| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 1729 |
Name | DIAPH1 |
Synonym | DFNA1|DIA1|DRF1|LFHL1|hDIA1;diaphanous-related formin 1;DIAPH1;diaphanous-related formin 1 |
Definition | diaphanous homolog 1|diaphanous-related formin-1|protein diaphanous homolog 1 |
Position | 5q31 |
Gene Type | protein-coding |
Pathways and Diseases | |
Pathway | Focal adhesion;KEGG PATHWAY;hsa04510 |
Pathway | role of mal in rho-mediated activation of srf;PID BioCarta;100114 |
Pathway | erk and pi-3 kinase are necessary for collagen binding in corneal epithelia;PID BioCarta;100184 |
Pathway | Regulation of actin cytoskeleton;KEGG PATHWAY;hsa04810 |
Pathway | rho cell motility signaling pathway;PID BioCarta;100041 |
Pathway | RhoA signaling pathway;PID Curated;200007 |
Pathway | Shigellosis;KEGG PATHWAY;hsa05131 |
Pathway | Stabilization and expansion of the E-cadherin adherens junction;PID Curated;200155 |
Pathway | Cytoskeletal regulation by Rho GTPase;PANTHER;P00016 |
Disease | Deafness, autosomal dominant 1;OMIM |
External Links | |
Links to Entrez Gene | 1729 |
Links to all GeneRIF Items | 1729 |
Links to iHOP | 1729 |
Sequence Information | |
Nucleotide Sequence | >1729 : length: 5848 ATTCATGAGGCGCGCGCAGCCCGGCATGCTAATGAGGCGGGGCGCGGCGGCTGGCTAAAG AGCGACTGGGCGGCGGCGGGCGCGGAGCTGCCAGGCGGGAGCGGCGTAGGCGCGGGGTCG CCGGCCAGCGTGAACCGGGACATGGAGCCGCCCGGCGGGAGCCTGGGGCCCGGCCGCGGG ACCCGGGACAAGAAGAAGGGCCGGAGCCCAGATGAGCTGCCCTCGGCGGGCGGCGACGGC GGCAAATCTAAGAAATTTACTCTGAAGCGGCTCATGGCAGATGAGCTGGAGAGATTTACC AGCATGAGAATTAAGAAGGAGAAGGAAAAGCCCAATTCTGCTCATAGAAATTCTTCTGCA TCATATGGGGATGATCCCACAGCACAGTCATTGCAAGATGTTTCAGATGAACAAGTGCTG GTTCTCTTTGAACAGATGCTGCTGGATATGAACCTGAATGAGGAGAAACAGCAACCTTTG AGGGAGAAGGACATCATCATCAAGAGGGAGATGGTGTCCCAATACTTGTACACCTCCAAG GCTGGCATGAGCCAGAAGGAGAGCTCTAAGTCTGCCATGATGTATATTCAGGAGTTGAGG TCAGGCTTGCGGGATATGCCTCTGCTCAGCTGCCTGGAGTCCCTTCGTGTGTCTCTCAAC AACAACCCTGTCAGTTGGGTGCAAACATTTGGTGCTGAAGGCTTGGCCTCCTTATTGGAC ATTCTTAAACGACTTCATGATGAGAAAGAAGAGACTGCTGGGAGTTACGATAGCCGGAAC AAGCATGAGATCATTCGCTGCTTGAAAGCTTTTATGAACAACAAGTTTGGAATCAAGACC ATGTTGGAGACAGAAGAAGGAATCCTACTGCTGGTCAGAGCCATGGATCCTGCTGTTCCC