ENSMUSG00000045288


Mus musculus

Features
Gene ID: ENSMUSG00000045288
  
Biological name :Ush1g
  
Synonyms : Q80T11 / Ush1g / USH1 protein network component sans
  
Possible biological names infered from orthology : Q495M9
  
Species: Mus musculus
  
Chr. number: 11
Strand: -1
Band: E2
Gene start: 115315192
Gene end: 115322041
  
Corresponding Affymetrix probe sets: 10392904 (MoGene1.0st)   
  
Cross references: Ensembl peptide - ENSMUSP00000099326
NCBI entrez gene - 16470     See in Manteia.
MGI - MGI:2450757
RefSeq - XM_017314300
RefSeq - NM_176847
RefSeq Peptide - NP_789817
swissprot - Q0VBT9
swissprot - Q80T11
Ensembl - ENSMUSG00000045288
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ush1gaENSDARG00000004322Danio rerio
 ush1gbENSDARG00000076079Danio rerio
 USH1GENSGALG00000038769Gallus gallus
 USH1GENSG00000182040Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Anks4b / Q8K3X6 / Ankyrin repeat and SAM domain-containing protein 4B / Q8N8V4* / ankyrin repeat and sterile alpha motif domain containing 4B*ENSMUSG0000003090941


Protein motifs (from Interpro)
Interpro ID Name
 IPR001660  Sterile alpha motif domain
 IPR002110  Ankyrin repeat
 IPR013761  Sterile alpha motif/pointed domain superfamily
 IPR020683  Ankyrin repeat-containing domain
 IPR033350  Usher syndrome type-1G protein
 IPR036770  Ankyrin repeat-containing domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007605 sensory perception of sound ISO
 biological_processGO:0042472 inner ear morphogenesis IMP
 biological_processGO:0045494 photoreceptor cell maintenance IEA
 biological_processGO:0050953 sensory perception of light stimulus ISO
 biological_processGO:0050957 equilibrioception ISO
 biological_processGO:0060113 inner ear receptor cell differentiation IMP
 biological_processGO:0060122 inner ear receptor cell stereocilium organization IMP
 cellular_componentGO:0001917 photoreceptor inner segment IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0015629 actin cytoskeleton IDA
 cellular_componentGO:0016020 membrane ISS
 cellular_componentGO:0032391 photoreceptor connecting cilium IDA
 cellular_componentGO:0036064 ciliary basal body IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0030507 spectrin binding IEA
 molecular_functionGO:0042802 identical protein binding IEA
 molecular_functionGO:0042803 protein homodimerization activity IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001394 circling "repeated, compulsive movement in a circle; often associated with inner ear defects" [MGI:CLS, J:61295]
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Allelic Composition: Acetm1Unc/Ace+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Ush1gjs/Ush1gjs
Genetic Background: B6.A-Ush1gjs/J

Allelic Composition: Myo15tm1.1(cre)Ugds/Myo15+,Ush1gtm1.1Ugds/Ush1gtm1.1Ugds
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

Allelic Composition: Ush1gjs-3J/Ush1gjs-3J
Genetic Background: B6.Cg-Ush1gjs-3J/Kjn

 MP:0001395 bi-directional circling "circling behavior exhibited in both clockwise and counterclockwise directions" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Gata6tm2.1Sad/Gata6tm2.1Sad,Tg(Vil1-cre)997Gum/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1 * SJL

 MP:0001399 hyperactivity "general restlessness or excessive movement; more frequent movement from one place to another" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409, J:57125]
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Allelic Composition: Acetm1Unc/Ace+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Ush1gjs/Ush1gjs
Genetic Background: B6.A-Ush1gjs/J

 MP:0001485 abnormal pinna reflex "failure to respond to an auditory stimulus by a characteristic ear twitch " [J:64900]
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Allelic Composition: Mn1tm1Ecz/Mn1+
Genetic Background: FVB.129-Mn1tm1Ecz

 MP:0001522 impaired swimming "reduced ability or inability to swim" [J:45446, J:39081]
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Allelic Composition: Ush1gjs/Ush1gjs
Genetic Background: B6.A-Ush1gjs/J

