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General Information



Gene_Symbol Gene_ID Gene_Name Chromosome Alias
DIAPH1 1729 diaphanous-related formin 1  5hDIA1, LFHL1 







  • 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
24105619   2014Cell line : HT 29, HCT 116

Source : American Type tissue Culture Collection through European Tissue Culture Collection (Porton Down, Wiltshire, UK) and the Deutsche Sammlung von Mikroorganismen und Zellkulturen (Braunschweig, Germany) andResection specimens of primary colorectal carcinomas (CRC) were received fresh from surgery and obtained from North German Tumor Bank of Colorectal Cancer.

Sample Type : -

No. of Sample : -

Stage : -

Immunohistochemistry,real time PCR,Transwell assayUp-regulation- DIAPH1 depletion on colon cancer metastasis is due to the fact that in vitro knock down of DIAPH1 impaired all steps of metastasis; adhesion, invasion and migration while down-regulation of cortactin only reduced adhesion and invasion.


Gene Details



NC_000005.9 (140894588..140998622, complement)

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Gene Type protein coding
Gene Family -
Description This gene is a homolog of the Drosophila diaphanous gene, and has been linked to autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive low-frequency hearing loss. Actin polymerization involves proteins known to interact with diaphanous protein in Drosophila and mouse. It has therefore been speculated that this gene may have a role in the regulation of actin polymerization in hair cells of the inner ear. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]  
Chromosome 5
Location 5q31
Start 140894588  
End 140998622  
Strand -  
Gene Sequence

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Length 104035  
OMIM ID 602121   
HGNC ID HGNC:2876   
Unigene ID Hs.529451   
Ensembl ID ENSG00000131504   
PharmGKB ID PA27333   

mRNA Information


mRNA ID NM_001314007.1
Exon join(1..258,30806..30832,31859..32014,34831..34932, 35441..35571,35764..35850,36681..36744,38173..38312, 39860..39968,40431..40541,40713..40831,41465..41581, 42185..42300,42762..42826,43910..44089,44848..45564, 47016..47130,47620..47628,84623..84721,89359..89453, 89783..89884,90115..90354,90474..90603,91359..91483, 92595..92759,92883..93018,94827..94913,100060..100112, 102048..104040)  
mRNA Sequence

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Length 5857  



CDS Information


   
Location142..3894
CDS Sequence

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CCDS ID CCDS43373.1



Protein Information


      
Protein IDNP_001300936.1
Protein Namediaphanous-related formin 1
Molecular Wt. (Da)139283
Protein Sequence

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Length 1250  
Uniprot IDQ99959
Ensembl Protein ID ENSP00000070846  



Post-translational Modification Information (Source : HPRD)


Residue Type site
SPhosphorylation22
SPhosphorylation22
KAcetylation1057
KAcetylation1048
KAcetylation1103
KAcetylation1094
TPhosphorylation1196
SPhosphorylation1201
TPhosphorylation1187
SPhosphorylation1192
SPhosphorylation959
TPhosphorylation961
SPhosphorylation950
TPhosphorylation952
SPhosphorylation1272
SPhosphorylation1263
SPhosphorylation861
SPhosphorylation866
SPhosphorylation852
SPhosphorylation857

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
5080PAX66167NP_001595.2in vitro;in vivo;yeast 2-hybrid12324464   
5311PKD21437NP_000288.1in vivo15123714   
5879RAC13627NP_061485.1in vitro;in vivo11590143   
55660PRPF40A10995NP_060362.3yeast 2-hybrid15231748   


Pathway Information


                        
Pathway Name Pathway ID
AGE-RAGE signaling pathway in diabetic complications hsa04933
Focal adhesion hsa04510
Regulation of actin cytoskeleton hsa04810
Shigellosis hsa05131


Structure Information


No matching records could be found.

Domain Information




ID Location Description
smart00498770-1207  FH2
cl19758770-1207  FH2 superfamily
pfam02181769-1145  FH2
pfam06367274-466  Drf_FH3
cl05717274-466  Drf_FH3 superfamily
pfam0637184-268  Drf_GBD
cl0572084-268  Drf_GBD superfamily
pfam05266442-568  DUF724
cl21643442-568  DUF724 superfamily
pfam07956462-563  DUF1690
cl06824462-563  DUF1690 superfamily
pfam06346592-687  Drf_FH1
pfam06346568-675  Drf_FH1
pfam06346567-673  Drf_FH1
COG1196348-567  Smc
pfam01576471-562  Myosin_tail_1
TIGR02168429-570  SMC_prok_B
TIGR04211464-566  SH3_and_anchor
pfam00769453-570  ERM
TIGR02169434-565  SMC_prok_A
COG1196471-567  Smc
TIGR02169457-563  SMC_prok_A
COG1196470-570  Smc
TIGR02168457-572  SMC_prok_B
TIGR02168473-572  SMC_prok_B
pfam12128471-564  DUF3584
PHA02562473-566  46
TIGR02168375-569  SMC_prok_B
TIGR02169434-569  SMC_prok_A
TIGR02169457-565  SMC_prok_A
smart00787451-565  Spc7
COG4372458-561  COG4372
TIGR04211510-570  SH3_and_anchor
COG1196348-568  Smc
pfam13166350-557  AAA_13
PRK13729463-607  PRK13729
PTZ00108329-570  PTZ00108
COG1196343-565  Smc
pfam07888460-554  CALCOCO1
COG1579459-565  COG1579
pfam01576453-565  Myosin_tail_1
pfam04111462-567  APG6
TIGR02169457-576  SMC_prok_A
PRK12704460-565  PRK12704
COG4372476-563  COG4372
pfam07926471-561  TPR_MLP1_2
TIGR02169460-565  SMC_prok_A
COG0443456-564  DnaK
COG3883466-575  CwlO1
TIGR03321483-563  alt_F1F0_F0_B
TIGR03319458-565  RNase_Y
TIGR04523460-567  Mplasa_alph_rch
pfam11932517-565  DUF3450


Ontology Information


   
HPRD ID1883
Molecular ClassCytoskeletal associated protein
Molecular FunctionSerine-type peptidase activity (GO:0008236)
Biological ProcessProtein metabolism (GO:0019538)  



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