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 PDB Ortholog search: PDBe RCSB List of PDB id codes 4OFD
Identifiers
Aliases	KIRREL1, NEPH1, KIRREL, kin of IRRE like (Drosophila), Kin of IRRE-like protein 1, kirre like nephrin family adhesion molecule 1, NPHS23
External IDs	OMIM: 607428; MGI: 1891396; HomoloGene: 10089; GeneCards: KIRREL1; OMA:KIRREL1 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1q23.1 Start 157,993,273 bp[1] End 158,100,262 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3|3 F1 Start 86,985,900 bp[2] End 87,082,054 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in stromal cell of endometrium right coronary artery Descending thoracic aorta popliteal artery tibial arteries ascending aorta gallbladder left coronary artery left uterine tube right ovary Top expressed in calvaria molar umbilical cord stroma of bone marrow epithelium of lens hand body of femur endothelial cell of lymphatic vessel vas deferens foot More reference expression data BioGPS More reference expression data
Gene ontology Molecular function myosin binding protein binding Cellular component dendritic shaft integral component of membrane perinuclear region of cytoplasm membrane raft plasma membrane membrane cell projection membrane cell-cell junction Biological process negative regulation of protein phosphorylation excretion positive regulation of actin filament polymerization cell-cell adhesion Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 Mb Chr 3: 86.99 – 87.08 Mb PubMed search [3] [4]
Wikidata
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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]