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CASC3 CASC3 exon junction complex subunit [ Homo sapiens (human) ]

Gene ID: 22794, updated on 29-Mar-2020

Summary

Official Symbol
CASC3provided by HGNC
Official Full Name
CASC3 exon junction complex subunitprovided by HGNC
Primary source
HGNC:HGNC:17040
See related
Ensembl:ENSG00000108349 MIM:606504
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BTZ; MLN51
Summary
The product of this gene is a core component of the exon junction complex (EJC), a protein complex that is deposited on spliced mRNAs at exon-exon junctions and functions in nonsense-mediated mRNA decay (NMD). The encoded protein binds RNA and interacts with two other EJC core components. It is predominantly located in the cytoplasm, but shuttles into the nucleus where it localizes to nuclear speckles. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in testis (RPKM 40.3), endometrium (RPKM 27.3) and 25 other tissues See more
Orthologs

Genomic context

See CASC3 in Genome Data Viewer
Location:
17q21.1
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (40140506..40172172)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (38296507..38328431)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene thyroid hormone receptor alpha Neighboring gene nuclear receptor subfamily 1 group D member 1 Neighboring gene MSL complex subunit 1 Neighboring gene microRNA 6866 Neighboring gene Rap guanine nucleotide exchange factor like 1 Neighboring gene microRNA 6867 Neighboring gene WAS/WASL interacting protein family member 2 Neighboring gene RNY4 pseudogene 8

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 is identified to have a physical interaction with cancer susceptibility candidate 3 (CASC3) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
identical protein binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
RNA export from nucleus TAS
Traceable Author Statement
more info
 
intracellular mRNA localization IEA
Inferred from Electronic Annotation
more info
 
mRNA 3'-end processing TAS
Traceable Author Statement
more info
 
mRNA export from nucleus TAS
Traceable Author Statement
more info
 
mRNA splicing, via spliceosome IDA
Inferred from Direct Assay
more info
PubMed 
mRNA splicing, via spliceosome TAS
Traceable Author Statement
more info
 
nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS
Traceable Author Statement
more info
 
regulation of translation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
U2-type catalytic step 1 spliceosome IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic stress granule IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
dendrite IEA
Inferred from Electronic Annotation
more info
 
exon-exon junction complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
exon-exon junction complex IDA
Inferred from Direct Assay
more info
PubMed 
nuclear membrane IDA
Inferred from Direct Assay
more info
 
nuclear speck IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
protein CASC3
Names
MLN 51
barentsz
cancer susceptibility 3
cancer susceptibility candidate 3
cancer susceptibility candidate gene 3 protein
metastatic lymph node 51
metastatic lymph node gene 51 protein
protein barentsz

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_007359.5NP_031385.2  protein CASC3

    See identical proteins and their annotated locations for NP_031385.2

    Status: REVIEWED

    Source sequence(s)
    X80199
    Consensus CDS
    CCDS11362.1
    UniProtKB/Swiss-Prot
    O15234
    Related
    ENSP00000264645.6, ENST00000264645.12
    Conserved Domains (2) summary
    smart01044
    Location:146248
    Btz; CASC3/Barentsz eIF4AIII binding
    PHA03247
    Location:555703
    PHA03247; large tegument protein UL36; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    40140506..40172172
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005257163.2XP_005257220.1  protein CASC3 isoform X1

    See identical proteins and their annotated locations for XP_005257220.1

    UniProtKB/Swiss-Prot
    O15234
    Conserved Domains (2) summary
    smart01044
    Location:146248
    Btz; CASC3/Barentsz eIF4AIII binding
    PHA03247
    Location:555703
    PHA03247; large tegument protein UL36; Provisional

RNA

  1. XR_934422.3 RNA Sequence

  2. XR_001752451.2 RNA Sequence

  3. XR_002957984.1 RNA Sequence

  4. XR_002957985.1 RNA Sequence

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