UniProtKB - Q6UX04 (CWC27_HUMAN)
Spliceosome-associated protein CWC27 homolog
CWC27
Functioni
Caution
GO - Biological processi
- mRNA splicing, via spliceosome Source: Reactome
- protein folding Source: InterPro
- protein peptidyl-prolyl isomerization Source: GO_Central
Enzyme and pathway databases
BRENDAi | 5.2.1.8, 2681 |
PathwayCommonsi | Q6UX04 |
Reactomei | R-HSA-72163, mRNA Splicing - Major Pathway |
SIGNORi | Q6UX04 |
Names & Taxonomyi
Protein namesi | Recommended name: Spliceosome-associated protein CWC27 homologCuratedAlternative 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 | ORF Names:UNQ438/PRO8711 Publication |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000153015.15 |
HGNCi | HGNC:10664, CWC27 |
MIMi | 617170, gene |
neXtProti | NX_Q6UX04 |
Subcellular locationi
Nucleus
- Nucleus 1 Publication
Nucleus
- catalytic step 2 spliceosome Source: UniProtKB
- nucleoplasm Source: HPA
- U2-type precatalytic spliceosome Source: UniProtKB
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Retinitis pigmentosa with or without skeletal anomalies (RPSKA)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_078981 | 7 – 472 | Missing in RPSKA. 1 PublicationAdd BLAST | 466 | |
Natural variantiVAR_078982 | 143 – 472 | Missing in RPSKA. 1 PublicationAdd BLAST | 330 | |
Natural variantiVAR_078983 | 206 – 472 | Missing in RPSKA. 1 PublicationAdd BLAST | 267 | |
Natural variantiVAR_078984 | 315 – 472 | Missing in RPSKA. 1 PublicationAdd BLAST | 158 |
Keywords - Diseasei
Disease mutation, Dwarfism, Mental retardation, Retinitis pigmentosaOrganism-specific databases
DisGeNETi | 10283 |
MalaCardsi | CWC27 |
MIMi | 250410, phenotype |
OpenTargetsi | ENSG00000153015 |
PharmGKBi | PA35594 |
Miscellaneous databases
Pharosi | Q6UX04, Tbio |
Polymorphism and mutation databases
BioMutai | CWC27 |
DMDMi | 74749411 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedCombined sources | |||
ChainiPRO_0000313647 | 2 – 472 | Spliceosome-associated protein CWC27 homologAdd BLAST | 471 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylserineCombined sources | 1 | |
Glycosylationi | 109 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 201 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Modified residuei | 346 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
Acetylation, Glycoprotein, PhosphoproteinProteomic databases
EPDi | Q6UX04 |
jPOSTi | Q6UX04 |
MassIVEi | Q6UX04 |
MaxQBi | Q6UX04 |
PaxDbi | Q6UX04 |
PeptideAtlasi | Q6UX04 |
PRIDEi | Q6UX04 |
ProteomicsDBi | 67545 [Q6UX04-1] 67546 [Q6UX04-2] |
PTM databases
GlyGeni | Q6UX04, 2 sites |
iPTMneti | Q6UX04 |
PhosphoSitePlusi | Q6UX04 |
Expressioni
Gene expression databases
Bgeei | ENSG00000153015, Expressed in tendon of biceps brachii and 217 other tissues |
ExpressionAtlasi | Q6UX04, baseline and differential |
Genevisiblei | Q6UX04, HS |
Organism-specific databases
HPAi | ENSG00000153015, Low tissue specificity |
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 PublicationBinary interactionsi
Protein-protein interaction databases
BioGRIDi | 115572, 28 interactors |
CORUMi | Q6UX04 |
IntActi | Q6UX04, 14 interactors |
MINTi | Q6UX04 |
STRINGi | 9606.ENSP00000370460 |
Miscellaneous databases
RNActi | Q6UX04, protein |
Structurei
Secondary structure
3D structure databases
SMRi | Q6UX04 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q6UX04 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 11 – 166 | PPIase cyclophilin-typePROSITE-ProRule annotationAdd BLAST | 156 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 206 – 230 | Sequence analysisAdd BLAST | 25 | |
Coiled coili | 306 – 377 | Sequence analysisAdd BLAST | 72 |
Sequence similaritiesi
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | KOG0415, Eukaryota KOG0885, Eukaryota |
GeneTreei | ENSGT00940000155967 |
HOGENOMi | CLU_012062_14_4_1 |
InParanoidi | Q6UX04 |
OMAi | SENHYIN |
OrthoDBi | 1392223at2759 |
PhylomeDBi | Q6UX04 |
TreeFami | TF105935 |
Family and domain databases
Gene3Di | 2.40.100.10, 1 hit |
InterProi | View protein in InterPro IPR029000, Cyclophilin-like_dom_sf IPR020892, Cyclophilin-type_PPIase_CS IPR002130, Cyclophilin-type_PPIase_dom |
Pfami | View protein in Pfam PF00160, Pro_isomerase, 1 hit |
PRINTSi | PR00153, CSAPPISMRASE |
SUPFAMi | SSF50891, SSF50891, 1 hit |
PROSITEi | View protein in PROSITE PS00170, CSA_PPIASE_1, 1 hit PS50072, CSA_PPIASE_2, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketD6REK3 | D6REK3_HUMAN | Spliceosome-associated protein CWC2... | CWC27 | 381 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 111 – 112 | SQ → TH in AAC18041 (PubMed:9610721).Curated | 2 | |
