Seroatlas · Human Serome Atlas

SRSF1

Serine/arginine-rich splicing factor 1

Also known as: ASF, MGC5228, SF2, SF2p33, SFRS1, SRp30a, SRSF1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q07955
Gene: SRSF1
Ensembl: ENSG00000136450
Chromosome: 17
Canonical length: 248 aa
Protein class: Plasma proteins, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Cytosol

OverviewNCBI Gene

This gene encodes a member of the arginine/serine-rich splicing factor protein family. The encoded protein can either activate or repress splicing, depending on its phosphorylation state and its interaction partners. Multiple transcript variants have been found for this gene. There is a pseudogene of this gene on chromosome 13. [provided by RefSeq, Jun 2014]

Canonical amino-acid sequenceUniProt

248 residues, UniProt reviewed canonical sequence.

>Q07955|SRSF1
     1  MSGGGVIRGP AGNNDCRIYV GNLPPDIRTK DIEDVFYKYG AIRDIDLKNR RGGPPFAFVE
    61  FEDPRDAEDA VYGRDGYDYD GYRLRVEFPR SGRGTGRGGG GGGGGGAPRG RYGPPSRRSE
   121  NRVVVSGLPP SGSWQDLKDH MREAGDVCYA DVYRDGTGVV EFVRKEDMTY AVRKLDNTKF
   181  RSHEGETAYI RVKVDGPRSP SYGRSRSRSR SRSRSRSRSN SRSRSYSPRR SRGSPRYSPR
   241  HSRSRSRT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SRSF1 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): 0.44
Highest tissue expression: 112 nTPM

Expression across tissuesHPA

Tissue

tonsil: 112 nTPM
lymph node: 100 nTPM
thymus: 97 nTPM
appendix: 79 nTPM
rectum: 72 nTPM
parathyroid gland: 69 nTPM

Single-cell type

renal collecting duct intercalated cells: 12 nCPM
renal connecting tubule cells: 11 nCPM
loop of henle epithelial cells: 8.6 nCPM
distal convoluted tubule cells: 8.3 nCPM
epididymal principal cells: 7.5 nCPM
proximal tubule cells: 7.5 nCPM

Immune cell

myeloid DC: 71 nTPM
intermediate monocyte: 64 nTPM
classical monocyte: 48 nTPM
NK-cell: 48 nTPM
non-classical monocyte: 45 nTPM
total PBMC: 45 nTPM

Brain region

choroid plexus: 68 nTPM
cerebellum: 63 nTPM
white matter: 59 nTPM
spinal cord: 55 nTPM
thalamus: 53 nTPM
basal ganglia: 53 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SRSF1.

Disease | AllUniProt

Conditions SRSF1 is implicated in, by any mechanism.

Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities (NEDFBA) MIM:620489

Disease | GeneticClinVar

15 pathogenic / likely-pathogenic of 40 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Intellectual disability
Neurodevelopmental delay
Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities
Inborn genetic diseases

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): 0.24
gnomAD pLI: 0.98
gnomAD missense Z: 3.96
DepMap mean gene effect: -1.7
DepMap dependency class: pan

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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

RNA recognition motif domain
Nucleotide-binding alpha-beta plait domain superfamily
RNA-binding domain superfamily
RRT5/SRSF/Splicing Factor SR
RNA recognition motif
Serine/arginine-rich splicing factor 1, RNA recognition motif 2
SRSF1, RNA recognition motif 1

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SRSF1 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 SRSF1 as an antibody target. Whether an autoantibody or antibody against SRSF1 could matter depends on whether native SRSF1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SRSF1 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 SRSF1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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