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Protein

Protein CASC3

Gene

CASC3

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

Functioni

Core component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junctions on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. The EJC marks the position of the exon-exon junction in the mature mRNA for the gene expression machinery and the core components remain bound to spliced mRNAs throughout all stages of mRNA metabolism thereby influencing downstream processes including nuclear mRNA export, subcellular mRNA localization, translation efficiency and nonsense-mediated mRNA decay (NMD). Stimulates the ATPase and RNA-helicase activities of EIF4A3. Plays a role in the stress response by participating in cytoplasmic stress granules assembly and by favoring cell recovery following stress. Component of the dendritic ribonucleoprotein particles (RNPs) in hippocampal neurons. May play a role in mRNA transport. Binds spliced mRNA in sequence-independent manner, 20-24 nucleotides upstream of mRNA exon-exon junctions. Binds poly(G) and poly(U) RNA homopolymer.2 Publications

GO - Molecular functioni

  • enzyme binding Source: UniProtKB
  • identical protein binding Source: MGI
  • RNA binding Source: UniProtKB
  • ubiquitin protein ligase binding Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionRNA-binding
Biological processmRNA processing, mRNA splicing, mRNA transport, Nonsense-mediated mRNA decay, Stress response, Translation regulation, Transport

Enzyme and pathway databases

ReactomeiR-HSA-109688 Cleavage of Growing Transcript in the Termination Region
R-HSA-159236 Transport of Mature mRNA derived from an Intron-Containing Transcript
R-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-72187 mRNA 3'-end processing
R-HSA-9010553 Regulation of expression of SLITs and ROBOs
R-HSA-975957 Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)

Protein family/group databases

TCDBi3.A.18.1.1 the nuclear mrna exporter (mrna-e) family

Names & Taxonomyi

Protein namesi
Recommended name:
Protein CASC3
Alternative name(s):
Cancer susceptibility candidate gene 3 protein
Metastatic lymph node gene 51 protein1 Publication
Short name:
MLN 51
Protein barentsz
Short name:
Btz
Gene namesi
Name:CASC3
Synonyms:MLN511 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000108349.14
HGNCiHGNC:17040 CASC3
MIMi606504 gene
neXtProtiNX_O15234

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

Cell projection, Cytoplasm, Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi181Y → A: Does not affect EJC formation. 1 Publication1
Mutagenesisi184 – 185RK → AA: Does not affect EJC formation. 1 Publication2
Mutagenesisi188F → A: Does not affect EJC formation. 1 Publication1
Mutagenesisi218W → A: Abolishes interaction with EIF4A3, EJC formation and localization in nucleus speckles. 1 Publication1
Mutagenesisi220 – 221HD → AA: Abolishes interaction with EIF4A3, EJC formation and localization in nucleus speckles. 1 Publication2
Mutagenesisi240 – 241YG → AA: Abolishes interaction with EIF4A3, EJC formation and localization in nucleus speckles. 1 Publication2

Organism-specific databases

DisGeNETi22794
OpenTargetsiENSG00000108349
PharmGKBiPA134948596

Polymorphism and mutation databases

BioMutaiCASC3

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000893241 – 703Protein CASC3Add BLAST703

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei35PhosphoserineBy similarity1
Modified residuei117PhosphoserineCombined sources1
Modified residuei148PhosphoserineCombined sources1
Modified residuei265PhosphoserineCombined sources1
Modified residuei357PhosphothreonineCombined sources1
Modified residuei363PhosphoserineCombined sources1
Modified residuei373PhosphoserineCombined sources1
Modified residuei477PhosphoserineCombined sources1

Post-translational modificationi

ADP-ribosylated by tankyrase TNKS and TNKS2. Poly-ADP-ribosylated protein is recognized by RNF146, followed by ubiquitination.1 Publication
Ubiquitinated by RNF146 when poly-ADP-ribosylated, leading to its degradation.1 Publication

Keywords - PTMi

ADP-ribosylation, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiO15234
MaxQBiO15234
PaxDbiO15234
PeptideAtlasiO15234
PRIDEiO15234
TopDownProteomicsiO15234

PTM databases

iPTMnetiO15234
PhosphoSitePlusiO15234

Miscellaneous databases

PMAP-CutDBiO15234

Expressioni

Tissue specificityi

Widely expressed. Overexpressed in breast cancers and metastasis, as well as in gastric cancers.1 Publication

Gene expression databases

BgeeiENSG00000108349
CleanExiHS_CASC3
ExpressionAtlasiO15234 baseline and differential
GenevisibleiO15234 HS

Organism-specific databases

HPAiHPA024592
HPA050262

Interactioni

Subunit structurei

Component of the mRNA splicing-dependent exon junction complex (EJC), which contains at least CASC3, EIF4A3, MAGOH, NXF1 and RBM8A/Y14 (PubMed:15166247, PubMed:16170325, PubMed:16314458, PubMed:16923391, PubMed:16931718, PubMed:19033377). Forms homooligomers (By similarity). Interacts with STAU in an RNA-dependent manner (By similarity).By similarity6 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • enzyme binding Source: UniProtKB
  • identical protein binding Source: MGI
  • ubiquitin protein ligase binding Source: UniProtKB

Protein-protein interaction databases

BioGridi116475, 58 interactors
CORUMiO15234
DIPiDIP-33288N
ELMiO15234
IntActiO15234, 32 interactors
MINTiO15234
STRINGi9606.ENSP00000264645

