Manteia - Molecule gene

ENSMUSG00000032558

Mus musculus

Features

Gene ID:	ENSMUSG00000032558

Biological name :	Nphp3

Synonyms :	Nephrocystin-3 / Nphp3 / Q7TNH6

Possible biological names infered from orthology :	NPHP3-ACAD11 / NPHP3-ACAD11 readthrough (NMD candidate) / Q7Z494

Species:	Mus musculus

Chr. number:	9
Strand:	1
Band:	F1
Gene start:	104002544
Gene end:	104043818

Corresponding Affymetrix probe sets:	10588326 (MoGene1.0st) 1431093_at (Mouse Genome 430 2.0 Array)

Cross references:	Ensembl peptide - ENSMUSP00000141540 Ensembl peptide - ENSMUSP00000150368 Ensembl peptide - ENSMUSP00000142049 Ensembl peptide - ENSMUSP00000141596 Ensembl peptide - ENSMUSP00000035167 NCBI entrez gene - 74025 See in Manteia. MGI - MGI:1921275 RefSeq - NM_028721 RefSeq Peptide - NP_082997 swissprot - H9KV07 swissprot - A0A1L1STK5 swissprot - Q7TNH6 swissprot - A0A0A6YXM1 swissprot - A0A0A6YWG5 Ensembl - ENSMUSG00000032558

See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed

Ortholog prediction (from Ensembl)

Ortholog name	ID	Species
nphp3	ENSDARG00000078261	Danio rerio
	ENSGALG00000034586	Gallus gallus
NPHP3	ENSG00000113971	Homo sapiens
NPHP3-ACAD11	ENSG00000274810	Homo sapiens

Paralog prediction (from Ensembl)

Paralog name	ID	Similarity(%)
Klc1 / kinesin light chain 1 isoform 1G / Q07866* / AL139300.1* / kinesin light chain 1*	ENSMUSG00000021288	13
Klc4 / Q9DBS5 / Mus musculus kinesin light chain 4 (Klc4), transcript variant 2, mRNA. / Q9NSK0* / kinesin light chain 4*	ENSMUSG00000003546	13
Klc2 / kinesin light chain 2 / Q9H0B6*	ENSMUSG00000024862	12
Klc3 / Q91W40 / Kinesin light chain 3 / Q6P597*	ENSMUSG00000040714	11
Gm28305	ENSMUSG00000101152	6

Protein motifs (from Interpro)

Interpro ID	Name
IPR011990	Tetratricopeptide-like helical domain superfamily
IPR013026	Tetratricopeptide repeat-containing domain
IPR019734	Tetratricopeptide repeat
IPR027417	P-loop containing nucleoside triphosphate hydrolase
IPR036388	Winged helix-like DNA-binding domain superfamily

Gene Ontology (GO)

Type	GO ID	Term	Ev.Code
biological_process	GO:0001822	kidney development	ISO
biological_process	GO:0001947	heart looping	ISO
biological_process	GO:0003283	atrial septum development	ISO
biological_process	GO:0006629	lipid metabolic process	IMP
biological_process	GO:0007163	establishment or maintenance of cell polarity	IMP
biological_process	GO:0007368	determination of left/right symmetry	IMP
biological_process	GO:0016055	Wnt signaling pathway	IEA
biological_process	GO:0030198	extracellular matrix organization	IMP
biological_process	GO:0030324	lung development	ISO
biological_process	GO:0030814	obsolete regulation of cAMP metabolic process	IMP
biological_process	GO:0035469	determination of pancreatic left/right asymmetry	ISO
biological_process	GO:0045494	photoreceptor cell maintenance	ISO
biological_process	GO:0048496	maintenance of animal organ identity	IMP
biological_process	GO:0060027	convergent extension involved in gastrulation	ISO
biological_process	GO:0060271	cilium assembly	IMP
biological_process	GO:0060993	kidney morphogenesis	IMP
biological_process	GO:0071908	determination of intestine left/right asymmetry	ISO
biological_process	GO:0071909	determination of stomach left/right asymmetry	ISO
biological_process	GO:0071910	determination of liver left/right asymmetry	ISO
biological_process	GO:0072189	ureter development	ISO
biological_process	GO:0090090	negative regulation of canonical Wnt signaling pathway	ISS
biological_process	GO:1905515	non-motile cilium assembly	IMP
biological_process	GO:2000095	regulation of Wnt signaling pathway, planar cell polarity pathway	ISS
cellular_component	GO:0005929	cilium	ISO
cellular_component	GO:0042995	cell projection	IEA
cellular_component	GO:0097543	ciliary inversin compartment	IDA
cellular_component	GO:0097546	ciliary base	IDA
molecular_function	GO:0003674	molecular_function	ND
molecular_function	GO:0005515	protein binding	IEA

