Seroatlas · Human Serome Atlas

CASC3

Protein CASC3

Also known as: BTZ, CASC3_HUMAN, MLN51

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
O15234
Gene
CASC3
Ensembl
ENSG00000108349
Chromosome
17
Canonical length
703 aa
Protein class
Cancer-related genes, Predicted intracellular proteins, Transporters
Subcellular location
Nuclear membrane
Quaternary structure
Homooligomer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

703 residues, UniProt reviewed canonical sequence.

>O15234|CASC3
     1  MADRRRQRAS QDTEDEESGA SGSDSGGSPL RGGGSCSGSA GGGGSGSLPS QRGGRTGALH
    61  LRRVESGGAK SAEESECESE DGIEGDAVLS DYESAEDSEG EEGEYSEEEN SKVELKSEAN
   121  DAVNSSTKEE KGEEKPDTKS TVTGERQSGD GQESTEPVEN KVGKKGPKHL DDDEDRKNPA
   181  YIPRKGLFFE HDLRGQTQEE EVRPKGRQRK LWKDEGRWEH DKFREDEQAP KSRQELIALY
   241  GYDIRSAHNP DDIKPRRIRK PRYGSPPQRD PNWNGERLNK SHRHQGLGGT LPPRTFINRN
   301  AAGTGRMSAP RNYSRSGGFK EGRAGFRPVE AGGQHGGRSG ETVKHEISYR SRRLEQTSVR
   361  DPSPEADAPV LGSPEKEEAA SEPPAAAPDA APPPPDRPIE KKSYSRARRT RTKVGDAVKL
   421  AEEVPPPPEG LIPAPPVPET TPTPPTKTGT WEAPVDSSTS GLEQDVAQLN IAEQNWSPGQ
   481  PSFLQPRELR GMPNHIHMGA GPPPQFNRME EMGVQGGRAK RYSSQRQRPV PEPPAPPVHI
   541  SIMEGHYYDP LQFQGPIYTH GDSPAPLPPQ GMLVQPGMNL PHPGLHPHQT PAPLPNPGLY
   601  PPPVSMSPGQ PPPQQLLAPT YFSAPGVMNF GNPSYPYAPG ALPPPPPPHL YPNTQAPSQV
   661  YGGVTYYNPA QQQVQPKPSP PRRTPQPVTI KPPPPEVVSR GSS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CASC3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.71
Highest tissue expression
67 nTPM

Expression across tissuesHPA

Tissue

  • blood vessel: 67 nTPM
  • midbrain: 62 nTPM
  • spinal cord: 61 nTPM
  • skeletal muscle: 55 nTPM
  • amygdala: 53 nTPM
  • hippocampal formation: 51 nTPM

Single-cell type

  • neutrophils: 230 nCPM
  • differentiating spermatogonia: 113 nCPM
  • myonuclei: 94 nCPM
  • early primary spermatocytes: 89 nCPM
  • adrenal medulla cells: 75 nCPM
  • vascular smooth muscle cells: 72 nCPM

Immune cell

  • neutrophil: 36 nTPM
  • non-classical monocyte: 18 nTPM
  • eosinophil: 13 nTPM
  • gdT-cell: 13 nTPM
  • intermediate monocyte: 12 nTPM
  • memory CD8 T-cell: 12 nTPM

Brain region

  • basal ganglia: 114 nTPM
  • white matter: 112 nTPM
  • thalamus: 112 nTPM
  • medulla oblongata: 111 nTPM
  • hypothalamus: 100 nTPM
  • amygdala: 97 nTPM

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.38
gnomAD pLI
0.61
gnomAD missense Z
1.32
DepMap mean gene effect
-0.43
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

  • Btz domain
  • Protein CASC3
  • CASC3/Barentsz eIF4AIII binding

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CASC3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CASC3 as an antibody target. Whether an autoantibody or antibody against CASC3 could matter depends on whether native CASC3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CASC3 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label CASC3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/CASC3. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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