USH1C (USH1 protein network component harmonin) - Rat Genome Database

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Gene: USH1C (USH1 protein network component harmonin) Canis lupus familiaris
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Symbol: USH1C
Name: USH1 protein network component harmonin
RGD ID: 12153450
Description: ENCODES a protein that exhibits spectrin binding (inferred); INVOLVED IN actin filament bundle assembly (ortholog); inner ear auditory receptor cell differentiation (ortholog); inner ear morphogenesis (ortholog); PARTICIPATES IN auditory mechanotransduction pathway; retinitis pigmentosa pathway; ASSOCIATED WITH autosomal recessive nonsyndromic deafness (ortholog); Autosomal Recessive Nonsyndromic Deafness 18 (ortholog); autosomal recessive nonsyndromic deafness 18A (ortholog); FOUND IN photoreceptor inner segment (ortholog); photoreceptor outer segment (ortholog); plasma membrane (ortholog)
Type: protein-coding
RefSeq Status: MODEL
Previously known as: harmonin; Usher syndrome 1C (autosomal recessive, severe)
RGD Orthologs
Human
Mouse
Rat
Chinchilla
Bonobo
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: CanFam3.1 - Dog CanFam3.1 Assembly
Position:
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12140,055,786 - 40,100,685 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2140,055,730 - 40,101,430 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2139,555,651 - 39,600,543 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02141,161,015 - 41,205,900 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2141,160,539 - 41,205,845 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12140,173,714 - 40,218,550 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02140,380,893 - 40,425,786 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02140,719,734 - 40,764,634 (-)NCBIUU_Cfam_GSD_1.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Molecular Pathway Annotations     Click to see Annotation Detail View
References
Additional References at PubMed
PMID:22301074   PMID:30032202  


Genomics

Comparative Map Data
USH1C
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12140,055,786 - 40,100,685 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2140,055,730 - 40,101,430 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2139,555,651 - 39,600,543 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02141,161,015 - 41,205,900 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2141,160,539 - 41,205,845 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12140,173,714 - 40,218,550 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02140,380,893 - 40,425,786 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02140,719,734 - 40,764,634 (-)NCBIUU_Cfam_GSD_1.0
USH1C
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381117,493,900 - 17,544,416 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1117,493,895 - 17,544,416 (-)EnsemblGRCh38hg38GRCh38
GRCh371117,515,447 - 17,565,963 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361117,472,018 - 17,522,539 (-)NCBINCBI36Build 36hg18NCBI36
Celera1117,645,289 - 17,695,946 (-)NCBICelera
Cytogenetic Map11p15.1NCBI
HuRef1117,199,243 - 17,249,828 (-)NCBIHuRef
CHM1_11117,515,265 - 17,565,784 (-)NCBICHM1_1
T2T-CHM13v2.01117,591,495 - 17,642,149 (-)NCBIT2T-CHM13v2.0
Ush1c
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39745,844,774 - 45,887,984 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl745,844,774 - 45,887,927 (-)EnsemblGRCm39 Ensembl
GRCm38746,195,350 - 46,238,490 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl746,195,350 - 46,238,503 (-)EnsemblGRCm38mm10GRCm38
MGSCv37753,450,721 - 53,493,860 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36746,063,399 - 46,106,532 (-)NCBIMGSCv36mm8
Celera741,668,925 - 41,712,073 (-)NCBICelera
Cytogenetic Map7B3NCBI
cM Map729.66NCBI
Ush1c
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81105,831,719 - 105,880,082 (-)NCBIGRCr8
mRatBN7.2196,695,303 - 96,743,671 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl196,695,307 - 96,743,671 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1102,081,448 - 102,129,809 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01110,553,421 - 110,601,783 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01103,843,796 - 103,892,162 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01102,207,096 - 102,256,779 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1102,207,096 - 102,255,459 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01103,291,318 - 103,340,928 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4196,720,185 - 96,768,550 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1196,798,295 - 96,846,661 (-)NCBI
Celera190,943,948 - 90,992,307 (-)NCBICelera
Cytogenetic Map1q22NCBI
Ush1c
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541432,298,759 - 32,351,505 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541432,303,045 - 32,351,401 (-)NCBIChiLan1.0ChiLan1.0
USH1C
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2919,827,448 - 19,877,874 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11119,787,920 - 19,838,443 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01117,548,501 - 17,598,923 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11117,233,854 - 17,284,256 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1117,233,854 - 17,284,256 (-)Ensemblpanpan1.1panPan2
Ush1c
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494745,513,303 - 45,560,765 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365281,552,289 - 1,594,801 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365281,552,175 - 1,594,740 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
USH1C
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl241,593,802 - 41,647,247 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1241,593,793 - 41,646,777 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2244,613,841 - 44,706,204 (+)NCBISscrofa10.2Sscrofa10.2susScr3
USH1C
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1147,428,181 - 47,477,578 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl147,437,596 - 47,477,834 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038144,848,688 - 144,898,245 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ush1c
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247669,105,990 - 9,153,663 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247669,097,466 - 9,153,602 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in USH1C
726 total Variants

Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
nervous system
reproductive system
respiratory system
6 5 5 21 21 15 6 6 6 4 31 20 12 14 9

