ENSMUSG00000028992


Mus musculus

Features
Gene ID: ENSMUSG00000028992
  
Biological name :Nmnat1
  
Synonyms : Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 / Nmnat1 / Q9EPA7
  
Possible biological names infered from orthology : nicotinamide nucleotide adenylyltransferase 1 / Q9HAN9
  
Species: Mus musculus
  
Chr. number: 4
Strand: -1
Band: E2
Gene start: 149467572
Gene end: 149485202
  
Corresponding Affymetrix probe sets: 10518679 (MoGene1.0st)   1425773_s_at (Mouse Genome 430 2.0 Array)   1429819_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000113156
Ensembl peptide - ENSMUSP00000116049
Ensembl peptide - ENSMUSP00000030845
Ensembl peptide - ENSMUSP00000101318
NCBI entrez gene - 66454     See in Manteia.
MGI - MGI:1913704
RefSeq - NM_133435
RefSeq - XM_006539105
RefSeq Peptide - NP_597679
RefSeq Peptide - NP_001343286
swissprot - B1AS01
swissprot - Q3V449
swissprot - Q9EPA7
swissprot - B0QZL2
Ensembl - ENSMUSG00000028992
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 nmnat1ENSDARG00000105748Danio rerio
 NMNAT1ENSGALG00000043318Gallus gallus
 NMNAT1ENSG00000173614Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Nmnat3 / Q99JR6 / Mus musculus nicotinamide nucleotide adenylyltransferase 3 (Nmnat3), transcript variant 2, mRNA. / Q96T66* / nicotinamide nucleotide adenylyltransferase 3*ENSMUSG0000003245641
Nmnat2 / Q8BNJ3 / Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2 / Q9BZQ4* / nicotinamide nucleotide adenylyltransferase 2*ENSMUSG0000004275135


Protein motifs (from Interpro)
Interpro ID Name
 IPR004821  Cytidyltransferase-like domain
 IPR005248  Nicotinate/nicotinamide nucleotide adenylyltransferase
 IPR014729  Rossmann-like alpha/beta/alpha sandwich fold


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0009058 biosynthetic process IEA
 biological_processGO:0009435 NAD biosynthetic process IDA
 biological_processGO:0009611 response to wounding IDA
 biological_processGO:0019363 pyridine nucleotide biosynthetic process IEA
 biological_processGO:0034628 "de novo" NAD biosynthetic process from aspartate IBA
 biological_processGO:1990966 ATP generation from poly-ADP-D-ribose IEA
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005654 nucleoplasm IEA
 cellular_componentGO:0016604 nuclear body IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0000309 nicotinamide-nucleotide adenylyltransferase activity ISO
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0004515 nicotinate-nucleotide adenylyltransferase activity ISO
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016779 nucleotidyltransferase activity IEA
 molecular_functionGO:0042802 identical protein binding IEA


Pathways (from Reactome)
Pathway description
Nicotinate metabolism


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001325 abnormal retina morphology "structural or developmental anomaly of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Ddx60tm1b(EUCOMM)Wtsi/Ddx60tm1b(EUCOMM)Wtsi,Mavstm1Tsse/Mavstm1Tsse
Genetic Background: involves: 129 * C57BL/6N

 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]
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Allelic Composition: Ddx60tm1b(EUCOMM)Wtsi/Ddx60tm1b(EUCOMM)Wtsi,Mavstm1Tsse/Mavstm1Tsse
Genetic Background: involves: 129 * C57BL/6N

Allelic Composition: Nmnat1imh/Nmnat1imh
Genetic Background: B6J.C(C3H)-Nmnat1imh

 MP:0002590 increased mean corpuscular volume "greater than the average amount of space occupied by each red blood cell, calculated from the hematocrit and red cell count, in erythrocyte indices" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Myoz1tm1a(EUCOMM)Hmgu/Myoz1tm1a(EUCOMM)Hmgu
Genetic Background: Not Specified

 MP:0002792 abnormal retinal vascularization "malformation or disorganization of the blood vessels supplying the retina" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Ddx60tm1b(EUCOMM)Wtsi/Ddx60tm1b(EUCOMM)Wtsi,Mavstm1Tsse/Mavstm1Tsse
Genetic Background: involves: 129 * C57BL/6N

Allelic Composition: Nmnat1imh/Nmnat1imh
Genetic Background: B6J.C(C3H)-Nmnat1imh

 MP:0002896 abnormal bone mineralization "defect in the process by which minerals are deposited into bone" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Myoz1tm1a(EUCOMM)Hmgu/Myoz1tm1a(EUCOMM)Hmgu
Genetic Background: Not Specified

 MP:0003733 abnormal inner nuclear layer morphology "malformation/anomalous structure of the retinal layer which contains the cell bodies of bipolar, horizontal, and amacrine cells" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Nmnat1imh/Nmnat1imh
Genetic Background: B6J.C(C3H)-Nmnat1imh

 MP:0003795 abnormal bone structure 
Show

Allelic Composition: Myoz1tm1a(EUCOMM)Hmgu/Myoz1tm1a(EUCOMM)Hmgu
Genetic Background: Not Specified

