KEGG   Homo sapiens (human): 1729
Entry
1729              CDS       T01001                                 

Symbol
DIAPH1, DFNA1, DIA1, DRF1, LFHL1, SCBMS, hDIA1, mDia1
Name
(RefSeq) diaphanous related formin 1
  KO
K05740  diaphanous 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04510  Focal adhesion
hsa04810  Regulation of actin cytoskeleton
hsa04933  AGE-RAGE signaling pathway in diabetic complications
hsa05131  Shigellosis
Disease
H00604  Deafness, autosomal dominant
H01740  Macrothrombocytopenia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04510 Focal adhesion
    1729 (DIAPH1)
  09142 Cell motility
   04810 Regulation of actin cytoskeleton
    1729 (DIAPH1)
 09160 Human Diseases
  09171 Infectious disease: bacterial
   05131 Shigellosis
    1729 (DIAPH1)
  09167 Endocrine and metabolic disease
   04933 AGE-RAGE signaling pathway in diabetic complications
    1729 (DIAPH1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins [BR:hsa04812]
    1729 (DIAPH1)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Actin filaments / Microfilaments
   Actin-binding proteins
    Formins
     1729 (DIAPH1)
SSDB
Motif
Pfam: FH2 Drf_FH3 Drf_GBD Drf_FH1 Drf_DAD DUF3450 DUF948 Glucan_synthase
Other DBs
NCBI-GeneID: 1729
NCBI-ProteinID: NP_005210
OMIM: 602121
HGNC: 2876
Ensembl: ENSG00000131504
Vega: OTTHUMG00000149893
Pharos: O60610(Tbio)
UniProt: O60610 Q6URC4
Position
5q31.3
AA seq 1272 aa
MEPPGGSLGPGRGTRDKKKGRSPDELPSAGGDGGKSKKFTLKRLMADELERFTSMRIKKE
KEKPNSAHRNSSASYGDDPTAQSLQDVSDEQVLVLFEQMLLDMNLNEEKQQPLREKDIII
KREMVSQYLYTSKAGMSQKESSKSAMMYIQELRSGLRDMPLLSCLESLRVSLNNNPVSWV
QTFGAEGLASLLDILKRLHDEKEETAGSYDSRNKHEIIRCLKAFMNNKFGIKTMLETEEG
ILLLVRAMDPAVPNMMIDAAKLLSALCILPQPEDMNERVLEAMTERAEMDEVERFQPLLD
GLKSGTTIALKVGCLQLINALITPAEELDFRVHIRSELMRLGLHQVLQDLREIENEDMRV
QLNVFDEQGEEDSYDLKGRLDDIRMEMDDFNEVFQILLNTVKDSKAEPHFLSILQHLLLV
RNDYEARPQYYKLIEECISQIVLHKNGADPDFKCRHLQIEIEGLIDQMIDKTKVEKSEAK
AAELEKKLDSELTARHELQVEMKKMESDFEQKLQDLQGEKDALHSEKQQIATEKQDLEAE
VSQLTGEVAKLTKELEDAKKEMASLSAAAITVPPSVPSRAPVPPAPPLPGDSGTIIPPPP
APGDSTTPPPPPPPPPPPPPLPGGVCISSPPSLPGGTAISPPPPLSGDATIPPPPPLPEG
VGIPSPSSLPGGTAIPPPPPLPGSARIPPPPPPLPGSAGIPPPPPPLPGEAGMPPPPPPL
PGGPGIPPPPPFPGGPGIPPPPPGMGMPPPPPFGFGVPAAPVLPFGLTPKKLYKPEVQLR
RPNWSKLVAEDLSQDCFWTKVKEDRFENNELFAKLTLTFSAQTKTSKAKKDQEGGEEKKS
VQKKKVKELKVLDSKTAQNLSIFLGSFRMPYQEIKNVILEVNEAVLTESMIQNLIKQMPE
PEQLKMLSELKDEYDDLAESEQFGVVMGTVPRLRPRLNAILFKLQFSEQVENIKPEIVSV
TAACEELRKSESFSNLLEITLLVGNYMNAGSRNAGAFGFNISFLCKLRDTKSTDQKMTLL
HFLAELCENDYPDVLKFPDELAHVEKASRVSAENLQKNLDQMKKQISDVERDVQNFPAAT
DEKDKFVEKMTSFVKDAQEQYNKLRMMHSNMETLYKELGEYFLFDPKKLSVEEFFMDLHN
FRNMFLQAVKENQKRRETEEKMRRAKLAKEKAEKERLEKQQKREQLIDMNAEGDETGVMD
SLLEALQSGAAFRRKRGPRQANRKAGCAVTSLLASELTKDDAMAAVPAKVSKNSETFPTI
LEEAKELVGRAS
NT seq 3819 nt   +upstreamnt  +downstreamnt
atggagccgcccggcgggagcctggggcccggccgcgggacccgggacaagaagaagggc
cggagcccagatgagctgccctcggcgggcggcgacggcggcaaatctaagaaatttact
ctgaagcggctcatggcagatgagctggagagatttaccagcatgagaattaagaaggag
aaggaaaagcccaattctgctcatagaaattcttctgcatcatatggggatgatcccaca
gcacagtcattgcaagatgtttcagatgaacaagtgctggttctctttgaacagatgctg
ctggatatgaacctgaatgaggagaaacagcaacctttgagggagaaggacatcatcatc
aagagggagatggtgtcccaatacttgtacacctccaaggctggcatgagccagaaggag
agctctaagtctgccatgatgtatattcaggagttgaggtcaggcttgcgggatatgcct
ctgctcagctgcctggagtcccttcgtgtgtctctcaacaacaaccctgtcagttgggtg
caaacatttggtgctgaaggcttggcctccttattggacattcttaaacgacttcatgat
gagaaagaagagactgctgggagttacgatagccggaacaagcatgagatcattcgctgc
ttgaaagcttttatgaacaacaagtttggaatcaagaccatgttggagacagaagaagga
atcctactgctggtcagagccatggatcctgctgttcccaacatgatgattgatgcagct
aagctgctttctgctctttgtattctaccgcagccagaggacatgaatgaaagggttttg
