Entity Details

Primary name HECW2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9P2P5
EntryNameHECW2_HUMAN
FullNameE3 ubiquitin-protein ligase HECW2
TaxID9606
Evidenceevidence at protein level
Length1572
SequenceStatuscomplete
DateCreated2007-02-20
DateModified2021-06-02

Ontological Relatives

GenesHECW2

GO terms

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GOName
GO:0000209 protein polyubiquitination
GO:0005737 cytoplasm
GO:0016567 protein ubiquitination
GO:0030071 regulation of mitotic metaphase/anaphase transition
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process
GO:0045732 positive regulation of protein catabolic process
GO:0048814 regulation of dendrite morphogenesis
GO:0061630 ubiquitin protein ligase activity
GO:0072686 mitotic spindle
GO:2000650 negative regulation of sodium ion transmembrane transporter activity

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR000008 C2 domainDomainDomain
IPR000569 HECT domainDomainDomain
IPR001202 WW domainDomainDomain
IPR032348 E3 ubiquitin-protein ligase HECW1/2, N-terminalDomainDomain
IPR035892 C2 domain superfamilyFamilyHomologous superfamily
IPR035983 HECT, E3 ligase catalytic domainFamilyHomologous superfamily
IPR036020 WW domain superfamilyFamilyHomologous superfamily
IPR037795 E3 ubiquitin-protein ligase HECW, C2 domainDomainDomain
IPR040524 E3 ubiquitin-protein ligase HECW1, helical box domainDomainDomain

Diseases

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Disease IDSourceNameDescription
617268 OMIMNeurodevelopmental disorder with hypotonia, seizures, and absent language (NDHSAL)A neurodevelopmental disorder characterized by severely delayed psychomotor development, absent speech, epilepsy, encephalopathy, hypotonia, dystonia/dyskinesia, and macrocephaly. Brain imaging show cerebral atrophy, enlarged ventricles, and white matter abnormalities. The disease is caused by variants affecting the gene represented in this entry.