KEGG   Homo sapiens (human): 81624
Entry
81624             CDS       T01001                                 
Symbol
DIAPH3, AN, AUNA1, DIA2, DRF3, NSDAN, diap3, mDia2
Name
(RefSeq) diaphanous related formin 3
  KO
K05745  diaphanous 3
Organism
hsa  Homo sapiens (human)
Pathway
hsa04810  Regulation of actin cytoskeleton
Disease
H02339  Auditory neuropathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09142 Cell motility
   04810 Regulation of actin cytoskeleton
    81624 (DIAPH3)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins [BR:hsa04812]
    81624 (DIAPH3)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Actin filaments / Microfilaments
   Actin-binding proteins
    Formins
     81624 (DIAPH3)
SSDB
Motif
Pfam: FH2 Drf_FH3 Drf_GBD Drf_DAD DUF5984 DUF2730 Alpha-E
Other DBs
NCBI-GeneID: 81624
NCBI-ProteinID: NP_001035982
OMIM: 614567
HGNC: 15480
Ensembl: ENSG00000139734
Pharos: Q9NSV4(Tbio)
UniProt: Q9NSV4 B4DPV3
Structure
LinkDB
Position
13:complement(59665583..60163928)
AA seq 1193 aa
MERHQPRLHHPAQGSAAGTPYPSSASLRGCRESKMPRRKGPQHPPPPSGPEEPGEKRPKF
HLNIRTLTDDMLDKFASIRIPGSKKERPPLPNLKTAFASSDCSAAPLEMMENFPKPLSEN
ELLELFEKMMEDMNLNEDKKAPLREKDFSIKKEMVMQYINTASKTGSLKRSRQISPQEFI
HELKMGSADERLVTCLESLRVSLTSNPVSWVESFGHEGLGLLLDILEKLISGKIQEKVVK
KNQHKVIQCLKALMNTQYGLERIMSEERSLSLLAKAVDPRHPNMMTDVVKLLSAVCIVGE
ESILEEVLEALTSAGEEKKIDRFFCIVEGLRHNSVQLQVACMQLINALVTSPDDLDFRLH
IRNEFMRCGLKEILPNLKCIKNDGLDIQLKVFDEHKEEDLFELSHRLEDIRAELDEAYDV
YNMVWSTVKETRAEGYFISILQHLLLIRNDYFIRQQYFKLIDECVSQIVLHRDGMDPDFT
YRKRLDLDLTQFVDICIDQAKLEEFEEKASELYKKFEKEFTDHQETQAELQKKEAKINEL
QAELQAFKSQFGALPADCNIPLPPSKEGGTGHSALPPPPPLPSGGGVPPPPPPPPPPPLP
GMRMPFSGPVPPPPPLGFLGGQNSPPLPILPFGLKPKKEFKPEISMRRLNWLKIRPHEMT
ENCFWIKVNENKYENVDLLCKLENTFCCQQKERREEEDIEEKKSIKKKIKELKFLDSKIA
QNLSIFLSSFRVPYEEIRMMILEVDETRLAESMIQNLIKHLPDQEQLNSLSQFKSEYSNL
CEPEQFVVVMSNVKRLRPRLSAILFKLQFEEQVNNIKPDIMAVSTACEEIKKSKSFSKLL
ELVLLMGNYMNAGSRNAQTFGFNLSSLCKLKDTKSADQKTTLLHFLVEICEEKYPDILNF
VDDLEPLDKASKVSVETLEKNLRQMGRQLQQLEKELETFPPPEDLHDKFVTKMSRFVISA
KEQYETLSKLHENMEKLYQSIIGYYAIDVKKVSVEDFLTDLNNFRTTFMQAIKENIKKRE
AEEKEKRVRIAKELAERERLERQQKKKRLLEMKTEGDETGVMDNLLEALQSGAAFRDRRK
RTPMPKDVRQSLSPMSQRPVLKVCNHENQKVQLTEGSRSHYNINCNSTRTPVAKELNYNL
DTHTSTGRIKAAEKKEACNVESNRKKETELLGSFSKNESVPEVEALLARLRAL
NT seq 3582 nt   +upstreamnt  +downstreamnt
atggaacggcaccagccgcggctgcaccacccggcccaaggctcagccgctgggactccc
tacccttcctcagcctctctccgcggctgccgggaaagcaagatgccgcgcaggaagggc
ccccaacaccctccgccgcccagtggccccgaggagcctggggagaagcgccccaagttt
catttaaatattaggacactgacggatgatatgctggacaaatttgccagcataagaatt
ccagggagcaagaaagagagacctccacttcccaacctgaagactgcatttgcaagcagt
gattgctcagcagcacctttagagatgatggagaactttccaaagccactgtcagagaat
gaactcttagaactttttgaaaaaatgatggaagatatgaatttaaatgaagataaaaag
gcaccattgcgggaaaaggacttcagtatcaaaaaagaaatggtgatgcagtacattaat
actgcttctaagacaggaagtcttaagagaagccgacagatctcacctcaggaattcatt
catgagctgaaaatggggtctgcagatgagagacttgtcacatgcctggagtctctccga
gtgtctttgaccagcaatcctgtgagttgggtggaaagctttggacatgaagggcttgga
ttattattagacattttggaaaaactgattagtggaaaaatccaagaaaaagttgtaaag