AACATGATGATTGATGCAGCTAAGCTGCTTTCTGCTCTTTGTATTCTACCGCAGCCAGAG GACATGAATGAAAGGGTTTTGGAGGCAATGACAGAAAGAGCTGAGATGGATGAAGTGGAA CGTTTCCAGCCGCTGCTGGATGGATTAAAAAGTGGAACCACTATTGCACTGAAGGTTGGA TGCCTACAGCTGATCAATGCTCTCATCACACCAGCGGAGGAACTTGACTTCCGAGTTCAC ATCAGAAGTGAACTGATGCGTTTGGGGCTACATCAGGTGTTGCAGGACCTTCGAGAGATT GAAAATGAAGATATGAGAGTGCAACTAAATGTGTTTGATGAACAAGGGGAAGAGGATTCC TATGACCTGAAGGGACGGCTGGATGACATTCGCATGGAGATGGATGACTTTAATGAAGTC TTTCAGATTCTCTTAAACACAGTGAAGGATTCAAAGGCAGAGCCACACTTCCTTTCCATC CTGCAGCACTTACTCTTGGTCCGAAATGACTATGAGGCCAGACCTCAGTACTATAAGTTG ATTGAAGAATGTATTTCCCAGATAGTTCTGCACAAGAACGGGGCTGATCCTGACTTCAAG TGCCGGCACCTCCAGATTGAGATTGAGGGATTAATTGATCAAATGATTGATAAGACAAAG GTGGAGAAATCTGAAGCCAAAGCTGCAGAGCTGGAAAAGAAGTTGGACTCAGAGTTAACA GCCCGACATGAGCTACAGGTGGAAATGAAAAAGATGGAAAGTGACTTTGAGCAGAAGCTT CAAGATCTTCAGGGAGAAAAAGATGCACTGCATTCTGAAAAGCAGCAAATTGCCACAGAG AAACAGGACCTGGAAGCAGAGGTGTCCCAGCTCACAGGAGAGGTTGCCAAGCTGACAAAG GAACTGGAAGATGCCAAGAAAGAAATGGCTTCCCTCTCTGCGGCAGCTATTACTGTACCT CCTTCTGTTCCTAGTCGTGCTCCTGTTCCCCCTGCCCCTCCTTTACCTGGTGACTCTGGC ACTATTATTCCACCACCACCTGCTCCTGGGGATAGTACCACTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCACCTCCTTTGCCTGGGGGTGTTTGCATCTCCTCACCCCCTTCTTTA CCTGGAGGTACTGCTATCTCTCCACCCCCTCCTTTGTCTGGGGATGCTACCATCCCTCCA CCCCCTCCTTTGCCTGAGGGTGTTGGCATCCCTTCACCCTCTTCTTTGCCTGGAGGTACT GCCATCCCCCCACCTCCTCCTTTGCCTGGGAGTGCTAGAATCCCCCCACCACCACCTCCT TTGCCTGGGAGTGCTGGAATTCCCCCCCCACCTCCTCCCTTGCCTGGAGAAGCAGGAATG CCACCTCCTCCTCCCCCTCTTCCTGGTGGTCCTGGAATCCCTCCACCTCCTCCATTTCCC GGAGGCCCTGGCATTCCTCCACCTCCACCCGGAATGGGTATGCCTCCACCTCCCCCATTT GGATTTGGAGTTCCTGCAGCCCCAGTTCTGCCATTTGGATTAACCCCCAAAAAGCTTTAT AAGCCAGAGGTGCAGCTCCGGAGGCCAAACTGGTCCAAGCTTGTGGCTGAGGACCTCTCC CAGGACTGCTTCTGGACAAAGGTGAAGGAGGACCGCTTTGAGAACAATGAACTTTTCGCC AAACTTACCCTTACCTTCTCTGCCCAGACCAAGACTTCCAAAGCCAAGAAGGATCAAGAA GGTGGAGAAGAAAAGAAATCTGTGCAAAAGAAAAAAGTAAAAGAGTTAAAGGTGTTGGAT TCAAAGACAGCCCAGAATCTCTCAATCTTTTTGGGTTCCTTCCGCATGCCCTATCAAGAG ATTAAGAATGTCATCCTGGAGGTGAATGAGGCTGTTCTGACTGAGTCTATGATCCAGAAC CTCATTAAGCAAATGCCAGAGCCAGAGCAGTTAAAAATGCTTTCTGAACTGAAGGATGAA TATGATGACCTGGCTGAGTCAGAGCAGTTTGGCGTGGTGATGGGCACTGTGCCCCGACTG CGGCCTCGCCTCAATGCCATTCTCTTCAAGCTACAATTCAGCGAGCAAGTGGAGAATATC