 MP:0001961 abnormal reflex "anomalies in an involuntary response to a peripheral stimulus" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Mn1tm1Ecz/Mn1+
Genetic Background: FVB.129-Mn1tm1Ecz

 MP:0001967 deafness "inability to hear" [J:57651]
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Allelic Composition: Acetm1Unc/Ace+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Ush1gjs/Ush1gjs
Genetic Background: B6.A-Ush1gjs/J

Allelic Composition: Ush1gjs-2J/Ush1gjs-2J
Genetic Background: B6(Cg)-Ush1gjs-2J/J

Allelic Composition: Myo15tm1.1(cre)Ugds/Myo15+,Ush1gtm1.1Ugds/Ush1gtm1.1Ugds
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

Allelic Composition: Ush1gjs-3J/Ush1gjs-3J
Genetic Background: B6.Cg-Ush1gjs-3J/Kjn

 MP:0002730 head shaking "compulsive movement of the head in the horizontal plane" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:274]
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Allelic Composition: Ush1gjs/Ush1gjs
Genetic Background: B6.A-Ush1gjs/J

 MP:0003879 abnormal hair cell physiology "anomolous function of the sensory epithelial cells of the inner ear" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:100987]
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Allelic Composition: Myo15tm1.1(cre)Ugds/Myo15+,Ush1gtm1.1Ugds/Ush1gtm1.1Ugds
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

 MP:0004324 vestibular hair cell degeneration "degeneration or loss of the sensory epithelial cells of the maculae and cristae of the membranous labyrinth of the inner ear which are normally in synaptic contact with the vestibular nerve" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Acetm1Unc/Ace+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0004331 saccular macula degeneration "degeneration or loss of the oval neuroepithelial sensory receptor in the anterior wall of the saccule" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Acetm1Unc/Ace+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0004333 abnormal utricular macula morphology "any structural abnormalities in the neuroepithelial sensory receptor in the inferolateral wall of the utricle; hair cells of the neuroepithelium support the statoconial membrane and have terminal arborizations of vestibular nerve fibers around their bodies; normally sensitive to linear acceleration in the longitudinal axis of the body and to gravitational influences" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Acetm1Unc/Ace+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 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"]
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Allelic Composition: Ush1gjs/Ush1gjs
Genetic Background: B6.A-Ush1gjs/J

 MP:0004405 absent cochlear hair cells "absence of the sensory epithelial cells of the cochlea; these cells are normally in synaptic contact with the auditory nerve" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Ush1gjs-2J/Ush1gjs-2J
Genetic Background: B6(Cg)-Ush1gjs-2J/J

 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"]
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Allelic Composition: Pglyrp1tm1.1Lky/Pglyrp1tm1.1Lky
Genetic Background: B6.129S4-Pglyrp1tm1.1Lky

Allelic Composition: Myo15tm1.1(cre)Ugds/Myo15+,Ush1gtm1.1Ugds/Ush1gtm1.1Ugds
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

 MP:0004431 abnormal hair cell mechanoelectric transduction "anomalous conversion of mechanical energy into electric(al) energy by sensory cells, such as auditory and vestibular hair cells, required for auditory sensation" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Pglyrp1tm1.1Lky/Pglyrp1tm1.1Lky
Genetic Background: B6.129S4-Pglyrp1tm1.1Lky

Allelic Composition: Myo15tm1.1(cre)Ugds/Myo15+,Ush1gtm1.1Ugds/Ush1gtm1.1Ugds
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

 MP:0004466 short cochlear outer hair cells 
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Allelic Composition: Ush1gjs/Ush1gjs
Genetic Background: B6.A-Ush1gjs/J

 MP:0004515 abnormal vestibular hair cell stereociliary bundle morphology "any structural anomaly or disruption of the typical staircase-like arrangement of the mechanosensitive hair bundles which are composed of thick long microvilli (stereocilia) and are located at the apical end of vestibular hair cells of the utricle and saccule" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ush1gjs/Ush1gjs
Genetic Background: B6.A-Ush1gjs/J

