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

Gene name
DIAPH1, DFNA1, DIA1, DRF1, LFHL1, SCBMS, hDIA1
Definition
(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
  09167 Endocrine and metabolic disease
   04933 AGE-RAGE signaling pathway in diabetic complications
    1729 (DIAPH1)
  09171 Infectious disease: bacterial
   05131 Shigellosis
    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

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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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