Sequence


Ensembl Acc Id: ENSCAFT00000014322   ⟹   ENSCAFP00000013245
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
CanFam3.1 Ensembl2140,055,731 - 40,101,430 (-)Ensembl
Ensembl Acc Id: ENSCAFT00000014325   ⟹   ENSCAFP00000013248
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
CanFam3.1 Ensembl2140,055,730 - 40,101,430 (-)Ensembl
Ensembl Acc Id: ENSCAFT00000077248   ⟹   ENSCAFP00000053334
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
CanFam3.1 Ensembl2140,055,731 - 40,101,430 (-)Ensembl
Ensembl Acc Id: ENSCAFT00845025797   ⟹   ENSCAFP00845020326
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.0 Ensembl2141,160,539 - 41,205,838 (-)Ensembl
Ensembl Acc Id: ENSCAFT00845025838   ⟹   ENSCAFP00845020359
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.0 Ensembl2141,160,539 - 41,205,838 (-)Ensembl
Ensembl Acc Id: ENSCAFT00845025859   ⟹   ENSCAFP00845020376
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.0 Ensembl2141,160,961 - 41,205,845 (-)Ensembl
RefSeq Acc Id: XM_014122770   ⟹   XP_013978245
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
CanFam3.12140,055,786 - 40,100,685 (-)NCBI
Dog10K_Boxer_Tasha2139,555,651 - 39,600,543 (-)NCBI
Sequence:
RefSeq Acc Id: XM_038430637   ⟹   XP_038286565
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.02141,161,015 - 41,205,900 (-)NCBI
RefSeq Acc Id: XM_038505963   ⟹   XP_038361891
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
UMICH_Zoey_3.12140,173,714 - 40,218,550 (-)NCBI
RefSeq Acc Id: XM_038569185   ⟹   XP_038425113
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
UU_Cfam_GSD_1.02140,719,734 - 40,764,634 (-)NCBI
RefSeq Acc Id: XM_038633377   ⟹   XP_038489305
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
UNSW_CanFamBas_1.02140,380,893 - 40,425,786 (-)NCBI
RefSeq Acc Id: XP_013978245   ⟸   XM_014122770
- UniProtKB: A0A8C0PCH4 (UniProtKB/TrEMBL),   A0A8I3NTK1 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSCAFP00000053334   ⟸   ENSCAFT00000077248
Ensembl Acc Id: ENSCAFP00000013248   ⟸   ENSCAFT00000014325
Ensembl Acc Id: ENSCAFP00000013245   ⟸   ENSCAFT00000014322
RefSeq Acc Id: XP_038361891   ⟸   XM_038505963
RefSeq Acc Id: XP_038489305   ⟸   XM_038633377
RefSeq Acc Id: XP_038286565   ⟸   XM_038430637
- UniProtKB: A0A8C0PCH4 (UniProtKB/TrEMBL),   A0A8I3NTK1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_038425113   ⟸   XM_038569185
- UniProtKB: A0A8C0PCH4 (UniProtKB/TrEMBL),   A0A8I3NTK1 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSCAFP00845020376   ⟸   ENSCAFT00845025859
Ensembl Acc Id: ENSCAFP00845020326   ⟸   ENSCAFT00845025797
Ensembl Acc Id: ENSCAFP00845020359   ⟸   ENSCAFT00845025838
Protein Domains
PDZ

Promoters
RGD ID:13687260
Promoter ID:EPDNEW_C5327
Type:initiation region
Name:USH1C_1
Description:USH1 protein network component harmonin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Dog AssemblyChrPosition (strand)Source
CanFam3.12140,100,655 - 40,100,715EPDNEW

Additional Information

Database Acc Id Source(s)
Ensembl Genes ENSCAFG00000008995 Ensembl, UniProtKB/TrEMBL
  ENSCAFG00030024648 UniProtKB/TrEMBL
  ENSCAFG00040022229 UniProtKB/TrEMBL
  ENSCAFG00845014411 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSCAFT00000077248.2 UniProtKB/TrEMBL
  ENSCAFT00030045395.1 UniProtKB/TrEMBL
  ENSCAFT00030045421.1 UniProtKB/TrEMBL
  ENSCAFT00040041288.1 UniProtKB/TrEMBL
  ENSCAFT00040041349.1 UniProtKB/TrEMBL
  ENSCAFT00845025797.1 UniProtKB/TrEMBL
  ENSCAFT00845025838.1 UniProtKB/TrEMBL
  ENSCAFT00845025859 ENTREZGENE
  ENSCAFT00845025859.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1160.20 UniProtKB/TrEMBL
  2.30.42.10 UniProtKB/TrEMBL
InterPro Harmonin UniProtKB/TrEMBL
  PDZ UniProtKB/TrEMBL
  PDZ_sf UniProtKB/TrEMBL
  USH2_Complex_Protein UniProtKB/TrEMBL
NCBI Gene USH1C ENTREZGENE
PANTHER PDZ DOMAIN CONTAINING WHIRLIN AND HARMONIN-RELATED UniProtKB/TrEMBL
  PTHR23116:SF36 UniProtKB/TrEMBL
Pfam PDZ UniProtKB/TrEMBL
  USH1C_N UniProtKB/TrEMBL
PRINTS PRICHEXTENSN UniProtKB/TrEMBL
PROSITE PDZ UniProtKB/TrEMBL
SMART PDZ UniProtKB/TrEMBL
Superfamily-SCOP SSF50156 UniProtKB/TrEMBL
UniProt A0A8C0PCH4 ENTREZGENE, UniProtKB/TrEMBL
  A0A8C0PIW6_CANLF UniProtKB/TrEMBL
  A0A8I3NTK1 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I3NTR0_CANLF UniProtKB/TrEMBL
  A0A8I3NW26_CANLF UniProtKB/TrEMBL
VGNC ID VGNC:48172 ENTREZGENE