31

基因 ID: 1070 | 基因类型: protein coding

关于 CETN3

Cytogenetic location: 5q14.3 Genomic coordinates (GRCh38): 5:90,392,257-90,409,756 (from NCBI)

This gene has 6 transcripts (splice variants), 202 orthologues and 20 paralogues. Broad expression in testis (RPKM 62.8), adrenal (RPKM 10.5) and 21 other tissues.

功能概要

该基因编码的蛋白质包含四个 EF-hand 钙结合结构域,是中心蛋白家族的一员。 Centrins 是进化上保守的蛋白质,类似于酿酒酵母的 CDC31 蛋白质。酵母 CDC31 位于间期和有丝分裂细胞的中心体,在中心体复制和分离中起着重要作用。已在人类和其他哺乳动物细胞中鉴定出多种形式的类似于酵母中心蛋白的蛋白质,其中一些已被证明与中心体部分有关。这种蛋白质似乎是与中心体相关的最丰富的中心蛋白之一,这表明其功能与其酵母对应物相似。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2014 年 7 月]

The protein encoded by this gene contains four EF-hand calcium binding domains, and is a member of the centrin protein family. Centrins are evolutionarily conserved proteins similar to the CDC31 protein of S. cerevisiae. Yeast CDC31 is located at the centrosome of interphase and mitotic cells, where it plays a fundamental role in centrosome duplication and separation. Multiple forms of the proteins similar to the yeast centrin have been identified in human and other mammalian cells, some of which have been shown to be associated with centrosome fractions. This protein appears to be one of the most abundant centrins associated with centrosome, which suggests a similar function to its yeast counterpart. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

CETN3 基因产物(3)

mRNA Protein Name
NM_001297765.2 NP_001284694.1 centrin-3 isoform 1
NM_001297768.2 NP_001284697.1 centrin-3 isoform 3
NM_004365.4 NP_004356.2 centrin-3 isoform 2

CETN3 蛋白结构

EF-hand_7

EF-hand_7: EF-hand domain pair (30 - 88)

EF-hand_7

EF-hand_7: EF-hand domain pair (103 - 163)

  • 0
  • 100
  • 167 a.a.
蛋白主名 其他名称

centrin-3

CDC31 yeast homolog

关联疾病

疾病名称 别名
Retinitis Pigmentosa 28

RP28

Retinitis Pigmentosa, Type 28

Cranioectodermal Dysplasia 4

CED4

Sensenbrenner Syndrome 4

Dysplasia, Cranioectodermal, Type 4

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

Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

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

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

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

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta CETN3 VGNC VGNC:71016
Rattus norvegicus CETN3 RGD RGD:620249
Bos taurus CETN3 VGNC VGNC:27235
Felis catus CETN3 VGNC VGNC:60801
Mus musculus CETN3 MGD MGI:1097706
Canis familiaris CETN3 VGNC VGNC:39156