Entity Details

Primary name EMC1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8N766
EntryNameEMC1_HUMAN
FullNameER membrane protein complex subunit 1
TaxID9606
Evidenceevidence at protein level
Length993
SequenceStatuscomplete
DateCreated2006-09-05
DateModified2021-06-02

Ontological Relatives

GenesEMC1

GO terms

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GOName
GO:0005789 endoplasmic reticulum membrane
GO:0016021 integral component of membrane
GO:0030176 integral component of endoplasmic reticulum membrane
GO:0032991 protein-containing complex
GO:0045050 protein insertion into ER membrane by stop-transfer membrane-anchor sequence
GO:0071816 tail-anchored membrane protein insertion into ER membrane
GO:0072546 EMC complex

Subcellular Location

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Subcellular Location
Endoplasmic reticulum membrane

Domains

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DomainNameCategoryType
IPR002372 Pyrrolo-quinoline quinone repeatRepeatRepeat
IPR011047 Quinoprotein alcohol dehydrogenase-like superfamilyFamilyHomologous superfamily
IPR011678 ER membrane protein complex subunit 1, C-terminalDomainDomain
IPR026895 ER membrane protein complex subunit 1FamilyFamily

Diseases

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Disease IDSourceNameDescription
616875 OMIMCerebellar atrophy, visual impairment, and psychomotor retardation (CAVIPMR)An autosomal recessive, neurodegenerative disorder characterized by developmental delay, intellectual disability, hypotonia, scoliosis, cerebellar atrophy, and variable dysmorphic features. The disease is caused by variants affecting the gene represented in this entry.