Pathways (from Reactome)

Pathway description

Trafficking of myristoylated proteins to the cilium

Phenotype (from MGI, Zfin or HPO)

ID	Phenotype	Definition	Genetic BG
MP:0000120	malocclusion	"perturbations in the normal patterned arrangement of the teeth or alignment of the jaw, resulting in the incorrect position of biting or chewing surfaces of the upper and lower teeth" [J:61509]	Show Allelic Composition: Nphp3^pcy/Nphp3^pcy Genetic Background: either: D2.KK-Nphp3^pcy or (involves: DBA/2Fg * DBA/2J * KK)
MP:0000122	accelerated tooth eruption	"early onset of the growth of the teeth out of the gums" [J:65045]	Show Allelic Composition: Nphp3^pcy/Nphp3^pcy Genetic Background: either: D2.KK-Nphp3^pcy or (involves: DBA/2Fg * DBA/2J * KK)
MP:0000266	abnormal cardiac morphology	"anomalies in the hollow, muscular organ that maintains the circulation of the blood" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Notch1^tm1Agt/Notch1^tm1Agt,Notch2^tm1Frad/Notch2^tm1Frad,Ptf1a^tm1(cre)Hnak/Ptf1a⁺ Genetic Background: involves: 129 * BALB/cJ
MP:0000745	tremors	"repetitive, cyclical movements of the body or a body part; usually involuntary, but can also manifest in response to an attempt at movement" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Insr^tm1Khn/Insr^tm1Khn,Pdx1^tm1Ted/Pdx1⁺,Speer6-ps1^{Tg(Alb-cre)21Mgn}/Speer6-ps1⁺ Genetic Background: involves: 129S4/SvJae * C57BL/6 * DBA/2
MP:0000914	exencephaly	"neurocranial defects resulting in exposure or extrusion of the brain" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]	Show Allelic Composition: Nphp3^pol/Nphp3^pol Genetic Background: C57BL/6JSfdAnu-Nphp3^pol/Anu
MP:0001270	distended abdomen	"abdomen appears curved outward or swollen; can be due to skeletal axial defects, enlarged visceral organs or megacolon" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Insr^tm1Khn/Insr^tm1Khn,Pdx1^tm1Ted/Pdx1⁺,Speer6-ps1^{Tg(Alb-cre)21Mgn}/Speer6-ps1⁺ Genetic Background: involves: 129S4/SvJae * C57BL/6 * DBA/2
MP:0001577	anemia	"less than normal levels of red blood cells, hemoglobin or volume of packed red blood cells " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:53370]	Show Allelic Composition: Insr^tm1Khn/Insr^tm1Khn,Pdx1^tm1Ted/Pdx1⁺,Speer6-ps1^{Tg(Alb-cre)21Mgn}/Speer6-ps1⁺ Genetic Background: involves: 129S4/SvJae * C57BL/6 * DBA/2
MP:0001700	abnormal embryo turning	"atypical axial rotation of the germ layers of the embryo during the primitive streak/early somite stage (Mus:E8.5-E9.5) such that the curvature of the entire trunk region is reversed and the neural ectoderm moves to the convex region and the midgut region becomes located in the concave region" [The Atlas of Mouse Development:ISBN 0-12-402035-6, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Notch1^tm1Agt/Notch1^tm1Agt,Notch2^tm1Frad/Notch2^tm1Frad,Ptf1a^tm1(cre)Hnak/Ptf1a⁺ Genetic Background: involves: 129 * BALB/cJ
MP:0001706	abnormal left-right axis patterning	"anomaly in the formation or development of the body or a specific organ of the body in relation to the left and right sides of the body or organ" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Notch1^tm1Agt/Notch1^tm1Agt,Notch2^tm1Frad/Notch2^tm1Frad,Ptf1a^tm1(cre)Hnak/Ptf1a⁺ Genetic Background: involves: 129 * BALB/cJ
