Entity Details

Primary name SSRD_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP51571
EntryNameSSRD_HUMAN
FullNameTranslocon-associated protein subunit delta
TaxID9606
Evidenceevidence at protein level
Length173
SequenceStatuscomplete
DateCreated1996-10-01
DateModified2021-06-02

Ontological Relatives

GenesSSR4

GO terms

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GOName
GO:0005783 endoplasmic reticulum
GO:0005784 Sec61 translocon complex
GO:0012505 endomembrane system
GO:0016021 integral component of membrane
GO:0070062 extracellular exosome

Subcellular Location

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Subcellular Location
Endoplasmic reticulum membrane

Domains

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DomainNameCategoryType
IPR008855 Translocon-associatedFamilyFamily

Diseases

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Disease IDSourceNameDescription
300934 OMIMCongenital disorder of glycosylation 1Y (CDG1Y)A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. The disease is caused by variants affecting the gene represented in this entry.