UniProtKB - Q9HCG8 (CWC22_HUMAN)
Pre-mRNA-splicing factor CWC22 homolog
CWC22
Functioni
GO - Molecular functioni
- RNA binding Source: UniProtKB
GO - Biological processi
- mRNA splicing, via spliceosome Source: UniProtKB
- regulation of mRNA splicing, via spliceosome Source: UniProtKB
Keywordsi
Biological process | mRNA processing, mRNA splicing |
Enzyme and pathway databases
Reactomei | R-HSA-72163 mRNA Splicing - Major Pathway |
Names & Taxonomyi
Protein namesi | Recommended name: Pre-mRNA-splicing factor CWC22 homologAlternative name(s): Nucampholin homolog fSAPb |
Gene namesi | Name:CWC22 Synonyms:KIAA1604, NCM |
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
HGNCi | HGNC:29322 CWC22 |
MIMi | 615186 gene |
neXtProti | NX_Q9HCG8 |
Subcellular locationi
Nucleus
- Nucleus 4 Publications
- Nucleus speckle 1 Publication
Note: Concentrates around speckles, which are sites of pre-mRNA synthesis and processing, where it colocalizes with EJC core proteins.1 Publication
Cytosol
- cytosol Source: HPA
Nucleus
- catalytic step 2 spliceosome Source: UniProtKB
- nuclear speck Source: UniProtKB
- nucleoplasm Source: Reactome
- nucleus Source: UniProtKB
- spliceosomal complex Source: UniProtKB
- U2-type catalytic step 1 spliceosome Source: UniProtKB
- U2-type catalytic step 2 spliceosome Source: UniProtKB
- U2-type precatalytic spliceosome Source: UniProtKB
Keywords - Cellular componenti
Nucleus, SpliceosomePathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 168 | G → Y: No effect on EIF4A3 incorporation into EJCs. 1 Publication | 1 | |
Mutagenesisi | 171 – 174 | NKVN → AAVA: Loss of EIF4A3-binding. | 4 | |
Mutagenesisi | 171 – 172 | NK → DE: Loss of EIF4A3-binding. 1 Publication | 2 | |
Mutagenesisi | 331 | R → A: Decreased EIF4A3-binding; when associated with A-334. 1 Publication | 1 | |
Mutagenesisi | 334 | Y → A: Decreased EIF4A3-binding; when associated with A-331. 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 57703 |
OpenTargetsi | ENSG00000163510 |
PharmGKBi | PA164718415 |
Miscellaneous databases
Pharosi | Q9HCG8 |
Polymorphism and mutation databases
BioMutai | CWC22 |
DMDMi | 296439380 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000302005 | 1 – 908 | Pre-mRNA-splicing factor CWC22 homologAdd BLAST | 908 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 39 | PhosphoserineCombined sources | 1 | |
Modified residuei | 61 | PhosphoserineCombined sources | 1 | |
Modified residuei | 107 | PhosphoserineBy similarity | 1 | |
Modified residuei | 786 | PhosphoserineCombined sources | 1 | |
Modified residuei | 829 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q9HCG8 |
jPOSTi | Q9HCG8 |
MassIVEi | Q9HCG8 |
MaxQBi | Q9HCG8 |
PaxDbi | Q9HCG8 |
PeptideAtlasi | Q9HCG8 |
PRIDEi | Q9HCG8 |
ProteomicsDBi | 81712 |
PTM databases
iPTMneti | Q9HCG8 |
PhosphoSitePlusi | Q9HCG8 |
Expressioni
Gene expression databases
Bgeei | ENSG00000163510 Expressed in 201 organ(s), highest expression level in tendon |
ExpressionAtlasi | Q9HCG8 baseline and differential |
Genevisiblei | Q9HCG8 HS |
Organism-specific databases
HPAi | HPA036748 |
Interactioni
Subunit structurei
Component of the pre-catalytic spliceosome B and the catalytic spliceosome C complexes (PubMed:11991638, PubMed:22961380, PubMed:28502770, PubMed:28076346, PubMed:29360106, PubMed:29301961).
