KIRREL1 (kirre like nephrin family adhesion molecule 1)

2017-09-01  

Identity

HGNC
LOCATION
1q23.1
LOCUSID
ALIAS
KIRREL,NEPH1,NPHS23

Other Information

Locus ID:

NCBI: 55243
MIM: 607428
HGNC: 15734
Ensembl: ENSG00000183853

Variants:

dbSNP: 55243
ClinVar: 55243
TCGA: ENSG00000183853
COSMIC: KIRREL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000183853ENST00000359209Q96J84
ENSG00000183853ENST00000360089Q5W0F9
ENSG00000183853ENST00000368172Q5W0G0
ENSG00000183853ENST00000368173B4DN67

Pathways

PathwaySourceExternal ID
Cell-Cell communicationREACTOMER-HSA-1500931
Nephrin interactionsREACTOMER-HSA-373753

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
379097222024KIRREL promotes the proliferation of gastric cancer cells and angiogenesis through the PI3K/AKT/mTOR pathway.0
379097222024KIRREL promotes the proliferation of gastric cancer cells and angiogenesis through the PI3K/AKT/mTOR pathway.0
351776232022Cell adhesion molecule KIRREL1 is a feedback regulator of Hippo signaling recruiting SAV1 to cell-cell contact sites.7
360448562022Transmembrane protein KIRREL1 regulates Hippo signaling via a feedback loop and represents a therapeutic target in YAP/TAZ-active cancers.3
351776232022Cell adhesion molecule KIRREL1 is a feedback regulator of Hippo signaling recruiting SAV1 to cell-cell contact sites.7
360448562022Transmembrane protein KIRREL1 regulates Hippo signaling via a feedback loop and represents a therapeutic target in YAP/TAZ-active cancers.3
325347102020Overexpression of kin of IRRE-Like protein 1 (KIRREL) as a prognostic biomarker for breast cancer.3
325347102020Overexpression of kin of IRRE-Like protein 1 (KIRREL) as a prognostic biomarker for breast cancer.3
314729022019Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome.10
314729022019Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome.10
270448632016Structural Analysis of the Myo1c and Neph1 Complex Provides Insight into the Intracellular Movement of Neph1.9
270448632016Structural Analysis of the Myo1c and Neph1 Complex Provides Insight into the Intracellular Movement of Neph1.9
245547152014Slit diaphragm protein Neph1 and its signaling: a novel therapeutic target for protection of podocytes against glomerular injury.24
245547152014Slit diaphragm protein Neph1 and its signaling: a novel therapeutic target for protection of podocytes against glomerular injury.24
222628372012Solution structure analysis of cytoplasmic domain of podocyte protein Neph1 using small/wide angle x-ray scattering (SWAXS).7

Citation

Dessen P

KIRREL1 (kirre like nephrin family adhesion molecule 1)

Atlas Genet Cytogenet Oncol Haematol. 2017-09-01

Online version: http://atlasgeneticsoncology.org/gene/79331/kirrel1-(kirre-like-nephrin-family-adhesion-molecule-1)