ZCCHC8 - zinc finger CCHC-type containing 8 Gene

Also Known as PFBMFT5

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 55596

About 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.

Summary

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 Products (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

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence 参考文献 由来
enables RNA binding IDA
IDA: Inferred from direct assay
31488579 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16263084 GOA
Biological Process GO Annotation Evidence 参考文献 由来
involved in RNA processing IMP
IMP: Inferred from mutant phenotype
31488579 GOA
involved in mRNA 3'-end processing IMP
IMP: Inferred from mutant phenotype
31488579 GOA
Cellular Component GO Annotation Evidence 参考文献 由来
part of TRAMP complex IDA
IDA: Inferred from direct assay
21855801 GOA
part of catalytic step 2 spliceosome IDA
IDA: Inferred from direct assay
11991638 GOA
NOT located in nucleolus IDA
IDA: Inferred from direct assay
21855801 GOA
located in nucleoplasm IDA
IDA: Inferred from direct assay
16263084 GOA
located in nucleus IDA
IDA: Inferred from direct assay
21855801 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ZCCHC8 Protein Structure

zf-CCHC

zf-CCHC: Zinc knuckle (228 - 243)

PSP

PSP: PSP (287 - 334)

  • 0
  • 200
  • 400
  • 600
  • 707 a.a.
Protein Preferred Names Protein Names

zinc finger CCHC domain-containing protein 8

  • TRAMP-like complex RNA-binding factor ZCCHC8

ZCCHC8 Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Intra
ZCCHC8 Q6NZY4 BRCA1 Homo sapiens P38398
Anti Bait CoIP
17525332
Intra
ZCCHC8 Q6NZY4 RBM7 Homo sapiens Q9Y580
X-Ray Diffraction
27905398
Intra
ZCCHC8 Q6NZY4 RBM7 Homo sapiens Q9Y580
MST
27905398
Intra
ZCCHC8 Q6NZY4 RBM7 Homo sapiens Q9Y580
Anti Tag CoIP
27905398
Intra
ZCCHC8 Q6NZY4 RBM7 Homo sapiens Q9Y580
Pull Down
27905398
Intra
ZCCHC8 Q6NZY4 RBM7 Homo sapiens Q9Y580
Enzymatic Footprint
27905398
Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases Alias
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
Diseases Alias
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-RS16007 ZCCHC8 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 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
Others ZCCHC8 NCBI