2. Gene
  3. CEP19 - centrosomal protein 19 Gene

CEP19 - centrosomal protein 19 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：中心体蛋白 19

种属: Homo sapiens

同用名: MOSPGF; C3orf34

基因 ID: 84984 | 基因类型: protein coding

关于 CEP19

Cytogenetic location: 3q29 Genomic coordinates (GRCh38): 3:196,706,277-196,712,250 (from NCBI)

This gene has 2 transcripts (splice variants), 200 orthologues and is associated with 3 phenotypes. Broad expression in testis (RPKM 6.7), brain (RPKM 1.9) and 21 other tissues.

功能概要

由该基因编码的蛋白质定位于中心体和初级纤毛，并与母中心粒的标记共定位。该基因位于与病态肥胖有关的人类 3 号染色体区域。小鼠中直系同源基因的纯合敲除导致小鼠出现病态肥胖、食欲亢进、葡萄糖耐受不良和胰岛素抵抗。该基因的突变会导致病态肥胖和生精失败 (MOSPGF) 。该基因在人类 2 号染色体上有一个假基因。[RefSeq 提供，2014 年 4 月]

The protein encoded by this gene localizes to centrosomes and primary cilia and co-localizes with a marker for the mother centriole. This gene resides in a region of human chromosome 3 that is linked to morbid obesity. A homozygous knockout of the orthologous gene in mouse resulted in mice with morbid obesity, hyperphagy, glucose intolerance, and Insulin resistance. Mutations in this gene cause morbid obesity and spermatogenic failure (MOSPGF). This gene has a pseudogene on human chromosome 2. [provided by RefSeq, Apr 2014]

CEP19 基因产物(4)

mRNA Protein Name
NM_001379468.1 NP_001366397.1 centrosomal protein of 19 kDa isoform 2
NM_001379469.1 NP_001366398.1 centrosomal protein of 19 kDa isoform 1
NM_001379470.1 NP_001366399.1 centrosomal protein of 19 kDa isoform 1
NM_032898.5 NP_116287.3 centrosomal protein of 19 kDa isoform 1
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 protein binding IPI
IPI: 通过物理相互作用推断
16189514 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cilium assembly IMP
IMP: 通过突变表型推断
28428259 GOA
involved in microtubule anchoring at centrosome IMP
IMP: 通过突变表型推断
28659385 GOA
involved in vesicle targeting, trans-Golgi to periciliary membrane compartment IMP
IMP: 通过突变表型推断
28659385 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
21399614 GOA
located in ciliary basal body IDA
IDA: 通过直接分析推断
24268657 GOA
located in cilium IDA
IDA: 通过直接分析推断
28625565 GOA
located in spindle pole 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

CEP19 蛋白结构

CEP19

CEP19: CEP19-like protein (10 - 160)

