Protein-coding gene in the species Homo sapiens
| KIRREL1 |
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| Available structures |
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| PDB | Ortholog search: PDBe RCSB |
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| Identifiers |
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| Aliases | KIRREL1, NEPH1, KIRREL, kin of IRRE like (Drosophila), Kin of IRRE-like protein 1, kirre like nephrin family adhesion molecule 1, NPHS23 |
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| External IDs | OMIM: 607428; MGI: 1891396; HomoloGene: 10089; GeneCards: KIRREL1; OMA:KIRREL1 - orthologs |
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| Gene location (Human) |
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 | | Chr. | Chromosome 1 (human)[1] |
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| | Band | 1q23.1 | Start | 157,993,273 bp[1] |
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| End | 158,100,262 bp[1] |
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| Gene location (Mouse) |
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 | | Chr. | Chromosome 3 (mouse)[2] |
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| | Band | 3|3 F1 | Start | 86,985,900 bp[2] |
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| End | 87,082,054 bp[2] |
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| RNA expression pattern |
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| Bgee | | Human | Mouse (ortholog) |
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| 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
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| | Top expressed in | - calvaria
- molar
- belly cord
- stroma of bone marrow
- epithelium of lens
- hand
- body of femur
- endothelial cell of lymphatic vessel
- vas deferens
- foot
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| | More reference expression data |
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| BioGPS |  | | More reference expression data |
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| Gene ontology |
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| 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 |
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| Orthologs |
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| Species | Human | Mouse |
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| Entrez | | |
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| Ensembl | | |
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| UniProt | | |
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| RefSeq (mRNA) | | |
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NM_001170985
NM_130867
NM_001377046 |
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| RefSeq (protein) | | |
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NP_001164456
NP_570937
NP_001363975 |
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| Location (UCSC) | Chr 1: 157.99 – 158.1 Mb | Chr 3: 86.99 – 87.08 Mb |
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| PubMed search | [3] | [4] |
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| Wikidata |
| View/Edit Human | View/Edit Mouse |
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Kin of IRRE-like protein 1, also known as NEPH1, is a protein that in humans is encoded by the KIRREL gene.[5][6]
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
- ^ a b c GRCh38: Ensembl release 89: ENSG00000183853 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000041734 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ 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.
- ^ a b "Entrez Gene: KIRREL kin of IRRE like (Drosophila)".
- ^ 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.
- ^ 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.
- ^ 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
- Donoviel DB, Freed DD, Vogel H, Potter DG, Hawkins E, Barrish JP, Mathur BN, Turner CA, Geske R, Montgomery CA, Starbuck M, Brandt M, Gupta A, Ramirez-Solis R, Zambrowicz BP, Powell DR (2001). "Proteinuria and perinatal lethality in mice lacking NEPH1, a novel protein with homology to NEPHRIN". Mol. Cell. Biol. 21 (14): 4829–36. doi:10.1128/MCB.21.14.4829-4836.2001. PMC 87176. PMID 11416156.
- Huber TB, Schmidts M, Gerke P, Schermer B, Zahn A, Hartleben B, Sellin L, Walz G, Benzing T (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.
- Barletta GM, Kovari IA, Verma RK, Kerjaschki D, Holzman LB (2003). "Nephrin and Neph1 co-localize at the podocyte foot process intercellular junction and form cis hetero-oligomers". J. Biol. Chem. 278 (21): 19266–71. doi:10.1074/jbc.M301279200. PMID 12646566.
- Gerke P, Huber TB, Sellin L, Benzing T, Walz G (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.
- Liu G, Kaw B, Kurfis J, Rahmanuddin S, Kanwar YS, Chugh SS (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.
- Brill LM, Salomon AR, Ficarro SB, Mukherji M, Stettler-Gill M, Peters EC (2004). "Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry". Anal. Chem. 76 (10): 2763–72. doi:10.1021/ac035352d. PMID 15144186.
- Kitamura A, Tsukaguchi H, Iijima K, Araki J, Hattori M, Ikeda M, Honda M, Nozu K, Nakazato H, Yoshikawa N, Kagami S, Muramatsu M, Choi Y, Cheong HI, Doi T (2007). "Genetics and clinical features of 15 Asian families with steroid-resistant nephrotic syndrome". Nephrol. Dial. Transplant. 21 (11): 3133–8. doi:10.1093/ndt/gfl347. PMID 16968734.