AAGCCAGAGATTGTGTCTGTCACTGCTGCATGTGAGGAGTTACGTAAGAGTGAGAGCTTT TCCAATCTCCTAGAGATTACCTTGCTTGTTGGAAATTACATGAATGCTGGCTCCAGAAAT GCTGGTGCTTTTGGCTTCAATATCAGCTTCCTCTGTAAGCTTCGAGACACCAAGTCCACA GATCAGAAGATGACGTTGTTACACTTCTTGGCTGAGTTGTGTGAGAATGACTATCCCGAT GTCCTCAAGTTTCCAGACGAGCTTGCCCATGTGGAGAAAGCCAGCCGAGTTTCTGCTGAA AACTTGCAAAAGAACCTAGATCAGATGAAGAAACAAATTTCTGATGTGGAACGTGATGTT CAGAATTTCCCAGCTGCCACAGATGAAAAAGACAAGTTTGTTGAAAAAATGACCAGCTTT GTGAAGGATGCACAGGAACAGTATAACAAGCTGCGGATGATGCATTCTAACATGGAGACC CTCTATAAGGAGCTGGGCGAGTACTTCCTCTTTGACCCCAAGAAGTTGTCTGTTGAAGAA TTTTTCATGGATCTTCACAATTTTCGGAATATGTTTTTGCAAGCAGTCAAGGAGAACCAG AAGCGGCGGGAGACAGAAGAAAAGATGAGGCGAGCAAAACTAGCCAAGGAGAAGGCAGAG AAGGAGCGGCTAGAGAAGCAGCAGAAGAGAGAGCAACTCATAGACATGAATGCAGAGGGC GATGAGACAGGTGTGATGGACAGTCTTCTAGAAGCCCTGCAGTCAGGGGCAGCATTCCGA CGGAAGAGAGGGCCCCGTCAAGACAACCTCTTGTGCCCCTGGGAAGTAGAGGAGGAGGAG GAGACCTTTAAATTGCCAACAGGAAGGCCGGGTGTGCAGTCACATCTCTGCTAGCTTCGG AGCTGACCAAGGATGATGCCATGGCTGCTGTTCCTGCCAAGGTGTCCAAGAACAGTGAGA CATTCCCCACAATCCTTGAGGAAGCCAAGGAGTTGGTTGGCCGTGCAAGCTAATGTGGGT CCTGTGACCGCGGCAGCTCCTCAGCGGAGCCGCAGACTGTCCTGCCCTGCAGCATGTGCC TAAAGGCTCAAGGGGATATTCCTCTGGGGTGGCCACTCCCACCACCCTGACCCTGTCTTT CTCTCTGGCCTGCTGCTCTCTCAACATCACATACAGCTTCAGCTGCCTGGAGGCCAGAAG GAAAGGGCAGTGCAGGGGAGGCCTGAGCCCGACTTAGCCAGCCCTGGCTGTTGTATTACC AAAGCAGGGTCCATGTTTGCTGCCTTAACCCTGTCTCCTCTCTGTTACTCAGAGGGCCTC ATCTCAGACAAGGCCCAGCCTGCTTTTTCTCAGCCCTGACTTTCTAATGGGCTTTCCCCC CTAGGTCAGTCTTGCTGGATTTGTGCTTTTCTTTTGTGGTTTCTCTGGCCCTGAGAATAG CATGGGGCTTGTAAACCTTTGGGCTAGATCCCTCCTTTCATTGCTGTTGTCTCTGCTCTT CCCTCTCCTGGCTGTGGTTATTTATTATTAGTGGTGTGGCACTGGGAGCTGCTCCTAAGG AAGCAGGGAGCAAATCCCACCTTTACCCCACCTTCCTGGGAAAGGCCTCCAAAGCAAAGG ATCTGGACCAGTTTCCCTGCTGTGCTGTGGCCCAGGCCAGAGCCTGTGGGCAGGCAGGCA GGGCATAGCGACAGTGTGGGACCTGCCCCCAGCTTCTGCCACGCTTTATGCCCTTGCCTC TCTGGACGCTCTGCACCAACCCCAGGCTACTGAGCCACCTTCCCTCCTCATGCCTTCCCT GAGCTTTGGTGCATCTCATCTGGACTATGGGTTGTACTGTGACCATCCCAACACCTCACC CTCTGTCTACAAGGAAATGGGAGGTGGAGCCTCCTGGCTGAGAAATTGTTTTGCAAATGG ATCTATTTTTGTATGAAAAAAAAAATTTTTTTAAAGAAAACTGTTCCTTCCCCCTTTCCC CTCCATAATGTAAGAAGCTTTGGTGGCAGGTTACAGAGTTCTGGGATTTCTTCTCACAGG CCCAATCCTGAATGTGCCCCTGGACCTTCTGGACCCTTGAGTCCAAGGCAGATCCTCTCT