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HACE1

Chr 6q16.3

HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1

Aliases:
KIAA1320
MANE:
ENST00000262903.9
OMIM: 610876 ↗NCBI: 57531 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Childhood onset hereditary spastic paraplegia

    BIALLELIC, autosomal or pseudoautosomal

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal

  • Early onset or syndromic epilepsy

    BIALLELIC, autosomal or pseudoautosomal

  • Hereditary spastic paraplegia

    BIALLELIC, autosomal or pseudoautosomal

  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

  • Adult onset hereditary spastic paraplegia

    BIALLELIC, autosomal or pseudoautosomal

  • Adult onset neurodegenerative disorder

    BIALLELIC, autosomal or pseudoautosomal

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • spastic paraplegia-severe developmental delay-epilepsy syndrome

    0.78

  • Seizure

    0.57

  • Spastic paraplegia

    0.49

  • alcohol drinking

    0.36

  • Intellectual disability

    0.34

  • Global developmental delay

    0.33

  • Generalized hypotonia

    0.33

  • neuroblastoma

    0.33

  • Abnormality of the skeletal system

    0.32

  • smoking initiation

    0.31

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

Protein function (UniProt)

E3 ubiquitin-protein ligase HACE1

E3 ubiquitin-protein ligase involved in Golgi membrane fusion and regulation of small GTPases (PubMed:15254018, PubMed:21988917, PubMed:22036506, PubMed:37537642, PubMed:38332367). Acts as a regulator of Golgi membrane dynamics during the cell cycle: recruited to Golgi membrane by Rab proteins and regulates postmitotic Golgi membrane fusion (PubMed:21988917). Acts by mediating ubiquitination during mitotic Golgi disassembly, ubiquitination serving as a signal for Golgi reassembly later, after cell division (PubMed:21988917). Specifically binds GTP-bound RAC1, mediating ubiquitination and subsequent degradation of active RAC1, thereby playing a role in host defense against pathogens (PubMed:22036506, PubMed:37537642, PubMed:38332367). May also act as a transcription regulator via its interaction with RARB (By similarity)

Diseases associated with HACE1

Curated MONDO disease pages that list HACE1 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.