Skip to content
GenoLensGenoLens

SRPRA

Chr 11q24.2

SRP receptor subunit alpha

Aliases:
SRP-alpha, Sralpha, SR-alpha
MANE:
ENST00000332118.11

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Cytopenia - NOT Fanconi anaemia

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • severe congenital neutropenia

    0.38
  • Shwachman-Diamond syndrome 1

    0.33
  • autism spectrum disorder

    0.09
  • coronary artery disorder

    0.05
  • lymphatic system disorder

    0.04
  • alcohol drinking

    0.04
  • myocardial infarction

    0.03
  • coronary atherosclerosis

    0.02
  • sialadenitis

    0.02
  • spermatocele

    0.02

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Signal recognition particle receptor subunit alpha

Component of the signal recognition particle (SRP) complex receptor (SR) (PubMed:16439358). Ensures, in conjunction with the SRP complex, the correct targeting of the nascent secretory proteins to the endoplasmic reticulum membrane system (PubMed:16675701, PubMed:34020957). Forms a guanosine 5'-triphosphate (GTP)-dependent complex with the SRP subunit SRP54 (PubMed:34020957). SRP receptor compaction and GTPase rearrangement drive SRP-mediated cotranslational protein translocation into the ER (PubMed:34020957)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.