ENSMUSG00000075470


Mus musculus

Features
Gene ID: ENSMUSG00000075470
  
Biological name :Deaf1
  
Synonyms : asparagine-linked glycosylation 10B (alpha-1,2-glucosyltransferase) / Deaf1 / Q3UGP8
  
Possible biological names infered from orthology : ALG10 / ALG10, alpha-1,2-glucosyltransferase / ALG10B / ALG10B, alpha-1,2-glucosyltransferase / Q5BKT4 / Q5I7T1
  
Species: Mus musculus
  
Chr. number: 15
Strand: 1
Band: E3
Gene start: 90224311
Gene end: 90233471
  
Corresponding Affymetrix probe sets: 10426292 (MoGene1.0st)   1437879_at (Mouse Genome 430 2.0 Array)   1454917_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000097882
Ensembl peptide - ENSMUSP00000154997
NCBI entrez gene - 380959     See in Manteia.
MGI - MGI:2146159
RefSeq - NM_001033441
RefSeq Peptide - NP_001028613
swissprot - Q3UGP8
Ensembl - ENSMUSG00000075470
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 alg10ENSDARG00000053917Danio rerio
 ALG10ENSGALG00000040272Gallus gallus
 ALG10ENSG00000139133Homo sapiens
 ALG10BENSG00000175548Homo sapiens


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR016900  Alpha-2-glucosyltransferase Alg10


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006488 dolichol-linked oligosaccharide biosynthetic process IEA
 biological_processGO:0007605 sensory perception of sound IMP
 biological_processGO:0060117 auditory receptor cell development IMP
 biological_processGO:0065009 regulation of molecular function IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0004583 dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity IEA
 molecular_functionGO:0015459 potassium channel regulator activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016757 transferase activity, transferring glycosyl groups IEA
 molecular_functionGO:0106073 dolichyl pyrophosphate Glc2Man9GlcNAc2 alpha-1,2-glucosyltransferase activity IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000274 enlarged heart "increase over normal size of the heart" [J:29971]
Show

Allelic Composition: Adipor1tm1b(EUCOMM)Hmgu/Adipor1tm1b(EUCOMM)Hmgu
Genetic Background: C57BL/6N-Adipor1tm1b(EUCOMM)Hmgu/H

 MP:0001415 increased exploration in new environment "greater amount of time spent investigating new location" [J:28825]
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Allelic Composition: A830005F24Riktm1.1(KOMP)Mbp/A830005F24Rik+
Genetic Background: C57BL/6N-A830005F24Riktm1.1(KOMP)Mbp/Ucd

 MP:0001539 decreased number of caudal vertebrae "reduced number of the bony segments of the tail" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Adipor1tm1b(EUCOMM)Hmgu/Adipor1tm1b(EUCOMM)Hmgu
Genetic Background: C57BL/6N-Adipor1tm1b(EUCOMM)Hmgu/H

 MP:0001967 deafness "inability to hear" [J:57651]
Show

Allelic Composition: Cntnap1tm1Pele/Cntnap1tm1Pele
Genetic Background: Not Specified

Allelic Composition: Alg10bnse5/Alg10bnse5
Genetic Background: 129S6.B6-Alg10bnse5

 MP:0004399 abnormal cochlear outer hair cell morphology "any structural abnormality in the sensory cells of the organ of Corti which are in synaptic contact with sensory as well as efferent fibers of the auditory nerve; there are three rows of columnar outer hair cells largely surrounded by cortilymph and supporting phalangeal cells; the apical end of each cell is anchored to the cuticular plate and about 100 stereocilia arranged in a V-shaped pattern extend from the cell s surface through the cuticular plate into the tectorial membrane" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Alg10bnse5/Alg10bnse5
Genetic Background: 129S6.B6-Alg10bnse5

 MP:0004402 decreased cochlear outer hair cell number "decreased number (or less than the expected 3 rows) of the columnar outer hair sensory cells of the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Alg10bnse5/Alg10bnse5
Genetic Background: 129S6.B6-Alg10bnse5

 MP:0004404 cochlear outer hair cell degeneration "degeneration or loss of the columnar outer hair sensory cells of the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Alg10bnse5/Alg10bnse5
Genetic Background: 129S6.B6-Alg10bnse5

 MP:0004413 absent cochlear microphonics "absence or loss of the bioelectric potentials produced by the hair cells of the organ of Corti in response to sound" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Alg10bnse5/Alg10bnse5
Genetic Background: 129S6.B6-Alg10bnse5

 MP:0004737 absent distortion product otoacoustic emissions "failure to create mechanical distortions in the inner ear when two primary tones are presented, indicating failure of outer hair cells to amplify basilar membrane motion" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Alg10bnse5/Alg10bnse5
Genetic Background: 129S6.B6-Alg10bnse5

 MP:0010025 decreased total body fat amount "less than the normal total amount of connective tissue composed of fat cells within the entire body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: A830005F24Riktm1.1(KOMP)Mbp/A830005F24Rik+
Genetic Background: C57BL/6N-A830005F24Riktm1.1(KOMP)Mbp/Ucd

 MP:0011100 complete preweaning lethality "death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Mbpshi-mld/Mbpshi-mld
Genetic Background: MDB/Dt

Allelic Composition: Alg10btm1(KOMP)Vlcg/Alg10btm1(KOMP)Vlcg
Genetic Background: C57BL/6N-Alg10btm1(KOMP)Vlcg/Bay

 MP:0011967 increased or absent threshold for auditory brainstem response "increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency or broadband click" [MGI:csmith]
Show

Allelic Composition: Alg10bnse5/Alg10bnse5
Genetic Background: 129S6.B6-Alg10bnse5

Allelic Composition: Alg10btm1.1(KOMP)Vlcg/Alg10b+
Genetic Background: C57BL/6N-Alg10btm1.1(KOMP)Vlcg/Bay

 MP:0013278 decreased fasted circulating glucose level "reduction in the amount of glucose in the blood at some defined time point after eating compared to controls" [MGI:Armida_Di_Fenza]
Show

Allelic Composition: Alg10btm1.1(KOMP)Vlcg/Alg10b+
Genetic Background: C57BL/6N-Alg10btm1.1(KOMP)Vlcg/Bay

 MP:0013279 increased fasted circulating glucose level "increase in the amount of glucose in the blood at some defined time point after eating compared to controls" [MGI:Armida_Di_Fenza]
Show

Allelic Composition: Alg10btm1.1(KOMP)Vlcg/Alg10b+
Genetic Background: C57BL/6N-Alg10btm1.1(KOMP)Vlcg/Bay

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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