gaggcaatgacagaaagagctgagatggatgaagtggaacgtttccagccgctgctggat
ggattaaaaagtggaaccactattgcactgaaggttggatgcctacagctgatcaatgct
ctcatcacaccagcggaggaacttgacttccgagttcacatcagaagtgaactgatgcgt
ttggggctacatcaggtgttgcaggaccttcgagagattgaaaatgaagatatgagagtg
caactaaatgtgtttgatgaacaaggggaagaggattcctatgacctgaagggacggctg
gatgacattcgcatggagatggatgactttaatgaagtctttcagattctcttaaacaca
gtgaaggattcaaaggcagagccacacttcctttccatcctgcagcacttactcttggtc
cgaaatgactatgaggccagacctcagtactataagttgattgaagaatgtatttcccag
atagttctgcacaagaacggggctgatcctgacttcaagtgccggcacctccagattgag
attgagggattaattgatcaaatgattgataagacaaaggtggagaaatctgaagccaaa
gctgcagagctggaaaagaagttggactcagagttaacagcccgacatgagctacaggtg
gaaatgaaaaagatggaaagtgactttgagcagaagcttcaagatcttcagggagaaaaa
gatgcactgcattctgaaaagcagcaaattgccacagagaaacaggacctggaagcagag
gtgtcccagctcacaggagaggttgccaagctgacaaaggaactggaagatgccaagaaa
gaaatggcttccctctctgcggcagctattactgtacctccttctgttcctagtcgtgct
cctgttccccctgcccctcctttacctggtgactctggcactattattccaccaccacct
gctcctggggatagtaccactcctcctcctcctcctcctcctcctcctcctccacctcct
ttgcctgggggtgtttgcatctcctcacccccttctttacctggaggtactgctatctct
ccaccccctcctttgtctggggatgctaccatccctccaccccctcctttgcctgagggt
gttggcatcccttcaccctcttctttgcctggaggtactgccatccccccacctcctcct
ttgcctgggagtgctagaatccccccaccaccacctcctttgcctgggagtgctggaatt
ccccccccacctcctcccttgcctggagaagcaggaatgccacctcctcctccccctctt
cctggtggtcctggaatccctccacctcctccatttcccggaggccctggcattcctcca
cctccacccggaatgggtatgcctccacctcccccatttggatttggagttcctgcagcc
ccagttctgccatttggattaacccccaaaaagctttataagccagaggtgcagctccgg
aggccaaactggtccaagcttgtggctgaggacctctcccaggactgcttctggacaaag
gtgaaggaggaccgctttgagaacaatgaacttttcgccaaacttacccttaccttctct
gcccagaccaagacttccaaagccaagaaggatcaagaaggtggagaagaaaagaaatct
gtgcaaaagaaaaaagtaaaagagttaaaggtgttggattcaaagacagcccagaatctc
tcaatctttttgggttccttccgcatgccctatcaagagattaagaatgtcatcctggag
gtgaatgaggctgttctgactgagtctatgatccagaacctcattaagcaaatgccagag
ccagagcagttaaaaatgctttctgaactgaaggatgaatatgatgacctggctgagtca
gagcagtttggcgtggtgatgggcactgtgccccgactgcggcctcgcctcaatgccatt
ctcttcaagctacaattcagcgagcaagtggagaatatcaagccagagattgtgtctgtc
actgctgcatgtgaggagttacgtaagagtgagagcttttccaatctcctagagattacc
ttgcttgttggaaattacatgaatgctggctccagaaatgctggtgcttttggcttcaat
atcagcttcctctgtaagcttcgagacaccaagtccacagatcagaagatgacgttgtta
cacttcttggctgagttgtgtgagaatgactatcccgatgtcctcaagtttccagacgag
cttgcccatgtggagaaagccagccgagtttctgctgaaaacttgcaaaagaacctagat
cagatgaagaaacaaatttctgatgtggaacgtgatgttcagaatttcccagctgccaca
gatgaaaaagacaagtttgttgaaaaaatgaccagctttgtgaaggatgcacaggaacag
tataacaagctgcggatgatgcattctaacatggagaccctctataaggagctgggcgag
tacttcctctttgaccccaagaagttgtctgttgaagaatttttcatggatcttcacaat
tttcggaatatgtttttgcaagcagtcaaggagaaccagaagcggcgggagacagaagaa
aagatgaggcgagcaaaactagccaaggagaaggcagagaaggagcggctagagaagcag
cagaagagagagcaactcatagacatgaatgcagagggcgatgagacaggtgtgatggac
agtcttctagaagccctgcagtcaggggcagcattccgacggaagagagggccccgtcaa
gccaacaggaaggccgggtgtgcagtcacatctctgctagcttcggagctgaccaaggat
gatgccatggctgctgttcctgccaaggtgtccaagaacagtgagacattccccacaatc
cttgaggaagccaaggagttggttggccgtgcaagctaa

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (4)   
   KEGG PATHWAY (4)   
Disease (5)   
   KEGG DISEASE (2)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (68)   
   KEGG ORTHOLOGY (1)   
   RefGene (58)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (10)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (7)   
DNA sequence (51)   
   RefSeq(nuc) (7)   
   GenBank (22)   
   EMBL (22)   
Protein domain (8)   
   Pfam (8)   
All databases (149)   

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