Entity Details

Primary name SRP72_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO76094
EntryNameSRP72_HUMAN
FullNameSignal recognition particle subunit SRP72
TaxID9606
Evidenceevidence at protein level
Length671
SequenceStatuscomplete
DateCreated1998-12-15
DateModified2021-06-02

Ontological Relatives

GenesSRP72

GO terms

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GOName
GO:0003723 RNA binding
GO:0005047 signal recognition particle binding
GO:0005783 endoplasmic reticulum
GO:0005786 signal recognition particle, endoplasmic reticulum targeting
GO:0005829 cytosol
GO:0006614 SRP-dependent cotranslational protein targeting to membrane
GO:0008312 7S RNA binding
GO:0030911 TPR domain binding
GO:0048500 signal recognition particle

Subcellular Location

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Subcellular Location
Cytoplasm
Endoplasmic reticulum

Domains

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DomainNameCategoryType
IPR011990 Tetratricopeptide-like helical domain superfamilyFamilyHomologous superfamily
IPR013699 Signal recognition particle, SRP72 subunit, RNA-bindingDomainDomain
IPR019734 Tetratricopeptide repeatRepeatRepeat
IPR026270 Signal recognition particle, SRP72 subunitFamilyFamily
IPR031545 Putative TPR-like repeatRepeatRepeat

Diseases

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Disease IDSourceNameDescription
614675 OMIMBone marrow failure syndrome 1 (BMFS1)An autosomal dominant disease characterized by aplastic anemia and myelodysplasia resulting from bone marrow failure. Aplastic anemia is a form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements. Myelodysplasia is a clonal hematopoietic stem cell disorder in which immature cells in the bone marrow become malformed and dysfunctional. The disease is caused by variants affecting the gene represented in this entry.