  • 0
  • 100
  • 167 a.a.
蛋白主名 其他名称

centrosomal protein of 19 kDa

centrosomal protein 19kDa

CEP19 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 CEP19 Q96LK0 CCDC102B Homo sapiens Q68D86
Y2H Prey Pooling
32296183
Intra CEP19 Q96LK0 CCDC102B Homo sapiens Q68D86
Validated Y2H
25416956
Intra CEP19 Q96LK0 CCDC102B Homo sapiens Q68D86
Y2H Array
25416956
Intra CEP19 Q96LK0 CCDC102B Homo sapiens Q68D86
Y2H Array
32296183
Intra CEP19 Q96LK0 ZBTB14 Homo sapiens O43829
Validated Y2H
25416956
Intra CEP19 Q96LK0 ZBTB14 Homo sapiens O43829
Y2H Array
32296183
Intra CEP19 Q96LK0 ZBTB14 Homo sapiens O43829
Y2H Prey Pooling
25416956
Intra CEP19 Q96LK0 ZBTB14 Homo sapiens O43829
Y2H Prey Pooling
32296183
Intra CEP19 Q96LK0 KIAA1958 Homo sapiens Q8N8K9
Y2H Array
25416956
Intra CEP19 Q96LK0 C4orf19 Homo sapiens Q8IY42
Y2H Prey Pooling
32296183
Intra CEP19 Q96LK0 C4orf19 Homo sapiens Q8IY42
Y2H Array
32296183
Intra CEP19 Q96LK0 FOXR1 Homo sapiens Q6PIV2
Y2H Array
32296183
Intra CEP19 Q96LK0 FOXR1 Homo sapiens Q6PIV2
Y2H Prey Pooling
32296183
Intra CEP19 Q96LK0 PAPSS2 Homo sapiens O95340
Y2H Array
32296183
Intra CEP19 Q96LK0 PAPSS2 Homo sapiens O95340
Y2H Prey Pooling
32296183
Intra CEP19 Q96LK0 REL Homo sapiens Q04864-2
Y2H Array
32296183
Intra CEP19 Q96LK0 REL Homo sapiens Q04864-2
Y2H Prey Pooling
32296183
Intra CEP19 Q96LK0 TVP23B Homo sapiens Q9NYZ1
Y2H Array
32296183
Intra CEP19 Q96LK0 TVP23B Homo sapiens Q9NYZ1
Validated Y2H
32296183
Intra CEP19 Q96LK0 TVP23B Homo sapiens Q9NYZ1
Y2H Prey Pooling
32296183
Intra CEP19 Q96LK0 ZNF438 Homo sapiens Q7Z4V0
Y2H Prey Pooling
32296183
Intra CEP19 Q96LK0 ZNF438 Homo sapiens Q7Z4V0
Y2H Array
32296183
Intra CEP19 Q96LK0 ZBTB10 Homo sapiens Q96DT7-3
Y2H Array
32296183
Intra CEP19 Q96LK0 ZBTB10 Homo sapiens Q96DT7-3
Y2H Prey Pooling
32296183
Intra CEP19 Q96LK0 SYNE4 Homo sapiens Q8N205-2
Y2H Prey Pooling
32296183
Intra CEP19 Q96LK0 SYNE4 Homo sapiens Q8N205-2
Y2H Array
32296183
Intra CEP19 Q96LK0 RABL2B Homo sapiens Q9UNT1-2
Y2H Prey Pooling
32296183
Intra CEP19 Q96LK0 RABL2B Homo sapiens Q9UNT1-2
Validated Y2H
32296183
Intra CEP19 Q96LK0 RABL2B Homo sapiens Q9UNT1-2
Y2H Array
32296183
Intra CEP19 Q96LK0 CEP43 Homo sapiens O95684
Anti Tag CoIP
33961781
Intra CEP19 Q96LK0 CEP43 Homo sapiens O95684
Anti Tag CoIP
26638075
Intra CEP19 Q96LK0 CEP43 Homo sapiens O95684
BioID
26638075
Intra CEP19 Q96LK0 CEP43 Homo sapiens O95684
Validated Y2H
25416956
Intra CEP19 Q96LK0 CEP43 Homo sapiens O95684-2
Y2H Array
32296183
Intra CEP19 Q96LK0 CEP43 Homo sapiens O95684-2
Y2H Prey Pooling
32296183
Intra CEP19 Q96LK0 q6zt36_human Homo sapiens Q6ZT36
Y2H Prey Pooling
32296183
Intra CEP19 Q96LK0 q6zt36_human Homo sapiens Q6ZT36
Y2H Array
32296183
Intra CEP19 Q96LK0 PIBF1 Homo sapiens Q4G0R1
Y2H Prey Pooling
32296183
Intra CEP19 Q96LK0 PIBF1 Homo sapiens Q4G0R1
Y2H Array
32296183
Intra CEP19 Q96LK0 NOTO Homo sapiens A8MTQ0
