Entity Details

Primary name GRB1L_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9C091
EntryNameGRB1L_HUMAN
FullNameGREB1-like protein
TaxID9606
Evidenceevidence at protein level
Length1923
SequenceStatuscomplete
DateCreated2008-02-26
DateModified2021-06-02

Ontological Relatives

GenesGREB1L

GO terms

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GOName
GO:0001822 kidney development
GO:0007275 multicellular organism development
GO:0016021 integral component of membrane

Subcellular Location

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Subcellular Location
Membrane

Domains

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DomainNameCategoryType
IPR024840 GREB1-likeFamilyFamily
IPR028422 GREB1FamilyFamily

Diseases

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Disease IDSourceNameDescription
617805 OMIMRenal hypodysplasia/aplasia 3 (RHDA3)A severe, autosomal dominant disease encompassing a spectrum of kidney development defects. Clinical manifestations are highly variable and include bilateral or unilateral renal agenesis, renal aplasia, hypoplasia, (cystic) dysplasia, severe obstructive uropathy, and vesicoureteral reflux. Bilateral renal agenesis is almost invariably fatal in utero or in the perinatal period. Unilateral renal agenesis can lead to future health issues including end-stage renal disease. The disease is caused by variants affecting the gene represented in this entry.

Interactions

0 interactions

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