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UniProtKB - Q9HCG8 (CWC22_HUMAN)

Entry version 145 (07 Oct 2020)
Sequence version 3 (18 May 2010)
Previous versions | rss
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Protein

Pre-mRNA-splicing factor CWC22 homolog

Gene

CWC22

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

Required for pre-mRNA splicing as component of the spliceosome (PubMed:12226669, PubMed:11991638, PubMed:22961380, PubMed:28502770, PubMed:28076346, PubMed:29360106, PubMed:29301961). Promotes exon-junction complex (EJC) assembly (PubMed:22959432, PubMed:22961380). Hinders EIF4A3 from non-specifically binding RNA and escorts it to the splicing machinery to promote EJC assembly on mature mRNAs. Through its role in EJC assembly, required for nonsense-mediated mRNA decay.9 Publications

<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

  • RNA binding Source: UniProtKB
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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9HCG8

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-72163, mRNA Splicing - Major Pathway

<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:
Pre-mRNA-splicing factor CWC22 homolog
Alternative name(s):
Nucampholin homolog
fSAPb
<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:CWC22
Synonyms:KIAA1604, NCM
<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 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000163510.13

Human Gene Nomenclature Database

More...HGNCi		HGNC:29322, CWC22

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		615186, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9HCG8

<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

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>Mutagenesisi168G → Y: No effect on EIF4A3 incorporation into EJCs. 1 Publication1
Mutagenesisi171 – 174NKVN → AAVA: Loss of EIF4A3-binding. 4
Mutagenesisi171 – 172NK → DE: Loss of EIF4A3-binding. 1 Publication2
Mutagenesisi331R → A: Decreased EIF4A3-binding; when associated with A-334. 1 Publication1
Mutagenesisi334Y → A: Decreased EIF4A3-binding; when associated with A-331. 1 Publication1

Organism-specific databases

DisGeNET

More...DisGeNETi		57703

Open Targets

More...OpenTargetsi		ENSG00000163510

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA164718415

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9HCG8, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		CWC22

Domain mapping of disease mutations (DMDM)

More...DMDMi		296439380

<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 '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_00003020051 – 908Pre-mRNA-splicing factor CWC22 homologAdd BLAST908

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 residuei39PhosphoserineCombined sources1
Modified residuei61PhosphoserineCombined sources1
Modified residuei107PhosphoserineBy similarity1
Modified residuei786PhosphoserineCombined sources1
Modified residuei829PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9HCG8

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9HCG8

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9HCG8

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9HCG8

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

More...PaxDbi		Q9HCG8

PeptideAtlas

More...PeptideAtlasi		Q9HCG8

PRoteomics IDEntifications database

More...PRIDEi		Q9HCG8

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		81712

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9HCG8

MetOSite database of methionine sulfoxide sites

More...MetOSitei		Q9HCG8

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

More...PhosphoSitePlusi		Q9HCG8

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000163510, Expressed in epithelial cell of pancreas and 215 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9HCG8, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9HCG8, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000163510, 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 the pre-catalytic spliceosome B and the catalytic spliceosome C complexes (PubMed:11991638, PubMed:22961380, PubMed:28502770, PubMed:28076346, PubMed:29360106, PubMed:29301961).

Interacts with EIF4A3 and PRPF19 in an RNA-independent manner. Direct interaction with EIF4A3 is mediated by the MIF4G domain (PubMed:24218557). Full interaction with EIF4A3 occurs only when EIF4A3 is not part of the EJC and prevents EIF4A3 binding to RNA.

10 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

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		121727, 60 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q9HCG8

Database of interacting proteins

More...DIPi		DIP-31268N

Protein interaction database and analysis system

More...IntActi		Q9HCG8, 38 interactors

Molecular INTeraction database

More...MINTi		Q9HCG8

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000387006

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9HCG8, 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

1908
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		Q9HCG8

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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini163 – 346MIF4GPROSITE-ProRule annotationAdd BLAST184
Domaini454 – 570MIPROSITE-ProRule annotationAdd BLAST117

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 biasi16 – 97Arg-richAdd BLAST82
Compositional biasi116 – 119Poly-Lys4
Compositional biasi423 – 438Poly-GluAdd BLAST16
Compositional biasi666 – 713Ser-richAdd BLAST48

<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 CWC22 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2140, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000153458

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9HCG8

KEGG Orthology (KO)

More...KOi		K13100

Identification of Orthologs from Complete Genome Data

More...OMAi		DALGWHC

Database of Orthologous Groups

More...OrthoDBi		996017at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9HCG8

TreeFam database of animal gene trees

More...TreeFami		TF300510

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.25.40.180, 1 hit

Intrinsically Disordered proteins with Extensive Annotations and Literature

More...IDEALi		IID00595

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR016024, ARM-type_fold
IPR003891, Initiation_fac_eIF4g_MI
IPR016021, MIF4-like_sf
IPR003890, MIF4G-like_typ-3

