KIRREL1 (kirre like nephrin family adhesion molecule 1)

Gene

• Entrez ID: 55243
• Gene name: Kirre like nephrin family adhesion molecule 1
• Gene symbol: KIRREL1
• Synonyms (NCBI Gene): KIRREL, NEPH1, NPHS23
• Chromosome: 1
• Chromosome location: 1q23.1
• 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 po

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT619314	hsa-miR-8485	HITS-CLIP	23824327
MIRT619313	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT619312	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT619311	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT619310	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT619309	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT619308	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT619307	hsa-miR-155-3p	HITS-CLIP	23824327
MIRT619306	hsa-miR-3685	HITS-CLIP	23824327
MIRT619314	hsa-miR-8485	HITS-CLIP	23824327
MIRT619313	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT619312	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT619311	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT619310	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT619309	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT619308	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT619307	hsa-miR-155-3p	HITS-CLIP	23824327
MIRT619306	hsa-miR-3685	HITS-CLIP	23824327

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003094	Process	Glomerular filtration	IMP	31472902
GO:0005515	Function	Protein binding	IPI	21402783, 22262837, 33961781
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	21402783
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005911	Component	Cell-cell junction	IBA
GO:0005911	Component	Cell-cell junction	IDA	21402783
GO:0005911	Component	Cell-cell junction	IEA
GO:0016020	Component	Membrane	IEA
GO:0017022	Function	Myosin binding	IPI	21402783
GO:0030838	Process	Positive regulation of actin filament polymerization	IEA
GO:0043198	Component	Dendritic shaft	IEA
GO:0045217	Process	Cell-cell junction maintenance	IMP	31472902
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	21402783
GO:0050839	Function	Cell adhesion molecule binding	IBA
GO:0097017	Process	Renal protein absorption	IEA
GO:0098609	Process	Cell-cell adhesion	IBA
GO:0098609	Process	Cell-cell adhesion	IEA

Other IDs

• MIM: 607428
• HGNC: 15734
• e!Ensembl: ENSG00000183853

Protein

• UniProt ID: Q96J84
• Protein name: Kin of IRRE-like protein 1 (Kin of irregular chiasm-like protein 1) (Nephrin-like protein 1)
• Protein function: Required for proper function of the glomerular filtration barrier. It is involved in the maintenance of a stable podocyte architecture with interdigitating foot processes connected by specialized cell-cell junctions, known as the slit diaphragm
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07679	I-set	21 → 118	Immunoglobulin I-set domain	Domain
  PF08205	C2-set_2	118 → 209	CD80-like C2-set immunoglobulin domain	Domain
  PF13927	Ig_3	307 → 374		Domain

• Tissue specificity: TISSUE SPECIFICITY: Abundantly expressed in kidney. Specifically expressed in podocytes of kidney glomeruli. {ECO:0000269|PubMed:11416156}.
• Sequence:

  MLSLLVWILTLSDTFSQGTQTRFSQEPADQTVVAGQRAVLPCVLLNYSGIVQWTKDGLAL
  GMGQGLKAWPRYRVVGSADAGQYNLEITDAELSDDASYECQATEAALRSRRAKLTVLIPP
  EDTRIDGGPVILLQAGTPHNLTCRAFNAKPAATIIWFRDGTQQEGAVASTELLKDGKRET
  TVSQLLINPTDLDIGRVFTCRSMNEAIPSGKETSIELDVHHPPTVTLSIEPQTVQEGERV
  VFTCQATANPEILGYRWAKGGFLIEDAHESRYETNVDYSFFTEPVSCEVHNKVGSTNVST
  LVNVHFAPRIVVDPKPTTTDIGSDVTLTCVWVGNPPLTLTWTKKDSNMVLSNSNQLLLKS
  VTQADAGTYTCRAIVPRIGVAEREVPLYVNGPPIISSEAVQYAVRGDGGKVECFIGSTPP
  PDRIAWAWKENFLEVGTLERYTVERTNSGSGVLSTLTINNVMEADFQTHYNCTAWNSFGP
  GTAIIQLEEREVLPVGIIAGATIGASILLIFFFIALVFFLYRRRKGSRKDVTLRKLDIKV
  ETVNREPLTMHSDREDDTASVSTATRVMKAIYSSFKDDVDLKQDLRCDTIDTREEYEMKD
  PTNGYYNVRAHEDRPSSRAVLYADYRAPGPARFDGRPSSRLSHSSGYAQLNTYSRGPASD
  YGPEPTPPGPAAPAGTDTTSQLSYENYEKFNSHPFPGAAGYPTYRLGYPQAPPSGLERTP
  YEAYDPIGKYATATRFSYTSQHSDYGQRFQQRMQTHV

• Sequence length: 757

Pathways

Reactome:

Nephrin family interactions

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Nephrotic syndrome, type 23	Pathogenic	rs764090370, rs139995772	RCV001293781 RCV001293782	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIRREL1-related disorder	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE MYELOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinogenesis	Carcinogenesis	Pubtator	29049217	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	17968527		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	17968527		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	LHGDN	17968527		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	16628251		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	24133624		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	24133624	Associate	★☆☆☆☆ Found in Text Mining only
Histiocytoma, Benign Fibrous	Benign fibrous histiocytoma	BEFREE	26121314		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	28935902		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29717104		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	LHGDN	16968734		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	29022109		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	28560411		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	29049217	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	28935902		★☆☆☆☆ Found in Text Mining only
Steroid resistant nephrotic syndrome of childhood	Steroid resistant nephrotic syndrome	BEFREE	31472902		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29717104		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	29717104, 37909722	Associate	★☆☆☆☆ Found in Text Mining only