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UniProtKB - Q6UX04 (CWC27_HUMAN)

Entry version 159 (02 Dec 2020)
Sequence version 1 (05 Jul 2004)
Previous versions | rss
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Protein

Spliceosome-associated protein CWC27 homolog

Gene

CWC27

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

As part of the spliceosome, plays a role in pre-mRNA splicing (PubMed:29360106). Probable inactive PPIase with no peptidyl-prolyl cis-trans isomerase activity (PubMed:20676357).2 Publications

Caution

Despite the fact that it belongs to the cyclophilin-type PPIase family, a report has shown that it has probably no peptidyl-prolyl cis-trans isomerase activity.1 Publication

<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 - Biological processi

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		5.2.1.8, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q6UX04

Reactome - a knowledgebase of biological pathways and processes

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

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q6UX04

<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:
Spliceosome-associated protein CWC27 homologCurated
Alternative name(s):
Antigen NY-CO-101 Publication
Probable inactive peptidyl-prolyl cis-trans isomerase CWC27 homolog1 Publication
Short name:
PPIase CWC271 Publication
Serologically defined colon cancer antigen 10
<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:CWC27Imported
Synonyms:SDCCAG101 Publication
ORF Names:UNQ438/PRO8711 Publication
<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 5

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000153015.15

Human Gene Nomenclature Database

More...HGNCi		HGNC:10664, CWC27

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		617170, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q6UX04

<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

<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>Keywords - Cellular componenti

Nucleus

<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

Retinitis pigmentosa with or without skeletal anomalies (RPSKA)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disease characterized by retinal degeneration, brachydactyly, short stature, craniofacial dysmorphism, and neurologic defects. Retinal defects are consistent with retinitis pigmentosa in most patients. Neurologic manifestations include mild-to-moderate intellectual disability and psychomotor retardation.
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_0789817 – 472Missing in RPSKA. 1 PublicationAdd BLAST466
Natural variantiVAR_078982143 – 472Missing in RPSKA. 1 PublicationAdd BLAST330
Natural variantiVAR_078983206 – 472Missing in RPSKA. 1 PublicationAdd BLAST267
Natural variantiVAR_078984315 – 472Missing in RPSKA. 1 PublicationAdd BLAST158

Keywords - Diseasei

Disease mutation, Dwarfism, Mental retardation, Retinitis pigmentosa

Organism-specific databases

DisGeNET

More...DisGeNETi		10283

MalaCards human disease database

More...MalaCardsi		CWC27
MIMi250410, phenotype

Open Targets

More...OpenTargetsi		ENSG00000153015

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA35594

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q6UX04, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		CWC27

Domain mapping of disease mutations (DMDM)

More...DMDMi		74749411

<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_00003136472 – 472Spliceosome-associated protein CWC27 homologAdd BLAST471

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-acetylserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi109N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi201N-linked (GlcNAc...) asparagine1 Publication1
Modified residuei346PhosphoserineBy similarity1

Keywords - PTMi

Acetylation, Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q6UX04

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q6UX04

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q6UX04

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q6UX04

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

More...PaxDbi		Q6UX04

PeptideAtlas

More...PeptideAtlasi		Q6UX04

PRoteomics IDEntifications database

More...PRIDEi		Q6UX04

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		67545 [Q6UX04-1]
67546 [Q6UX04-2]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q6UX04, 2 sites

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q6UX04

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

More...PhosphoSitePlusi		Q6UX04

<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		ENSG00000153015, Expressed in tendon of biceps brachii and 217 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q6UX04, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q6UX04, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000153015, 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

Part of the activated spliceosome B/catalytic step 1 spliceosome, one of the forms of the spliceosome which has a well-formed active site but still cannot catalyze the branching reaction and is composed at least of 52 proteins, the U2, U5 and U6 snRNAs and the pre-mRNA. Recruited during early steps of activated spliceosome B maturation, it is probably one of the first proteins released from this complex as he matures to the spliceosome C complex.

1 Publication

<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		115572, 28 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q6UX04

Protein interaction database and analysis system

More...IntActi		Q6UX04, 14 interactors

Molecular INTeraction database

More...MINTi		Q6UX04

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000370460

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q6UX04, 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

1472
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		Q6UX04

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q6UX04

<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>Domaini11 – 166PPIase cyclophilin-typePROSITE-ProRule annotationAdd BLAST156

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 coili206 – 230Sequence analysisAdd BLAST25
Coiled coili306 – 377Sequence analysisAdd BLAST72

<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 cyclophilin-type PPIase family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0415, Eukaryota
KOG0885, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000155967

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_012062_14_4_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q6UX04

Identification of Orthologs from Complete Genome Data

More...OMAi		SENHYIN

Database of Orthologous Groups

More...OrthoDBi		1392223at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q6UX04

TreeFam database of animal gene trees

More...TreeFami		TF105935

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.40.100.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR029000, Cyclophilin-like_dom_sf
IPR020892, Cyclophilin-type_PPIase_CS
IPR002130, Cyclophilin-type_PPIase_dom

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00160, Pro_isomerase, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00153, CSAPPISMRASE

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF50891, SSF50891, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00170, CSA_PPIASE_1, 1 hit
PS50072, CSA_PPIASE_2, 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 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q6UX04-1) [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
MSNIYIQEPP TNGKVLLKTT AGDIDIELWS KEAPKACRNF IQLCLEAYYD 
        60         70         80         90        100
NTIFHRVVPG FIVQGGDPTG TGSGGESIYG APFKDEFHSR LRFNRRGLVA 
       110        120        130        140        150
MANAGSHDNG SQFFFTLGRA DELNNKHTIF GKVTGDTVYN MLRLSEVDID 
       160        170        180        190        200
DDERPHNPHK IKSCEVLFNP FDDIIPREIK RLKKEKPEEE VKKLKPKGTK 
       210        220        230        240        250
NFSLLSFGEE AEEEEEEVNR VSQSMKGKSK SSHDLLKDDP HLSSVPVVES 
       260        270        280        290        300
EKGDAPDLVD DGEDESAEHD EYIDGDEKNL MRERIAKKLK KDTSANVKSA 
       310        320        330        340        350
GEGEVEKKSV SRSEELRKEA RQLKRELLAA KQKKVENAAK QAEKRSEEEE 
       360        370        380        390        400
APPDGAVAEY RREKQKYEAL RKQQSKKGTS REDQTLALLN QFKSKLTQAI 
       410        420        430        440        450
AETPENDIPE TEVEDDEGWM SHVLQFEDKS RKVKDASMQD SDTFEIYDPR 
       460        470 
NPVNKRRREE SKKLMREKKE RR
Length:472
Mass (Da):53,847
Last modified:July 5, 2004 - v1
<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:iBB0102157083439D
GO
Isoform 2 (identifier: Q6UX04-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     385-391: TLALLNQ → DVTCTS
     392-472: Missing.

Show »
Length:390
Mass (Da):43,989
Checksum:i29010D816F06A71E
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
D6REK3D6REK3_HUMAN
Spliceosome-associated protein CWC2...
CWC27
381Annotation 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 AAC18041 differs from that shown. Reason: Frameshift.Curated
The sequence AAC18042 differs from that shown. Reason: Frameshift.Curated
The sequence AAH12117 differs from that shown. Reason: Erroneous initiation.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 conflicti111 – 112SQ → TH in AAC18041 (PubMed:9610721).Curated2
Sequence conflicti331K → E in AAC18042 (PubMed:9610721).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0789817 – 472Missing in RPSKA. 1 PublicationAdd BLAST466
Natural variantiVAR_078982143 – 472Missing in RPSKA. 1 PublicationAdd BLAST330
Natural variantiVAR_078983206 – 472Missing in RPSKA. 1 PublicationAdd BLAST267
Natural variantiVAR_037686256P → A1 PublicationCorresponds to variant dbSNP:rs7735338Ensembl.1
Natural variantiVAR_078984315 – 472Missing in RPSKA. 1 PublicationAdd BLAST158

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_030082385 – 391TLALLNQ → DVTCTS in isoform 2. 1 Publication7
Alternative sequenceiVSP_030083392 – 472Missing in isoform 2. 1 PublicationAdd BLAST81

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
AF039692 mRNA Translation: AAC18041.1 Frameshift.
AF039693 mRNA Translation: AAC18042.1 Frameshift.
AY358569 mRNA Translation: AAQ88932.1
CH471137 Genomic DNA Translation: EAW51365.1
BC012117 mRNA Translation: AAH12117.1 Different initiation.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS3982.2 [Q6UX04-1]

NCBI Reference Sequences

More...RefSeqi		NP_001284573.1, NM_001297644.1
NP_001284574.1, NM_001297645.1
NP_005860.2, NM_005869.3 [Q6UX04-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000381070; ENSP00000370460; ENSG00000153015 [Q6UX04-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		10283

