NPHP3 - nephrocystin 3 Gene

Also Known as MKS7; NPH3; RHPD; RHPD1; SLSN3; CFAP31

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 27031

About NPHP3

Cytogenetic location: 3q22.1 Genomic coordinates (GRCh38): 3:132,680,609-132,722,409 (from NCBI)

This gene has 14 transcripts (splice variants), 191 orthologues, 5 paralogues and is associated with 10 phenotypes. Ubiquitous expression in ovary (RPKM 12.5), endometrium (RPKM 10.4) and 25 other tissues.

Summary

This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine Ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin, it is required for normal ciliary development, and it functions in renal tubular development. Mutations in this gene are associated with nephronophthisis type 3, and also with renal-hepatic-pancreatic dysplasia, and Meckel syndrome type 7. Naturally occurring read-through transcripts exist between this gene and the downstream ACAD11 (acyl-CoA dehydrogenase family, member 11) gene. [provided by RefSeq, Feb 2011]

NPHP3 Products (1)

mRNA	Protein	Name
NM_153240.5	NP_694972.3	nephrocystin-3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12872122	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in atrial septum development	IMP IMP: Inferred from mutant phenotype	18371931	GOA
involved in convergent extension involved in gastrulation	IGI IGI: Inferred from genetic interaction	18371931	GOA
involved in determination of intestine left/right asymmetry	IMP IMP: Inferred from mutant phenotype	20007846	GOA
involved in determination of left/right symmetry	IMP IMP: Inferred from mutant phenotype	18371931	GOA
involved in determination of liver left/right asymmetry	IMP IMP: Inferred from mutant phenotype	20007846	GOA
involved in determination of pancreatic left/right asymmetry	IMP IMP: Inferred from mutant phenotype	20007846	GOA
involved in determination of stomach left/right asymmetry	IMP IMP: Inferred from mutant phenotype	18371931	GOA
involved in heart looping	IMP IMP: Inferred from mutant phenotype	18371931	GOA
involved in kidney development	IMP IMP: Inferred from mutant phenotype	20007846	GOA
involved in kidney morphogenesis	IMP IMP: Inferred from mutant phenotype	18371931	GOA
involved in lung development	IMP IMP: Inferred from mutant phenotype	20007846	GOA
involved in maintenance of animal organ identity	IMP IMP: Inferred from mutant phenotype	12872122	GOA
involved in negative regulation of canonical Wnt signaling pathway	IDA IDA: Inferred from direct assay	18371931	GOA
involved in photoreceptor cell maintenance	IMP IMP: Inferred from mutant phenotype	12872122	GOA
involved in regulation of Wnt signaling pathway, planar cell polarity pathway	IDA IDA: Inferred from direct assay	18371931	GOA
involved in ureter development	IMP IMP: Inferred from mutant phenotype	18371931	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cilium	IDA IDA: Inferred from direct assay	20462968	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

NPHP3 Protein Structure

NACHT

TPR_12

TPR_10

TPR_12

TPR_7

0
300
600
900
1200
1330 a.a.

Protein Preferred Names	Protein Names
nephrocystin-3	Meckel syndrome, type 7

NPHP3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	NPHP3	Q7Z494	CEP164	Homo sapiens	Q9UPV0	Anti Tag CoIP	22863007
Intra	NPHP3	Q7Z494	UNC119	Homo sapiens	Q13432	FPS	22960633
Intra	NPHP3	Q7Z494	UNC119	Homo sapiens	Q13432	TAP	27173435
Intra	NPHP3	Q7Z494	UNC119	Homo sapiens	Q13432	Anti Tag CoIP	33961781
Intra	NPHP3	Q7Z494	UNC119B	Homo sapiens	A6NIH7	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

NPHP3 Antibodies

Cat. No.	상품명	신청	Reactivity
HY-P89925	nephrocystin-3 Antibody (YA9269)	WB, IP, ELISA	human, mouse, rat