MP:0001859	kidney inflammation	"local accumulation of fluid, plasma proteins, and leukocytes in the kidney" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7]	Show Allelic Composition: Insr^tm1Khn/Insr^tm1Khn,Pdx1^tm1Ted/Pdx1⁺,Speer6-ps1^{Tg(Alb-cre)21Mgn}/Speer6-ps1⁺ Genetic Background: involves: 129S4/SvJae * C57BL/6 * DBA/2 Allelic Composition: Nphp3^pcy/Nphp3^pcy Genetic Background: either: D2.KK-Nphp3^pcy or (involves: DBA/2Fg * DBA/2J * KK) Allelic Composition: Nphp3^pol/Nphp3^pol Genetic Background: C57BL/6JSfdAnu-Nphp3^pol/Anu
MP:0002082	postnatal lethality	"premature death anytime after postnatal day 1 to weaning age (3 weeks)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Agtpbp1^babe/Agtpbp1^babe Genetic Background: C57BL/6JSfdAnu-Agtpbp1^babe/Anu
MP:0002083	premature death	"death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Insr^tm1Khn/Insr^tm1Khn,Pdx1^tm1Ted/Pdx1⁺,Speer6-ps1^{Tg(Alb-cre)21Mgn}/Speer6-ps1⁺ Genetic Background: involves: 129S4/SvJae * C57BL/6 * DBA/2 Allelic Composition: Nphp3^pcy/Nphp3^pcy Genetic Background: either: D2.KK-Nphp3^pcy or (involves: DBA/2Fg * DBA/2J * KK)
MP:0002703	abnormal renal tubules	"anomalous structure or development of the loops of Henle and collecting ducts in the kidney" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Nphp3^pcy/Nphp3^pcy Genetic Background: either: D2.KK-Nphp3^pcy or (involves: DBA/2Fg * DBA/2J * KK)
MP:0002705	dilated renal tubules	"enlarged lumens of the loops of Henle and/or collecting ducts of the kidney" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Notch1^tm1Agt/Notch1^tm1Agt,Notch2^tm1Frad/Notch2^tm1Frad,Ptf1a^tm1(cre)Hnak/Ptf1a⁺ Genetic Background: involves: 129 * BALB/cJ
MP:0002828	abnormal glomerular capsule	"anomalous structure or development of the expanded beginning of a nephron that contains the glomerulus" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]	Show Allelic Composition: Nphp3^pcy/Nphp3^pcy Genetic Background: either: D2.KK-Nphp3^pcy or (involves: DBA/2Fg * DBA/2J * KK)
MP:0003068	enlarged kidney	"larger than average size of the kidney" [J:86005, pvb:Pierre Vanden Borre, Mouse Genome Informatics Curator]	Show Allelic Composition: Insr^tm1Khn/Insr^tm1Khn,Pdx1^tm1Ted/Pdx1⁺,Speer6-ps1^{Tg(Alb-cre)21Mgn}/Speer6-ps1⁺ Genetic Background: involves: 129S4/SvJae * C57BL/6 * DBA/2 Allelic Composition: Nphp3^pcy/Nphp3^pcy Genetic Background: involves: DBA/2Fg * KK Allelic Composition: Nphp3^pcy/Nphp3^pcy Genetic Background: either: D2.KK-Nphp3^pcy or (involves: DBA/2Fg * DBA/2J * KK) Allelic Composition: Nphp3^pcy/Nphp3^pcy,Tg(MtTGFA)42Lmb/0 Genetic Background: involves: CD-1 * DBA/2Fg * KK Allelic Composition: Nphp3^pcy/Nphp3^pcy Genetic Background: D2.KK-Nphp3^pcy Allelic Composition: Nphp3^pol/Nphp3^pol Genetic Background: C57BL/6JSfdAnu-Nphp3^pol/Anu
MP:0003215	renal interstitial fibrosis	"formation of fibrous tissue within the interstices of the kidney as a result of repair or a reactive process" [RGD:Rat Genome Database submission]	Show Allelic Composition: Nphp3^pcy/Nphp3^pcy Genetic Background: either: D2.KK-Nphp3^pcy or (involves: DBA/2Fg * DBA/2J * KK)
MP:0003670	dilated glomerular capsule	"an expansion in volume of the expanded beginning of a nephron that contains the glomerulus" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, J:91499]	Show Allelic Composition: Nphp3^pcy/Nphp3^pcy Genetic Background: either: D2.KK-Nphp3^pcy or (involves: DBA/2Fg * DBA/2J * KK)
