Ush1g (USH1 protein network component sans) - Rat Genome Database

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Gene: Ush1g (USH1 protein network component sans) Mus musculus
Analyze
Symbol: Ush1g
Name: USH1 protein network component sans
RGD ID: 1549969
MGI Page MGI
Description: Enables identical protein binding activity. Acts upstream of or within inner ear morphogenesis; inner ear receptor cell stereocilium organization; and sensory perception of sound. Located in several cellular components, including cytoskeleton; photoreceptor connecting cilium; and photoreceptor inner segment. Is expressed in several structures, including brain; eye; hemolymphoid system gland; inner ear; and testis. Used to study Usher syndrome type 1G. Human ortholog(s) of this gene implicated in Usher syndrome type 1G. Orthologous to human USH1G (USH1 protein network component sans).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: j; jackson shaker protein; js; pre-mRNA splicing regulator USH1G; Sans; scaffold protein containing ankyrin repeats and SAM domain; scaffold protein, amkyrin repeats and SAM domain containing; scaffold protein, ankyrin repeats and SAM domain containing; Usher syndrome 1G; Usher syndrome 1G homolog; Usher syndrome type-1G protein homolog
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911115,206,018 - 115,214,239 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl11115,206,018 - 115,212,867 (-)EnsemblGRCm39 Ensembl
GRCm3811115,315,192 - 115,333,736 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11115,315,192 - 115,322,041 (-)EnsemblGRCm38mm10GRCm38
MGSCv3711115,176,506 - 115,183,232 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3611115,131,282 - 115,138,008 (-)NCBIMGSCv36mm8
Celera11127,080,957 - 127,087,688 (-)NCBICelera
Cytogenetic Map11E2NCBI
cM Map1180.84NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
abnormal cochlear hair bundle tip links morphology  (IAGP)
abnormal cochlear hair cell inter-stereocilial links morphology  (IAGP)
abnormal hair cell mechanoelectric transduction  (IAGP)
abnormal hair cell physiology  (IAGP)
abnormal hearing electrophysiology  (IAGP)
abnormal inner hair cell stereociliary bundle morphology  (IAGP)
abnormal orientation of cochlear hair cell stereociliary bundles  (IAGP)
abnormal outer hair cell kinocilium location or orientation  (IAGP)
abnormal outer hair cell stereociliary bundle morphology  (IAGP)
abnormal pinna reflex  (IAGP)
abnormal reflex  (IAGP)
abnormal utricular macula morphology  (IAGP)
abnormal vestibular hair cell stereociliary bundle morphology  (IAGP)
abnormal vestibular system physiology  (IAGP)
absent cochlear hair cells  (IEA)
absent cochlear microphonics  (IAGP)
absent distortion product otoacoustic emissions  (IAGP)
absent linear vestibular evoked potential  (IAGP)
bidirectional circling  (IEA)
circling  (IAGP)
cochlear outer hair cell degeneration  (IAGP)
deafness  (IAGP)
decreased inner hair cell stereocilia number  (IAGP)
decreased outer hair cell stereocilia number  (IAGP)
head shaking  (IAGP)
head tossing  (IAGP)
hyperactivity  (IAGP)
impaired swimming  (IAGP)
increased or absent threshold for auditory brainstem response  (IAGP)
reduced linear vestibular evoked potential  (IAGP)
short cochlear outer hair cells  (IAGP)
short inner hair cell stereocilia  (IAGP)
short outer hair cell stereocilia  (IAGP)
vestibular hair cell degeneration  (IAGP)
vestibular saccular macula degeneration  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Non-syndromic vestibular disorder with otoconial agenesis in tilted/mergulhador mice caused by mutations in otopetrin 1. Hurle B, etal., Hum Mol Genet 2003 Apr 1;12(7):777-89.
2. Sensing sound: molecules that orchestrate mechanotransduction by hair cells. Kazmierczak P and Muller U, Trends Neurosci. 2012 Apr;35(4):220-9. doi: 10.1016/j.tins.2011.10.007. Epub 2011 Dec 15.
3. MGDs mouse GO annotations MGD data from the GO Consortium
4. MGD IEA MGD IEA
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. Mouse MP Annotation Import Pipeline RGD automated import pipeline
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. Weil D, etal., Hum Mol Genet. 2003 Mar 1;12(5):463-71.
10. Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait. Wright AF, etal., Nat Rev Genet. 2010 Apr;11(4):273-84. doi: 10.1038/nrg2717.
Additional References at PubMed
PMID:1442008   PMID:1763621   PMID:1927362   PMID:12477932   PMID:12575948   PMID:12588793   PMID:15461667   PMID:15590703   PMID:16219682   PMID:16235133   PMID:16545802   PMID:17906286  
PMID:18339676   PMID:20058854   PMID:21156003   PMID:21165971   PMID:21267068   PMID:21436032   PMID:21709241   PMID:21767579   PMID:22381527   PMID:23704327   PMID:24239741   PMID:24334608  
PMID:24608321   PMID:24952082   PMID:26620972   PMID:26936824   PMID:28031293   PMID:28835534   PMID:28966015   PMID:29386551   PMID:31637240   PMID:31776257   PMID:37328946  


