1. Gene
  2. CCDC14 - coiled-coil domain containing 14 Gene

CCDC14 - coiled-coil domain containing 14 Gene

中文名称:含卷曲螺旋结构域 14

种属: Homo sapiens

基因 ID: 64770 | 基因类型: protein coding

关于 CCDC14

Cytogenetic location: 3q21.1 Genomic coordinates (GRCh38): 3:123,885,176-123,961,229 (from NCBI)

This gene has 22 transcripts (splice variants) and 159 orthologues. Ubiquitous expression in testis (RPKM 10.7), bone marrow (RPKM 8.7) and 25 other tissues.

功能概要

参与蛋白质向中心体的定位。位于中心卫星。 [由基因组资源联盟提供,2022 年 4 月]

Involved in protein localization to centrosome. Located in centriolar satellite. [provided by Alliance of Genome Resources, Apr 2022]

CCDC14 基因产物(7)

mRNA Protein Name
NM_001308317.2 NP_001295246.1 coiled-coil domain-containing protein 14 isoform 2
NM_001366335.1 NP_001353264.1 coiled-coil domain-containing protein 14 isoform 3
NM_001366336.1 NP_001353265.1 coiled-coil domain-containing protein 14 isoform 2
NM_001366337.1 NP_001353266.1 coiled-coil domain-containing protein 14 isoform 2
NM_001366338.1 NP_001353267.1 coiled-coil domain-containing protein 14 isoform 4
NM_001366339.1 NP_001353268.1 coiled-coil domain-containing protein 14 isoform 5
NM_022757.5 NP_073594.5 coiled-coil domain-containing protein 14 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
17043677 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in protein localization to centrosome IMP
IMP: 通过突变表型推断
26297806 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in centriolar satellite IDA
IDA: 通过直接分析推断
26297806 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

CCDC14 蛋白结构

CCDC14

CCDC14: Coiled-coil domain-containing protein 14 (97 - 125)

CCDC14

CCDC14: Coiled-coil domain-containing protein 14 (126 - 912)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 912 a.a.
蛋白主名 其他名称

coiled-coil domain-containing protein 14

CCDC14 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 CCDC14 Q49A88 MAGEA11 Homo sapiens P43364-2
Y2H Prey Pooling
25416956
Intra CCDC14 Q49A88 MAGEA11 Homo sapiens P43364-2
Validated Y2H
25416956
Intra CCDC14 Q49A88 PEX5 Homo sapiens P50542
Validated Y2H
25416956
Intra CCDC14 Q49A88 PEX5 Homo sapiens P50542
Y2H Prey Pooling
25416956
Intra CCDC14 Q49A88 PCM1 Homo sapiens Q15154
Anti Tag CoIP
26496610
Intra CCDC14 Q49A88 CEP63 Homo sapiens Q96MT8
Anti Bait CoIP
26297806
Intra CCDC14 Q49A88 CEP63 Homo sapiens Q96MT8
Y2H
17043677
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
Noonan Syndrome 1

Noonan Syndrome

NS1

Male Turner Syndrome

Female Pseudo-Turner Syndrome

Turner Phenotype With Normal Karyotype

Noonan Syndrome With Pigmented Villonodular Synovitis

Turner'S Phenotype, Karyotype Normal

Familial Turner Syndrome

Noonan'S Syndrome

Noonan-Ehmke Syndrome

Ns

Pseudo-Ullrich-Turner Syndrome

Turner Syndrome In Female With X Chromosome

Turner-Like Syndrome

Ullrich-Noonan Syndrome

Noonan-Like/Multiple Giant Cell Lesion Syndrome

Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions

Pterygium Colli Syndrome

Noonan Syndrome, Type 1

Turner Syndrome, Male

Theileriasis

Theileriosis

Infection By Theileria

Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly

Mcph

True Microcephaly

Microcephalia Vera

Microcephaly Vera

Microcephaly Primary Hereditary

Microcephaly, Primary, Autosomal Recessive

Primary Microcephaly

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
Bos taurus CCDC14 VGNC VGNC:26851
Felis catus CCDC14 VGNC VGNC:60462
Canis familiaris CCDC14 VGNC VGNC:38795
Mus musculus CCDC14 MGD MGI:2443448
Rattus norvegicus CCDC14 RGD RGD:1562189
Macaca mulatta CCDC14 VGNC VGNC:70863