Seroatlas · Human Serome Atlas

RSRC1

Serine/Arginine-related protein 53

Also known as: BM-011, MGC12197, RSRC1_HUMAN, SFRS21, SRrp53

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

Protein identityUniProt · HPA

UniProt accession
Q96IZ7
Gene
RSRC1
Ensembl
ENSG00000174891
Chromosome
3
Canonical length
334 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Nuclear speckles

OverviewNCBI Gene

This gene encodes a member of the serine and arginine rich-related protein family. The encoded protein is involved in both constitutive and alternative mRNA splicing. This gene may be associated with schizophrenia. A pseudogene of this gene is located on chromosome 9. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2012]

Canonical amino-acid sequenceUniProt

334 residues, UniProt reviewed canonical sequence.

>Q96IZ7|RSRC1
     1  MGRRSSDTEE ESRSKRKKKH RRRSSSSSSS DSRTYSRKKG GRKSRSKSRS WSRDLQPRSH
    61  SYDRRRRHRS SSSSSYGSRR KRSRSRSRGR GKSYRVQRSR SKSRTRRSRS RPRLRSHSRS
   121  SERSSHRRTR SRSRDRERRK GRDKEKREKE KDKGKDKELH NIKRGESGNI KAGLEHLPPA
   181  EQAKARLQLV LEAAAKADEA LKAKERNEEE AKRRKEEDQA TLVEQVKRVK EIEAIESDSF
   241  VQQTFRSSKE VKKSVEPSEV KQATSTSGPA SAVADPPSTE KEIDPTSIPT AIKYQDDNSL
   301  AHPNLFIEKA DAEEKWFKRL IALRQERLMG SPVA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RSRC1 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)
0.66
Highest tissue expression
19 nTPM

Expression across tissuesHPA

Tissue

  • blood vessel: 19 nTPM
  • cerebellum: 18 nTPM
  • skeletal muscle: 16 nTPM
  • cerebral cortex: 15 nTPM
  • adipose tissue: 14 nTPM
  • thyroid gland: 14 nTPM

Single-cell type

  • monocyte progenitors: 395 nCPM
  • neutrophil progenitors: 360 nCPM
  • erythrocyte progenitors: 340 nCPM
  • lactotrophs: 242 nCPM
  • retinal ganglion cells: 240 nCPM
  • megakaryocyte-erythroid progenitors: 237 nCPM

Immune cell

  • plasmacytoid DC: 58 nTPM
  • memory B-cell: 45 nTPM
  • naive B-cell: 41 nTPM
  • intermediate monocyte: 38 nTPM
  • non-classical monocyte: 35 nTPM
  • classical monocyte: 33 nTPM

Brain region

  • thalamus: 36 nTPM
  • midbrain: 26 nTPM
  • medulla oblongata: 26 nTPM
  • cerebral cortex: 24 nTPM
  • white matter: 24 nTPM
  • hypothalamus: 23 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RSRC1.

Disease | AllUniProt

Conditions RSRC1 is implicated in, by any mechanism.

  • Intellectual developmental disorder, autosomal recessive 70 (MRT70) MIM:618402

Disease | GeneticClinVar

11 pathogenic / likely-pathogenic of 83 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.84
gnomAD pLI
0
gnomAD missense Z
0.09
DepMap mean gene effect
0.09
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 14% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

  • Serine/Arginine-related protein 53

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of RSRC1 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 RSRC1 as an antibody target. Whether an autoantibody or antibody against RSRC1 could matter depends on whether native RSRC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RSRC1 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 RSRC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/RSRC1. 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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