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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-Experimental evidence at protein leveli

Functioni

Required for pre-mRNA splicing and for exon-junction complex (EJC) assembly. 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.3 Publications

GO - Molecular functioni

  • RNA binding Source: UniProtKB

GO - Biological processi

  • mRNA splicing, via spliceosome Source: UniProtKB
  • regulation of mRNA splicing, via spliceosome Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

mRNA processing, mRNA splicing

Enzyme and pathway databases

BioCyciZFISH:ENSG00000163510-MONOMER.
ReactomeiR-HSA-72163. mRNA Splicing - Major Pathway.

Names & Taxonomyi

Protein namesi
Recommended name:
Pre-mRNA-splicing factor CWC22 homolog
Alternative name(s):
Nucampholin homolog
fSAPb
Gene namesi
Name:CWC22
Synonyms:KIAA1604, NCM
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:29322. CWC22.

Subcellular locationi

  • Nucleus
  • Nucleus speckle

  • Note: Concentrates around speckles, which are sites of pre-mRNA synthesis and processing, where it colocalizes with EJC core proteins.

GO - Cellular componenti

  • catalytic step 2 spliceosome Source: UniProtKB
  • cytoplasm Source: HPA
  • Golgi apparatus Source: HPA
  • nuclear speck Source: UniProtKB
  • nucleoplasm Source: HPA
  • spliceosomal complex Source: UniProtKB
  • U2-type catalytic step 1 spliceosome Source: GO_Central
Complete GO annotation...

Keywords - Cellular componenti

Nucleus, Spliceosome

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

DisGeNETi57703.
OpenTargetsiENSG00000163510.
PharmGKBiPA164718415.

Polymorphism and mutation databases

BioMutaiCWC22.
DMDMi296439380.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003020051 – 908Pre-mRNA-splicing factor CWC22 homologAdd BLAST908

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei39PhosphoserineCombined sources1
Modified residuei61PhosphoserineCombined sources1
Modified residuei107PhosphoserineBy similarity1
Modified residuei786PhosphoserineCombined sources1
Modified residuei829PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9HCG8.
MaxQBiQ9HCG8.
PaxDbiQ9HCG8.
PeptideAtlasiQ9HCG8.
PRIDEiQ9HCG8.

PTM databases

iPTMnetiQ9HCG8.
PhosphoSitePlusiQ9HCG8.

Expressioni

Gene expression databases

BgeeiENSG00000163510.
ExpressionAtlasiQ9HCG8. baseline and differential.
GenevisibleiQ9HCG8. HS.

Organism-specific databases

HPAiHPA036748.
HPA036749.

Interactioni

Subunit structurei

Component of the spliceosome C complex. Interacts with EIF4A3 and PRPF19 in an RNA-independent manner. Direct interaction with EIF4A3 is mediated by the MIF4G domain. Full interaction with EIF4A3 occurs only when EIF4A3 is not part of the EJC and prevents EIF4A3 binding to RNA.5 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
EIF4A3P389193EBI-373289,EBI-299104
FAM32AQ9Y4212EBI-373289,EBI-726146
FRG1Q143312EBI-373289,EBI-2515248

Protein-protein interaction databases

BioGridi121727. 33 interactors.
DIPiDIP-31268N.
IntActiQ9HCG8. 13 interactors.
MINTiMINT-3070547.
STRINGi9606.ENSP00000387006.

Structurei

Secondary structure

1908
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi136 – 140Combined sources5
Helixi150 – 172Combined sources23
Turni175 – 177Combined sources3
Helixi178 – 186Combined sources9
Turni190 – 193Combined sources4
Helixi194 – 207Combined sources14
Helixi209 – 211Combined sources3
Helixi212 – 225Combined sources14
Helixi227 – 247Combined sources21
Helixi250 – 265Combined sources16
Helixi272 – 283Combined sources12
Helixi287 – 307Combined sources21
Helixi309 – 324Combined sources16
Helixi330 – 344Combined sources15
Helixi362 – 364Combined sources3
Beta strandi372 – 374Combined sources3
Helixi380 – 383Combined sources4
Helixi391 – 405Combined sources15

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4C9BX-ray2.00B116-406[»]
ProteinModelPortaliQ9HCG8.
SMRiQ9HCG8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini163 – 346MIF4GPROSITE-ProRule annotationAdd BLAST184
Domaini454 – 570MIPROSITE-ProRule annotationAdd BLAST117

