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Protein

Spliceosome-associated protein CWC27 homolog

Gene

CWC27

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

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

Names & Taxonomyi

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
Gene namesi
Name:CWC27Imported
Synonyms:SDCCAG101 Publication
ORF Names:UNQ438/PRO8711 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000153015.15
HGNCiHGNC:10664 CWC27
MIMi617170 gene
neXtProtiNX_Q6UX04

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; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

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.
See also OMIM:250410
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_078984315 – 472Missing in RPSKA. 1 PublicationAdd BLAST158

Keywords - Diseasei

Disease mutation, Dwarfism, Mental retardation, Retinitis pigmentosa

Organism-specific databases

DisGeNETi10283
MalaCardsiCWC27
MIMi250410 phenotype
OpenTargetsiENSG00000153015
PharmGKBiPA35594

Polymorphism and mutation databases

BioMutaiCWC27
DMDMi74749411

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00003136472 – 472Spliceosome-associated protein CWC27 homologAdd BLAST471

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylserineCombined sources1
Glycosylationi109N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi201N-linked (GlcNAc...) asparagine1 Publication1
Modified residuei346PhosphoserineBy similarity1

Keywords - PTMi

Acetylation, Glycoprotein, Phosphoprotein

Proteomic databases

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

PTM databases

iPTMnetiQ6UX04
PhosphoSitePlusiQ6UX04

Expressioni

Gene expression databases

BgeeiENSG00000153015
CleanExiHS_SDCCAG10
ExpressionAtlasiQ6UX04 baseline and differential
GenevisibleiQ6UX04 HS

Organism-specific databases

HPAiHPA020344
HPA024149
HPA065809

Interactioni

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

Protein-protein interaction databases

BioGridi115572, 20 interactors
CORUMiQ6UX04
IntActiQ6UX04, 7 interactors
MINTiQ6UX04
STRINGi9606.ENSP00000370460

Structurei

Secondary structure

1472
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi14 – 19Combined sources6
Beta strandi22 – 29Combined sources8
Turni30 – 32Combined sources3
Helixi34 – 45Combined sources12
Turni46 – 51Combined sources6
Beta strandi56 – 58Combined sources3
Turni59 – 61Combined sources3
Beta strandi62 – 65Combined sources4
Beta strandi70 – 73Combined sources4
Beta strandi95 – 101Combined sources7
Beta strandi113 – 118Combined sources6
Helixi121 – 123Combined sources3
Turni124 – 126Combined sources3
Beta strandi129 – 133Combined sources5
Helixi135 – 137Combined sources3
Helixi138 – 143Combined sources6
Helixi151 – 153Combined sources3
Beta strandi155 – 157Combined sources3
Beta strandi160 – 168Combined sources9

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2HQ6X-ray1.75A8-173[»]
4R3EX-ray2.00A1-178[»]
ProteinModelPortaliQ6UX04
SMRiQ6UX04
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ6UX04

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini11 – 166PPIase cyclophilin-typePROSITE-ProRule annotationAdd BLAST156

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili206 – 230Sequence analysisAdd BLAST25
Coiled coili306 – 377Sequence analysisAdd BLAST72

Sequence similaritiesi

Belongs to the cyclophilin-type PPIase family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG0885 Eukaryota
COG0652 LUCA
GeneTreeiENSGT00760000119072
HOGENOMiHOG000161443
HOVERGENiHBG097993
InParanoidiQ6UX04
KOiK12737
OMAiSENHYIN
OrthoDBiEOG091G0BVF
PhylomeDBiQ6UX04
TreeFamiTF105935

Family and domain databases

Gene3Di2.40.100.10, 1 hit
InterProiView protein in InterPro
IPR029000 Cyclophilin-like_dom_sf
IPR024936 Cyclophilin-type_PPIase
IPR020892 Cyclophilin-type_PPIase_CS
IPR002130 Cyclophilin-type_PPIase_dom
PANTHERiPTHR11071 PTHR11071, 2 hits
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

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6UX04-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
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

Sequence cautioni

The sequence AAC18041 differs from that shown. Reason: Frameshift at position 41.Curated
The sequence AAC18042 differs from that shown. Reason: Frameshift at position 136.Curated
The sequence AAH12117 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
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:
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]
UniGeneiHs.371372

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCWC27_HUMAN
AccessioniPrimary (citable) accession number: Q6UX04
Secondary accession number(s): O60529, O60530, Q96EM3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: July 5, 2004
Last modified: June 20, 2018
This is version 138 of the entry and version 1 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: 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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