KIRREL

Kin of IRRE-like protein 1, also known as NEPH1, is a protein that in humans is encoded by the KIRREL gene.[5][6]

KIRREL1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesKIRREL1, NEPH1, KIRREL, kin of IRRE like (Drosophila), Kin of IRRE-like protein 1, kirre like nephrin family adhesion molecule 1
External IDsOMIM: 607428 MGI: 1891396 HomoloGene: 10089 GeneCards: KIRREL1
Gene location (Human)
Chr.Chromosome 1 (human)[1]
Band1q23.1Start157,993,273 bp[1]
End158,100,262 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

55243

170643

Ensembl

ENSG00000183853

ENSMUSG00000041734

UniProt

Q96J84

Q80W68

RefSeq (mRNA)

NM_001286349
NM_018240

NM_001170985
NM_130867
NM_001377046

RefSeq (protein)

NP_001273278
NP_060710

NP_001164456
NP_570937
NP_001363975

Location (UCSC)Chr 1: 157.99 – 158.1 MbChr 3: 87.08 – 87.17 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

NEPH1 is a member of the NEPH protein family, which includes NEPH2 (KIRREL3, MIM 607761) and NEPH3 (KIRREL2, MIM 607762). The cytoplasmic domains of these proteins interact with the C terminus of podocin (NPHS2; MIM 604766). NEPH1 is expressed in filtration slits of kidney podocytes, cells involved in ensuring size- and charge-selective ultrafiltration of blood (Sellin et al., 2003). [supplied by OMIM][6]

Interactions

KIRREL has been shown to interact with Nephrin[7][8] and Tight junction protein 1.[7][9]

References

  1. GRCh38: Ensembl release 89: ENSG00000183853 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000041734 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Sellin L, Huber TB, Gerke P, Quack I, Pavenstädt H, Walz G (Jan 2003). "NEPH1 defines a novel family of podocin interacting proteins". FASEB J. 17 (1): 115–7. doi:10.1096/fj.02-0242fje. PMID 12424224. S2CID 17732086.
  6. "Entrez Gene: KIRREL kin of IRRE like (Drosophila)".
  7. Liu G, Kaw B, Kurfis J, Rahmanuddin S, Kanwar YS, Chugh SS (Jul 2003). "Neph1 and nephrin interaction in the slit diaphragm is an important determinant of glomerular permeability". J. Clin. Invest. 112 (2): 209–21. doi:10.1172/JCI18242. PMC 164293. PMID 12865409.
  8. Gerke P, Huber TB, Sellin L, Benzing T, Walz G (Apr 2003). "Homodimerization and heterodimerization of the glomerular podocyte proteins nephrin and NEPH1". J. Am. Soc. Nephrol. 14 (4): 918–26. doi:10.1097/01.ASN.0000057853.05686.89. PMID 12660326.
  9. Huber TB, Schmidts M, Gerke P, Schermer B, Zahn A, Hartleben B, Sellin L, Walz G, Benzing T (Apr 2003). "The carboxyl terminus of Neph family members binds to the PDZ domain protein zonula occludens-1". J. Biol. Chem. 278 (15): 13417–21. doi:10.1074/jbc.C200678200. PMID 12578837.

Further reading


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