Y2H Array
32296183
Intra CEP19 Q96LK0 NOTO Homo sapiens A8MTQ0
Y2H Prey Pooling
32296183
Intra CEP19 Q96LK0 TRAIP Homo sapiens Q9BWF2
Y2H Prey Pooling
32296183
Intra CEP19 Q96LK0 TRAIP Homo sapiens Q9BWF2
Validated Y2H
32296183
Intra CEP19 Q96LK0 TRAIP Homo sapiens Q9BWF2
Y2H Array
32296183
Intra CEP19 Q96LK0 LYSMD2 Homo sapiens Q8IV50-2
Y2H Prey Pooling
32296183
Intra CEP19 Q96LK0 LYSMD2 Homo sapiens Q8IV50-2
Y2H Array
32296183
Intra CEP19 Q96LK0 PRAP1 Homo sapiens Q96NZ9
Y2H Array
32296183
Intra CEP19 Q96LK0 PRAP1 Homo sapiens Q96NZ9
Y2H Prey Pooling
32296183
Intra CEP19 Q96LK0 PRAP1 Homo sapiens Q96NZ9
Validated Y2H
32296183
Intra CEP19 Q96LK0 ZFP1 Homo sapiens Q6P2D0
Y2H Prey Pooling
32296183
Intra CEP19 Q96LK0 ZFP1 Homo sapiens Q6P2D0
Y2H Array
32296183
Intra CEP19 Q96LK0 VPS52 Homo sapiens Q8N1B4
Y2H Array
32296183
Intra CEP19 Q96LK0 VPS52 Homo sapiens Q8N1B4
Y2H Prey Pooling
32296183
Intra CEP19 Q96LK0 PRKAR1B Homo sapiens P31321
Y2H Array
32296183
Intra CEP19 Q96LK0 PRKAR1B Homo sapiens P31321
Y2H Prey Pooling
32296183
Intra CEP19 Q96LK0 CDR1 Homo sapiens P51861
Y2H Array
32296183
Intra CEP19 Q96LK0 CDR1 Homo sapiens P51861
Y2H Prey Pooling
32296183
Intra CEP19 Q96LK0 SENP3 Homo sapiens Q9H4L4
Validated Y2H
32296183
Intra CEP19 Q96LK0 SENP3 Homo sapiens Q9H4L4
Y2H Array
32296183
Intra CEP19 Q96LK0 SENP3 Homo sapiens Q9H4L4
Y2H Prey Pooling
32296183
Intra CEP19 Q96LK0 VCP Homo sapiens P55072
Y2H Prey Pooling
32296183
Intra CEP19 Q96LK0 VCP Homo sapiens P55072
Y2H Array
25416956
Intra CEP19 Q96LK0 VCP Homo sapiens P55072
Y2H Array
32296183
Intra CEP19 Q96LK0 ZNF420 Homo sapiens Q8TAQ5
Y2H Array
32296183
Intra CEP19 Q96LK0 ZNF420 Homo sapiens Q8TAQ5
Y2H Prey Pooling
32296183
Intra CEP19 Q96LK0 RABL2A Homo sapiens Q9UBK7-2
Validated Y2H
32296183
Intra CEP19 Q96LK0 RABL2A Homo sapiens Q9UBK7-2
Y2H Array
25416956
Intra CEP19 Q96LK0 RABL2A Homo sapiens Q9UBK7-2
Y2H Array
32296183
Intra CEP19 Q96LK0 RABL2A Homo sapiens Q9UBK7-2
Y2H Prey Pooling
25416956
Intra CEP19 Q96LK0 RABL2A Homo sapiens Q9UBK7-2
Validated Y2H
25416956
Intra CEP19 Q96LK0 RABL2A Homo sapiens Q9UBK7-2
Y2H Prey Pooling
32296183
Intra CEP19 Q96LK0 PEX13 Homo sapiens Q92968
Y2H Array
32296183
Intra CEP19 Q96LK0 PEX13 Homo sapiens Q92968
Y2H Prey Pooling
32296183
Intra CEP19 Q96LK0 GNL3 Homo sapiens Q9BVP2
Validated Y2H
32296183
Intra CEP19 Q96LK0 GNL3 Homo sapiens Q9BVP2
BioID
26638075
Intra CEP19 Q96LK0 ROBO4 Homo sapiens Q8WZ75
Y2H Prey Pooling
32296183
Intra CEP19 Q96LK0 ROBO4 Homo sapiens Q8WZ75
Y2H Array
32296183
Intra CEP19 Q96LK0 CCDC106 Homo sapiens Q9BWC9
Validated Y2H
32296183
Intra CEP19 Q96LK0 CCDC106 Homo sapiens Q9BWC9
Y2H Prey Pooling
32296183
Intra CEP19 Q96LK0 CCDC106 Homo sapiens Q9BWC9
Y2H Array
32296183
Intra CEP19 Q96LK0 SYNE4 Homo sapiens Q8N205
Y2H Prey Pooling
25416956
Intra CEP19 Q96LK0 SYNE4 Homo sapiens Q8N205