aaaaatcaacataaagtcatacagtgtctaaaagccctgatgaatacgcagtatggcttg
gaaagaattatgagtgaggagaggagcctttccttattggccaaagccgtggatcccaga
caccccaatatgatgacagatgtggttaaacttctctctgcggtatgcattgtaggggaa
gaaagcatccttgaagaagttttagaagctttaacttcagctggtgaagaaaaaaaaatt
gacagatttttttgtattgtggaaggcctccggcacaattcagttcaactgcaagtagct
tgtatgcagctcatcaatgccctggttacatctcctgatgatttggatttcaggcttcac
atcagaaatgaatttatgcgttgtggattgaaagagatattgccaaatttaaaatgcatt
aagaatgatggcctggatatccaacttaaagtctttgatgagcataaagaagaagatttg
tttgagttatcccatcgccttgaagatattagagctgaacttgatgaagcatatgatgtt
tacaacatggtgtggagcacagttaaagaaactagagcagagggatattttatttctatt
cttcagcatcttttgctgattcgaaatgattattttataaggcaacaatacttcaaatta
attgatgagtgtgtatcccagattgtattgcatagagatggaatggatccagacttcaca
tatcgaaaaagactagatttagatttaacccagtttgtagacatttgcatagatcaagca
aaactagaagagtttgaagagaaagcatcagaactttacaagaaatttgaaaaagagttt
accgaccaccaagaaactcaggctgaattgcagaaaaaagaggcaaagattaatgagctt
caagcagagctacaagcttttaagtctcagtttggtgccttgccagctgattgtaatatt
cctttgcctccctctaaagaaggtggaactggccactcagcacttcctcctccgcctcca
ctgccttctggtggaggggtgccgcctccacctcctcccccaccacctcctccacttcca
ggaatgcggatgccattcagtggtcctgtgcctccaccacctcccctgggattccttgga
ggacaaaattctcctcctctaccaatcctgccatttgggttgaaaccaaagaaagaattt
aaacctgaaatcagcatgagaagattgaattggttaaagatcagacctcatgaaatgact
gaaaactgtttctggataaaagtaaatgaaaataagtatgaaaacgtggatttgctttgt
aaacttgagaatacattttgttgccaacaaaaagagagaagagaagaggaagatattgaa
gagaagaaatcgattaagaaaaaaattaaagaacttaagtttttagattctaaaattgcc
cagaacctttcaatcttcctgagctcttttcgggtgccatatgaggaaatcagaatgatg
atattggaagtagatgaaacacggttggcagagtctatgattcagaacttaataaagcat
cttcctgatcaagagcaattaaattcattgtctcagttcaagagtgaatatagcaactta
tgtgaacctgagcagtttgtggttgtgatgagcaatgtgaagagactacggccacggctc
agtgctattctctttaagcttcagtttgaagagcaggtgaacaacatcaaacctgacatc
atggctgtcagtactgcctgcgaagagataaagaagagcaaaagctttagcaagttgctg
gaacttgtattgctaatgggaaactacatgaatgctggctcccggaatgctcaaaccttc
ggatttaaccttagctctctctgtaaactaaaggacacaaaatcagcagatcagaaaaca
acgctacttcatttcctggtagaaatatgtgaagagaagtaccctgatatactgaatttt
gtggatgatttggaacctttagacaaagctagtaaagtctctgtagaaacgctggaaaag
aatttgaggcagatgggaaggcagcttcaacagcttgagaaggaattggaaacctttccc
cctcctgaggacttgcatgacaagtttgtgacaaagatgtccagatttgttatcagtgca
aaagaacaatatgagacactttcgaagttacacgaaaacatggaaaagttataccagagt
ataataggatactatgccattgatgtgaagaaggtgtctgtggaagactttcttactgac
ctgaataacttcagaaccacattcatgcaagcaataaaggagaatatcaaaaaaagagaa
gcagaggaaaaagaaaaacgtgtcagaatagctaaagaattagcagagcgagaaagactc
gaacgccaacaaaagaaaaagcgtttattagaaatgaagactgagggtgatgagacagga
gtgatggataatctgctggaggccttgcagtccggggctgccttccgcgacagaagaaaa
aggacaccgatgccaaaagatgttcggcagagtctcagtccaatgtctcagaggcctgtt
ctgaaagtttgtaaccatgaaaatcagaaagtgcagttgacagaagggtcacgttcacac
tacaatatcaattgcaactcaacaaggactccagtcgccaaggagcttaattataatcta
gacactcatacgtctactgggaggatcaaggcagctgagaagaaggaagcgtgtaatgta
gaaagcaacagaaaaaaggaaacggaacttcttggctctttttctaaaaatgaatcagtt
cccgaagttgaagccctgctggcaagattacgagctttataa

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