Entity Details

Primary name RSPRY_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ96DX4
EntryNameRSPRY_HUMAN
FullNameRING finger and SPRY domain-containing protein 1
TaxID9606
Evidenceevidence at protein level
Length576
SequenceStatuscomplete
DateCreated2007-02-20
DateModified2021-06-02

Ontological Relatives

GenesRSPRY1

GO terms

Show/Hide Table
GOName
GO:0004842 ubiquitin-protein transferase activity
GO:0005576 extracellular region
GO:0005737 cytoplasm
GO:0046872 metal ion binding
GO:0051603 proteolysis involved in cellular protein catabolic process

Subcellular Location

Show/Hide Table
Subcellular Location
Secreted

Domains

Show/Hide Table
DomainNameCategoryType
IPR001841 Zinc finger, RING-typeDomainDomain
IPR001870 B30.2/SPRY domainDomainDomain
IPR003877 SPRY domainDomainDomain
IPR013083 Zinc finger, RING/FYVE/PHD-typeFamilyHomologous superfamily
IPR013320 Concanavalin A-like lectin/glucanase domain superfamilyFamilyHomologous superfamily
IPR016024 Armadillo-type foldFamilyHomologous superfamily
IPR035774 RING finger and SPRY domain-containing protein 1, SPRY domainDomainDomain
IPR043136 B30.2/SPRY domain superfamilyFamilyHomologous superfamily

Diseases

Show/Hide Table
Disease IDSourceNameDescription
616723 OMIMSpondyloepimetaphyseal dysplasia, Faden-Alkuraya type (SEMDFA)An autosomal recessive skeletal disorder characterized by spondyloepimetaphyseal dysplasia, short stature, facial dysmorphism, short fourth metatarsals, and intellectual disability. The disease is caused by variants affecting the gene represented in this entry.

Interactions

4 interactions