Structurei

Secondary structure

1703
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi172 – 174Combined sources3
Helixi226 – 228Combined sources3
Helixi233 – 240Combined sources8
Turni244 – 246Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2HYIX-ray2.30D/J170-246[»]
2J0QX-ray3.20I/T137-286[»]
2J0SX-ray2.21T137-286[»]
2J0UX-ray3.00T137-250[»]
2XB2X-ray3.40S/T137-286[»]
3EX7X-ray2.30D/I138-283[»]
5XJCelectron microscopy3.60x1-703[»]
ProteinModelPortaliO15234
SMRiO15234
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO15234

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni137 – 283Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles1 PublicationAdd BLAST147
Regioni137 – 283Sufficient to form the EJCAdd BLAST147
Regioni377 – 703Necessary for localization in cytoplasmic stress granulesAdd BLAST327

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili95 – 131Sequence analysisAdd BLAST37

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi204 – 210Nuclear localization signal 1Sequence analysis7
Motifi254 – 262Nuclear localization signal 2Sequence analysis9
Motifi462 – 466Nuclear export signal5

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi41 – 46Poly-Gly6
Compositional biasi392 – 395Poly-Pro4
Compositional biasi425 – 428Poly-Pro4
Compositional biasi643 – 648Poly-Pro6
Compositional biasi692 – 695Poly-Pro4

Domaini

The coiled coil domain may be involved in oligomerization.

Sequence similaritiesi

Belongs to the CASC3 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG4264 Eukaryota
ENOG410ZW5Y LUCA
GeneTreeiENSGT00390000006930
HOGENOMiHOG000069997
HOVERGENiHBG050799
InParanoidiO15234
KOiK14323
OMAiFKEGRAG
OrthoDBiEOG091G0JLP
PhylomeDBiO15234
TreeFamiTF329663

Family and domain databases

InterProiView protein in InterPro
IPR018545 Btz_dom
IPR028544 CASC3
PANTHERiPTHR13434 PTHR13434, 1 hit
PfamiView protein in Pfam
PF09405 Btz, 1 hit
SMARTiView protein in SMART
SM01044 Btz, 1 hit

Sequencei

Sequence statusi: Complete.

O15234-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MADRRRQRAS QDTEDEESGA SGSDSGGSPL RGGGSCSGSA GGGGSGSLPS
60 70 80 90 100
QRGGRTGALH LRRVESGGAK SAEESECESE DGIEGDAVLS DYESAEDSEG
110 120 130 140 150
EEGEYSEEEN SKVELKSEAN DAVNSSTKEE KGEEKPDTKS TVTGERQSGD
160 170 180 190 200
GQESTEPVEN KVGKKGPKHL DDDEDRKNPA YIPRKGLFFE HDLRGQTQEE
210 220 230 240 250
EVRPKGRQRK LWKDEGRWEH DKFREDEQAP KSRQELIALY GYDIRSAHNP
260 270 280 290 300
DDIKPRRIRK PRYGSPPQRD PNWNGERLNK SHRHQGLGGT LPPRTFINRN
310 320 330 340 350
AAGTGRMSAP RNYSRSGGFK EGRAGFRPVE AGGQHGGRSG ETVKHEISYR
360 370 380 390 400
SRRLEQTSVR DPSPEADAPV LGSPEKEEAA SEPPAAAPDA APPPPDRPIE
410 420 430 440 450
KKSYSRARRT RTKVGDAVKL AEEVPPPPEG LIPAPPVPET TPTPPTKTGT
460 470 480 490 500
WEAPVDSSTS GLEQDVAQLN IAEQNWSPGQ PSFLQPRELR GMPNHIHMGA
510 520 530 540 550
GPPPQFNRME EMGVQGGRAK RYSSQRQRPV PEPPAPPVHI SIMEGHYYDP
560 570 580 590 600
LQFQGPIYTH GDSPAPLPPQ GMLVQPGMNL PHPGLHPHQT PAPLPNPGLY
610 620 630 640 650
PPPVSMSPGQ PPPQQLLAPT YFSAPGVMNF GNPSYPYAPG ALPPPPPPHL
660 670 680 690 700
YPNTQAPSQV YGGVTYYNPA QQQVQPKPSP PRRTPQPVTI KPPPPEVVSR

GSS
Length:703
Mass (Da):76,278
Last modified:August 14, 2001 - v2
Checksum:i642A4C01C8DD3BE0
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X80199 mRNA Translation: CAC27699.1
AK292425 mRNA Translation: BAF85114.1
AC068669 Genomic DNA No translation available.
BC044656 mRNA Translation: AAH44656.1
BC050526 mRNA Translation: AAH50526.1
CCDSiCCDS11362.1
RefSeqiNP_031385.2, NM_007359.4
XP_005257220.1, XM_005257163.1
UniGeneiHs.743287

Genome annotation databases

EnsembliENST00000264645; ENSP00000264645; ENSG00000108349
GeneIDi22794
KEGGihsa:22794
UCSCiuc002hue.4 human

Similar proteinsi

Entry informationi

Entry nameiCASC3_HUMAN
AccessioniPrimary (citable) accession number: O15234
Secondary accession number(s): A8K8R0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: August 14, 2001
Last modified: May 23, 2018
This is version 171 of the entry and version 2 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 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families

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