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UniProtKB - Q6NZY4 (ZCHC8_HUMAN)

Entry version 161 (12 Aug 2020)
Sequence version 2 (10 May 2005)
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Protein

Zinc finger CCHC domain-containing protein 8

Gene

ZCCHC8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Scaffolding subunit of the trimeric nuclear exosome targeting (NEXT) complex that is involved in the surveillance and turnover of aberrant transcripts and non-coding RNAs (PubMed:27871484). NEXT functions as an RNA exosome cofactor that directs a subset of non-coding short-lived RNAs for exosomal degradation. May be involved in pre-mRNA splicing (Probable). It is required for 3'-end maturation of telomerase RNA component (TERC), TERC 3'-end targeting to the nuclear RNA exosome, and for telomerase function (PubMed:31488579).1 Publication2 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri227 – 244CCHC-typePROSITE-ProRule annotationAdd BLAST18

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processmRNA processing, mRNA splicing
LigandMetal-binding, Zinc

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q6NZY4

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Zinc finger CCHC domain-containing protein 8
Alternative name(s):
TRAMP-like complex RNA-binding factor ZCCHC8
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ZCCHC8
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 12

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000033030.13

Human Gene Nomenclature Database

More...HGNCi		HGNC:25265, ZCCHC8

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		616381, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q6NZY4

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus, Spliceosome

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 5 (PFBMFT5)1 Publication
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at onset, and severity are determined by telomere length. PFBMFT5 inheritance is autosomal dominant.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_083448186P → L in PFBMFT5; decreased levels of mature TERC in patient cells consistent with impaired function in RNA processing; decreased levels of mutant protein in patient cells. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi295L → E: Impaired interaction with ZCCHC8; when associated with E-299. 1 Publication1
Mutagenesisi299L → E: Impaired interaction with ZCCHC8; when associated with E-295. 1 Publication1
Mutagenesisi309F → A: Reduced interaction with ZCCHC8; when associated with E-313. 1 Publication1
Mutagenesisi313M → E: Reduced interaction with ZCCHC8; when associated with A-309. 1 Publication1
Mutagenesisi492T → A: Impaired phosphorylation by GSK3. 1 Publication1
Mutagenesisi662D → A: Does not alter RNA helicase activity of NEXT complex; when associated with K-666. 1 Publication1
Mutagenesisi666F → K: Does not alter RNA helicase activity of NEXT complex; when associated with A-662. 1 Publication1
Mutagenesisi673F → A: Does not affect RNA helicase activity of NEXT complex; when associated with A-675. 1 Publication1
Mutagenesisi674E → A: Does not affect RNA helicase activity of NEXT complex; when associated with A-676. 1 Publication1
Mutagenesisi675F → A: Does not affect RNA helicase activity of NEXT complex; when associated with A-673. 1 Publication1
Mutagenesisi676E → A: Does not affect RNA helicase activity of NEXT complex; when associated with A-674. 1 Publication1
Mutagenesisi688I → E: Loss of RNA helicase activity of NEXT complex; when associated with E-692. 1 Publication1
Mutagenesisi692L → E: Loss of RNA helicase activity of NEXT complex; when associated with E-688. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		55596

MalaCards human disease database

More...MalaCardsi		ZCCHC8
MIMi618674, phenotype

Open Targets

More...OpenTargetsi		ENSG00000033030

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134889410

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q6NZY4, Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ZCCHC8

Domain mapping of disease mutations (DMDM)

More...DMDMi		66774213

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001509602 – 707Zinc finger CCHC domain-containing protein 8Add BLAST706

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanineCombined sources1
Modified residuei342PhosphothreonineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki413Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei472PhosphothreonineCombined sources1
Modified residuei479PhosphothreonineCombined sources1
Modified residuei485PhosphothreonineCombined sources1
Modified residuei492Phosphothreonine; by GSK3Combined sources1 Publication1
Modified residuei577PhosphothreonineCombined sources1
Modified residuei598PhosphoserineCombined sources1
Modified residuei648PhosphothreonineCombined sources1
Modified residuei649PhosphoserineCombined sources1
Modified residuei658PhosphoserineCombined sources1
Modified residuei695PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylation at Thr-492 by GSK3 is triggered in cells entering mitosis; this phosphorylation is greatly enhanced by nocodazole treatment, but reduced by lithium.1 Publication

