1. Gene
  2. CCDC47 - coiled-coil domain containing 47 Gene

CCDC47 - coiled-coil domain containing 47 Gene

中文名称:含卷曲螺旋结构域 47

种属: Homo sapiens

同用名: THNS; GK001; MSTP041

基因 ID: 57003 | 基因类型: protein coding

关于 CCDC47

Cytogenetic location: 17q23.3 Genomic coordinates (GRCh38): 17:63,745,255-63,773,597 (from NCBI)

This gene has 6 transcripts (splice variants), 213 orthologues and is associated with 2 phenotypes. Ubiquitous expression in colon (RPKM 44.7), duodenum (RPKM 34.8) and 25 other tissues.

功能概要

启用蛋白质折叠伴侣和核糖体结合活性。参与 ERAD 通路;内质网钙离子稳态;和蛋白质插入 ER 膜。位于内质网。是内质网膜的组成部分。 [由基因组资源联盟提供,2022 年 4 月]

Enables protein folding chaperone and ribosome binding activity. Involved in ERAD pathway; endoplasmic reticulum calcium ion homeostasis; and protein insertion into ER membrane. Located in endoplasmic reticulum. Is integral component of endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022]

CCDC47 基因产物(1)

mRNA Protein Name
NM_020198.3 NP_064583.2 PAT complex subunit CCDC47 precursor
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
21903422 GOA
enables protein folding chaperone IDA
IDA: 通过直接分析推断
32814900 GOA
enables ribosome binding IDA
IDA: 通过直接分析推断
32820719 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in ERAD pathway IMP
IMP: 通过突变表型推断
25009997 GOA
involved in endoplasmic reticulum calcium ion homeostasis IMP
IMP: 通过突变表型推断
30401460 GOA
involved in multi-pass transmembrane protein insertion into ER membrane IDA
IDA: 通过直接分析推断
36261522 GOA
involved in protein insertion into ER membrane IDA
IDA: 通过直接分析推断
32814900 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
32814900 GOA
part of multi-pass translocon complex IDA
IDA: 通过直接分析推断
36261522 GOA
part of multi-pass translocon complex IPI
IPI: 通过物理相互作用推断
36261522 GOA
part of protein folding chaperone complex IPI
IPI: 通过物理相互作用推断
32814900 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

CCDC47 蛋白结构

DUF1682

DUF1682: Protein of unknown function (DUF1682) (133 - 467)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 483 a.a.
蛋白主名 其他名称

PAT complex subunit CCDC47

Calumin

CCDC47 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
种属内
CCDC47 Q96A33 YWHAG Homo sapiens P61981 32814053
种属内
CCDC47 Q96A33 YWHAG Homo sapiens P61981 32814053
种属内
CCDC47 Q96A33 YWHAG Homo sapiens P61981 32814053
种属内
CCDC47 Q96A33 KAT5 Homo sapiens Q92993 32814053
种属内
CCDC47 Q96A33 KAT5 Homo sapiens Q92993 32814053
种属内
CCDC47 Q96A33 KAT5 Homo sapiens Q92993 32814053
种属间
CCDC47 Q96A33 Sarm1 Mus musculus Q6PDS3 21903422
种属内
CCDC47 Q96A33 WDR83OS Homo sapiens Q9Y284 32814900
种属内
CCDC47 Q96A33 WDR83OS Homo sapiens Q9Y284 35271311
种属内
CCDC47 Q96A33 SETDB1 Homo sapiens Q15047-2 32814053
种属内
CCDC47 Q96A33 SETDB1 Homo sapiens Q15047-2 32814053
种属内
CCDC47 Q96A33 SETDB1 Homo sapiens Q15047-2 32814053
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 CCDC47 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76768 CCDC47 Protein, Human (HEK293, His) Q96A33 (K21-S135) ≥95%

关联疾病

疾病名称 别名
Trichohepatoneurodevelopmental Syndrome

THNS

Atypical Choroid Plexus Papilloma

Atypical Papilloma Of Choroid Plexus

Atypical Cpp

Choroid Plexus Cancer

Choroid Plexus Carcinoma

Choroid Plexus Neoplasms

Choroid Plexus Neoplasm

Tumor Of Choroid Plexus

Tumor Of The Choroid Plexus

Choroid Plexus Tumor

Choroid Plexus Tumors

Anaplastic Choroid Plexus Papilloma

Choroid Plexus Papilloma Nos

Papilloma Of Choroid Plexus

Plexus Choroideus Papilloma

Choroid Plexus Papilloma In Fourth Ventricle

Plexus Choroideus Papilloma In Fourth Ventricle

Cerebrovascular Benign Neoplasm
Papilloma Of Choroid Plexus

Choroid Plexus Papilloma

CPP

Childhood Choroid Plexus Papilloma

Papilloma Choroid Plexus

Papilloma, Choroid Plexus

Choroid Plexus Carcinoma

Familial Woolly Hair Syndrome

Wooly Hair

Familial Wooly Hair Syndrome

Hereditary Woolly Hair Syndrome

Hereditary Wooly Hair Syndrome

Woolly Hair

Syndrome With Woolly Hair

Wooly Hair Syndrome

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
Felis catus CCDC47 VGNC VGNC:97373
Canis familiaris CCDC47 VGNC VGNC:51936
Rattus norvegicus CCDC47 RGD RGD:1308813
Bos taurus CCDC47 VGNC VGNC:97247
Mus musculus CCDC47 MGD MGI:1914413
Macaca mulatta CCDC47 VGNC VGNC:97745
Others CCDC47 NCBI