Entity Details

Primary name HERC1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ15751
EntryNameHERC1_HUMAN
FullNameProbable E3 ubiquitin-protein ligase HERC1
TaxID9606
Evidenceevidence at protein level
Length4861
SequenceStatuscomplete
DateCreated2008-04-08
DateModified2021-06-02

Ontological Relatives

GenesHERC1

GO terms

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GOName
GO:0004842 ubiquitin-protein transferase activity
GO:0005085 guanyl-nucleotide exchange factor activity
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0010507 negative regulation of autophagy
GO:0016020 membrane
GO:0021702 cerebellar Purkinje cell differentiation
GO:0031175 neuron projection development
GO:0050885 neuromuscular process controlling balance

Subcellular Location

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Subcellular Location
Cytoplasm
Golgi apparatus
Membrane

Domains

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DomainNameCategoryType
IPR000408 Regulator of chromosome condensation, RCC1RepeatRepeat
IPR000569 HECT domainDomainDomain
IPR001680 WD40 repeatRepeatRepeat
IPR001870 B30.2/SPRY domainDomainDomain
IPR003877 SPRY domainDomainDomain
IPR009091 Regulator of chromosome condensation 1/beta-lactamase-inhibitor protein IIFamilyHomologous superfamily
IPR013320 Concanavalin A-like lectin/glucanase domain superfamilyFamilyHomologous superfamily
IPR015943 WD40/YVTN repeat-like-containing domain superfamilyFamilyHomologous superfamily
IPR019775 WD40 repeat, conserved siteSiteConserved site
IPR035768 HERC1, SPRY domainDomainDomain
IPR035983 HECT, E3 ligase catalytic domainFamilyHomologous superfamily
IPR036322 WD40-repeat-containing domain superfamilyFamilyHomologous superfamily
IPR043136 B30.2/SPRY domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
617011 OMIMMacrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR)An autosomal recessive syndrome characterized by large head and somatic overgrowth, intellectual disability, and facial dysmorphism. Seizures, hypotonia and ataxic gait are observed in some patients. The disease is caused by variants affecting the gene represented in this entry.