Allelic Composition: Ush1gtm1.2Ugds/Ush1gtm1.2Ugds
Genetic Background: involves: 129S1/SvImJ * BALB/c * C57BL/6 * C57BL/6J

 MP:0004522 abnormal orientation of cochlear hair cell stereociliary bundles "misorientation or rotation of inner and/or outer hair cell stereociliary bundles, resulting in defective planar cell polarity of the inner ear sensory epithelium" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Ush1gjs/Ush1gjs
Genetic Background: B6.A-Ush1gjs/J

 MP:0004527 abnormal outer hair cell stereociliary bundle morphology "any structural anomaly or disruption of the typical V or W-like pattern of arrangement of mechanosensitive hair bundles located at the apical end of cochlear OHCs; each hair bundle is normally composed of ~100 nonmotile, actin-filled microvilli (stereocilia) arranged in rows of increasing height and coupled to one another by morphologically distinct links: tip links, horizontal top connectors, shaft connectors, and ankle links; most hair bundles also possess a single motile kinocilium immediately adjacent to the tallest (outermost) row of stereocilia; a fifth link type, the kinocilial link, connects the kinocilium to its neighboring stereocilia" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Ush1gjs/Ush1gjs
Genetic Background: B6.A-Ush1gjs/J

Allelic Composition: Ush1gtm1.2Ugds/Ush1gtm1.2Ugds
Genetic Background: involves: 129S1/SvImJ * BALB/c * C57BL/6 * C57BL/6J

Allelic Composition: Myo15tm1.1(cre)Ugds/Myo15+,Ush1gtm1.1Ugds/Ush1gtm1.1Ugds
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

 MP:0004529 decreased outer hair cell stereocilia number "decreased number (or less than the expected 100 or so) of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on cochlear outer hair cells" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Myo15tm1.1(cre)Ugds/Myo15+,Ush1gtm1.1Ugds/Ush1gtm1.1Ugds
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

 MP:0004531 short outer hair cell stereocilia "reduced length of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear outer hair cells" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Myo15tm1.1(cre)Ugds/Myo15+,Ush1gtm1.1Ugds/Ush1gtm1.1Ugds
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

 MP:0004532 abnormal inner hair cell stereociliary bundle morphology "any structural anomaly or disruption of the typically linear or U-shaped pattern of arrangement of mechanosensitive hair bundles located at the apical end of cochlear IHCs; each hair bundle is normally composed of ~100 nonmotile, actin-filled microvilli (stereocilia) arranged in rows of increasing height and coupled to one another by morphologically distinct links: tip links, horizontal top connectors, shaft connectors, and ankle links; most hair bundles also possess a single motile kinocilium immediately adjacent to the tallest row of stereocilia; a fifth link type, the kinocilial link, connects the kinocilium to its neighboring stereocilia" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ush1gjs/Ush1gjs
Genetic Background: B6.A-Ush1gjs/J

Allelic Composition: Ush1gtm1.2Ugds/Ush1gtm1.2Ugds
Genetic Background: involves: 129S1/SvImJ * BALB/c * C57BL/6 * C57BL/6J

Allelic Composition: Myo15tm1.1(cre)Ugds/Myo15+,Ush1gtm1.1Ugds/Ush1gtm1.1Ugds
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

 MP:0004534 decreased inner hair cell stereocilia number "decreased number (or less than the expected 100 or so) of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on cochlear inner hair cells" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Myo15tm1.1(cre)Ugds/Myo15+,Ush1gtm1.1Ugds/Ush1gtm1.1Ugds
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

 MP:0004536 short inner hair cell stereocilia "reduced length of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear inner hair cells" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Myo15tm1.1(cre)Ugds/Myo15+,Ush1gtm1.1Ugds/Ush1gtm1.1Ugds
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

 MP:0004577 abnormal cochlear hair cell inter-stereocilial links "any structural abnormality in the morphologically and biochemically distinct link types that extend between the stereocilia of cochlear hair bundles; link types can be distinguished by their relative sensitivities to treatment with calcium chelators and the protease subtilisin; in the mature mouse cochlea, tip links and horizontal top connectors are the only inter-stereocilial links associated with the hair bundle; ankle links and transient lateral links are both prominent features of developing auditory hair bundles" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Ush1gjs/Ush1gjs
Genetic Background: B6.A-Ush1gjs/J

