1. Gene
  2. ZCCHC8 - zinc finger CCHC-type containing 8 Gene

ZCCHC8 - zinc finger CCHC-type containing 8 Gene

中文名称:含锌指 CCHC 型 8

种属: Homo sapiens

同用名: PFBMFT5

基因 ID: 55596 | 基因类型: protein coding

关于 ZCCHC8

Cytogenetic location: 12q24.31 Genomic coordinates (GRCh38): 12:122,471,600-122,500,932 (from NCBI)

This gene has 11 transcripts (splice variants), 205 orthologues and is associated with 60 phenotypes. Ubiquitous expression in bone marrow (RPKM 13.2), testis (RPKM 5.5) and 25 other tissues.

功能概要

该基因编码一种支架蛋白,作为核 RNA 外泌体复合物的评估因子。编码的蛋白质与 hMTR4 和 RNA 结合因子 RBM7 一起形成三聚体人核外泌体靶向 (NEXT) 复合物,后者促进非编码启动子上游转录本、增强子 RNA 和组蛋白 3'- 延伸产物的外泌体降解。和小核 RNA 转录。这种复合物也被认为通过与外泌体和剪接体的相互作用募集外泌体来降解内含子 RNA。它包含一个 N 末端锌关节结构域和一个 C 末端富含脯氨酸的结构域。[RefSeq 提供,2017 年 4 月]

This gene encodes a scaffold protein which serves as an assessory factor to the nuclear RNA exosome complex. The encoded protein forms a trimeric human nuclear exosome targeting (NEXT) complex, together with hMTR4 and the RNA-binding factor RBM7 which promotes the exosomal degradation of non-coding promoter-upstream transcripts, enhancer RNAs and 3'-extended products of histone- and small nuclear RNA transcription. This complex is also thought to recruit the exosome to degrade intronic RNAs via its interaction with both the exosome and the spliceosome. It contains both an N-terminal zinc-knuckle domain and a C-terminal proline-rich domain. [provided by RefSeq, Apr 2017]

ZCCHC8 基因产物(5)

mRNA Protein Name
NM_001350935.2 NP_001337864.1 zinc finger CCHC domain-containing protein 8 isoform 2
NM_001350936.2 NP_001337865.1 zinc finger CCHC domain-containing protein 8 isoform 3
NM_001350937.2 NP_001337866.1 zinc finger CCHC domain-containing protein 8 isoform 4
NM_001350938.2 NP_001337867.1 zinc finger CCHC domain-containing protein 8 isoform 4
NM_017612.5 NP_060082.2 zinc finger CCHC domain-containing protein 8 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 RNA binding IDA
IDA: 通过直接分析推断
31488579 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16263084 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in RNA processing IMP
IMP: 通过突变表型推断
31488579 GOA
involved in mRNA 3'-end processing IMP
IMP: 通过突变表型推断
31488579 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of TRAMP complex IDA
IDA: 通过直接分析推断
21855801 GOA
part of catalytic step 2 spliceosome IDA
IDA: 通过直接分析推断
11991638 GOA
NOT located in nucleolus IDA
IDA: 通过直接分析推断
21855801 GOA
located in nucleoplasm IDA
IDA: 通过直接分析推断
16263084 GOA
located in nucleus IDA
IDA: 通过直接分析推断
21855801 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

ZCCHC8 蛋白结构

zf-CCHC

zf-CCHC: Zinc knuckle (228 - 243)

PSP

PSP: PSP (287 - 334)

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

zinc finger CCHC domain-containing protein 8

TRAMP-like complex RNA-binding factor ZCCHC8

ZCCHC8 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
ZCCHC8 Q6NZY4 BRCA1 Homo sapiens P38398 17525332
种属内
ZCCHC8 Q6NZY4 RBM7 Homo sapiens Q9Y580 27905398
种属内
ZCCHC8 Q6NZY4 RBM7 Homo sapiens Q9Y580
MST
27905398
种属内
ZCCHC8 Q6NZY4 RBM7 Homo sapiens Q9Y580 27905398
种属内
ZCCHC8 Q6NZY4 RBM7 Homo sapiens Q9Y580 27905398
种属内
ZCCHC8 Q6NZY4 RBM7 Homo sapiens Q9Y580 27905398
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
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 5

PFBMFT5

Pulmonary Fibrosis, And/Or Bone Marrow Failure, Telomere-Related, 5

Gliofibroma
Trichohepatoenteric Syndrome 1

Trichohepatoenteric Syndrome

Syndromic Diarrhea

Tricho-Hepato-Enteric Syndrome

Sd/The

Syndromic Diarrhea/Tricho-Hepato-Enteric Syndrome

THES1

Phenotypic Diarrhea

Thes

Phenotypic Diarrhea Of Infancy

Diarrhea, Syndromic

Diarrhea, Fatal Infantile, With Trichorrhexis Nodosa

Intractable Diarrhea With Phenotypic Anomalies

Syndromatic Diarrhea

Fatal Infantile Diarrhea With Trichorrhexis Nodosa

Pulmonary Fibrosis

Fibrosis Of Lung

Trichohepatoenteric Syndrome 2

THES2

Aplastic Anemia

Aplastic Anemia, Susceptibility To

Anemia Aplastic

Idiopathic Aplastic Anemia

Secondary Aplastic Anemia

Idiopathic Bone Marrow Failure

Aplastic Anemia Idiopathic

AA

Anemia, Aplastic

Aplastic Anemia, Idiopathic

Erythroid Aplasia

Aa - [Aplastic Anaemia]

Haematopoietic Aplasia

Aleukia Haemorrhagica

Anaemia Due To Decreased Red Cell Production

Aplasia Bone Marrow

Aplastic Bone Marrow

Hypoplastic Anaemia Nos

Myeloid Bone Marrow Aplasia

Pancytopenia

Panhaematopenia

Hypoproliferative Anaemia

Medullary Hypoplasia

Red Blood Cells Hypoplastic Anaemia

Panmyelophthisis

Panhemocytopenia

Refractive Hypoproliferative Anaemia

Toxic Anaemia

Toxic Aplastic Anaemia

Aplastic Anaemia Due To Toxic Cause

Idiopathic Aplastic Anaemia Nos

Pontocerebellar Hypoplasia, Type 1e

Pontocerebellar Hypoplasia Type 1

PCH1E

Norman Disease

Pch1

Pontocerebellar Hypoplasia With Anterior Horn Cell Disease

Pontocerebellar Hypoplasia With Infantile Spinal Muscular Atrophy

Pontocerebellar Hypoplasia Type 1e

Pontocerebellar Hypoplasia 1e

Doid:0112322

Doid:0112330

Myelodysplastic Syndrome

Myelodysplastic Syndromes

Myelodysplasia

MDS

Myelodysplastic Syndrome Included

Myelodysplastic Syndrome, Susceptibility To, Included

Myelodysplastic Syndrome, Somatic

Myelodysplastic Syndrome, Susceptibility To

Pontocerebellar Hypoplasia

Pch

Congenital Pontocerebellar Hypoplasia

Opch

Hypoplasia, Pontocerebellar

Pontoneocerebellar Hypoplasia

Nonsyndromic Pontocerebellar Hypoplasia

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
Canis familiaris ZCCHC8 VGNC VGNC:48572
Rattus norvegicus ZCCHC8 RGD RGD:1309774
Felis catus ZCCHC8 VGNC VGNC:67198
Bos taurus ZCCHC8 VGNC VGNC:37123
Macaca mulatta ZCCHC8 VGNC VGNC:79487
Mus musculus ZCCHC8 MGD MGI:1917900