Genomics

Comparative Map Data
Ush1g
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911115,206,018 - 115,214,239 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl11115,206,018 - 115,212,867 (-)EnsemblGRCm39 Ensembl
GRCm3811115,315,192 - 115,333,736 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11115,315,192 - 115,322,041 (-)EnsemblGRCm38mm10GRCm38
MGSCv3711115,176,506 - 115,183,232 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3611115,131,282 - 115,138,008 (-)NCBIMGSCv36mm8
Celera11127,080,957 - 127,087,688 (-)NCBICelera
Cytogenetic Map11E2NCBI
cM Map1180.84NCBI
USH1G
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381774,916,083 - 74,923,255 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1774,916,083 - 74,923,256 (-)EnsemblGRCh38hg38GRCh38
GRCh371772,912,175 - 72,919,350 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361770,423,771 - 70,430,946 (-)NCBINCBI36Build 36hg18NCBI36
Build 341770,423,770 - 70,430,946NCBI
Celera1769,505,403 - 69,512,577 (-)NCBICelera
Cytogenetic Map17q24-q25NCBI
HuRef1768,322,527 - 68,329,702 (-)NCBIHuRef
CHM1_11772,976,994 - 72,984,168 (-)NCBICHM1_1
T2T-CHM13v2.01775,807,868 - 75,815,042 (-)NCBIT2T-CHM13v2.0
Ush1g
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr810101,055,923 - 101,062,753 (-)NCBIGRCr8
mRatBN7.210100,559,721 - 100,563,590 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl10100,557,629 - 100,563,590 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx10105,619,880 - 105,623,749 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.010105,082,939 - 105,086,808 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.010100,480,712 - 100,484,581 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.010103,866,566 - 103,873,416 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl10103,869,377 - 103,873,246 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.010104,422,722 - 104,428,735 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.410105,395,184 - 105,399,053 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.110105,406,916 - 105,414,392 (-)NCBI
Celera1099,135,313 - 99,139,182 (-)NCBICelera
Cytogenetic Map10q32.1NCBI
Ush1g
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555531,788,401 - 1,796,441 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555531,788,443 - 1,795,139 (-)NCBIChiLan1.0ChiLan1.0
USH1G
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21990,953,217 - 90,960,563 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11795,776,198 - 95,783,565 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01768,861,622 - 68,868,822 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11774,417,766 - 74,424,794 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1774,419,769 - 74,424,794 (-)Ensemblpanpan1.1panPan2
USH1G
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.195,527,935 - 5,532,940 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl95,528,492 - 5,533,900 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha96,208,663 - 6,224,130 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.096,200,930 - 6,216,437 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl96,201,086 - 6,207,562 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.196,238,053 - 6,253,545 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.096,348,497 - 6,364,000 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.096,408,847 - 6,416,993 (+)NCBIUU_Cfam_GSD_1.0
Ush1g
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244056026,149,216 - 6,153,844 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936594259,030 - 262,778 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936594258,115 - 262,739 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
USH1G
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl126,334,310 - 6,340,361 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1126,333,640 - 6,341,083 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2126,323,797 - 6,331,295 (+)NCBISscrofa10.2Sscrofa10.2susScr3
USH1G
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11646,757,704 - 46,764,113 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1646,758,042 - 46,761,682 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607717,544,260 - 17,550,554 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ush1g
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248014,755,688 - 4,761,180 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248014,747,260 - 4,761,223 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Ush1g
308 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:972
Count of miRNA genes:485
Interacting mature miRNAs:591
Transcripts:ENSMUST00000103037
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1302034Pkccl_mprotein kinase C content in lungs (mouse)Not determined1191604608121973369Mouse
1300944Alcp20_malcohol preference locus 20 (mouse)Not determined1195403965121973369Mouse
1301072Eae22_mexperimental allergic encephalomyelitis 22 (mouse)Not determined1182377698116377820Mouse
39128214Lwq20_mliver weight QTL 20 (mouse)1112268637118022724Mouse
1301012Vispl_mvisual placing (mouse)Not determined11101022590121973369Mouse
1301983Berr2_mberghei resistance locus 2 (mouse)Not determined1198352609121973369Mouse
4141939Pregq2_mpregnancy QTL 2 (mouse)Not determined1194063779118022724Mouse
1300766Skull16_mskull morphology 16 (mouse)Not determined1181574481115574636Mouse
10043976Obq33_mobesity QTL 33 (mouse)Not determined1198500469121973369Mouse
1301057Nidd4_mnon-insulin-dependent diabetes mellitus 4 (mouse)Not determined1196810136121973369Mouse
1301958Alcp18_malcohol preference locus 18 (mouse)Not determined1195403965121973369Mouse
14747003Mancz9_mmandible centroid size 9 (mouse)1185844911119844911Mouse
10412288Carg4_mCandida albicans resistance gene 4 (mouse)Not determined1181810267115810267Mouse
11251723Ewc5_methanol withdrawal and consumption 5 (mouse)1189869251121973369Mouse
15014785Mvlq1_mmacrovesicular liver lesion QTL 1 (mouse)1186608320120608320Mouse
4141465Dbm2_mdiabetes modifier 2 (mouse)Not determined94437183118022724Mouse
15039374Adip29_madiposity 29 (mouse)1186608320120608320Mouse
1300962Cd8mts4_mCD8 memory T cell subset 4 (mouse)Not determined1196137674121973369Mouse
1301095El6_mepilepsy 6 (mouse)Not determined1193229183121973369Mouse
11341721Rvfs2_mRift Valley fever susceptibility 2 (mouse)11100254186120887165Mouse
27226731Tibmd4_mtibia midshaft diameter 4, 10 week (mouse)1194190826118890826Mouse
15039376Bw42_mbody weight QTL 42 (mouse)1186608320120608320Mouse
1558753Ath19_matherosclerosis 19 (mouse)Not determined1191604608121973369Mouse
10044001Alcw8_malcohol withdrawal 8 (mouse)Not determined1199254187121973369Mouse
1300649Crhq1_mcompensatory renal hypertrophy QTL 1 (mouse)Not determined1181574481115574636Mouse
27226789Feml16_mfemur length 16, 10 week (mouse)1187490826121873369Mouse
11553867Stmm5_mskin tumor modifier of MSM 5 (mouse)11100058103121973369Mouse
10044007Hbnr14_mHeligmosomoides bakeri nematode resistance 14 (mouse)Not determined1187502600121502698Mouse

