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General Information



Gene_Symbol Gene_ID Gene_Name Chromosome Alias
GPHN 10243 Gephyrin  14GPH; GEPH; HKPX1; GPHRYN 







  • 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
22968445   2012Cell line : -

Source : Department of Pathology of Wrocaw Medical University.

Sample Type : CRC tumor and normal tissue

No. of Sample : 8

Stage : -

Laser capture microdissection,FFPE-FASP,SAX fractionation,LC-MSMS,Label-free quantitation.Up-regulation-A list of genes including this gene are differentially expressed analysed by LC-MS/MS technique.

To compare the proteomes of colonic mucosa (normal or N) and colon cancer (cancer or C), we analyzed archival FFPE clinical samples originating from eight patients.


Gene Details



Chromosome: 14; NC_000014.8 (66974125..67648525)

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Gene Type protein coding
Gene Family -
Description This gene encodes a neuronal assembly protein that anchors inhibitory neurotransmitter receptors to the postsynaptic cytoskeleton via high affinity binding to a receptor subunit domain and tubulin dimers. In nonneuronal tissues, the encoded protein is also required for molybdenum cofactor biosynthesis. Mutations in this gene may be associated with the neurological condition hyperplexia and also lead to molybdenum cofactor deficiency. Numerous alternatively spliced transcript variants encoding different isoforms have been described; however, the full-length nature of all transcript variants is not currently known. [provided by RefSeq, Jul 2008]  
Chromosome 14
Location 14q23.3
Start 66507407  
End 67181808  
Strand +  
Gene Sequence

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Length 674402  
OMIM ID 603930   
HGNC ID HGNC:15465   
Unigene ID Hs.208765    
Ensembl ID ENSG00000171723   
PharmGKB ID -   

mRNA Information


mRNA ID NM_020806.4
Exon join(1..1185,173701..173779,269058..269115,317068..317160, 372533..372627,408597..408663,415260..415532, 416788..416886,457785..457919,516227..516269, 551243..551380,581577..581669,593450..593505, 602734..602853,604455..604513,605612..605765, 614850..614971,635956..636043,652009..652082, 657756..657820,661527..661630,672172..672268, 673398..674402)  
mRNA Sequence

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Length 4318  



CDS Information


   
Locationjoin(1122..1185,173701..173779,269058..269115, 317068..317160,335272..335310,372533..372627, 408597..408663,415260..415532,416788..416886, 457785..457919,478276..478332,480530..480601, 516227..516269,551243..551380,581577..581669, 593450..593505,602734..602853,604455..604513, 605612..605765,614850..614971,635956..636043, 652009..652082,657756..657820,
CDS Sequence

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CCDS ID -



Protein Information


      
Protein IDNP_001019389.1
Protein NameGephyrin
Molecular Wt. (Da)79618
Protein Sequence

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Length 736  
Uniprot IDP01588
Ensembl Protein ID ENSP00000252723  



Post-translational Modification Information (Source : HPRD)


Residue Type site
SPhosphorylation188;-
SPhosphorylation188;-
SPhosphorylation194;-
SPhosphorylation194;-
TPhosphorylation198;-
TPhosphorylation198;-
SPhosphorylation200;-
TPhosphorylation199;-
SPhosphorylation200;-
TPhosphorylation199;-
TPhosphorylation299
SPhosphorylation303
TPhosphorylation266
SPhosphorylation270
SPhosphorylation310
SPhosphorylation316
TPhosphorylation319
SPhosphorylation277
SPhosphorylation283
TPhosphorylation286
KAcetylation498
KAcetylation465
TPhosphorylation139
TPhosphorylation139
SPhosphorylation338
SPhosphorylation305
SPhosphorylation147
SPhosphorylation147
SPhosphorylation283
SPhosphorylation250
SPhosphorylation301
SPhosphorylation268
TPhosphorylation640
TPhosphorylation607

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
2475MTOR3134NP_004949.1in vitro;in vivo;yeast 2-hybrid10325225   
2743GLRB11751NP_000815.1in vitro;in vivo7546736   
5216PFN11452NP_005013.1in vitro9473484   
5300PIN13031NP_006212.1in vitro;in vivo17347650   
7277TUBA4A1851NP_005991.1in vitro;in vivo1657993   
8655DYNLL13334NP_003737.1in vitro;yeast 2-hybrid1   476   070   312   097   490   
23229ARHGEF92337NP_056000.1in vitro;in vivo;yeast 2-hybrid1   060   739   111   727   820   
140735DYNLL26489NP_542408.1in vitro12097491   


Pathway Information


      
Pathway Name Pathway ID
GABAergic synapse hsa04727


Structure Information


PDB ID1JLJ
Resolution1.6
MethodX-RAY DIFFRACTION
Chains A,B,C  
Molecule gephyrin  
Model View



Domain Information




ID Location Description
cd00887327-733  MoeA
cl00451327-733  MoCF_BD superfamily
cd0088615-169  MogA_MoaB
cl0045115-169  MoCF_BD superfamily
pfam03453323-489  MoeA_N
cl04083323-489  MoeA_N superfamily
COG052115-169  MoaB
PRK0941715-169  mogA
cd0075816-162  MoCF_BD
TIGR0017715-160  molyb_syn
cd00758501-643  MoCF_BD
pfam00994502-645  MoCF_biosynth
TIGR00177499-641  molyb_syn
smart00852502-638  MoCF_biosynth
smart0085218-158  MoCF_biosynth
pfam0099418-164  MoCF_biosynth
TIGR0266715-150  moaB_proteo
pfam03454658-733  MoeA_C
cl08391658-733  MoeA_C superfamily
cd00885501-573  cinA
cd0088739-177  MoeA
cd0352216-137  MoeA_like
cd00886530-643  MogA_MoaB
COG0521492-652  MoaB
PRK03670509-574  PRK03670
COG0303321-730  MoeA
PLN02699323-713  PLN02699
PRK14498337-730  PRK14498
PRK14491337-718  PRK14491
PRK10680323-712  PRK10680
PRK14497335-732  PRK14497
PLN0269912-170  PLN02699
PRK14690324-713  PRK14690
PRK0360415-171  moaC
COG1058501-573  CinA
COG030349-177  MoeA
TIGR00200509-574  cinA_nterm
PRK00549503-586  PRK00549
PRK03673501-573  PRK03673
PRK01215499-573  PRK01215
PRK03604520-643  moaC


Ontology Information


   
HPRD ID1820
Molecular ClassUnclassified
Molecular FunctionTransmembrane receptor protein tyrosine kinase activity (GO:0004714)
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
RCDBGO