Interacts with EIF4A3 and PRPF19 in an RNA-independent manner. Direct interaction with EIF4A3 is mediated by the MIF4G domain (PubMed:24218557). Full interaction with EIF4A3 occurs only when EIF4A3 is not part of the EJC and prevents EIF4A3 binding to RNA.
10 PublicationsBinary interactionsi
Protein-protein interaction databases
BioGridi | 121727, 55 interactors |
CORUMi | Q9HCG8 |
DIPi | DIP-31268N |
IntActi | Q9HCG8, 38 interactors |
MINTi | Q9HCG8 |
STRINGi | 9606.ENSP00000387006 |
Structurei
Secondary structure
3D structure databases
SMRi | Q9HCG8 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 163 – 346 | MIF4GPROSITE-ProRule annotationAdd BLAST | 184 | |
Domaini | 454 – 570 | MIPROSITE-ProRule annotationAdd BLAST | 117 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 16 – 97 | Arg-richAdd BLAST | 82 | |
Compositional biasi | 116 – 119 | Poly-Lys | 4 | |
Compositional biasi | 423 – 438 | Poly-GluAdd BLAST | 16 | |
Compositional biasi | 666 – 713 | Ser-richAdd BLAST | 48 |
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG2140 Eukaryota ENOG410XNP2 LUCA |
GeneTreei | ENSGT00940000153458 |
InParanoidi | Q9HCG8 |
KOi | K13100 |
OMAi | DALGWHC |
OrthoDBi | 996017at2759 |
PhylomeDBi | Q9HCG8 |
TreeFami | TF300510 |
Family and domain databases
Gene3Di | 1.25.40.180, 1 hit |
InterProi | View protein in InterPro IPR016024 ARM-type_fold IPR003891 Initiation_fac_eIF4g_MI IPR016021 MIF4-like_sf IPR003890 MIF4G-like_typ-3 |
Pfami | View protein in Pfam PF02847 MA3, 1 hit |
SMARTi | View protein in SMART SM00544 MA3, 1 hit SM00543 MIF4G, 1 hit |
SUPFAMi | SSF48371 SSF48371, 1 hit |
PROSITEi | View protein in PROSITE PS51366 MI, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketB7WP74 | B7WP74_HUMAN | Pre-mRNA-splicing factor CWC22 homo... | CWC22 | 745 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 270 | H → Y in BAB15197 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 550 | M → V in BAB15197 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 613 | E → G in AAH31216 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 685 | S → F in AAH16651 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 701 | S → G in AAH31216 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 742 | R → K in AAH31216 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 773 | S → R in BAB15612 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 773 | S → R in AAH53573 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 773 | S → R in AAH93952 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 773 | S → R in AAH93954 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_057513 | 656 | A → V. Corresponds to variant dbSNP:rs17778270Ensembl. | 1 | |
Natural variantiVAR_057514 | 741 | D → V. Corresponds to variant dbSNP:rs11903115Ensembl. | 1 | |
Natural variantiVAR_057515 | 794 | R → 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 |
CCDSi | CCDS46465.1 |
RefSeqi | NP_065994.1, NM_020943.2 XP_005246783.1, XM_005246726.2 |
Genome annotation databases
Ensembli | ENST00000410053; ENSP00000387006; ENSG00000163510 |
GeneIDi | 57703 |
KEGGi | hsa:57703 |
UCSCi | uc010frh.2 human |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
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 |
CCDSi | CCDS46465.1 |
