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SOCS1

Chr 16p13.13

suppressor of cytokine signaling 1

Aliases:
SOCS-1, SSI-1, JAB, TIP3, Cish1
MANE:
ENST00000332029.4

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Primary immunodeficiency or monogenic inflammatory bowel disease

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • COVID-19 research

    Unknown

Disease associations (Open Targets)

  • autoinflammatory syndrome with immunodeficiency

    0.71
  • diffuse large B-cell lymphoma

    0.53
  • psoriasis

    0.45
  • common variable immunodeficiency

    0.39
  • lymphoma

    0.38
  • psoriasis vulgaris

    0.38
  • Hodgkins lymphoma

    0.37
  • lymphoid neoplasm

    0.37
  • non-functioning pituitary adenoma

    0.37
  • neoplasm of mature B-cells

    0.37

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

Protein function (UniProt)

Suppressor of cytokine signaling 1

Essential negative regulator of type I and type II interferon (IFN) signaling, as well as that of other cytokines, including IL2, IL4, IL6 and leukemia inhibitory factor (LIF) (PubMed:32499645, PubMed:33087723). Downregulates cytokine signaling by inhibiting the JAK/STAT signaling pathway. Acts by binding to JAK proteins and to IFNGR1 and inhibiting their kinase activity. In vitro, suppresses Tec protein-tyrosine activity (PubMed:9341160). Regulates IFN-gamma (IFNG)-mediated sensory neuron survival (By similarity). Probable substrate recognition component of an ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:11278610, PubMed:11313480)

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.