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi16 – 97Arg-richAdd BLAST82
Compositional biasi116 – 119Poly-Lys4
Compositional biasi423 – 438Poly-GluAdd BLAST16
Compositional biasi666 – 713Ser-richAdd BLAST48

Sequence similaritiesi

Belongs to the CWC22 family.Curated
Contains 1 MI domain.PROSITE-ProRule annotation
Contains 1 MIF4G domain.Curated

Phylogenomic databases

eggNOGiKOG2140. Eukaryota.
ENOG410XNP2. LUCA.
GeneTreeiENSGT00650000093379.
InParanoidiQ9HCG8.
KOiK13100.
OMAiQTNDRKQ.
OrthoDBiEOG091G06MK.
PhylomeDBiQ9HCG8.
TreeFamiTF300510.

Family and domain databases

Gene3Di1.25.40.180. 1 hit.
InterProiIPR016024. ARM-type_fold.
IPR003891. Initiation_fac_eIF4g_MI.
IPR016021. MIF4-like.
IPR003890. MIF4G-like_typ-3.
[Graphical view]
PfamiPF02847. MA3. 1 hit.
[Graphical view]
SMARTiSM00544. MA3. 1 hit.
SM00543. MIF4G. 1 hit.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 1 hit.
PROSITEiPS51366. MI. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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
Checksum:i00EF9B361B5F55AB
GO

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. Translation N-terminally shortened.Curated
The sequence BAB15197 differs from that shown. Reason: Frameshift at position 555.Curated
The sequence BAB15612 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
Natural variantiVAR_057513656A → V.Corresponds to variant rs17778270dbSNPEnsembl.1
Natural variantiVAR_057514741D → V.Corresponds to variant rs11903115dbSNPEnsembl.1
Natural variantiVAR_057515794R → Q.Corresponds to variant rs1046356dbSNPEnsembl.1

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.
UniGeneiHs.311363.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Polymorphism

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.
UniGeneiHs.311363.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4C9BX-ray2.00B116-406[»]
ProteinModelPortaliQ9HCG8.
SMRiQ9HCG8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121727. 33 interactors.
DIPiDIP-31268N.
IntActiQ9HCG8. 13 interactors.
MINTiMINT-3070547.
STRINGi9606.ENSP00000387006.

PTM databases

iPTMnetiQ9HCG8.
PhosphoSitePlusiQ9HCG8.

Polymorphism and mutation databases

BioMutaiCWC22.
DMDMi296439380.

Proteomic databases

EPDiQ9HCG8.
MaxQBiQ9HCG8.
PaxDbiQ9HCG8.
PeptideAtlasiQ9HCG8.
PRIDEiQ9HCG8.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi57703.
DisGeNETi57703.
GeneCardsiCWC22.
H-InvDBHIX0022794.
HGNCiHGNC:29322. CWC22.
HPAiHPA036748.
HPA036749.
MIMi615186. gene.
neXtProtiNX_Q9HCG8.
OpenTargetsiENSG00000163510.
PharmGKBiPA164718415.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2140. Eukaryota.
ENOG410XNP2. LUCA.
GeneTreeiENSGT00650000093379.
InParanoidiQ9HCG8.
KOiK13100.
OMAiQTNDRKQ.
OrthoDBiEOG091G06MK.
PhylomeDBiQ9HCG8.
TreeFamiTF300510.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000163510-MONOMER.
ReactomeiR-HSA-72163. mRNA Splicing - Major Pathway.

Miscellaneous databases

ChiTaRSiCWC22. human.
GenomeRNAii57703.
PROiQ9HCG8.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000163510.
ExpressionAtlasiQ9HCG8. baseline and differential.
GenevisibleiQ9HCG8. HS.

Family and domain databases

Gene3Di1.25.40.180. 1 hit.
InterProiIPR016024. ARM-type_fold.
IPR003891. Initiation_fac_eIF4g_MI.
IPR016021. MIF4-like.
IPR003890. MIF4G-like_typ-3.
[Graphical view]
PfamiPF02847. MA3. 1 hit.
[Graphical view]
SMARTiSM00544. MA3. 1 hit.
SM00543. MIF4G. 1 hit.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 1 hit.
PROSITEiPS51366. MI. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCWC22_HUMAN
AccessioniPrimary (citable) accession number: Q9HCG8
Secondary accession number(s): Q05DC2
, Q4G135, Q52LF0, Q6PEX2, Q7Z6I0, Q9H5L3, Q9H6Q6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: May 18, 2010
Last modified: November 30, 2016
This is version 114 of the entry and version 3 of the sequence. [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 2
    Human chromosome 2: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.