MP:0003675	kidney cysts	"abnormal membranous sacs in any portion of the pair of organs responsible for urine secretion" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Insr^tm1Khn/Insr^tm1Khn,Pdx1^tm1Ted/Pdx1⁺,Speer6-ps1^{Tg(Alb-cre)21Mgn}/Speer6-ps1⁺ Genetic Background: involves: 129S4/SvJae * C57BL/6 * DBA/2 Allelic Composition: Nphp3^pcy/Nphp3^pcy Genetic Background: involves: DBA/2Fg * KK Allelic Composition: Nphp3^pcy/Nphp3^pcy Genetic Background: either: D2.KK-Nphp3^pcy or (involves: DBA/2Fg * DBA/2J * KK) Allelic Composition: Nphp3^pcy/Nphp3^pcy Genetic Background: involves: KK Allelic Composition: Nphp3^pcy/Nphp3^tm1Cbe Genetic Background: involves: C57BL/6 * CD-1 * KK/Upj
MP:0003917	increased kidney weight	"greater heft of the organs responsible for urine secretion" [RGD:Rat Genome Database submission]	Show Allelic Composition: Insr^tm1Khn/Insr^tm1Khn,Pdx1^tm1Ted/Pdx1⁺,Speer6-ps1^{Tg(Alb-cre)21Mgn}/Speer6-ps1⁺ Genetic Background: involves: 129S4/SvJae * C57BL/6 * DBA/2 Allelic Composition: Nphp3^pcy/Nphp3^pcy Genetic Background: either: D2.KK-Nphp3^pcy or (involves: DBA/2Fg * DBA/2J * KK)
MP:0003985	renal fibrosis	"formation of fibrous tissue in the kidney as a result of repair or a reactive process" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Nphp3^pol/Nphp3^pol Genetic Background: C57BL/6JSfdAnu-Nphp3^pol/Anu
MP:0004777	abnormal phospholipid level	"anomalous concentration of the fat derivatives in which one fatty acid has been replaced by a phosphate group" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Nphp3^pcy/Nphp3^pcy Genetic Background: involves: DBA/2Fg * KK
MP:0004860	dilated kidney collecting duct	"stretched or widened aperture of the luminal space of the collecting ducts" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Nphp3^pcy/Nphp3^pcy Genetic Background: either: D2.KK-Nphp3^pcy or (involves: DBA/2Fg * DBA/2J * KK)
MP:0005178	increased total circulating cholesterol level	"greater than the normal concentration in the blood of these most abundant steroids in animal tissues, and precursors to steroid hormones and bile salts; also components of plasma membranes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Insr^tm1Khn/Insr^tm1Khn,Pdx1^tm1Ted/Pdx1⁺,Speer6-ps1^{Tg(Alb-cre)21Mgn}/Speer6-ps1⁺ Genetic Background: involves: 129S4/SvJae * C57BL/6 * DBA/2
MP:0005202	lethargy	"mild impairment of consciousness resulting in reduced alertness and awareness; ultimately due to generalized brain dysfunction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Insr^tm1Khn/Insr^tm1Khn,Pdx1^tm1Ted/Pdx1⁺,Speer6-ps1^{Tg(Alb-cre)21Mgn}/Speer6-ps1⁺ Genetic Background: involves: 129S4/SvJae * C57BL/6 * DBA/2
MP:0005278	abnormal cholesterol homeostasis	"anomaly in the state of equilibrium in the body of these most abundant steroids in animal tissues, and precursors to steroid hormones and bile salts; also components of plasma membranes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:71350]	Show Allelic Composition: Insr^tm1Khn/Insr^tm1Khn,Pdx1^tm1Ted/Pdx1⁺,Speer6-ps1^{Tg(Alb-cre)21Mgn}/Speer6-ps1⁺ Genetic Background: involves: 129S4/SvJae * C57BL/6 * DBA/2
