ENSMUSG00000027378


Mus musculus

Features
Gene ID: ENSMUSG00000027378
  
Biological name :Nphp1
  
Synonyms : nephronophthisis 1 (juvenile) homolog (human) / Nphp1
  
Possible biological names infered from orthology : nephrocystin 1 / O15259
  
Species: Mus musculus
  
Chr. number: 2
Strand: -1
Band: F1
Gene start: 127740732
Gene end: 127788897
  
Corresponding Affymetrix probe sets: 10487453 (MoGene1.0st)   1416919_a_at (Mouse Genome 430 2.0 Array)   1448523_at (Mouse Genome 430 2.0 Array)   1453686_x_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000028857
Ensembl peptide - ENSMUSP00000105986
NCBI entrez gene - 53885     See in Manteia.
MGI - MGI:1858233
RefSeq - NM_016902
RefSeq - XM_011239697
RefSeq - NM_001291012
RefSeq - NM_001291013
RefSeq - NM_001355429
RefSeq - XM_006499904
RefSeq - XM_011239695
RefSeq - XM_011239696
RefSeq Peptide - NP_058598
RefSeq Peptide - NP_001277941
RefSeq Peptide - NP_001277942
RefSeq Peptide - NP_001342358
swissprot - Q3TWM5
swissprot - A2APS1
Ensembl - ENSMUSG00000027378
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 nphp1ENSDARG00000009046Danio rerio
 NPHP1ENSGALG00000008195Gallus gallus
 NPHP1ENSG00000144061Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR001452  SH3 domain
 IPR030642  Nephrocystin-1, SH3 domain
 IPR036028  SH3-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:1903348 positive regulation of bicellular tight junction assembly IEA
 cellular_componentGO:0005911 cell-cell junction IEA
 cellular_componentGO:0031514 motile cilium IEA
 molecular_functionGO:0005515 protein binding IEA


Pathways (from Reactome)
Pathway description
Anchoring of the basal body to the plasma membrane


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001102 small superior vagus ganglion "reduced size of the upper ganglion of the vagus nerve located at the jugular foramen" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:18984]
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Allelic Composition: Nphp1tm1.1(KOMP)Vlcg/Nphp1tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Nphp1tm1.1(KOMP)Vlcg/Ucd

 MP:0001146 abnormal testis morphology "anomalous structure of the male reproductive glands" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Nek7tm1b(EUCOMM)Hmgu/Nek7tm1b(EUCOMM)Hmgu
Genetic Background: C57BL/6N-Nek7tm1b(EUCOMM)Hmgu/J

 MP:0001147 small testis "reduced size of the male reproductive glands" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:58959]
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Allelic Composition: Nek7tm1b(EUCOMM)Hmgu/Nek7tm1b(EUCOMM)Hmgu
Genetic Background: C57BL/6N-Nek7tm1b(EUCOMM)Hmgu/J

 MP:0001326 retinal degeneration "pathological change in the thin layer of neural tissue lining the back of the eyeball, which contains visual receptors and can result in the impairment or cessation of retinal neural function" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, NMF:Stephanie Pretel, Neuroscience Mutagenesis Facility Curator]
Show

Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg
Genetic Background: involves: 129 * C57BL/6 * FVB/N

 MP:0001925 male infertility "inability of male to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]
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Allelic Composition: MitfMi-Mee/Mitf+
Genetic Background: involves: C57BL/6 * FVB

Allelic Composition: Nphp1tm1.1(KOMP)Vlcg/Nphp1tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Nphp1tm1.1(KOMP)Vlcg/Ucd

 MP:0002687 oligozoospermia "reduced concentration of spermatozoa " [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:57312]
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Allelic Composition: MitfMi-Mee/Mitf+
Genetic Background: involves: C57BL/6 * FVB

 MP:0004182 abnormal spermiation "failure of mature spermatozoa to release from supporting Sertoli cells into the lumen of seminiferous tubules" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
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Allelic Composition: MitfMi-Mee/Mitf+
Genetic Background: involves: C57BL/6 * FVB

 MP:0004852 decreased testis weight "reduced average weight of the male reproductive glands" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: MitfMi-Mee/Mitf+
Genetic Background: involves: C57BL/6 * FVB

 MP:0004901 decreased male germ cell number "reduced numbers of male germ cells whether they are undifferentiated or fully differentiated" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: MitfMi-Mee/Mitf+
Genetic Background: involves: C57BL/6 * FVB

 MP:0004906 enlarged uterus 
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Allelic Composition: Nphp1tm1.1(KOMP)Vlcg/Nphp1tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Nphp1tm1.1(KOMP)Vlcg/Ucd

 MP:0005578 teratozoospermia "presence of malformed spermatozoa in the semen; malformations include the physical bending of the sperm to produce kinks or bends" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, ava:Anna V. Anagnostopoulos , Mouse Genome Informatics Curator]
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Allelic Composition: MitfMi-Mee/Mitf+
Genetic Background: involves: C57BL/6 * FVB

 MP:0008515 thin retinal outer nuclear layer "reduced thickness of the retinal layer that contains the nuclei and cell bodies of rods and cones" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Meox2tm1(cre)Sor/Meox2+,Smad1tm2Rob/Smad1tm2Sor
Genetic Background: involves: 129S/SvEv * 129S4/SvJaeSor * C57BL/6

Allelic Composition: Nphp1tm1Jgg/Nphp1tm1Jgg
Genetic Background: involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6 * NMRI

Allelic Composition: Ahi1tm1Jgg/Ahi1+,Nphp1tm1Jgg/Nphp1tm1Jgg
Genetic Background: involves: 129 * C57BL/6 * FVB/N * NMRI

 MP:0008892 abnormal sperm flagellum "any strucutral anomaly of the whiplike posterior filiform portion of the spermatozoon that provides sperm motility" [MESH:A05.360.490.890.840]
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Allelic Composition: MitfMi-Mee/Mitf+
Genetic Background: involves: C57BL/6 * FVB

 MP:0009709 hydrometra "an accumulation in the uterine lumen of normal secretions that ordinarily drain from the body but are retained when the cervix or vagina is significantly or completely closed" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Nphp1tm1.1(KOMP)Vlcg/Nphp1tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Nphp1tm1.1(KOMP)Vlcg/Ucd

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000039577 Nphp4 / P59240 / Mus musculus nephronophthisis 4 (juvenile) homolog (human) (Nphp4), transcript variant 2, mRNA. / O75161* / nephrocystin 4*  / complex
 ENSMUSG00000003037 Rab8a / P55258 / RAB8A, member RAS oncogene family / P61006*  / reaction
 ENSMUSG00000004771 P62492 / Rab11a / RAB11A, member RAS oncogene family / P62491*  / complex
 ENSMUSG00000033282 Q8CG73 / Rpgrip1l / Rpgrip1-like / Q68CZ1*  / complex






 

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