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KIRREL1 - kirre like nephrin family adhesion molecule 1 Gene

Also Known as NEPH1; KIRREL; NPHS23

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55243

About KIRREL1

Cytogenetic location: 1q23.1 Genomic coordinates (GRCh38): 1:157,993,645-158,100,262 (from NCBI)

This gene has 4 transcripts (splice variants), 280 orthologues, 3 paralogues and is associated with 1 phenotype. Ubiquitous expression in placenta (RPKM 3.8), gall bladder (RPKM 3.0) and 22 other tissues.

Summary

NEPH1 is a member of the nephrin-like protein family, which includes NEPH2 (MIM 607761) and NEPH3 (MIM 607762). The cytoplasmic domains of these proteins interact with the C terminus of podocin (NPHS2; MIM 604766), and the genes are expressed in kidney podocytes, cells involved in ensuring size- and charge-selective ultrafiltration (Sellin et al., 2003 [PubMed 12424224]).[supplied by OMIM, Mar 2008]

KIRREL1 Products (2)

mRNA	Protein	Name
NM_001286349.2	NP_001273278.1	kin of IRRE-like protein 1 isoform 2 precursor
NM_018240.7	NP_060710.3	kin of IRRE-like protein 1 isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables myosin binding	IPI IPI: Inferred from physical interaction	21402783	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21402783	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cell-cell junction maintenance	IMP IMP: Inferred from mutant phenotype	31472902	GOA
involved in glomerular filtration	IMP IMP: Inferred from mutant phenotype	31472902	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cell-cell junction	IDA IDA: Inferred from direct assay	21402783	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	21402783	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	21402783	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KIRREL1 Protein Structure

I-set

C2-set_2

Ig_2

Ig_3

0
200
400
600
757 a.a.

Protein Preferred Names	Protein Names
kin of IRRE-like protein 1	kin of IRRE like

KIRREL1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	KIRREL1	Q96J84	TJP1	Homo sapiens	Q07157	Anti Tag CoIP	22262837
Intra	KIRREL1	Q96J84	TJP1	Homo sapiens	Q07157	Anti Bait CoIP	22262837
Intra	KIRREL1	Q96J84	TJP1	Homo sapiens	Q07157	SAXS	22262837
Intra	KIRREL1	Q96J84	TJP1	Homo sapiens	Q07157	GMS	22262837

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant KIRREL1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76467	Kirrel1/NEPH1 Protein, Human (HEK293, Fc)	Q96J84-1 (Q17-L493)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P76468	Kirrel1/NEPH1 Protein, Human (HEK293, His)	Q96J84-1 (Q17-L493)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Nephrotic Syndrome, Type 23	NPHS23 Nephrotic Syndrome Type 23 Nephrotic Syndrome 23
Nephrotic Syndrome	Finnish Congenital Nephrotic Syndrome Ns - [Nephrotic Syndrome] Nephrosis Syndrome Nephrosis Nos Glomerular Lesion Nephrosis
Nephrotic Syndrome, Type 1	Finnish Congenital Nephrosis NPHS1 Cnf Finnish Congenital Nephrotic Syndrome Nephrotic Syndrome Type 1 Nephrosis, Congenital Congenital Nephrotic Syndrome Nephrotic Syndrome, Congenital Congenital Nephrotic Syndrome Finnish Type Congenital Nephrotic Syndrome 1 Nephrosis 1, Congenital, Finnish Type Congenital Nephrotic Syndrome, Finnish Type Nephrotic Syndrome 1 Congenital Nephrotic Syndrome Of The Finnish Type
Familial Nephrotic Syndrome	Congenital Nephrotic Syndrome Nephrosis, Congenital Finnish Congenital Nephrotic Syndrome
Focal Segmental Glomerulosclerosis	Familial Idiopathic Steroid-Resistant Nephrotic Syndrome Focal Glomerulosclerosis Fsgs Segmental Glomerulosclerosis Glomerulosclerosis, Focal Segmental Fgs Focal Glomerular Sclerosis Familial Idiopathic Nephrotic Syndrome Focal Sclerosis With Hyalinosis Glomerulosclerosis, Focal Glomerulosclerosis Focal Glomerulosclerosis, Segmental, Focal Focal Segmental Glomerulosclerosis, Not Otherwise Specified
Chronic Kidney Disease	Chronic Renal Disease Chronic Kidney Failure Ckd Chronic Renal Failure Kidney Failure, Chronic Chronic Renal Failure Syndrome Crf Renal Failure - Chronic Renal Failure Chronic Chronic Kidney Diseases Chronic Kidney Disease Stage 5 Ckd - [Chronic Kidney Disease] Crf - [Chronic Renal Failure] Chronic Kidney Impairment Chronic Renal Impairment Chronic Kidney Shutdown Chronic Hypoxic Kidney Failure Chronic Kidney Collapse Chronic Renal Insufficiency Chronic Kidney Toxaemia Chronic Kidney Hypofunction Chronic Renal Suppression Chronic Renal Failure, Stage 5 Ckd - [Chronic Kidney Disease] Stage 5 End Stage Kidney Failure End Stage Renal Failure End Stage Kidney Disease End Stage Renal Disease End Stage Chronic Renal Failure Esrf - [End Stage Renal Failure] Esrd - [End Stage Renal Diseases] Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07312	KIRREL1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18317	Kirrel1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24795	Kirrel1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	KIRREL1	MGD	MGI:1891396
Felis catus	KIRREL1	VGNC	VGNC:63122
Canis familiaris	KIRREL1	VGNC	VGNC:42418
Macaca mulatta	KIRREL1	VGNC	VGNC:73837
Rattus norvegicus	KIRREL1	RGD	RGD:727883
Bos taurus	KIRREL1	VGNC	VGNC:30614
Others	KIRREL1	NCBI