KEGG T01001: 1729

Homo sapiens (human): 1729

Entry

1729 CDS T01001

Gene name

DIAPH1, DFNA1, DIA1, DRF1, LFHL1, hDIA1

Definition

diaphanous homolog 1 (Drosophila)

Orthology

K05740

diaphanous 1

Organism

hsa Homo sapiens (human)

Pathway

hsa04510	Focal adhesion
hsa04810	Regulation of actin cytoskeleton
hsa05131	Shigellosis

Disease

H00604

Deafness, autosomal dominant

Class

Cellular Processes; Cell motility; Regulation of actin cytoskeleton [PATH:hsa04810]
Cellular Processes; Cell communication; Focal adhesion [PATH:hsa04510]
Human Diseases; Infectious diseases; Shigellosis [PATH:hsa05131]

SSDB

Motif

Pfam:

FH2 Drf_FH3 Drf_GBD Drf_FH1 Drf_DAD ERM Reo_sigmaC

Other DBs

NCBI-GI:

NCBI-GeneID:

OMIM:

HGNC:

HPRD:

Ensembl:

Vega:

UniProt:

Position

5q31

AA seq 1263 aa
MEPPGGSLGPGRGTRDKKKGRSPDELPSAGGDGGKSKKFLERFTSMRIKKEKEKPNSAHR
NSSASYGDDPTAQSLQDVSDEQVLVLFEQMLLDMNLNEEKQQPLREKDIIIKREMVSQYL
YTSKAGMSQKESSKSAMMYIQELRSGLRDMPLLSCLESLRVSLNNNPVSWVQTFGAEGLA
SLLDILKRLHDEKEETAGSYDSRNKHEIIRCLKAFMNNKFGIKTMLETEEGILLLVRAMD
PAVPNMMIDAAKLLSALCILPQPEDMNERVLEAMTERAEMDEVERFQPLLDGLKSGTTIA
LKVGCLQLINALITPAEELDFRVHIRSELMRLGLHQVLQDLREIENEDMRVQLNVFDEQG
EEDSYDLKGRLDDIRMEMDDFNEVFQILLNTVKDSKAEPHFLSILQHLLLVRNDYEARPQ
YYKLIEECISQIVLHKNGADPDFKCRHLQIEIEGLIDQMIDKTKVEKSEAKAAELEKKLD
SELTARHELQVEMKKMESDFEQKLQDLQGEKDALHSEKQQIATEKQDLEAEVSQLTGEVA
KLTKELEDAKKEMASLSAAAITVPPSVPSRAPVPPAPPLPGDSGTIIPPPPAPGDSTTPP
PPPPPPPPPPPLPGGVCISSPPSLPGGTAISPPPPLSGDATIPPPPPLPEGVGIPSPSSL
PGGTAIPPPPPLPGSARIPPPPPPLPGSAGIPPPPPPLPGEAGMPPPPPPLPGGPGIPPP
PPFPGGPGIPPPPPGMGMPPPPPFGFGVPAAPVLPFGLTPKKLYKPEVQLRRPNWSKLVA
EDLSQDCFWTKVKEDRFENNELFAKLTLTFSAQTKTSKAKKDQEGGEEKKSVQKKKVKEL
KVLDSKTAQNLSIFLGSFRMPYQEIKNVILEVNEAVLTESMIQNLIKQMPEPEQLKMLSE
LKDEYDDLAESEQFGVVMGTVPRLRPRLNAILFKLQFSEQVENIKPEIVSVTAACEELRK
SESFSNLLEITLLVGNYMNAGSRNAGAFGFNISFLCKLRDTKSTDQKMTLLHFLAELCEN
DYPDVLKFPDELAHVEKASRVSAENLQKNLDQMKKQISDVERDVQNFPAATDEKDKFVEK
MTSFVKDAQEQYNKLRMMHSNMETLYKELGEYFLFDPKKLSVEEFFMDLHNFRNMFLQAV
KENQKRRETEEKMRRAKLAKEKAEKERLEKQQKREQLIDMNAEGDETGVMDSLLEALQSG
AAFRRKRGPRQANRKAGCAVTSLLASELTKDDAMAAVPAKVSKNSETFPTILEEAKELVG
RAS