Pfam protein domain database

More...Pfami		View protein in Pfam
PF02847, MA3, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00544, MA3, 1 hit
SM00543, MIF4G, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48371, SSF48371, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51366, MI, 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>Sequence (1+)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.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q9HCG8-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MKSSVAQIKP SSGHDRRENL NSYQRNSSPE DRYEEQERSP RDRDYFDYSR 
        60         70         80         90        100
SDYEHSRRGR SYDSSMESRN RDREKRRERE RDTDRKRSRK SPSPGRRNPE 
       110        120        130        140        150
TSVTQSSSAQ DEPATKKKKD ELDPLLTRTG GAYIPPAKLR MMQEQITDKN 
       160        170        180        190        200
SLAYQRMSWE ALKKSINGLI NKVNISNISI IIQELLQENI VRGRGLLSRS 
       210        220        230        240        250
VLQAQSASPI FTHVYAALVA IINSKFPQIG ELILKRLILN FRKGYRRNDK 
       260        270        280        290        300
QLCLTASKFV AHLINQNVAH EVLCLEMLTL LLERPTDDSV EVAIGFLKEC 
       310        320        330        340        350
GLKLTQVSPR GINAIFERLR NILHESEIDK RVQYMIEVMF AVRKDGFKDH 
       360        370        380        390        400
PIILEGLDLV EEDDQFTHML PLEDDYNPED VLNVFKMDPN FMENEEKYKA 
       410        420        430        440        450
IKKEILDEGD TDSNTDQDAG SSEEDEEEEE EEGEEDEEGQ KVTIHDKTEI 
       460        470        480        490        500
NLVSFRRTIY LAIQSSLDFE ECAHKLLKME FPESQTKELC NMILDCCAQQ 
       510        520        530        540        550
RTYEKFFGLL AGRFCMLKKE YMESFEGIFK EQYDTIHRLE TNKLRNVAKM 
       560        570        580        590        600
FAHLLYTDSL PWSVLECIKL SEETTTSSSR IFVKIFFQEL CEYMGLPKLN 
       610        620        630        640        650
ARLKDETLQP FFEGLLPRDN PRNTRFAINF FTSIGLGGLT DELREHLKNT 
       660        670        680        690        700
PKVIVAQKPD VEQNKSSPSS SSSASSSSES DSSDSDSDSS DSSSESSSEE 
       710        720        730        740        750
SDSSSISSHS SASANDVRKK GHGKTRSKEV DKLIRNQQTN DRKQKERRQE 
       760        770        780        790        800
HGHQETRTER ERRSEKHRDQ NSSGSNWRDP ITKYTSDKDV PSERNNYSRV 
       810        820        830        840        850
ANDRDQEMHI DLENKHGDPK KKRGERRNSF SENEKHTHRI KDSENFRRKD 
       860        870        880        890        900
RSKSKEMNRK HSGSRSDEDR YQNGAERRWE KSSRYSEQSR ESKKNQDRRR 

EKSPAKQK
Length:908
Mass (Da):105,466
Last modified:May 18, 2010 - v3
<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:i00EF9B361B5F55AB
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B7WP74B7WP74_HUMAN
Pre-mRNA-splicing factor CWC22 homo...
CWC22
745Annotation 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>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH16651 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence AAH31216 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence AAH57826 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence BAB13430 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence BAB15197 differs from that shown. Reason: Frameshift.Curated
The sequence BAB15612 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

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 conflicti270H → Y in BAB15197 (PubMed:14702039).Curated1
Sequence conflicti550M → V in BAB15197 (PubMed:14702039).Curated1
Sequence conflicti613E → G in AAH31216 (PubMed:15489334).Curated1
Sequence conflicti685S → F in AAH16651 (PubMed:15489334).Curated1
Sequence conflicti701S → G in AAH31216 (PubMed:15489334).Curated1
Sequence conflicti742R → K in AAH31216 (PubMed:15489334).Curated1
Sequence conflicti773S → R in BAB15612 (PubMed:14702039).Curated1
Sequence conflicti773S → R in AAH53573 (PubMed:15489334).Curated1
Sequence conflicti773S → R in AAH93952 (PubMed:15489334).Curated1
Sequence conflicti773S → R in AAH93954 (PubMed:15489334).Curated1

Natural variant

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_057513656A → V. Corresponds to variant dbSNP:rs17778270Ensembl.1
Natural variantiVAR_057514741D → V. Corresponds to variant dbSNP:rs11903115EnsemblClinVar.1
Natural variantiVAR_057515794R → Q. Corresponds to variant dbSNP:rs1046356Ensembl.1

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
AB046824 mRNA Translation: BAB13430.1 Different initiation.
AK025635 mRNA Translation: BAB15197.1 Frameshift.
AK026978 mRNA Translation: BAB15612.1 Different initiation.
AC068194 Genomic DNA No translation available.
AC096587 Genomic DNA No translation available.
BC016651 mRNA Translation: AAH16651.1 Sequence problems.
BC031216 mRNA Translation: AAH31216.1 Sequence problems.
BC053573 mRNA Translation: AAH53573.1
BC057826 mRNA Translation: AAH57826.1 Sequence problems.
BC093952 mRNA Translation: AAH93952.1
BC093954 mRNA Translation: AAH93954.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS46465.1