 MP:0004578 abnormal cochlear hair bundle tip links "any structural abnormality in single, three-stranded interrow filaments that extend obliquely from the tip of one stereocilium to the lateral side of an adjacent taller stereocilium; in the mouse, tip links are already detectable prenatally and persist throughout life; tips links are thought to gate the mechanotransducer channel, are lost from the cell surface after exposure to either calcium chelator BAPTA or lanthanum, and resist degradation by the protease subtilisin" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Myo15tm1.1(cre)Ugds/Myo15+,Ush1gtm1.1Ugds/Ush1gtm1.1Ugds
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

 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"]
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Allelic Composition: Ush1gtm1.2Ugds/Ush1gtm1.2Ugds
Genetic Background: involves: 129S1/SvImJ * BALB/c * C57BL/6 * C57BL/6J

Allelic Composition: Myo15tm1.1(cre)Ugds/Myo15+,Ush1gtm1.1Ugds/Ush1gtm1.1Ugds
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

 MP:0004742 abnormal vestibular system physiology "any functional anomaly of the sensory system responsible for the sense of head position and movement of the body through space; such anomalies may include impaired balance, dizziness, poor regulation of postural muscle tone and inability to detect quick movements of the head " [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Myo15tm1.1(cre)Ugds/Myo15+,Ush1gtm1.1Ugds/Ush1gtm1.1Ugds
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

 MP:0004813 absent linear vestibular evoked potential "absence of the biphasic response elicited by linear acceleration transients (usually jerk pulses to an animal s head)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ush1gjs/Ush1gjs
Genetic Background: B6.A-Ush1gjs/J

 MP:0004814 reduced linear vestibular evoked potential "reduction of the biphasic response elicited by linear acceleration transients (usually jerk pulses to an animal s head)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Grid2ho-4J/Grid2ho-4J
Genetic Background: DBA/2J-Grid2ho-4J/J

 MP:0005307 head tossing "compulsive flailing of the head in multiple directions" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Acetm1Unc/Ace+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Ush1gjs-2J/Ush1gjs-2J
Genetic Background: B6(Cg)-Ush1gjs-2J/J

Allelic Composition: Ush1gjs-3J/Ush1gjs-3J
Genetic Background: B6.Cg-Ush1gjs-3J/Kjn

 MP:0006335 abnormal hearing electrophysiology "anomaly in auditory function as it relates to electrical phenomena" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Myo15tm1.1(cre)Ugds/Myo15+,Ush1gtm1.1Ugds/Ush1gtm1.1Ugds
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

 MP:0011062 abnormal outer hair cell kinocilium morphology "any structural anomaly of the nonmotile primary cilium that is found at the apical surface of outer hair cells" [GO:0060091]
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Allelic Composition: Ush1gtm1.2Ugds/Ush1gtm1.2Ugds
Genetic Background: involves: 129S1/SvImJ * BALB/c * C57BL/6 * C57BL/6J

 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]
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Allelic Composition: Acetm1Unc/Ace+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Ush1gjs/Ush1gjs
Genetic Background: B6.A-Ush1gjs/J

Allelic Composition: Ush1gtm1.2Ugds/Ush1gtm1.2Ugds
Genetic Background: involves: 129S1/SvImJ * BALB/c * C57BL/6 * C57BL/6J

Allelic Composition: Myo15tm1.1(cre)Ugds/Myo15+,Ush1gtm1.1Ugds/Ush1gtm1.1Ugds
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

Allelic Composition: Ush1gjs-3J/Ush1gjs-3J
Genetic Background: B6.Cg-Ush1gjs-3J/Kjn

Allelic Composition: Myo7ash1-8J/Myo7a+,Ush1gjs/Ush1g+
Genetic Background: B6.Cg-Myo7ash1-8J Ush1gjs

Allelic Composition: Pcdh15av-3J/Pcdh15+,Ush1gjs/Ush1g+
Genetic Background: B6.Cg-Pcdh15av-3J Ush1gjs

  


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






 

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