Seroatlas · Human Serome Atlas

SF3A1

Splicing factor 3A subunit 1

Also known as: Prp21, PRPF21, SAP114, SF3A1_HUMAN, SF3a120

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

Protein identityUniProt · HPA

UniProt accession: Q15459
Gene: SF3A1
Ensembl: ENSG00000099995
Chromosome: 22
Canonical length: 793 aa
Protein class: Plasma proteins, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Nuclear speckles

OverviewNCBI Gene

This gene encodes a subunit of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer is a component of the mature U2 small nuclear ribonucleoprotein particle (snRNP). U2 small nuclear ribonucleoproteins play a critical role in spliceosome assembly and pre-mRNA splicing. [provided by RefSeq, Aug 2014]

Canonical amino-acid sequenceUniProt

793 residues, UniProt reviewed canonical sequence.

>Q15459|SF3A1
     1  MPAGPVQAVP PPPPVPTEPK QPTEEEASSK EDSAPSKPVV GIIYPPPEVR NIVDKTASFV
    61  ARNGPEFEAR IRQNEINNPK FNFLNPNDPY HAYYRHKVSE FKEGKAQEPS AAIPKVMQQQ
   121  QQTTQQQLPQ KVQAQVIQET IVPKEPPPEF EFIADPPSIS AFDLDVVKLT AQFVARNGRQ
   181  FLTQLMQKEQ RNYQFDFLRP QHSLFNYFTK LVEQYTKILI PPKGLFSKLK KEAENPREVL
   241  DQVCYRVEWA KFQERERKKE EEEKEKERVA YAQIDWHDFV VVETVDFQPN EQGNFPPPTT
   301  PEELGARILI QERYEKFGES EEVEMEVESD EEDDKQEKAE EPPSQLDQDT QVQDMDEGSD
   361  DEEEGQKVPP PPETPMPPPL PPTPDQVIVR KDYDPKASKP LPPAPAPDEY LVSPITGEKI
   421  PASKMQEHMR IGLLDPRWLE QRDRSIREKQ SDDEVYAPGL DIESSLKQLA ERRTDIFGVE
   481  ETAIGKKIGE EEIQKPEEKV TWDGHSGSMA RTQQAAQANI TLQEQIEAIH KAKGLVPEDD
   541  TKEKIGPSKP NEIPQQPPPP SSATNIPSSA PPITSVPRPP TMPPPVRTTV VSAVPVMPRP
   601  PMASVVRLPP GSVIAPMPPI IHAPRINVVP MPPSAPPIMA PRPPPMIVPT AFVPAPPVAP
   661  VPAPAPMPPV HPPPPMEDEP TSKKLKTEDS LMPEEEFLRR NKGPVSIKVQ VPNMQDKTEW
   721  KLNGQVLVFT LPLTDQVSVI KVKIHEATGM PAGKQKLQYE GIFIKDSNSL AYYNMANGAV
   781  IHLALKERGG RKK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SF3A1 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): 0.55
Highest tissue expression: 55 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 55 nTPM
skeletal muscle: 48 nTPM
testis: 46 nTPM
ovary: 43 nTPM
appendix: 43 nTPM
lymph node: 41 nTPM

Single-cell type

late spermatids: 180 nCPM
neutrophils: 133 nCPM
late primary spermatocytes: 91 nCPM
erythrocyte progenitors: 91 nCPM
early spermatids: 88 nCPM
platelets: 74 nCPM

Immune cell

T-reg: 15 nTPM
eosinophil: 14 nTPM
neutrophil: 14 nTPM
non-classical monocyte: 13 nTPM
naive CD4 T-cell: 12 nTPM
memory CD8 T-cell: 12 nTPM

Brain region

cerebral cortex: 71 nTPM
white matter: 70 nTPM
cerebellum: 67 nTPM
basal ganglia: 67 nTPM
medulla oblongata: 63 nTPM
thalamus: 61 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SF3A1.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 60 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Malignant lymphoma, large B-cell, diffuse

Disease | ImmuneIEDB

Conditions an epitope on SF3A1 was assayed in.

Behcet's disease T cell

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): 0.3
gnomAD pLI: 0.99
gnomAD missense Z: 4.16
DepMap mean gene effect: -1.76
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

RNA binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

SWAP/Surp
Ubiquitin-like domain
Ubiquitin-like domain superfamily
SWAP/Surp superfamily
Ubiquitin family
Surp module
Splicing factor 3A subunit 1, conserved domain
Splicing factor 3A subunit 1, ubiquitin domain
Splicing factor 3A subunit 1
Pre-mRNA splicing factor PRP21 like protein

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SF3A1 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 SF3A1 as an antibody target. Whether an autoantibody or antibody against SF3A1 could matter depends on whether native SF3A1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SF3A1 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 SF3A1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...