RefSeqi | NP_065994.1, NM_020943.2 XP_005246783.1, XM_005246726.2 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
4C9B | X-ray | 2.00 | B | 116-406 | [»] | |
5MQF | electron microscopy | 5.90 | T | 1-908 | [»] | |
5XJC | electron microscopy | 3.60 | V | 1-908 | [»] | |
5YZG | electron microscopy | 4.10 | V | 1-908 | [»] | |
5Z56 | electron microscopy | 5.10 | V | 1-908 | [»] | |
5Z57 | electron microscopy | 6.50 | V | 1-908 | [»] | |
5Z58 | electron microscopy | 4.90 | V | 1-908 | [»] | |
6FF7 | electron microscopy | 4.50 | T | 1-908 | [»] | |
6ICZ | electron microscopy | 3.00 | V | 1-908 | [»] | |
6QDV | electron microscopy | 3.30 | H | 1-908 | [»] | |
SMRi | Q9HCG8 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGridi | 121727, 55 interactors |
CORUMi | Q9HCG8 |
DIPi | DIP-31268N |
IntActi | Q9HCG8, 38 interactors |
MINTi | Q9HCG8 |
STRINGi | 9606.ENSP00000387006 |
PTM databases
iPTMneti | Q9HCG8 |
PhosphoSitePlusi | Q9HCG8 |
Polymorphism and mutation databases
BioMutai | CWC22 |
DMDMi | 296439380 |
Proteomic databases
EPDi | Q9HCG8 |
jPOSTi | Q9HCG8 |
MassIVEi | Q9HCG8 |
MaxQBi | Q9HCG8 |
PaxDbi | Q9HCG8 |
PeptideAtlasi | Q9HCG8 |
PRIDEi | Q9HCG8 |
ProteomicsDBi | 81712 |
Genome annotation databases
Ensembli | ENST00000410053; ENSP00000387006; ENSG00000163510 |
GeneIDi | 57703 |
KEGGi | hsa:57703 |
UCSCi | uc010frh.2 human |
Organism-specific databases
CTDi | 57703 |
DisGeNETi | 57703 |
GeneCardsi | CWC22 |
HGNCi | HGNC:29322 CWC22 |
HPAi | HPA036748 |
MIMi | 615186 gene |
neXtProti | NX_Q9HCG8 |
OpenTargetsi | ENSG00000163510 |
PharmGKBi | PA164718415 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2140 Eukaryota ENOG410XNP2 LUCA |
GeneTreei | ENSGT00940000153458 |
InParanoidi | Q9HCG8 |
KOi | K13100 |
OMAi | DALGWHC |
OrthoDBi | 996017at2759 |
PhylomeDBi | Q9HCG8 |
TreeFami | TF300510 |
Enzyme and pathway databases
Reactomei | R-HSA-72163 mRNA Splicing - Major Pathway |
Miscellaneous databases
ChiTaRSi | CWC22 human |
GenomeRNAii | 57703 |
Pharosi | Q9HCG8 |
PROi | PR:Q9HCG8 |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000163510 Expressed in 201 organ(s), highest expression level in tendon |
ExpressionAtlasi | Q9HCG8 baseline and differential |
Genevisiblei | Q9HCG8 HS |
Family and domain databases
Gene3Di | 1.25.40.180, 1 hit |
InterProi | View protein in InterPro IPR016024 ARM-type_fold IPR003891 Initiation_fac_eIF4g_MI IPR016021 MIF4-like_sf IPR003890 MIF4G-like_typ-3 |
Pfami | View protein in Pfam PF02847 MA3, 1 hit |
SMARTi | View protein in SMART SM00544 MA3, 1 hit SM00543 MIF4G, 1 hit |
SUPFAMi | SSF48371 SSF48371, 1 hit |
PROSITEi | View protein in PROSITE PS51366 MI, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CWC22_HUMAN | |
Accessioni | Q9HCG8Primary (citable) accession number: Q9HCG8 Secondary accession number(s): Q05DC2 Q9H6Q6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | September 11, 2007 |
Last sequence update: | May 18, 2010 | |
Last modified: | October 16, 2019 | |
This is version 139 of the entry and version 3 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, Complete proteome, Reference proteomeDocuments
- Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - SIMILARITY comments
Index of protein domains and families - Human chromosome 2
Human chromosome 2: 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