Related Diseases

Diseases	Alias
Meckel Syndrome, Type 7	Meckel Syndrome 7 Nphp3-Related Meckel-Like Syndrome MKS7 Goldston Syndrome Meckel Syndrome Type 7 Meckel-Like Syndrome Type 1 Renal-Hepatic-Pancreatic Dysplasia-Dandy-Walker Cysts Syndrome Renal Hepatic Pancreatic Dysplasia Dandy Walker Cyst Renal-Hepatic-Pancreatic Dysplasia With Dandy-Walker Cyst Meckel-Gruber Syndrome, Type 7 Dandy-Walker Cyst With Renal-Hepatic-Pancreatic Dysplasia
Nephronophthisis 3	NPHP3 Nph3 Adolescent Nephronophthisis Nephronophthisis, Type 3
Renal-Hepatic-Pancreatic Dysplasia 1	RHPD1 Rhpd Dysplasia, Renal-Hepatic-Pancreatic, Type 1
Renal-Hepatic-Pancreatic Dysplasia	Ivemark'S Syndrome Ivemark Ii Syndrome Renohepaticopancreatic Dysplasia
Juvenile Nephronophthisis	Nephronophthisis Nephronophthisis, Familial Juvenile
Late-Onset Nephronophthisis
Nephronophthisis	Medullary Cystic Disease Medullary Cystic Kidney Nph Nphp Kidney Disease, Cystic, Medullary
Polycystic Kidney Disease	Polycystic Kidney Diseases Pkd Polycystic Renal Disease Kidney Disease, Polycystic Polycystic Kidney, Autosomal Dominant
Infantile Nephronophthisis	Autosomal Recessive Infantile Nphp Autosomal Recessive Infantile Nephronophthisis Nephronophthisis 2
Senior-Loken Syndrome 1	Senior-Loken Syndrome Renal Dysplasia And Retinal Aplasia Renal-Retinal Syndrome Loken-Senior Syndrome Juvenile Nephronophthisis With Leber Amaurosis SLSN1 Senior-Loken Syndrome-1 Loken Senior Syndrome Senior Loken Syndrome Renal Dysplasia Retinal Aplasia Nephronophthisis With Retinal Dystrophy Renal Dysplasia-Retinal Aplasia Syndrome Slsn
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome
Nephronophthisis 2	NPHP2 Nph2 Nephronophthisis 2, Infantile Infantile Nephronophthisis 2 Infantile Nephronophthisis Nephronophthisis, Type 2
Cystic Kidney Disease	Renal Cyst Simple Renal Cyst Kidney Cysts Kidney Diseases, Cystic Renal Cysts Kidney Cyst Cystic Kidney Congenital Cystic Kidney Disease Cystic Kidney Diseases Bosniak 1 Cyst
Nephronophthisis 1	NPHP1 Nephronophthisis, Familial Juvenile Nph1 Nephronophthisis 1, Juvenile Juvenile Nephronophthisis 1 Familial Juvenile Nephronophthisis 1 Nephronophthisis, Type 1
Nephronophthisis 19	NPHP19 Nephronophthisis, Type 19
Situs Inversus	Situs Inversus Viscerum Laterality Sequence Complete Transposition Siv
Nephronophthisis 9	NPHP9 Nephronophthisis, Type 9
End Stage Renal Disease	End Stage Renal Failure End-Stage Kidney Disease Kidney Failure, Chronic Chronic Kidney Disease Stage 5
Joubert Syndrome 22	JBTS22 Joubert Syndrome, Type 22
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome
Renal Dysplasia, Cystic	CYSRD Renal Dysplasia, Cystic, Susceptibility To Diffuse Cystic Renal Dysplasia Renal Dysplasia Diffuse Cystic Cystic Renal Dysplasia Susceptibility To Cystic Renal Dysplasia Dysplasia, Renal, Cystic, Susceptibility To Multicystic Dysplastic Kidney
Caroli Disease	Caroli Disease Isolated Congenital Polycystic Dilatation Of Intrahepatic Bile Ducts Cystic Dilatation Of The Intrahepatic Biliary Tree Caroli Syndrome Carolis Disease