NCBI Reference Sequences

More...RefSeqi		NP_065994.1, NM_020943.2
XP_005246783.1, XM_005246726.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000410053; ENSP00000387006; ENSG00000163510

Database of genes from NCBI RefSeq genomes

More...GeneIDi		57703

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:57703

UCSC genome browser

More...UCSCi		uc010frh.2, human

Keywords - Coding sequence diversityi

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
AB046824 mRNA Translation: BAB13430.1 Different initiation.
AK025635 mRNA Translation: BAB15197.1 Frameshift.
AK026978 mRNA Translation: BAB15612.1 Different initiation.
AC068194 Genomic DNA No translation available.
AC096587 Genomic DNA No translation available.
BC016651 mRNA Translation: AAH16651.1 Sequence problems.
BC031216 mRNA Translation: AAH31216.1 Sequence problems.
BC053573 mRNA Translation: AAH53573.1
BC057826 mRNA Translation: AAH57826.1 Sequence problems.
BC093952 mRNA Translation: AAH93952.1
BC093954 mRNA Translation: AAH93954.1
CCDSiCCDS46465.1
RefSeqiNP_065994.1, NM_020943.2
XP_005246783.1, XM_005246726.2

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
4C9BX-ray2.00B116-406[»]
5MQFelectron microscopy5.90T1-908[»]
5XJCelectron microscopy3.60V1-908[»]
5YZGelectron microscopy4.10V1-908[»]
5Z56electron microscopy5.10V1-908[»]
5Z57electron microscopy6.50V1-908[»]
5Z58electron microscopy4.90V1-908[»]
6FF7electron microscopy4.50T1-908[»]
6ICZelectron microscopy3.00V1-908[»]
6QDVelectron microscopy3.30H1-908[»]
6YVHX-ray3.19A/B/D/F119-406[»]
SMRiQ9HCG8
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi121727, 60 interactors
CORUMiQ9HCG8
DIPiDIP-31268N
IntActiQ9HCG8, 38 interactors
MINTiQ9HCG8
STRINGi9606.ENSP00000387006

PTM databases

iPTMnetiQ9HCG8
MetOSiteiQ9HCG8
PhosphoSitePlusiQ9HCG8

Polymorphism and mutation databases

BioMutaiCWC22
DMDMi296439380

Proteomic databases

EPDiQ9HCG8
jPOSTiQ9HCG8
MassIVEiQ9HCG8
MaxQBiQ9HCG8
PaxDbiQ9HCG8
PeptideAtlasiQ9HCG8
PRIDEiQ9HCG8
ProteomicsDBi81712

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		33977, 144 antibodies

Genome annotation databases

EnsembliENST00000410053; ENSP00000387006; ENSG00000163510
GeneIDi57703
KEGGihsa:57703
UCSCiuc010frh.2, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		57703
DisGeNETi57703
EuPathDBiHostDB:ENSG00000163510.13

GeneCards: human genes, protein and diseases

More...GeneCardsi		CWC22
HGNCiHGNC:29322, CWC22
HPAiENSG00000163510, Low tissue specificity
MIMi615186, gene
neXtProtiNX_Q9HCG8
OpenTargetsiENSG00000163510
PharmGKBiPA164718415

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2140, Eukaryota
GeneTreeiENSGT00940000153458
InParanoidiQ9HCG8
KOiK13100
OMAiDALGWHC
OrthoDBi996017at2759
PhylomeDBiQ9HCG8
TreeFamiTF300510

Enzyme and pathway databases

PathwayCommonsiQ9HCG8
ReactomeiR-HSA-72163, mRNA Splicing - Major Pathway

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		57703, 745 hits in 880 CRISPR screens

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

More...ChiTaRSi		CWC22, human

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

More...GenomeRNAii		57703
PharosiQ9HCG8, Tbio

Protein Ontology

More...PROi		PR:Q9HCG8
RNActiQ9HCG8, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000163510, Expressed in epithelial cell of pancreas and 215 other tissues
ExpressionAtlasiQ9HCG8, baseline and differential
GenevisibleiQ9HCG8, HS

Family and domain databases

Gene3Di1.25.40.180, 1 hit
IDEALiIID00595
InterProiView protein in InterPro
IPR016024, ARM-type_fold
IPR003891, Initiation_fac_eIF4g_MI
IPR016021, MIF4-like_sf
IPR003890, MIF4G-like_typ-3
PfamiView protein in Pfam
PF02847, MA3, 1 hit
SMARTiView protein in SMART
SM00544, MA3, 1 hit
SM00543, MIF4G, 1 hit
SUPFAMiSSF48371, SSF48371, 1 hit
PROSITEiView protein in PROSITE
PS51366, MI, 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 nameiCWC22_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: Q9HCG8
Secondary accession number(s): Q05DC2
, Q4G135, Q52LF0, Q6PEX2, Q7Z6I0, Q9H5L3, Q9H6Q6
<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: September 11, 2007
Last sequence update: May 18, 2010
Last modified: October 7, 2020
This is version 145 of the entry and version 3 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 polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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