ZCCHC8 - zinc finger CCHC-type containing 8 Gene

Homo sapiens

Also known as PFBMFT5

Gene ID: 55596 | Gene type: protein coding

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	Reference	Source
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	Reference	Source
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	Reference	Source
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

PSP

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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Related Diseases

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS16007	ZCCHC8 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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

Name
Email *

	Sorry, but the email address you supplied was invalid.