 MP:0004021 abnormal rod electrophysiology "anomaly in the function of dark adapted vision mediated by the rods" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Ddx60tm1b(EUCOMM)Wtsi/Ddx60tm1b(EUCOMM)Wtsi,Mavstm1Tsse/Mavstm1Tsse
Genetic Background: involves: 129 * C57BL/6N

 MP:0004022 abnormal cone electrophysiology "anomaly in the function of light adapted vision mediated by the cones" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Ddx60tm1b(EUCOMM)Wtsi/Ddx60tm1b(EUCOMM)Wtsi,Mavstm1Tsse/Mavstm1Tsse
Genetic Background: involves: 129 * C57BL/6N

 MP:0005548 retinal pigment epithelium atrophy "wasting or decreased size of the epithelial layer of the retina composed of cells containing pigment granules " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Ddx60tm1b(EUCOMM)Wtsi/Ddx60tm1b(EUCOMM)Wtsi,Mavstm1Tsse/Mavstm1Tsse
Genetic Background: involves: 129 * C57BL/6N

Allelic Composition: Nmnat1imh/Nmnat1imh
Genetic Background: B6J.C(C3H)-Nmnat1imh

 MP:0006243 abnormal pupil dilation reaction to light "the pupil fails to constrict fully when exposed to bright light" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Nmnat1imh/Nmnat1imh
Genetic Background: B6J.C(C3H)-Nmnat1imh

 MP:0008450 retinal photoreceptor degeneration "a retrogressive impairment of function or destruction of a cell specialized to detect and transduce light, including rods and cones of the retina" [MESH:A08.663.650.650, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ddx60tm1b(EUCOMM)Wtsi/Ddx60tm1b(EUCOMM)Wtsi,Mavstm1Tsse/Mavstm1Tsse
Genetic Background: involves: 129 * C57BL/6N

Allelic Composition: Nmnat1imh/Nmnat1imh
Genetic Background: B6J.C(C3H)-Nmnat1imh

 MP:0008511 thin retinal inner nuclear layer "reduced thickness of the retinal layer which contains the cell bodies of bipolar, horizontal, and amacrine cells" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Nmnat1imh/Nmnat1imh
Genetic Background: B6J.C(C3H)-Nmnat1imh

 MP:0008512 disorganized retinal inner nuclear layer "derangement of the normal pattern of the retinal layer which contains the cell bodies of bipolar, horizontal, and amacrine cells" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Nmnat1imh/Nmnat1imh
Genetic Background: B6J.C(C3H)-Nmnat1imh

 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"]
Show

Allelic Composition: Nmnat1imh/Nmnat1imh
Genetic Background: B6J.C(C3H)-Nmnat1imh

 MP:0008518 retinal outer nuclear layer degeneration "a retrogressive impairment or destruction of the retinal layer that contains the nuclei and cell bodies of rods and cones" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Nmnat1imh/Nmnat1imh
Genetic Background: B6J.C(C3H)-Nmnat1imh

 MP:0008580 photoreceptor inner segment degeneration "retrogressive pathologic change in the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Nmnat1imh/Nmnat1imh
Genetic Background: B6J.C(C3H)-Nmnat1imh

 MP:0008584 photoreceptor outer segment degeneration "retrogressive pathologic change in the photoreceptor region that is rich in the visual pigment rhodopsin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Nmnat1imh/Nmnat1imh
Genetic Background: B6J.C(C3H)-Nmnat1imh

 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]
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Allelic Composition: Nlrp3tm1Bhk/Nlrp3tm1Bhk
Genetic Background: involves: 129S6/SvEvTac

 MP:0011965 decreased total retina thickness "decreased width of the retina through the center plane" [MGI:csmith]
Show

Allelic Composition: Ddx60tm1b(EUCOMM)Wtsi/Ddx60tm1b(EUCOMM)Wtsi,Mavstm1Tsse/Mavstm1Tsse
Genetic Background: involves: 129 * C57BL/6N

Allelic Composition: Nmnat1imh/Nmnat1imh
Genetic Background: B6J.C(C3H)-Nmnat1imh

 MP:0012143 decreased a wave amplitude "reduction in the size (height or maximum displacement) of the a wave as measured in the electroretinogram" [MGI:csmith]
Show

Allelic Composition: Ddx60tm1b(EUCOMM)Wtsi/Ddx60tm1b(EUCOMM)Wtsi,Mavstm1Tsse/Mavstm1Tsse
Genetic Background: involves: 129 * C57BL/6N

Allelic Composition: Nmnat1imh/Nmnat1imh
Genetic Background: B6J.C(C3H)-Nmnat1imh

 MP:0012144 decreased b wave amplitude "reduction in the size (height or maximum displacement) of the b wave as measured in the electroretinogram" [MGI:csmith]
Show

Allelic Composition: Ddx60tm1b(EUCOMM)Wtsi/Ddx60tm1b(EUCOMM)Wtsi,Mavstm1Tsse/Mavstm1Tsse
Genetic Background: involves: 129 * C57BL/6N

Allelic Composition: Nmnat1imh/Nmnat1imh
Genetic Background: B6J.C(C3H)-Nmnat1imh

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000028992 Nmnat1 / Q9EPA7 / Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 / Q9HAN9* / nicotinamide nucleotide adenylyltransferase 1*  / complex






 

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