KIRREL1 (kirre like nephrin family adhesion molecule 1)

2017-09-01  

Identity

HGNC
KIRREL1
LOCATION
1q23.1
LOCUSID
55243
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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
185623072008Neph-Nephrin proteins bind the Par3-Par6-atypical protein kinase C (aPKC) complex to regulate podocyte cell polarity.49
214027832011Motor protein Myo1c is a podocyte protein that facilitates the transport of slit diaphragm protein Neph1 to the podocyte membrane.43
189228012008Ischemic injury to kidney induces glomerular podocyte effacement and dissociation of slit diaphragm proteins Neph1 and ZO-1.35
182585972008Neph1, a component of the kidney slit diaphragm, is tyrosine-phosphorylated by the Src family tyrosine kinase and modulates intracellular signaling by binding to Grb2.34
205079402010Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome.30
245547152014Slit diaphragm protein Neph1 and its signaling: a novel therapeutic target for protection of podocytes against glomerular injury.16
270448632016Structural Analysis of the Myo1c and Neph1 Complex Provides Insight into the Intracellular Movement of Neph1.7
179685272008Association analysis of podocyte slit diaphragm genes as candidates for diabetic nephropathy.6
179685272008Association analysis of podocyte slit diaphragm genes as candidates for diabetic nephropathy.6
222628372012Solution structure analysis of cytoplasmic domain of podocyte protein Neph1 using small/wide angle x-ray scattering (SWAXS).6

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