Validated Y2H
25416956
Intra CEP19 Q96LK0 SYNE4 Homo sapiens Q8N205
Y2H Array
25416956
Intra CEP19 Q96LK0 PTPN23 Homo sapiens Q9H3S7
Y2H Prey Pooling
32296183
Intra CEP19 Q96LK0 PTPN23 Homo sapiens Q9H3S7
Validated Y2H
32296183
Intra CEP19 Q96LK0 PTPN23 Homo sapiens Q9H3S7
Y2H Array
32296183
Intra CEP19 Q96LK0 HSPB2 Homo sapiens Q16082
Y2H Array
32296183
Intra CEP19 Q96LK0 HSPB2 Homo sapiens Q16082
Y2H Prey Pooling
32296183
Intra CEP19 Q96LK0 KXD1 Homo sapiens Q9BQD3
Validated Y2H
32296183
Intra CEP19 Q96LK0 KXD1 Homo sapiens Q9BQD3
Y2H Array
32296183
Intra CEP19 Q96LK0 KXD1 Homo sapiens Q9BQD3
Y2H Prey Pooling
32296183
Intra CEP19 Q96LK0 DDIT4L Homo sapiens Q96D03
Y2H Array
32296183
Intra CEP19 Q96LK0 DDIT4L Homo sapiens Q96D03
Y2H Prey Pooling
32296183
Intra CEP19 Q96LK0 TNNI1 Homo sapiens P19237
Y2H Prey Pooling
32296183
Intra CEP19 Q96LK0 TNNI1 Homo sapiens P19237
Y2H Array
32296183
Intra CEP19 Q96LK0 SERTAD3 Homo sapiens Q9UJW9
Y2H Prey Pooling
32296183
Intra CEP19 Q96LK0 SERTAD3 Homo sapiens Q9UJW9
Y2H Array
32296183
Intra CEP19 Q96LK0 SERTAD3 Homo sapiens Q9UJW9
Validated Y2H
32296183
Intra CEP19 Q96LK0 CALCOCO1 Homo sapiens Q9P1Z2
Validated Y2H
32296183
Intra CEP19 Q96LK0 CALCOCO1 Homo sapiens Q9P1Z2
Validated Y2H
25416956
Intra CEP19 Q96LK0 CALCOCO1 Homo sapiens Q9P1Z2
Y2H Prey Pooling
32296183
Intra CEP19 Q96LK0 CALCOCO1 Homo sapiens Q9P1Z2
Y2H Array
25416956
Intra CEP19 Q96LK0 CALCOCO1 Homo sapiens Q9P1Z2
Y2H Array
32296183
Intra CEP19 Q96LK0 PICK1 Homo sapiens Q9NRD5
Y2H Array
32296183
Intra CEP19 Q96LK0 PICK1 Homo sapiens Q9NRD5
Y2H Prey Pooling
32296183
Intra CEP19 Q96LK0 PICK1 Homo sapiens Q9NRD5
Validated Y2H
32296183
Intra CEP19 Q96LK0 CCDC74A Homo sapiens Q96AQ1
Y2H Prey Pooling
32296183
Intra CEP19 Q96LK0 CCDC74A Homo sapiens Q96AQ1
Y2H Array
32296183
Intra CEP19 Q96LK0 CREB3L3 Homo sapiens Q68CJ9
Y2H Prey Pooling
32296183
Intra CEP19 Q96LK0 CREB3L3 Homo sapiens Q68CJ9
Y2H Array
32296183
Intra CEP19 Q96LK0 EVI5 Homo sapiens O60447
Y2H Prey Pooling
32296183
Intra CEP19 Q96LK0 EVI5 Homo sapiens O60447
Y2H Array
32296183
Intra CEP19 Q96LK0 ANAPC15 Homo sapiens P60006
Y2H Array
32296183
Intra CEP19 Q96LK0 ANAPC15 Homo sapiens P60006
Y2H Prey Pooling
32296183
Intra CEP19 Q96LK0 TSPYL2 Homo sapiens Q9H2G4
Y2H Prey Pooling
32296183
Intra CEP19 Q96LK0 TSPYL2 Homo sapiens Q9H2G4
Validated Y2H
32296183
Intra CEP19 Q96LK0 TSPYL2 Homo sapiens Q9H2G4
Y2H Array
32296183
Intra CEP19 Q96LK0 GMEB2 Homo sapiens Q9UKD1
Y2H Array
32296183
Intra CEP19 Q96LK0 GMEB2 Homo sapiens Q9UKD1
Validated Y2H
32296183
Intra CEP19 Q96LK0 GMEB2 Homo sapiens Q9UKD1
Y2H Prey Pooling
32296183
Intra CEP19 Q96LK0 PLEKHO1 Homo sapiens Q53GL0
Y2H Array
32296183
Intra CEP19 Q96LK0 PLEKHO1 Homo sapiens Q53GL0
Y2H Prey Pooling
32296183
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
Morbid Obesity And Spermatogenic Failure

