KIRREL

KIRREL
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4OFD
Identifiers
Aliases	KIRREL, NEPH1, kin of IRRE like (Drosophila), Kin of IRRE-like protein 1
External IDs	MGI: 1891396 HomoloGene: 10089 GeneCards: KIRREL
Genetically Related Diseases
obesity
Gene ontology Molecular function • myosin binding • protein binding Cellular component • dendritic shaft • integral component of membrane • perinuclear region of cytoplasm • membrane raft • plasma membrane • extracellular exosome • membrane • cell projection membrane • cell-cell junction Biological process • negative regulation of protein phosphorylation • single organismal cell-cell adhesion • excretion • positive regulation of actin filament polymerization Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	55243	170643
Ensembl	ENSG00000183853	ENSMUSG00000041734
UniProt	Q96J84	Q80W68
RefSeq (mRNA)	NM_001286349 NM_018240	NM_001170985 NM_130867
RefSeq (protein)	NP_001273278 NP_060710	NP_001164456.1 NP_570937.2 NP_001164456 NP_570937
Location (UCSC)	Chr 1: 157.99 – 158.1 Mb	Chr 3: 87.08 – 87.17 Mb
PubMed search

4OFD

55243

170643

ENSG00000183853

ENSMUSG00000041734

Q96J84

Q80W68

NM_001286349
NM_018240

NM_001170985
NM_130867

NP_001273278
NP_060710

NP_001164456.1
NP_570937.2
NP_001164456
NP_570937

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

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]

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