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SRP72

Chr 4q12

signal recognition particle 72

MANE:
ENST00000642900.1

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Cytopenia - NOT Fanconi anaemia

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Inherited predisposition to acute myeloid leukaemia (AML)

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Cytopenias and congenital anaemias

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • autosomal dominant aplasia and myelodysplasia

    0.64
  • neurodegenerative disease

    0.42
  • Subdural hemorrhage

    0.27
  • cancer

    0.03
  • oropharynx cancer

    0.02
  • breast carcinoma

    0.02
  • breast cancer

    0.02
  • myelodysplastic syndrome

    0.02
  • neoplasm

    0.02
  • Bone marrow hypocellularity

    0.01

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

Protein function (UniProt)

Signal recognition particle subunit SRP72

Component of the signal recognition particle (SRP) complex, a ribonucleoprotein complex that mediates the cotranslational targeting of secretory and membrane proteins to the endoplasmic reticulum (ER) (PubMed:34020957). The SRP complex interacts with the signal sequence in nascent secretory and membrane proteins and directs them to the membrane of the ER (PubMed:34020957). The SRP complex targets the ribosome-nascent chain complex to the SRP receptor (SR), which is anchored in the ER, where SR compaction and GTPase rearrangement drive cotranslational protein translocation into the ER (PubMed:34020957). Binds the signal recognition particle RNA (7SL RNA) in presence of SRP68 (PubMed:21073748, PubMed:27899666). Can bind 7SL RNA with low affinity (PubMed:21073748, PubMed:27899666). The SRP complex possibly participates in the elongation arrest function (By similarity)

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.