Protein diaphanous homolog 1 is a protein that in humans is encoded by the DIAPH1 gene. This gene is a homolog of the Drosophila diaphanous gene and belongs...
11 KB (1,260 words) - 05:37, 8 November 2023
diaphanous, a Rho effector protein involved in cytoskeletal polymerisation (see DIAPH1) Men's Division of Intercollegiate Associates, now called the Men's Collegiate...
259 bytes (61 words) - 11:12, 16 October 2020
GTPase Effector RhoA Cit, Cnksr1, Diaph1, Diaph2, DgkQ, FlnA, KcnA2, Ktn1, Rtkn1, Rtkn2, Rhpn1, Rhpn2, Itpr1, PlcG1, PI-5-p5K, Pld1, Pkn1, Pkn2, Rock1...
25 KB (3,212 words) - 14:49, 7 September 2024
them, ROCK1 (Rho-associated, coiled-coil containing protein kinase 1) and DIAPH1 (Diaphanous Homologue 1, a.k.a. hDia1, homologue to mDia1 in mouse, diaphanous...
45 KB (5,373 words) - 10:46, 29 June 2024
mDia1 (also known as Dia1, Drf1 for Diaphanous-related formin-1, Diaph1, KIAA4062, p140mDia, mKIAA4062, or D18Wsu154e) is a member of the protein family...
16 KB (1,955 words) - 05:47, 5 April 2024
Q6P158 4264 DHX58 HGNC:29517 Q96C10 4265 DIABLO HGNC:21528 Q9NR28 4266 DIAPH1 HGNC:2876 O60610 4267 DIAPH2 HGNC:2877 O60879 4268 DIAPH3 HGNC:15480 Q9NSV4...
277 KB (17 words) - 18:34, 6 October 2024
nonsyndromic deafness, with weaker evidence currently implicating genes CCDC50, DIAPH1, DSPP, ESRRB, GJB3, GRHL2, GRXCR1, HGF, LHFPL5, LOXHD1, LRTOMT, MARVELD2...
20 KB (1,858 words) - 21:17, 11 October 2024
involves a splice site mutation in the formin-related homolog diaphanous 1 (DIAPH1). A single base change in a large Costa Rican family was identified as causative...
38 KB (4,694 words) - 07:56, 4 September 2024
with FAM63A: GSPT2, NAA38, RNMT, CSNIK1G2, ACOX1, PSMC1, SLC25A37, MMS19, DIAPH1, ME1, GAPDH, UBC. After performing a yeast two-hybrid screen, it was found...
14 KB (1,249 words) - 09:15, 10 March 2024
(June 2007). "Up-regulation of myometrial RHO effector proteins (PKN1 and DIAPH1) and CPI-17 (PPP1R14A) phosphorylation in human pregnancy is associated...
11 KB (1,258 words) - 21:52, 5 December 2022
2p16 t(5;2)(q32;p16) WDR48 3p22 t(5;3)q32;p22) GOLGB1 3q12 t(3;5)(q12;q32) DIAPH1 5q31 t(5;5)(q32;q31) TNIP1 5q33 t(5;5)(q32;q33) SART3 12q23 t(5;12)(q32;q23)...
31 KB (3,403 words) - 18:14, 24 December 2023
MYO18A, BIN2, COL1A1, DTD1 CPSF6, RABEP1, MPRIP, SPTBN1, WDR48, GOLGB1, DIAPH1, TNIP1, or SART3 gene create a fusion gene which codes for a chimeric protein...
48 KB (5,760 words) - 23:15, 2 December 2023
Sanctis–Cacchione syndrome; 278800; ERCC6 Deafness, autosomal dominant 1; 124900; DIAPH1 Deafness, autosomal dominant 10; 601316; EYA4 Deafness, autosomal dominant...
234 KB (18,877 words) - 15:43, 9 May 2024