NT seq 3792 nt +upstreamnt +downstreamnt
atggagccgcccggcgggagcctggggcccggccgcgggacccgggacaagaagaagggc
cggagcccagatgagctgccctcggcgggcggcgacggcggcaaatctaagaaatttctg
gagagatttaccagcatgagaattaagaaggagaaggaaaagcccaattctgctcataga
aattcttctgcatcatatggggatgatcccacagcacagtcattgcaagatgtttcagat
gaacaagtgctggttctctttgaacagatgctgctggatatgaacctgaatgaggagaaa
cagcaacctttgagggagaaggacatcatcatcaagagggagatggtgtcccaatacttg
tacacctccaaggctggcatgagccagaaggagagctctaagtctgccatgatgtatatt
caggagttgaggtcaggcttgcgggatatgcctctgctcagctgcctggagtcccttcgt
gtgtctctcaacaacaaccctgtcagttgggtgcaaacatttggtgctgaaggcttggcc
tccttattggacattcttaaacgacttcatgatgagaaagaagagactgctgggagttac
gatagccggaacaagcatgagatcattcgctgcttgaaagcttttatgaacaacaagttt
ggaatcaagaccatgttggagacagaagaaggaatcctactgctggtcagagccatggat
cctgctgttcccaacatgatgattgatgcagctaagctgctttctgctctttgtattcta
ccgcagccagaggacatgaatgaaagggttttggaggcaatgacagaaagagctgagatg
gatgaagtggaacgtttccagccgctgctggatggattaaaaagtggaaccactattgca
ctgaaggttggatgcctacagctgatcaatgctctcatcacaccagcggaggaacttgac
ttccgagttcacatcagaagtgaactgatgcgtttggggctacatcaggtgttgcaggac
cttcgagagattgaaaatgaagatatgagagtgcaactaaatgtgtttgatgaacaaggg
gaagaggattcctatgacctgaagggacggctggatgacattcgcatggagatggatgac
tttaatgaagtctttcagattctcttaaacacagtgaaggattcaaaggcagagccacac
ttcctttccatcctgcagcacttactcttggtccgaaatgactatgaggccagacctcag
tactataagttgattgaagaatgtatttcccagatagttctgcacaagaacggggctgat
cctgacttcaagtgccggcacctccagattgagattgagggattaattgatcaaatgatt
gataagacaaaggtggagaaatctgaagccaaagctgcagagctggaaaagaagttggac
tcagagttaacagcccgacatgagctacaggtggaaatgaaaaagatggaaagtgacttt
gagcagaagcttcaagatcttcagggagaaaaagatgcactgcattctgaaaagcagcaa
attgccacagagaaacaggacctggaagcagaggtgtcccagctcacaggagaggttgcc
aagctgacaaaggaactggaagatgccaagaaagaaatggcttccctctctgcggcagct
attactgtacctccttctgttcctagtcgtgctcctgttccccctgcccctcctttacct
ggtgactctggcactattattccaccaccacctgctcctggggatagtaccactcctcct
cctcctcctcctcctcctcctcctccacctcctttgcctgggggtgtttgcatctcctca
cccccttctttacctggaggtactgctatctctccaccccctcctttgtctggggatgct
accatccctccaccccctcctttgcctgagggtgttggcatcccttcaccctcttctttg
cctggaggtactgccatccccccacctcctcctttgcctgggagtgctagaatcccccca
ccaccacctcctttgcctgggagtgctggaattccccccccacctcctcccttgcctgga
gaagcaggaatgccacctcctcctccccctcttcctggtggtcctggaatccctccacct
cctccatttcccggaggccctggcattcctccacctccacccggaatgggtatgcctcca
cctcccccatttggatttggagttcctgcagccccagttctgccatttggattaaccccc
aaaaagctttataagccagaggtgcagctccggaggccaaactggtccaagcttgtggct
gaggacctctcccaggactgcttctggacaaaggtgaaggaggaccgctttgagaacaat
gaacttttcgccaaacttacccttaccttctctgcccagaccaagacttccaaagccaag
aaggatcaagaaggtggagaagaaaagaaatctgtgcaaaagaaaaaagtaaaagagtta
aaggtgttggattcaaagacagcccagaatctctcaatctttttgggttccttccgcatg
ccctatcaagagattaagaatgtcatcctggaggtgaatgaggctgttctgactgagtct
atgatccagaacctcattaagcaaatgccagagccagagcagttaaaaatgctttctgaa
ctgaaggatgaatatgatgacctggctgagtcagagcagtttggcgtggtgatgggcact
gtgccccgactgcggcctcgcctcaatgccattctcttcaagctacaattcagcgagcaa
gtggagaatatcaagccagagattgtgtctgtcactgctgcatgtgaggagttacgtaag
agtgagagcttttccaatctcctagagattaccttgcttgttggaaattacatgaatgct
ggctccagaaatgctggtgcttttggcttcaatatcagcttcctctgtaagcttcgagac
accaagtccacagatcagaagatgacgttgttacacttcttggctgagttgtgtgagaat
gactatcccgatgtcctcaagtttccagacgagcttgcccatgtggagaaagccagccga
gtttctgctgaaaacttgcaaaagaacctagatcagatgaagaaacaaatttctgatgtg
gaacgtgatgttcagaatttcccagctgccacagatgaaaaagacaagtttgttgaaaaa
atgaccagctttgtgaaggatgcacaggaacagtataacaagctgcggatgatgcattct
aacatggagaccctctataaggagctgggcgagtacttcctctttgaccccaagaagttg
tctgttgaagaatttttcatggatcttcacaattttcggaatatgtttttgcaagcagtc
aaggagaaccagaagcggcgggagacagaagaaaagatgaggcgagcaaaactagccaag
gagaaggcagagaaggagcggctagagaagcagcagaagagagagcaactcatagacatg
aatgcagagggcgatgagacaggtgtgatggacagtcttctagaagccctgcagtcaggg
gcagcattccgacggaagagagggccccgtcaagccaacaggaaggccgggtgtgcagtc
acatctctgctagcttcggagctgaccaaggatgatgccatggctgctgttcctgccaag
gtgtccaagaacagtgagacattccccacaatccttgaggaagccaaggagttggttggc
cgtgcaagctaa

All links

Ontology (1)   
   KEGG BRITE (1)   
Pathway (3)   
   KEGG PATHWAY (3)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (22)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (14)   
   UniGene (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
   OC (1)   
   VEGA (1)   
Protein sequence (4)   
   UniProt (2)   
   RefSeq(pep) (2)   
DNA sequence (44)   
   RefSeq(nuc) (2)   
   GenBank (21)   
   EMBL (21)   
Protein domain (7)   
   Pfam (7)   
All databases (85)   

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