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:10283

UCSC genome browser

More...UCSCi		uc003jtn.2, human [Q6UX04-1]

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
AF039692 mRNA Translation: AAC18041.1 Frameshift.
AF039693 mRNA Translation: AAC18042.1 Frameshift.
AY358569 mRNA Translation: AAQ88932.1
CH471137 Genomic DNA Translation: EAW51365.1
BC012117 mRNA Translation: AAH12117.1 Different initiation.
CCDSiCCDS3982.2 [Q6UX04-1]
RefSeqiNP_001284573.1, NM_001297644.1
NP_001284574.1, NM_001297645.1
NP_005860.2, NM_005869.3 [Q6UX04-1]

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
2HQ6X-ray1.75A8-173[»]
4R3EX-ray2.00A1-178[»]
5Z56electron microscopy5.10z1-472[»]
5Z58electron microscopy4.90z1-472[»]
6FF4electron microscopy16.00s1-472[»]
6FF7electron microscopy4.50s1-472[»]
6YVHX-ray3.19C/E/G/I378-431[»]
SMRiQ6UX04
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi115572, 28 interactors
CORUMiQ6UX04
IntActiQ6UX04, 14 interactors
MINTiQ6UX04
STRINGi9606.ENSP00000370460

PTM databases

GlyGeniQ6UX04, 2 sites
iPTMnetiQ6UX04
PhosphoSitePlusiQ6UX04

Polymorphism and mutation databases

BioMutaiCWC27
DMDMi74749411

Proteomic databases

EPDiQ6UX04
jPOSTiQ6UX04
MassIVEiQ6UX04
MaxQBiQ6UX04
PaxDbiQ6UX04
PeptideAtlasiQ6UX04
PRIDEiQ6UX04
ProteomicsDBi67545 [Q6UX04-1]
67546 [Q6UX04-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		11511, 145 antibodies

Genome annotation databases

EnsembliENST00000381070; ENSP00000370460; ENSG00000153015 [Q6UX04-1]
GeneIDi10283
KEGGihsa:10283
UCSCiuc003jtn.2, human [Q6UX04-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		10283
DisGeNETi10283
EuPathDBiHostDB:ENSG00000153015.15

GeneCards: human genes, protein and diseases

More...GeneCardsi		CWC27
HGNCiHGNC:10664, CWC27
HPAiENSG00000153015, Low tissue specificity
MalaCardsiCWC27
MIMi250410, phenotype
617170, gene
neXtProtiNX_Q6UX04
OpenTargetsiENSG00000153015
PharmGKBiPA35594

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0415, Eukaryota
KOG0885, Eukaryota
GeneTreeiENSGT00940000155967
HOGENOMiCLU_012062_14_4_1
InParanoidiQ6UX04
OMAiSENHYIN
OrthoDBi1392223at2759
PhylomeDBiQ6UX04
TreeFamiTF105935

Enzyme and pathway databases

BRENDAi5.2.1.8, 2681
PathwayCommonsiQ6UX04
ReactomeiR-HSA-72163, mRNA Splicing - Major Pathway
SIGNORiQ6UX04

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		10283, 184 hits in 848 CRISPR screens

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

More...ChiTaRSi		CWC27, human
EvolutionaryTraceiQ6UX04

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

More...GenomeRNAii		10283
PharosiQ6UX04, Tbio

Protein Ontology

More...PROi		PR:Q6UX04
RNActiQ6UX04, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000153015, Expressed in tendon of biceps brachii and 217 other tissues
ExpressionAtlasiQ6UX04, baseline and differential
GenevisibleiQ6UX04, HS

Family and domain databases

Gene3Di2.40.100.10, 1 hit
InterProiView protein in InterPro
IPR029000, Cyclophilin-like_dom_sf
IPR020892, Cyclophilin-type_PPIase_CS
IPR002130, Cyclophilin-type_PPIase_dom
PfamiView protein in Pfam
PF00160, Pro_isomerase, 1 hit
PRINTSiPR00153, CSAPPISMRASE
SUPFAMiSSF50891, SSF50891, 1 hit
PROSITEiView protein in PROSITE
PS00170, CSA_PPIASE_1, 1 hit
PS50072, CSA_PPIASE_2, 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 nameiCWC27_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: Q6UX04
Secondary accession number(s): O60529, O60530, Q96EM3
<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: January 15, 2008
Last sequence update: July 5, 2004
Last modified: December 2, 2020
This is version 159 of the entry and version 1 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 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. SIMILARITY comments
    Index of protein domains and families
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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