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

The CPTAC Assay portal

More...CPTACi		CPTAC-1021

Encyclopedia of Proteome Dynamics

More...EPDi		Q6NZY4

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q6NZY4

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q6NZY4

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q6NZY4

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q6NZY4

PeptideAtlas

More...PeptideAtlasi		Q6NZY4

PRoteomics IDEntifications database

More...PRIDEi		Q6NZY4

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		66798 [Q6NZY4-1]
66799 [Q6NZY4-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q6NZY4

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q6NZY4

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Slight accumulation in cells entering S phase of the cell cycle.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000033030, Expressed in cervix squamous epithelium and 229 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q6NZY4, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q6NZY4, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000033030, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of a nuclear TRAMP-like complex, an ATP-dependent exosome regulatory complex consisting of a helicase (MTREX), an oligadenylate polymerase (TENT4B or TENT4A), and a substrate specific RNA-binding factor (ZCCHC7 or ZCCHC8). Several TRAMP-like complexes exist with specific compositions and are associated with nuclear, or nucleolar RNA exosomes. Identified in the spliceosome C complex.

Component of the nuclear exosome targeting (NEXT) complex composed of MTREX, ZCCHC8, and RBM7 that directs a subset of non-coding short-lived RNAs for exosomal degradation (PubMed:27905398, PubMed:27871484).

Interacts with proteins involved in RNA processing and degradation such as MTREX and RBM7; interaction with MTREX enhances MTREX RNA helicase activity and bridges between RBM7 and MTREX (PubMed:16263084, PubMed:27905398, PubMed:27871484).

Interacts with TERC, the telomerase RNA component (PubMed:31488579).

5 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		120739, 82 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q6NZY4

Protein interaction database and analysis system

More...IntActi		Q6NZY4, 45 interactors

Molecular INTeraction database

More...MINTi		Q6NZY4

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000438993

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q6NZY4, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1707
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q6NZY4

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni286 – 299RBM7 bindingCombined sources1 PublicationAdd BLAST14
Regioni309 – 324RBM7 bindingCombined sources1 PublicationAdd BLAST16
Regioni659 – 707MTREX bindingCombined sources1 PublicationAdd BLAST49

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili45 – 80Sequence analysisAdd BLAST36
Coiled coili516 – 539Sequence analysisAdd BLAST24

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi466 – 501Pro-richPROSITE-ProRule annotationAdd BLAST36

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The C-terminal part (659-707) contributes to MTREX RNA helicase activity, in part, by enhancing its RNA-dependent ATPase activity.1 Publication

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the ZCCHC8 family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri227 – 244CCHC-typePROSITE-ProRule annotationAdd BLAST18

Keywords - Domaini

Coiled coil, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2673, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000011475

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q6NZY4

KEGG Orthology (KO)

More...KOi		K13128

Identification of Orthologs from Complete Genome Data

More...OMAi		EDHQMKD

Database of Orthologous Groups

More...OrthoDBi		338817at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q6NZY4

TreeFam database of animal gene trees

More...TreeFami		TF321837

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR006568, PSP_pro-rich
IPR001878, Znf_CCHC