CCCAGGGAATCCGACACAGGAGGAACCCCTTCTCTGGTTGAGCTGGGCCAGGCCTAAGAG TAGCAGGAACTCTAAGACCACAGAGTTTTTTATAAATGTATAAATGTATCAAGCCAAATG TGCAGATGCTAACTGGACATTCTGGGGAACTGGGCACCAGGAGTGCCTTCATACACTGTA CCCCAGCTCTCTTCTAAAAGAGAAGTGGGTGGGCACACTGAACTGTTTGGTGGCCCCAAC CACAGGAAGCTGCAATTCTCTGGCTTAGGGTGATACTTTTGCCCTCCTTGTGCCCCTCTC AGCTTTCCATCCCCAGCTAGGAAGAAAGAATGGCACTCTTGGGCTTGGCCCAGAATTAGA GTTATTAGAGCAAGAGAGAGCTTAGGAAGCATGAGGGCAACTATAGTGAGGCCTTATTGC CAGGAGGGAGGGTTTTGGTTGCTGGCGCTTGTGTATAAAGGGGCAAGAGCAGCTCCTTTG GACTATTCCTGGGAGGACTCTGATGCAGGGCGTCTGTTGCTCCCCTGGGTCACCTCCTCC CTGCTCGCTGACATCTGGGGCTTTGACCCTTTCTTTTTTAATCTACTTTTGCTAAGATGC ATTTAATAAAAAAAAAGAGAGAGAGAGAGAGGTGTGAGGGACAAAATGCAAACCTATTTC CCTTGCCTCATAGGCTTCTGGGATGTCATCACCTCCAGTTTGTTGGTTTTGTTTCCAACT GTTAATAAAGCATTGAAACAGTACTGCC |
Protein Sequence | >1729 : length: 1272 MEPPGGSLGPGRGTRDKKKGRSPDELPSAGGDGGKSKKFTLKRLMADELERFTSMRIKKE KEKPNSAHRNSSASYGDDPTAQSLQDVSDEQVLVLFEQMLLDMNLNEEKQQPLREKDIII KREMVSQYLYTSKAGMSQKESSKSAMMYIQELRSGLRDMPLLSCLESLRVSLNNNPVSWV QTFGAEGLASLLDILKRLHDEKEETAGSYDSRNKHEIIRCLKAFMNNKFGIKTMLETEEG ILLLVRAMDPAVPNMMIDAAKLLSALCILPQPEDMNERVLEAMTERAEMDEVERFQPLLD GLKSGTTIALKVGCLQLINALITPAEELDFRVHIRSELMRLGLHQVLQDLREIENEDMRV QLNVFDEQGEEDSYDLKGRLDDIRMEMDDFNEVFQILLNTVKDSKAEPHFLSILQHLLLV RNDYEARPQYYKLIEECISQIVLHKNGADPDFKCRHLQIEIEGLIDQMIDKTKVEKSEAK AAELEKKLDSELTARHELQVEMKKMESDFEQKLQDLQGEKDALHSEKQQIATEKQDLEAE VSQLTGEVAKLTKELEDAKKEMASLSAAAITVPPSVPSRAPVPPAPPLPGDSGTIIPPPP APGDSTTPPPPPPPPPPPPPLPGGVCISSPPSLPGGTAISPPPPLSGDATIPPPPPLPEG VGIPSPSSLPGGTAIPPPPPLPGSARIPPPPPPLPGSAGIPPPPPPLPGEAGMPPPPPPL PGGPGIPPPPPFPGGPGIPPPPPGMGMPPPPPFGFGVPAAPVLPFGLTPKKLYKPEVQLR RPNWSKLVAEDLSQDCFWTKVKEDRFENNELFAKLTLTFSAQTKTSKAKKDQEGGEEKKS VQKKKVKELKVLDSKTAQNLSIFLGSFRMPYQEIKNVILEVNEAVLTESMIQNLIKQMPE PEQLKMLSELKDEYDDLAESEQFGVVMGTVPRLRPRLNAILFKLQFSEQVENIKPEIVSV TAACEELRKSESFSNLLEITLLVGNYMNAGSRNAGAFGFNISFLCKLRDTKSTDQKMTLL HFLAELCENDYPDVLKFPDELAHVEKASRVSAENLQKNLDQMKKQISDVERDVQNFPAAT DEKDKFVEKMTSFVKDAQEQYNKLRMMHSNMETLYKELGEYFLFDPKKLSVEEFFMDLHN FRNMFLQAVKENQKRRETEEKMRRAKLAKEKAEKERLEKQQKREQLIDMNAEGDETGVMD SLLEALQSGAAFRRKRGPRQANRKAGCAVTSLLASELTKDDAMAAVPAKVSKNSETFPTI LEEAKELVGRAS |