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TCP1

Chr 6q25.3

t-complex 1

Aliases:
D6S230E, CCT1, Ccta
MANE:
ENST00000321394.12

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Early onset or syndromic epilepsy

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Malformations of cortical development

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • intellectual developmental disorder with polymicrogyria and seizures

    0.61
  • ZTTK syndrome

    0.12
  • neoplasm

    0.11
  • acute myeloid leukemia

    0.10
  • cancer

    0.10
  • hepatocellular carcinoma

    0.10
  • systemic lupus erythematosus

    0.07
  • diffuse large B-cell lymphoma

    0.07
  • Isolated anophthalmia - microphthalmia

    0.07
  • lymphoma

    0.07

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

Protein function (UniProt)

T-complex protein 1 subunit alpha

Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of actin, tubulin and other proteins upon ATP hydrolysis (PubMed:25467444, PubMed:36493755, PubMed:35449234, PubMed:37193829). The TRiC complex mediates the folding of WRAP53/TCAB1, thereby regulating telomere maintenance (PubMed:25467444). As part of the TRiC complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638)

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.