Pfam protein domain database

More...Pfami		View protein in Pfam
PF04046, PSP, 1 hit
PF00098, zf-CCHC, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00581, PSP, 1 hit
SM00343, ZnF_C2HC, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50158, ZF_CCHC, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q6NZY4-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAAEVYFGDL ELFEPFDHPE ESIPKPVHTR FKDDDGDEED ENGVGDAELR 
        60         70         80         90        100
ERLRQCEETI EQLRAENQEL KRKLNILTRP SGILVNDTKL DGPILQILFM 
       110        120        130        140        150
NNAISKQYHQ EIEEFVSNLV KRFEEQQKND VEKTSFNLLP QPSSIVLEED 
       160        170        180        190        200
HKVEESCAIK NNKEAFSVVG SVLYFTNFCL DKLGQPLLNE NPQLSEGWEI 
       210        220        230        240        250
PKYHQVFSHI VSLEGQEIQV KAKRPKPHCF NCGSEEHQMK DCPMPRNAAR 
       260        270        280        290        300
ISEKRKEYMD ACGEANNQNF QQRYHAEEVE ERFGRFKPGV ISEELQDALG 
       310        320        330        340        350
VTDKSLPPFI YRMRQLGYPP GWLKEAELEN SGLALYDGKD GTDGETEVGE 
       360        370        380        390        400
IQQNKSVTYD LSKLVNYPGF NISTPRGIPD EWRIFGSIPM QACQQKDVFA 
       410        420        430        440        450
NYLTSNFQAP GVKSGNKRSS SHSSPGSPKK QKNESNSAGS PADMELDSDM 
       460        470        480        490        500
EVPHGSQSSE SFQFQPPLPP DTPPLPRGTP PPVFTPPLPK GTPPLTPSDS 
       510        520        530        540        550
PQTRTASGAV DEDALTLEEL EEQQRRIWAA LEQAESVNSD SDVPVDTPLT 
       560        570        580        590        600
GNSVASSPCP NELDLPVPEG KTSEKQTLDE PEVPEIFTKK SEAGHASSPD 
       610        620        630        640        650
SEVTSLCQKE KAELAPVNTE GALLDNGSVV PNCDISNGGS QKLFPADTSP 
       660        670        680        690        700
STATKIHSPI PDMSKFATGI TPFEFENMAE STGMYLRIRS LLKNSPRNQQ 

KNKKASE
Length:707
Mass (Da):78,577
Last modified:May 10, 2005 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i7BE6E30F919A4771
GO
Isoform 2 (identifier: Q6NZY4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-238: Missing.

Show »
Length:469
Mass (Da):51,130
Checksum:i891FCBBB70026D4C
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5GX80F5GX80_HUMAN
Zinc finger CCHC domain-containing ...
ZCCHC8
211Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H6J5F5H6J5_HUMAN
Zinc finger CCHC domain-containing ...
ZCCHC8
185Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5GYI9F5GYI9_HUMAN
Zinc finger CCHC domain-containing ...
ZCCHC8
38Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti20E → G in BAB55308 (PubMed:14702039).Curated1
Sequence conflicti216 – 219QEIQ → DAWV in AAH17704 (PubMed:15489334).Curated4
Sequence conflicti326A → V in AAH65918 (PubMed:15489334).Curated1
Sequence conflicti461S → G in BAB55308 (PubMed:14702039).Curated1
Sequence conflicti582E → G in BAC11105 (PubMed:14702039).Curated1
Sequence conflicti663M → V in CAB75658 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_083448186P → L in PFBMFT5; decreased levels of mature TERC in patient cells consistent with impaired function in RNA processing; decreased levels of mutant protein in patient cells. 1 Publication1
Natural variantiVAR_034585672P → A. Corresponds to variant dbSNP:rs1063155Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0137171 – 238Missing in isoform 2. 1 PublicationAdd BLAST238

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AK027702 mRNA Translation: BAB55308.1
AK074638 mRNA Translation: BAC11105.1
AL157433 mRNA Translation: CAB75657.1
AL157434 mRNA Translation: CAB75658.1
BC017704 mRNA Translation: AAH17704.2
BC065918 mRNA Translation: AAH65918.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS86340.1 [Q6NZY4-2]

Protein sequence database of the Protein Information Resource

More...PIRi		T46929
T46930

NCBI Reference Sequences

More...RefSeqi		NP_060082.2, NM_017612.4 [Q6NZY4-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000536306; ENSP00000441423; ENSG00000033030 [Q6NZY4-2]
ENST00000543897; ENSP00000438993; ENSG00000033030 [Q6NZY4-2]
ENST00000633063; ENSP00000488055; ENSG00000033030 [Q6NZY4-1]
ENST00000672018; ENSP00000500728; ENSG00000033030 [Q6NZY4-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		55596

