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General Information



Gene_Symbol Gene_ID Gene_Name Chromosome Alias
USH1C 10083 Usher syndrome 1C (autosomal recessive, severe)  11PDZ73; AIE-75; DFNB18; PDZ-45; PDZ-73; PDZD7C; DFNB18A; NY-CO-37; NY-CO-38; ush1cpst; PDZ-73/NY-CO-38 







  • Evidence
  • Gene
  • mRNA
  • CDS
  • Protein
  • PTM
  • Enzyme
  • PPi
  • Pathway
  • Structural
  • Domain
  • Ontology
  • SNP
  • Drug
  • External Links



Evidence Information


Pubmed ID Year Sample Information Techniques Mechanism Fold Change Remark
15219944   2004Cell line : SW 480

Source : -

Sample Type : -

No. of Sample : -

Stage : -

AIE-75 transfection and cell cloning, RT-PCR assay for AIE-75 expression, Cell growth countUnknown-Expression of AIE-75 causes G2/M cell cycle arrest and subsequent mitotic slippage.

AIE-75 interacts with PP2AC and prevent cells to transit mitotic phase.

20089989   2010Cell line : -

Source : VU University Medical Center, Amsterdam, The Netherlands.

Sample Type : CRC tumor and normal tissue

No. of Sample : -

Stage : TNM Stage II

Biochemical isolation to nano-LC-MS/MS analysis Unknown--


Gene Details



Chromosome: 11; NC_000011.9 (17515442..17565963, complement)

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Gene Type protein coding
Gene Family -
Description This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]  
Chromosome 11
Location 11p14.3
Start 17493895  
End 17544416  
Strand -  
Gene Sequence

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Length 50522  
OMIM ID 605242   
HGNC ID HGNC:12597   
Unigene ID Hs.502072    
Ensembl ID ENSG00000006611   
PharmGKB ID -   

mRNA Information


mRNA ID NM_001297764.1
Exon join(1..145,11095..11162,12875..13018,13125..13263, 17086..17194,17377..17401,17607..17664,17976..18070, 19882..19966,20939..20998,21491..21633,23006..23071, 23423..23547,26943..27016,42437..42478,42882..42935, 43267..43366,46146..46255,47604..47659,50041..50522)  
mRNA Sequence

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Length 2180  



CDS Information


   
Location join(110..145,11095..11162,12875..13018,13125..13263, 17086..17194,17377..17401,17607..17664,17976..18070, 19882..19966,20939..20998,21150..21206,21491..21633, 23006..23071,23423..23547,28127..28176,32363..32515, 33896..34012,34579..35061,38468..38587,39720..39770, 42437..42478,42882..42935,43267..43366,46146..46255, 47604..47659,48740..48848,50041..50085)
CDS Sequence

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CCDS ID CCDS7825.1



Protein Information


      
Protein IDNP_001284693.1
Protein NameUsher syndrome 1C (autosomal recessive, severe)
Molecular Wt. (Da)60198
Protein Sequence

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Length 533  
Uniprot IDP54760
Ensembl Protein ID ENSP00000350896  



Post-translational Modification Information (Source : HPRD)


Residue Type site
SPhosphorylation283
SPhosphorylation283
TPhosphorylation285
TPhosphorylation285
SPhosphorylation287
SPhosphorylation287
SPhosphorylation327
SPhosphorylation327
SPhosphorylation432

Enzyme Information


No matching records could be found.

PPi Information


(Click to view network : Source STRING)      View   

                              
Interactant Gene ID (Source: HPRD) Gene Symbol HPRD ID Ref Seq ID Technique References
4647MYO7A2043NP_000251.3in vitro;in vivo1   248   599   012   588   790   
64072CDH235699NP_071407.4in vitro;in vivo;yeast 2-hybrid124   071   801   258   879   000   000   000   


Pathway Information


No matching records could be found.

Structure Information


PDB ID1X5N
Resolution-
Methodsolution NMR
Chains A  
Molecule Harmonin  
Model View



Domain Information




ID Location Description
cd07353Feb-80  harmonin_N
cl11968Feb-80  harmonin_N_like superfamily
cd0099285-165  PDZ_signaling
cl0011785-165  PDZ superfamily
cd00992209-289  PDZ_signaling
cl00117209-289  PDZ superfamily
cd00992451-538  PDZ_signaling
cl00117451-538  PDZ superfamily
cd07347Feb-80  harmonin_N_like
smart0022884-166  PDZ
smart00228218-289  PDZ
pfam0059587-165  PDZ
pfam00595211-283  PDZ
cd0013697-165  PDZ
cd00136220-289  PDZ
smart00228451-537  PDZ
cd00136472-528  PDZ
cd00988105-166  PDZ_CTP_protease
cd1393316-79  harmonin_N_like_u1
cd00988221-303  PDZ_CTP_protease
cd07356Jul-78  HN_L-whirlin_R1_like
cd00987463-537  PDZ_serine_protease
cd00989114-164  PDZ_metalloprotease
cd00987235-299  PDZ_serine_protease
pfam1318097-166  PDZ_2
pfam00595460-525  PDZ
cd07354Mar-77  HN_L-delphilin-R1_like
cd00991111-166  PDZ_archaeal_metalloprotease
cd00988477-550  PDZ_CTP_protease
cd00989228-289  PDZ_metalloprotease
cd1393229-77  HN_RTEL1
cd0098798-165  PDZ_serine_protease
cd00989475-514  PDZ_metalloprotease
pfam13180221-271  PDZ_2
cd00991234-288  PDZ_archaeal_metalloprotease
cd00990472-507  PDZ_glycyl_aminopeptidase
pfam13180479-512  PDZ_2
TIGR0203796-289  degP_htrA_DO
TIGR0022596-164  prc
PRK10942111-282  PRK10942
COG079396-165  CtpA
COG0793221-299  CtpA
TIGR03279238-294  cyano_FeS_chp
TIGR02794302-383  tolA_full
pfam00769294-435  ERM
COG0793437-522  CtpA
PLN00049464-523  PLN00049
PRK09510301-353  tolA
PRK14474306-377  PRK14474
COG0265226-299  DegQ
pfam13868298-358  Trichoplein
pfam05672302-357  MAP7
COG3975235-277  COG3975
COG3064300-358  TolA


Ontology Information


   
HPRD ID587
Molecular ClassUnclassified
Molecular FunctionReceptor activity (GO:0004872)
Biological ProcessCell communication (GO:0007154); Signal transduction (GO:0007165)  



SNP Information


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Drug Information


No matching records could be found.

External Links


                                 
ArrayExpressGO
ICGCGO
Cancer3DGO
COSMICGO
NCGGO
TSGeneGO
Tumor Gene Family of DatabasesGO
CCDBGO
G2SBCGO
Osteosarcoma DatabaseGO
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