UPF3A
Regulator of nonsense transcripts 3A
Also known as: HUPF3A, REN3A_HUMAN, RENT3A, UPF3
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9H1J1
- Gene
- UPF3A
- Ensembl
- ENSG00000169062
- Chromosome
- 13
- Canonical length
- 476 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Vesicles,Plasma membrane
OverviewNCBI Gene
This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. The encoded protein is one of two functional homologs to yeast Upf3p. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein. It forms with Y14 a complex that binds specifically 20 nt upstream of exon-exon junctions. This gene is located on the long arm of chromosome 13. Several splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
Canonical amino-acid sequenceUniProt
476 residues, UniProt reviewed canonical sequence.
>Q9H1J1|UPF3A
1 MRSEKEGAGG LRAAVAARGP SGREKLSALE VQFHRDSQQQ EAETPPTSSS GCGGGAGKPR
61 EEKRTALSKV VIRRLPPGLT KEQLEEQLRP LPAHDYFEFF AADLSLYPHL YSRAYINFRN
121 PDDILLFRDR FDGYIFLDSK GLEYPAVVEF APFQKIAKKK LRKKDAKTGS IEDDPEYKKF
181 LETYCVEEEK TSANPETLLG EMEAKTRELI ARRTTPLLEY IKNRKLEKQR IREEKREERR
241 RRELEKKRLR EEEKRRRREE ERCKKKETDK QKKIAEKEVR IKLLKKPEKG EEPTTEKPKE
301 RGEEIDTGGG KQESCAPGAV VKARPMEGSL EEPQETSHSG SDKEHRDVER SQEQESEAQR
361 YHVDDGRRHR AHHEPERLSR RSEDEQRWGK GPGQDRGKKG SQDSGAPGEA MERLGRAQRC
421 DDSPAPRKER LANKDRPALQ LYDPGARFRA RECGGNRRIC KAEGSGTGPE KREEAELocalizationUniProt · AlphaFold · HPA
Whether an antibody against UPF3A 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)
- 0.6
- Highest tissue expression
- 43 nTPM
Expression across tissuesHPA
Tissue
- testis: 43 nTPM
- spinal cord: 38 nTPM
- cerebellum: 32 nTPM
- thyroid gland: 28 nTPM
- midbrain: 27 nTPM
- hippocampal formation: 23 nTPM
Single-cell type
- late primary spermatocytes: 708 nCPM
- myonuclei: 304 nCPM
- early primary spermatocytes: 292 nCPM
- oligodendrocyte progenitor cells: 289 nCPM
- platelets: 217 nCPM
- differentiating spermatogonia: 205 nCPM
Immune cell
- plasmacytoid DC: 17 nTPM
- memory B-cell: 13 nTPM
- NK-cell: 12 nTPM
- T-reg: 11 nTPM
- naive B-cell: 9.7 nTPM
- memory CD8 T-cell: 7.2 nTPM
Brain region
- cerebellum: 41 nTPM
- pons: 37 nTPM
- cerebral cortex: 37 nTPM
- hypothalamus: 36 nTPM
- white matter: 36 nTPM
- medulla oblongata: 35 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)
- 0.94
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.6
- DepMap mean gene effect
- -0.12
- 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
- in utero embryonic development
- mRNA transport
- negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
- positive regulation of mRNA cis splicing, via spliceosome
- positive regulation of translation
- random inactivation of X chromosome
- spermatogenesis
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of UPF3A 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 UPF3A as an antibody target. Whether an autoantibody or antibody against UPF3A could matter depends on whether native UPF3A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
UPF3A 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 UPF3A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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