Entity Details

Primary name COPD_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP48444
EntryNameCOPD_HUMAN
FullNameCoatomer subunit delta
TaxID9606
Evidenceevidence at protein level
Length511
SequenceStatuscomplete
DateCreated1996-02-01
DateModified2021-06-02

Ontological Relatives

GenesARCN1

GO terms

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GOName
GO:0000139 Golgi membrane
GO:0003723 RNA binding
GO:0005789 endoplasmic reticulum membrane
GO:0005829 cytosol
GO:0006886 intracellular protein transport
GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport
GO:0006890 retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum
GO:0016020 membrane
GO:0030126 COPI vesicle coat
GO:0030133 transport vesicle
GO:0051645 Golgi localization

Subcellular Location

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Subcellular Location
Cytoplasm
Cytoplasmic vesicle
Golgi apparatus membrane

Domains

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DomainNameCategoryType
IPR011012 Longin-like domain superfamilyFamilyHomologous superfamily
IPR022775 AP complex, mu/sigma subunitDomainDomain
IPR027059 Coatomer delta subunitFamilyFamily
IPR028565 Mu homology domainDomainDomain
IPR036168 AP-2 complex subunit mu, C-terminal superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
617164 OMIMShort stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (SRMMD)A disorder characterized by facial dysmorphism, severe micrognathia, microcephaly, rhizomelic short stature, and mild developmental delay. The disease is caused by variants affecting the gene represented in this entry. the skeletal phenotype, that characterizes this disorder, may be due to defective type I collagen transport and reduction of collagen secretion.