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:55596

UCSC genome browser

More...UCSCi		uc009zxp.4, human [Q6NZY4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK027702 mRNA Translation: BAB55308.1
AK074638 mRNA Translation: BAC11105.1
AL157433 mRNA Translation: CAB75657.1
AL157434 mRNA Translation: CAB75658.1
BC017704 mRNA Translation: AAH17704.2
BC065918 mRNA Translation: AAH65918.1
CCDSiCCDS86340.1 [Q6NZY4-2]
PIRiT46929
T46930
RefSeqiNP_060082.2, NM_017612.4 [Q6NZY4-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5LXRX-ray2.00B285-324[»]
5LXYX-ray2.85C/D/F/H/J/L/N285-324[»]
6C90X-ray2.20B659-707[»]
SMRiQ6NZY4
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi120739, 82 interactors
CORUMiQ6NZY4
IntActiQ6NZY4, 45 interactors
MINTiQ6NZY4
STRINGi9606.ENSP00000438993

PTM databases

iPTMnetiQ6NZY4
PhosphoSitePlusiQ6NZY4

Polymorphism and mutation databases

BioMutaiZCCHC8
DMDMi66774213

Proteomic databases

CPTACiCPTAC-1021
EPDiQ6NZY4
jPOSTiQ6NZY4
MassIVEiQ6NZY4
MaxQBiQ6NZY4
PaxDbiQ6NZY4
PeptideAtlasiQ6NZY4
PRIDEiQ6NZY4
ProteomicsDBi66798 [Q6NZY4-1]
66799 [Q6NZY4-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		31655, 106 antibodies

Genome annotation databases

EnsembliENST00000536306; ENSP00000441423; ENSG00000033030 [Q6NZY4-2]
ENST00000543897; ENSP00000438993; ENSG00000033030 [Q6NZY4-2]
ENST00000633063; ENSP00000488055; ENSG00000033030 [Q6NZY4-1]
ENST00000672018; ENSP00000500728; ENSG00000033030 [Q6NZY4-1]
GeneIDi55596
KEGGihsa:55596
UCSCiuc009zxp.4, human [Q6NZY4-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		55596
DisGeNETi55596
EuPathDBiHostDB:ENSG00000033030.13

GeneCards: human genes, protein and diseases

More...GeneCardsi		ZCCHC8
HGNCiHGNC:25265, ZCCHC8
HPAiENSG00000033030, Low tissue specificity
MalaCardsiZCCHC8
MIMi616381, gene
618674, phenotype
neXtProtiNX_Q6NZY4
OpenTargetsiENSG00000033030
PharmGKBiPA134889410

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2673, Eukaryota
GeneTreeiENSGT00390000011475
InParanoidiQ6NZY4
KOiK13128
OMAiEDHQMKD
OrthoDBi338817at2759
PhylomeDBiQ6NZY4
TreeFamiTF321837

Enzyme and pathway databases

PathwayCommonsiQ6NZY4

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		55596, 9 hits in 144 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		ZCCHC8, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		ZCCHC8

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		55596
PharosiQ6NZY4, Tdark

Protein Ontology

More...PROi		PR:Q6NZY4
RNActiQ6NZY4, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000033030, Expressed in cervix squamous epithelium and 229 other tissues
ExpressionAtlasiQ6NZY4, baseline and differential
GenevisibleiQ6NZY4, HS

Family and domain databases

InterProiView protein in InterPro
IPR006568, PSP_pro-rich
IPR001878, Znf_CCHC
PfamiView protein in Pfam
PF04046, PSP, 1 hit
PF00098, zf-CCHC, 1 hit
SMARTiView protein in SMART
SM00581, PSP, 1 hit
SM00343, ZnF_C2HC, 1 hit
PROSITEiView protein in PROSITE
PS50158, ZF_CCHC, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiZCHC8_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q6NZY4
Secondary accession number(s): Q7L2P6
, Q8N2K5, Q96SK7, Q9NSS2, Q9NSS3
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 10, 2005
Last sequence update: May 10, 2005
Last modified: August 12, 2020
This is version 161 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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