Sequence conflicti | 331 | K → E in AAC18042 (PubMed:9610721).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_078981 | 7 – 472 | Missing in RPSKA. 1 PublicationAdd BLAST | 466 | |
Natural variantiVAR_078982 | 143 – 472 | Missing in RPSKA. 1 PublicationAdd BLAST | 330 | |
Natural variantiVAR_078983 | 206 – 472 | Missing in RPSKA. 1 PublicationAdd BLAST | 267 | |
Natural variantiVAR_037686 | 256 | P → A1 PublicationCorresponds to variant dbSNP:rs7735338Ensembl. | 1 | |
Natural variantiVAR_078984 | 315 – 472 | Missing in RPSKA. 1 PublicationAdd BLAST | 158 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_030082 | 385 – 391 | TLALLNQ → DVTCTS in isoform 2. 1 Publication | 7 | |
Alternative sequenceiVSP_030083 | 392 – 472 | Missing in isoform 2. 1 PublicationAdd BLAST | 81 |
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. |
CCDSi | CCDS3982.2 [Q6UX04-1] |
RefSeqi | NP_001284573.1, NM_001297644.1 NP_001284574.1, NM_001297645.1 NP_005860.2, NM_005869.3 [Q6UX04-1] |
Genome annotation databases
Ensembli | ENST00000381070; ENSP00000370460; ENSG00000153015 [Q6UX04-1] |
GeneIDi | 10283 |
KEGGi | hsa:10283 |
UCSCi | uc003jtn.2, human [Q6UX04-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
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. |
CCDSi | CCDS3982.2 [Q6UX04-1] |
RefSeqi | NP_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: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2HQ6 | X-ray | 1.75 | A | 8-173 | [»] | |
4R3E | X-ray | 2.00 | A | 1-178 | [»] | |
5Z56 | electron microscopy | 5.10 | z | 1-472 | [»] | |
5Z58 | electron microscopy | 4.90 | z | 1-472 | [»] | |
6FF4 | electron microscopy | 16.00 | s | 1-472 | [»] | |
6FF7 | electron microscopy | 4.50 | s | 1-472 | [»] | |
6YVH | X-ray | 3.19 | C/E/G/I | 378-431 | [»] | |
SMRi | Q6UX04 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 115572, 28 interactors |
CORUMi | Q6UX04 |
IntActi | Q6UX04, 14 interactors |
MINTi | Q6UX04 |
STRINGi | 9606.ENSP00000370460 |
PTM databases
GlyGeni | Q6UX04, 2 sites |
iPTMneti | Q6UX04 |
PhosphoSitePlusi | Q6UX04 |
Polymorphism and mutation databases
BioMutai | CWC27 |
DMDMi | 74749411 |
Proteomic databases
EPDi | Q6UX04 |
jPOSTi | Q6UX04 |
MassIVEi | Q6UX04 |
MaxQBi | Q6UX04 |
PaxDbi | Q6UX04 |
PeptideAtlasi | Q6UX04 |
PRIDEi | Q6UX04 |
ProteomicsDBi | 67545 [Q6UX04-1] 67546 [Q6UX04-2] |
Protocols and materials databases
Antibodypediai | 11511, 145 antibodies |
Genome annotation databases
Ensembli | ENST00000381070; ENSP00000370460; ENSG00000153015 [Q6UX04-1] |
GeneIDi | 10283 |
KEGGi | hsa:10283 |
UCSCi | uc003jtn.2, human [Q6UX04-1] |
Organism-specific databases
CTDi | 10283 |
DisGeNETi | 10283 |
EuPathDBi | HostDB:ENSG00000153015.15 |
GeneCardsi | CWC27 |
HGNCi | HGNC:10664, CWC27 |
HPAi | ENSG00000153015, Low tissue specificity |
MalaCardsi | CWC27 |
MIMi | 250410, phenotype 617170, gene |
neXtProti | NX_Q6UX04 |
OpenTargetsi | ENSG00000153015 |
PharmGKBi | PA35594 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0415, Eukaryota KOG0885, Eukaryota |
GeneTreei | ENSGT00940000155967 |
HOGENOMi | CLU_012062_14_4_1 |
InParanoidi | Q6UX04 |
OMAi | SENHYIN |
OrthoDBi | 1392223at2759 |
PhylomeDBi | Q6UX04 |
TreeFami | TF105935 |
Enzyme and pathway databases
BRENDAi | 5.2.1.8, 2681 |
PathwayCommonsi | Q6UX04 |
Reactomei | R-HSA-72163, mRNA Splicing - Major Pathway |
SIGNORi | Q6UX04 |
Miscellaneous databases
BioGRID-ORCSi | 10283, 184 hits in 848 CRISPR screens |
ChiTaRSi | CWC27, human |
EvolutionaryTracei | Q6UX04 |
GenomeRNAii | 10283 |
Pharosi | Q6UX04, Tbio |
PROi | PR:Q6UX04 |
RNActi | Q6UX04, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000153015, Expressed in tendon of biceps brachii and 217 other tissues |
ExpressionAtlasi | Q6UX04, baseline and differential |
Genevisiblei | Q6UX04, HS |
Family and domain databases
Gene3Di | 2.40.100.10, 1 hit |
InterProi | View protein in InterPro IPR029000, Cyclophilin-like_dom_sf IPR020892, Cyclophilin-type_PPIase_CS IPR002130, Cyclophilin-type_PPIase_dom |
Pfami | View protein in Pfam PF00160, Pro_isomerase, 1 hit |
PRINTSi | PR00153, CSAPPISMRASE |
SUPFAMi | SSF50891, SSF50891, 1 hit |
PROSITEi | View protein in PROSITE PS00170, CSA_PPIASE_1, 1 hit PS50072, CSA_PPIASE_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CWC27_HUMAN | |
Accessioni | Q6UX04Primary (citable) accession number: Q6UX04 Secondary accession number(s): O60529, O60530, Q96EM3 | |
Entry historyi | Integrated 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. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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, Reference proteomeDocuments
- Human chromosome 5
Human chromosome 5: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations