Protein : DIAPH1
Owner Public
URN urn:agi-llid:1729
Hugo ID 2876
Connectivity 101
Name DIAPH1
Description diaphanous homolog 1 (Drosophila) (predicted)
Notes This gene is a homolog of the Drosophila diaphanous gene, and has been linked to autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive low-frequency hearing loss. Actin polymerization involves proteins known to interact with diaphanous protein in Drosophila and mouse. It has therefore been speculated that this gene may have a role in the regulation of actin polymerization in hair cells of the inner ear.
RGD ID 1310707
MGI ID 1194490
Pathway Erk-PI3K in Collagen Binding
Group cell organization and biogenesis
actin cytoskeleton organization and biogenesis
actin filament polymerization
sensory perception of sound
cytoskeleton
protein binding
profilin binding
receptor binding
actin binding
Rho GTPase binding
GenBank ID NC_000005
NM_005219
NP_005210
NT_029289
NW_922784
AC_000048
AC008781
AB209482
BAD92719
AF051782
AAC05373
AK023345
BAB14533
AK057994
AK094264
AY360322
AAQ64023
AY363395
AAQ63049
BC007411
AAH07411
BC117257
AAI17258
BQ945734
BT007318
AAP35982
CR621303
O60610
Q59FH8
Q6URC4
Q6UUU0
Q7KZJ7
Q96IL1
NC_000084
NM_007858
NP_031884
NT_039674
NW_001030635
AC_000040
AC129315
AA222943
AA408148
AA408149
AK012707
BAB28425
AK135915
BAE22723
AK140734
BAE24459
AK156391
BAE33697
AK220466
BAD90493
BC012974
BC021396
BC024979
BC029331
BC070412
AAH70412
BM120370
U96963
AAC53280
O08808
Q5DTQ4
Q6NS79
Q9CSJ1
NC_005117
XM_226014
XP_226014
NW_001084735
XM_001065947
XP_001065947
NW_047511
AC_000086
Source Curated
LocusLink ID 1729
13367
307483
Organism Homo sapiens
Mus musculus
Rattus norvegicus
OMIM ID 602121
124900
Alias DRF1
DFNA1
LFHL1
hDIA1
FLJ25265
diaphanous 1
Diaphanous 1 variant
diaphanous-related formin 1
deafness, autosomal dominant 1
Dia1
KIAA4062
p140mDia
mKIAA4062
D18Wsu154e
diaphanous homolog 1
diaphanous homolog 1 (Drosophila) (predicted)
GO ID 0017048
0003779
0005522
0005102
0030036
0016043
0007605
0005856
0005515
0030041
Swiss-Prot Accession O60610
Q59FH8
Q6URC4
Q6UUU0
Q7KZJ7
Q96IL1
O08808
Q5DTQ4
Q6NS79
Q9CSJ1
Unigene ID Hs.529451
Mm.195916