Meckel Syndrome, Type 1	Meckel-Gruber Syndrome Meckel Syndrome Dysencephalia Splanchnocystica Meckel Syndrome 1 MKS1 Mks Gruber Syndrome Meckel-Gruber Syndrome, Type 1 Mes Dysencephalia Splachnocystica Meckel Gruber Syndrome Meckel Syndrome Type 1
D-Glyceric Aciduria	D-Glyceric Acidemia D-Glycericacidemia Glycerate Kinase Deficiency D-Glycerate Kinase Deficiency Non Ketotic Hyperglycinemia Syndrome Deficiency Of Glycerate Kinase Hyperglycinemia, Non-Ketotic D-GA
Polydactyly	Non-Syndromic Polydactyly Polydactyly, Postaxial Postaxial Polydactyly Supernumerary Digit Extra Digits Hyperdactyly Polydactylia Polydactylism Supernumerary Digits
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Autosomal Recessive Polycystic Kidney Disease Arpkd Polycystic Kidney Disease, Autosomal Recessive Polycystic Kidney And Hepatic Disease 1 Pkhd1 PKD4 Polycystic Kidney Disease 4 With Or Without Hepatic Disease Polycystic Kidney Disease, Infantile, Type I Polycystic Kidney Disease, Infantile Type Polycystic Kidney, Autosomal Recessive Pkd3, Formerly Polycystic Kidney Disease 4, With Or Without Hepatic Disease Arpkd/Chf Ar-Pkd Polycystic Kidney Disease 4, With Or Without Polycystic Liver Disease Infantile Polycystic Kidney Disease Type I Pkd3 Kidney, Polycystic, Disease, Type 4, With/Without Hepatic Disease Polycystic Kidney Disease 3, Autosomal Dominant
Hydrocephalus	Hydrocephalus, Nonsyndromic, Autosomal Recessive Hydrocephalus, X-Linked Hydrocephalus Adverse Event Hydrocephaly Nos
Coach Syndrome 1	Coach Syndrome Joubert Syndrome With Congenital Hepatic Fibrosis Gentile Syndrome Joubert Syndrome With Hepatic Defect Js-H COACH1 Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, And Hepatic Fibrosis Cerebellar Vermis Hypoplasia-Oligophrenia-Congenital Ataxia-Coloboma-Hepatic Fibrosis Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Ataxia Congenital, Coloboma, And Hepatic Fibrosis Cerebellar Vermis Hypo/Aplasia Oligophrenia Congenital Ataxia Ocular Coloboma And Hepatic Fibrosis
Joubert Syndrome 5	JBTS5 Joubert Syndrome, Type 5
Visceral Heterotaxy	Situs Ambiguus Heterotaxia Heterotaxy Syndrome Heterotaxy Lateralization Defect Situs Ambiguous Left Isomerism Htx Ivemark Syndrome Right Isomerism Situs Ambiguus Viscerum Incomplete Situs Inversus Partial Situs Inversus Heterotaxy, Visceral Asplenia Syndrome Bilateral Left-Sidedness Polysplenia Syndrome Moller Syndrome
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Familial Juvenile Hyperuricemic Nephropathy Mckd2 Familial Juvenile Hyperuricemic Nephropathy Type 1 Fjhn Medullary Cystic Kidney Disease 2 Uromodulin-Associated Kidney Disease Medullary Cystic Kidney Disease Type 2 ADTKD1 Hnfj1 Glomerulocystic Kidney Disease With Hyperuricemia And Isosthenuria Adtkd-Umod Familial Juvenile Hyperuricemic Nephropathy 1 Umod-Related Adtkd Umod-Related Autosomal Dominant Tubulointerstitial Kidney Disease Hyperuricemic Nephropathy, Familial Juvenile, 1 Gouty Nephropathy, Familial Juvenile Medullary Cystic Kidney Disease 2, Autosomal Dominant Admckd2 Autosomal Dominant Tubulointerstitial Kidney Disease Due To Umod Mutations Adtkd Due To Umod Mutations Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related Autosomal Dominant Medullary Cystic Kidney Disease Type 2 Umod-Associated Kidney Disease Uromodulin Kidney Disease Familial Gout-Kidney Disease Familial Gouty Nephropathy Umak Umod-Related Kidney Disease Uromodulin Storage Disease Fjhn1 Gouty Nephropathy Familial Juvenile Nephropathy Familial With Gout Hyperuricemic Nephropathy, Familial Juvenile 1 Hyperuricemic Nephropathy, Familial Juvenile Kidney Disease, Glomerulocystic, With Hyperuricemia And Isosthenuria Nephropathy, Hyperuricemic, Juvenile, Familial, Type 1 Kidney Disease, Cystic, Medullary, Type 2 Medullary Cystic Kidney Disease Type Ii Familial Juvenile Gout
Joubert Syndrome 3	JBTS3 Joubert Syndrome With Ocular Defect Joubert Syndrome With Ocular Anomalies Js-O Joubert Syndrome With Retinopathy Joubert Syndrome-3 Joubert Syndrome, Type 3
Oligohydramnios	Oligohydramnios - Delivered Antepartum Oligohydramnios Delivered Oligohydramnios Oligohydramnios, Antepartum Condition Or Complication Deficient Liquor Oligohydramnios, Unspecified Trimester Reduced Liquor Volume
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Asphyxiating Thoracic Dystrophy	Jeune Thoracic Dystrophy Jeune Syndrome Asphyxiating Thoracic Dysplasia Short-Rib Thoracic Dysplasia With Or Without Polydactyly Thoracic Pelvic Phalangeal Dystrophy Asphyxiating Thoracic Chondrodystrophy Atd Chondroectodermal Dysplasia-Like Syndrome Infantile Thoracic Dystrophy Jeune Thoracic Dysplasia Thoracic Asphyxiant Dystrophy Thoracic-Pelvic-Phalangeal Dystrophy Short-Rib Thoracic Dysplasia Without Polydactyly Asphyxiating Thoracic Dystrophy Of The Newborn Asphyxiating Thorax Dystrophy
Autosomal Dominant Polycystic Kidney Disease	Polycystic Kidney Disease, Adult Type Adpkd Polycystic Kidney Diseases Polycystic Kidney, Autosomal Dominant Congenital Biliary Ectasias Polycystic Kidney And Hepatic Disease 1 Polycystic Kidney Disease, Autosomal Dominant Kidney, Polycystic, Disease, Autosomal Dominant Adult Polycystic Kidney Disease Polycystic Kidney, Adult Type Apckd - [Autosomal Polycystic Kidney Disease]
Cakut	Renal Or Urinary Tract Malformation Congenital Anomalies Of Kidney And Urinary Tract Congenital Anomaly Of Kidney And Urinary Tract Congenital Anomalies Of The Kidney And Urinary Tract Kidney And Urinary Tract, Anomalies, Congenital Renal Hypodysplasia, Nonsyndromic, 1
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Primary Ciliary Dyskinesia	Immotile Cilia Syndrome Kartagener Syndrome Dextrocardia Bronchiectasis And Sinusitis Pcd Ciliary Motility Disorders Ciliary Motility Disorder Immotile Ciliary Syndrome Ciliary Dyskinesia Primary Ics Polynesian Bronchiectasis Dextrocardia-Bronchiectasis-Sinusitis Syndrome Immotile Cilia Syndrome, Kartagener Type Primary Ciliary Dyskinesia And Situs Inversus Primary Ciliary Dyskinesia, Kartagener Type Siewert Syndrome Dyskinesia, Ciliary, Primary
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal

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 (1)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-RS09484	NPHP3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	NPHP3	VGNC	VGNC:32202
Canis familiaris	NPHP3	VGNC	VGNC:43919
Mus musculus	NPHP3	MGD	MGI:1921275
Rattus norvegicus	NPHP3	RGD	RGD:1563856
Others	NPHP3	NCBI