Obesity Due To Cep19 Deficiency

MOSPGF

Mo1 Syndrome

Obesity, Morbid, And Spermatogenic Failure
Bardet-Biedl Syndrome

Bbs

Biedl-Bardet Syndrome
Immunodeficiency 46

Tfrc-Related Combined Immunodeficiency

IMD46

Cid Due To Tfrc Deficiency

Combined Immunodeficiency Due To Tfrc Deficiency
Chromosome 3q29 Duplication Syndrome

Chromosome 3q29 Microduplication Syndrome

Trisomy 3q29

Microduplication 3q29 Syndrome

3q29 Microduplication

3q29 Microduplication Syndrome

3q29 Interstitial Microduplication
Spermatogenic Failure

Azoospermia

Spgf

Spermatogenic Failure, Susceptibility To

Absent Sperm

Aspermatogenesis

Infertility Due To Azoospermia

Hypospermatogenesis

Azoospermatism
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy

Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome

SMDCRD

Smd-Crd

Dysplasia, Spondylometaphyseal, With Cone-Rod Dystrophy
Endocrine-Cerebroosteodysplasia

Endocrine-Cerebro-Osteodysplasia Syndrome

ECO

Eco Syndrome
Seckel Syndrome 7

SCKL7

Microcephalic Primordial Dwarfism, Dauber Type

Seckel Syndrome, Type 7
Orofaciodigital Syndrome Ix

OFD9

Orofaciodigital Syndrome With Retinal Abnormalities

Oral-Facial-Digital Syndrome With Retinal Abnormalities

Orofaciodigital Syndrome 9

Oral-Facial-Digital Syndrome Type 9

Ofds Ix

Oral-Facial-Digital Syndrome, Type Ix

Ofd Syndrome 9

Ofds 9

Oral Facial Digital Syndrome 9

Oral Facial Digital Syndrome Type 9

Orofaciodigital Syndrome Type 9

Orofaciodigital Syndrome, Type Ix
Alstrom Syndrome

ALMS

Alström Syndrome

Alss

Alstrom-Hallgren Syndrome

Alstroem Syndrome
Chromosome 3q29 Deletion Syndrome

Chromosome 3q29 Microdeletion Syndrome

3q29 Microdeletion Syndrome

3q Subtelomere Deletion Syndrome

3q29 Recurrent Deletion

3qter Deletion

3q29 Deletion Syndrome

Monosomy 3q29

Microdeletion 3q29 Syndrome

Del(3)(Q29)

Monosomy 3qter

3q29 Deletion

Del3q29
Retinitis Pigmentosa 83

RP83

Retinitis Pigmentosa, Type 83
Cone-Rod Dystrophy 20

CORD20

Dystrophy, Cone-Rod, Type 20
Polydactyly

Non-Syndromic Polydactyly

Polydactyly, Postaxial

Postaxial Polydactyly

Supernumerary Digit

Extra Digits

Hyperdactyly

Polydactylia

Polydactylism

Supernumerary Digits
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS02507 CEP19 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus CEP19 MGD MGI:1914244
Bos taurus CEP19 VGNC VGNC:27198
Canis familiaris CEP19 VGNC VGNC:39123
Felis catus CEP19 VGNC VGNC:102643
Rattus norvegicus CEP19 RGD RGD:621352
Macaca mulatta CEP19 VGNC VGNC:71121
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