Markers in Region
Ush1g  
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11E2UniSTS
cM Map1177.0UniSTS
Ush1g  
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11E2UniSTS


Expression


Sequence


Ensembl Acc Id: ENSMUST00000103037   ⟹   ENSMUSP00000099326
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl11115,206,018 - 115,212,867 (-)Ensembl
GRCm38.p6 Ensembl11115,315,192 - 115,322,041 (-)Ensembl
RefSeq Acc Id: NM_176847   ⟹   NP_789817
RefSeq Status: REVIEWED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm3911115,206,018 - 115,212,744 (-)NCBI
GRCm3811115,315,192 - 115,321,918 (-)NCBI
MGSCv3711115,176,506 - 115,183,232 (-)RGD
Celera11127,080,957 - 127,087,688 (-)RGD
cM Map11 ENTREZGENE
Sequence:
RefSeq Acc Id: XM_017314300   ⟹   XP_017169789
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm3911115,206,018 - 115,214,239 (-)NCBI
GRCm3811115,315,192 - 115,325,107 (-)NCBI
Sequence:
RefSeq Acc Id: NP_789817   ⟸   NM_176847
- UniProtKB: Q80UG0 (UniProtKB/Swiss-Prot),   Q80T11 (UniProtKB/Swiss-Prot),   Q0VBT9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_017169789   ⟸   XM_017314300
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSMUSP00000099326   ⟸   ENSMUST00000103037
Protein Domains
SAM

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q80T11-F1-model_v2 AlphaFold Q80T11 1-461 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene MGI:2450757 AgrOrtholog
Ensembl Genes ENSMUSG00000045288 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENSMUST00000103037 ENTREZGENE
  ENSMUST00000103037.5 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.150.50 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.25.40.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
InterPro Ankyrin_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM/pointed_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  USH1G_SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report mmu:16470 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
MGD MGI:2450757 ENTREZGENE
NCBI Gene 16470 ENTREZGENE
PANTHER ANK_REP_REGION DOMAIN-CONTAINING PROTEIN-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  USHER SYNDROME TYPE-1G PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ank_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Ush1g PhenoGen
PROSITE ANK_REP_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANK_REPEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ANK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47769 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48403 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt Q0VBT9 ENTREZGENE, UniProtKB/TrEMBL
  Q80T11 ENTREZGENE
  Q80UG0 ENTREZGENE
  USH1G_MOUSE UniProtKB/Swiss-Prot
UniProt Secondary Q80UG0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-03-21 Ush1g  USH1 protein network component sans    Usher syndrome 1G  Symbol and/or name change 5135510 APPROVED
2012-07-05 Ush1g  Usher syndrome 1G  Ush1g  Usher syndrome 1G homolog (human)  Symbol and/or name change 5135510 APPROVED