KIRREL

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KIRREL
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases KIRREL, NEPH1, kin of IRRE like (Drosophila), Kin of IRRE-like protein 1
External IDs MGI: 1891396 HomoloGene: 10089 GeneCards: 55243
Genetically Related Diseases
Disease Name References
obesity
RNA expression pattern
PBB GE KIRREL 220825 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001286349
NM_018240

NM_001170985
NM_130867

RefSeq (protein)

NP_001273278.1
NP_060710.3

NP_001164456.1
NP_570937.2

Location (UCSC) Chr 1: 157.99 – 158.1 Mb Chr 3: 87.08 – 87.17 Mb
PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Kin of IRRE-like protein 1, also known as NEPH1, is a protein that in humans is encoded by the KIRREL gene.[1][2]

Function[edit]

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][2]

Interactions[edit]

KIRREL has been shown to interact with Nephrin[3][4] and Tight junction protein 1.[3][5]

References[edit]

  1. ^ 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. 
  2. ^ a b "Entrez Gene: KIRREL kin of IRRE like (Drosophila)". 
  3. ^ a b 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. 
  4. ^ 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. 
  5. ^ 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[edit]