MP:0005565	increased blood urea nitrogen level	"high circulating concentration of nitrogen, in the form of urea; commonly used to measure renal function" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Insr^tm1Khn/Insr^tm1Khn,Pdx1^tm1Ted/Pdx1⁺,Speer6-ps1^{Tg(Alb-cre)21Mgn}/Speer6-ps1⁺ Genetic Background: involves: 129S4/SvJae * C57BL/6 * DBA/2 Allelic Composition: Nphp3^pcy/Nphp3^pcy Genetic Background: either: D2.KK-Nphp3^pcy or (involves: DBA/2Fg * DBA/2J * KK) Allelic Composition: Nphp3^pol/Nphp3^pol Genetic Background: C57BL/6JSfdAnu-Nphp3^pol/Anu
MP:0006084	abnormal circulating phospholipid level	"anomalous concentration in the blood of the fat derivatives in which one fatty acid has been replaced by a phosphate group" [smb:Susan M Bello, Mouse Genome Informatics Curator, ncbi:NCBI request]	Show Allelic Composition: Nphp3^pcy/Nphp3^pcy Genetic Background: involves: DBA/2Fg * KK
MP:0008528	polycystic kidney	"the development of innumerable cysts in the kidneys filled with fluid replacing much of the mass of the kidneys leading to reduction in kidney function and frequently kidney failure" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]	Show Allelic Composition: Nphp3^pcy/Nphp3^pcy,Tg(MtTGFA)42Lmb/0 Genetic Background: involves: CD-1 * DBA/2Fg * KK Allelic Composition: Nphp3^pcy/Nphp3^pcy Genetic Background: D2.KK-Nphp3^pcy Allelic Composition: Nphp3^pol/Nphp3^pol Genetic Background: C57BL/6JSfdAnu-Nphp3^pol/Anu
MP:0009051	dilated distal convoluted tubules	"stretched or widened aperture of the luminal space of the convoluted portion of the duct system of the nephron between the ascending portion of the loop of Henle and the collecting duct system in the kidney cortex" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Nphp3^pcy/Nphp3^pcy Genetic Background: either: D2.KK-Nphp3^pcy or (involves: DBA/2Fg * DBA/2J * KK)
MP:0010478	intracranial aneurysm	"a protruding sac within the cranial space formed by the dilation of the wall of an artery or a vein resulting from a weakening of the vessel wall" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Nphp3^pcy/Nphp3^pcy Genetic Background: either: D2.KK-Nphp3^pcy or (involves: DBA/2Fg * DBA/2J * KK)
MP:0011066	abnormal renal tubule epithelial cell primary cilium morphology	"any structural anomaly of the single non-motile cilium of a renal tubule epithelial cell that projects into the luminal space of the tubules where it is thought to act as a flow sensor" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", PMID:17995581]	Show Allelic Composition: Nphp3^pcy/Nphp3^tm1Cbe Genetic Background: involves: C57BL/6 * CD-1 * KK/Upj
MP:0011091	complete prenatal lethality	"death of all organisms of a given genotype in a population between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]	Show Allelic Composition: Notch1^tm1Agt/Notch1^tm1Agt,Notch2^tm1Frad/Notch2^tm1Frad,Ptf1a^tm1(cre)Hnak/Ptf1a⁺ Genetic Background: involves: 129 * BALB/cJ

Interacting proteins (from Reactome)

Interactor ID	Name	Interaction type
ENSMUSG00000025035	Arl3 / Q9WUL7 / ADP-ribosylation factor-like protein 3 / P36405* / ADP ribosylation factor like GTPase 3*	/ complex / reaction
ENSMUSG00000046562	Q8C4B4 / Unc119b / unc-119 lipid binding chaperone B / A6NIH7*	/ complex / reaction

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		© Olivier Tassy / Olivier Pourquie 2007-2024 contact: otassy@igbmc.fr