Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Pre-mRNA-splicing factor CWC22 homolog

Gene

CWC22

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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: GO_Central
  • regulation of mRNA splicing, via spliceosome Source: UniProtKB

Keywordsi

Biological processmRNA processing, mRNA splicing

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000163510.13
HGNCiHGNC:29322 CWC22
MIMi615186 gene
neXtProtiNX_Q9HCG8

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, 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

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

Show more details

Protein-protein interaction databases

BioGridi121727, 47 interactors
CORUMiQ9HCG8
DIPiDIP-31268N
IntActiQ9HCG8, 13 interactors
MINTiQ9HCG8
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[»]
5MQFelectron microscopy5.90T1-908[»]
5XJCelectron microscopy3.60V1-908[»]
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

Phylogenomic databases

eggNOGiKOG2140 Eukaryota
ENOG410XNP2 LUCA
GeneTreeiENSGT00650000093379
InParanoidiQ9HCG8
KOiK13100
OMAiQTNDRKQ
OrthoDBiEOG091G06MK
PhylomeDBiQ9HCG8
TreeFamiTF300510

Family and domain databases

Gene3Di1.25.40.180, 1 hit
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

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 dbSNP:rs17778270Ensembl.1
Natural variantiVAR_057514741D → V. Corresponds to variant dbSNP:rs11903115Ensembl.1
Natural variantiVAR_057515794R → Q. Corresponds to variant dbSNP:rs1046356Ensembl.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

Similar proteinsi

Entry informationi

Entry nameiCWC22_HUMAN
AccessioniPrimary (citable) accession number: Q9HCG8
Secondary accession number(s): Q05DC2
, Q4G135, Q52LF0, Q6PEX2, Q7Z6I0, Q9H5L3, Q9H6Q6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: May 18, 2010
Last modified: May 23, 2018
This is version 125 of the entry and version 3 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

Cookie policy

We would like to use anonymized google analytics cookies to gather statistics on how uniprot.org is used in aggregate. Learn more

UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health