Homo sapiens (human): 1729
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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
hsa04820
Cytoskeleton in muscle cells
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
04820 Cytoskeleton in muscle cells
1729 (DIAPH1)
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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
FH2
Drf_FH3
Drf_GBD
Drf_FH1
Drf_DAD
DUF3450
Glucan_synthase
Motif
Other DBs
NCBI-GeneID:
1729
NCBI-ProteinID:
NP_005210
OMIM:
602121
HGNC:
2876
Ensembl:
ENSG00000131504
UniProt:
O60610
Q6URC4
Structure
PDB
PDBj
LinkDB
All DBs
Position
5:complement(141515021..141619000)
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AA seq
1272 aa
AA seq
DB search
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
NT seq
+upstream
nt +downstream
nt
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
DBGET
integrated database retrieval system
