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SHANK1

Chr 19q13.33

SH3 and multiple ankyrin repeat domains 1

Aliases:
SSTRIP, SPANK-1, synamon
MANE:
ENST00000293441.6
OMIM: 604999 ↗NCBI: 50944 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • Intellectual disability

    0.55

  • neurodevelopmental disorder

    0.51

  • autism

    0.51

  • hereditary disease

    0.50

  • complex neurodevelopmental disorder

    0.44

  • alcohol drinking

    0.16

  • Hearing impairment

    0.12

  • multiple congenital anomalies/dysmorphic syndrome

    0.12

  • non-small cell lung carcinoma

    0.08

  • early-onset non-syndromic cataract

    0.08

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

Protein function (UniProt)

SH3 and multiple ankyrin repeat domains protein 1

Seems to be an adapter protein in the postsynaptic density (PSD) of excitatory synapses that interconnects receptors of the postsynaptic membrane including NMDA-type and metabotropic glutamate receptors via complexes with GKAP/PSD-95 and Homer, respectively, and the actin-based cytoskeleton. Plays a role in the structural and functional organization of the dendritic spine and synaptic junction

Diseases associated with SHANK1

Curated MONDO disease pages that list SHANK1 among their top associated genes.

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.