Homo sapiens (human): 1729
Help
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
FH3_FHOD1-3
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)
Genome browser
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
Homo sapiens (human): 1730
Help
Entry
1730 CDS
T01001
Symbol
DIAPH2, DIA, DIA2, DRF2, POF, POF2, POF2A
Name
(RefSeq) diaphanous related formin 2
KO
K05741
diaphanous 2
Organism
hsa
Homo sapiens (human)
Pathway
hsa04810
Regulation of actin cytoskeleton
hsa04820
Cytoskeleton in muscle cells
Disease
H00627
Premature ovarian failure
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09140 Cellular Processes
09142 Cell motility
04820 Cytoskeleton in muscle cells
1730 (DIAPH2)
04810 Regulation of actin cytoskeleton
1730 (DIAPH2)
09180 Brite Hierarchies
09183 Protein families: signaling and cellular processes
04812 Cytoskeleton proteins [BR:
hsa04812
]
1730 (DIAPH2)
Cytoskeleton proteins [BR:
hsa04812
]
Eukaryotic cytoskeleton proteins
Actin filaments / Microfilaments
Actin-binding proteins
Formins
1730 (DIAPH2)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
FH2
Drf_FH3
Drf_GBD
FH3_FHOD1-3
Drf_DAD
DUF6779
EMP24_GP25L
Drf_FH1
Motif
Other DBs
NCBI-GeneID:
1730
NCBI-ProteinID:
NP_006720
OMIM:
300108
HGNC:
2877
Ensembl:
ENSG00000147202
UniProt:
O60879
LinkDB
All DBs
Position
X:96684842..97604997
Genome browser
AA seq
1101 aa
AA seq
DB search
MEQPGAAASGAGGGSEEPGGGRSNKRSAGNRAANEEETKNKPKLNIQIKTLADDVRDRIT
SFRKSTVKKEKPLIQHPIDSQVAMSEFPAAQPLYDERSLNLSEKEVLDLFEKMMEDMNLN
EEKKAPLRNKDFTTKREMVVQYISATAKSGGLKNSKHECTLSSQEYVHELRSGISDEKLL
NCLESLRVSLTSNPVSWVNNFGHEGLGLLLDELEKLLDKKQQENIDKKNQYKLIQCLKAF
MNNKFGLQRILGDERSLLLLARAIDPKQPNMMTEIVKILSAICIVGEENILDKLLGAITT
AAERNNRERFSPIVEGLENQEALQLQVACMQFINALVTSPYELDFRIHLRNEFLRSGLKT
MLPDLKEKENDELDIQLKVFDENKEDDLTELSHRLNDIRAEMDDMNEVYHLLYNMLKDTA
AENYFLSILQHFLLIRNDYYIRPQYYKIIEECVSQIVLHCSGMDPDFKYRQRLDIDLTHL
IDSCVNKAKVEESEQKAAEFSKKFDEEFTARQEAQAELQKRDEKIKELEAEIQQLRTQAQ
VLSSSSGIPGPPAAPPLPGVGPPPPPPAPPLPGGAPLPPPPPPLPGMMGIPPPPPPPLLF
GGPPPPPPLGGVPPPPGISLNLPYGMKQKKMYKPEVSMKRINWSKIEPTELSENCFWLRV
KEDKFENPDLFAKLALNFATQIKVQKNAEALEEKKTGPTKKKVKELRILDPKTAQNLSIF
LGSYRMPYEDIRNVILEVNEDMLSEALIQNLVKHLPEQKILNELAELKNEYDDLCEPEQF
GVVMSSVKMLQPRLSSILFKLTFEEHINNIKPSIIAVTLACEELKKSESFNRLLELVLLV
GNYMNSGSRNAQSLGFKINFLCKIRDTKSADQKTTLLHFIADICEEKYRDILKFPEELEH
VESASKVSAQILKSNLASMEQQIVHLERDIKKFPQAENQHDKFVEKMTSFTKTAREQYEK
LSTMHNNMMKLYENLGEYFIFDSKTVSIEEFFGDLNNFRTLFLEAVRENNKRREMEEKTR
RAKLAKEKAEQEKLERQKKKKQLIDINKEGDETGVMDNLLEALQSGAAFRDRRKRIPRNP
DNRRVPLERSRSRHNGAISSK
NT seq
3306 nt
NT seq
+upstream
nt +downstream
nt
atggagcagcccggggcggcggcgtcgggagcgggaggcggcagcgaggaacccggtggg
ggccggagcaacaagcggagcgcggggaaccgggccgccaatgaagaggaaacgaaaaac
aaacccaaattgaacattcaaataaaaactttggcagatgatgtgcgtgaccgaattaca
agttttagaaaatctactgtcaaaaaagaaaaacctcttattcaacatcctattgattct
caagtcgcgatgagtgagtttcctgcagctcagccattatatgatgaacgatctttgaat
ttgtcagaaaaggaagtattggatctctttgaaaaaatgatggaggacatgaaccttaac
gaagagaaaaaagctcctttacgaaacaaagactttaccaccaaacgtgagatggttgtc
cagtatatttctgccactgccaaatctggtgggctgaaaaacagcaaacatgaatgcacc
ctgtcttcacaagaatatgttcatgaattacgatcgggtatatcagatgagaaacttctt
aattgcctagaatccctcagggtttctttaaccagcaatccggtcagctgggttaacaac
tttggccatgaaggtcttggactcttattggatgagctggaaaagcttctggacaaaaaa
cagcaagaaaatattgacaagaagaatcagtataaacttattcaatgcctcaaagcattt
atgaataataagtttggattacaaaggattctaggagatgaaagaagtcttttactattg
gcaagagcaattgaccccaaacaacccaacatgatgactgaaatagtaaaaatactttct
gctatttgcattgttggagaagagaacattctagataaacttttaggggctataacaaca
gcagcagaaagaaataacagggaacgattttcaccaattgtggaaggtttagaaaatcag
gaagccttgcaattacaggtggcctgcatgcagtttataaatgcccttgtcacttctcct
tatgagcttgattttcgaatacatttaaggaatgaattcctccgttcaggactaaaaaca
atgttaccagatctaaaagaaaaagagaatgatgagcttgatattcagttgaaagtattt
gatgaaaacaaagaagatgacctaactgaattatcacaccgtctcaatgacattcgagca
gaaatggatgatatgaatgaagtctaccatcttctatataatatgctgaaggacactgct
gctgaaaattacttcttatctattctacaacattttttgcttatcagaaatgattattat
atcaggccacaatattataaaataattgaggaatgtgtttcacagatagtgctacactgc
agtggtatggatccagacttcaaatacaggcaaagattagacatcgatttaactcatctg
atagattcttgtgtgaacaaggcgaaagttgaagaaagtgaacaaaaagctgcagagttt
tcaaagaagttcgatgaagaattcacagctcgacaggaagctcaagcagagcttcaaaaa
agagatgagaaaatcaaagaacttgaagcagaaatccagcaacttcgaacccaggcacaa
gtactctcaagttcatcaggaattccaggtcctcctgcagcacctccattgccaggtgta
gggccgcctccaccaccacccgcgccacctctacccggaggagctcctcttcctcctcca
ccacctcctttacctggaatgatggggataccaccaccacccccaccaccacttttattt
gggggacctcctccaccaccaccccttggaggagttcctcctcccccaggaatatcactt
aatctaccttatggaatgaagcagaaaaaaatgtataaacctgaagtgtccatgaagaga
atcaattggtcaaagattgaacccacagaattatctgagaactgtttctggttaagagtc
aaagaagacaagtttgagaatccagatctctttgccaaattggcattgaattttgctact
cagataaaagttcaaaagaacgcagaagcattagaagaaaagaagactgggcctacaaag
aagaaagtgaaagaactgagaattttggatcccaaaacagctcagaatctgtccatcttt
ctgggatcatatcgcatgccatatgaagacataagaaacgttattctggaggttaatgaa
gacatgctgagtgaggctttaattcagaaccttgtgaaacatcttcctgagcagaagata
ctcaacgaattagcagagcttaagaatgaatatgatgacctctgtgagcctgaacaattt
ggagttgtgatgagctctgtgaaaatgttacagcctcgtctcagtagtatcctgttcaag
ctcacatttgaagaacacataaacaacatcaaaccaagcatcatagcagtaactcttgcc
tgtgaagaactgaagaaaagtgaaagctttaacagacttttagagttagttcttcttgtt
ggaaactacatgaactcaggctcaagaaatgcccagtctttgggatttaagatcaacttc
ctttgtaagatcagagatactaaatcagcggatcaaaaaacaacccttttgcattttatt
gccgacatttgtgaggaaaaatatcgagatatcctaaaatttcctgaagaactggaacac
gtagaaagtgcaagcaaagtttcagctcaaattctcaagagcaaccttgcatcaatggaa
caacaaattgttcatctggaacgtgacatcaagaaattcccccaagcagaaaatcaacac
gataagtttgtggaaaagatgaccagctttacaaagactgcccgagaacagtatgaaaaa
ctctccaccatgcacaacaacatgatgaagctctatgagaatcttggagaatacttcatt
tttgactcaaagacagtgagcatagaagagttctttggtgatctcaacaacttccgaact
ttgtttttggaagcagtgagagaaaacaataagagaagagaaatggaagagaagaccagg
agggcaaaacttgcaaaagagaaagctgaacaagaaaagttagaacgccagaagaaaaag
aaacaactcattgatataaacaaagagggtgatgagactggtgtgatggataatcttcta
gaagccctacaatcaggtgcagcattcagagaccgtcgaaagcggattccaaggaatcca
gataacagacgagtacctttggaaaggtcacgctctcgccacaatggagctatctcatct
aagtga
DBGET
integrated database retrieval system
