| Type | Description |
|---|---|
| Definition | RAB3 GTPase activating protein catalytic subunit 1 |
| Date | Results | Publications |
|---|---|---|
| 2021-01-09 13:34:00 | [Analysis of a case of Warburg micro syndrome type 1 due to variant of RAB3GAP1 gene]. | 33306828 |
| 2020-04-25 12:29:00 | Mutations in RAB3GAP1 gene are associated with Martsolf and Warburg micro syndromes. | 30730599 |
| 2019-10-05 10:25:00 | overexpressing p130 or E2F4 significantly improved migration but not proliferation of mMSCs. Our data suggest that cell cycle regulation may be involved in p130/E2F4-mediated changes in the multipotential abilities of bone-marrow-derived mesenchymal stem cells (MSCs). | 29987913 |
| 2017-10-28 12:00:00 | Whole-exome sequencing, using DNA of the first fetus, was performed shortly after the birth of a male child, and two truncating RAB3GAP1 mutations were detected: c.538G>T; p. (Glu180*) and c.943C>T; p. (Arg315*). | 27256633 |
| 2017-10-14 13:05:00 | show that FOXC1 regulates the expression of RAB3GAP1, RAB3GAP2 and SNAP25 | 28575017 |
| Type | IDs |
|---|---|
| Synonymous | P130, RAB3GAP, RAB3GAP130, WARBM1 |
| Gene |
UniProtKB-ID:
RB3GP_HUMAN,
B9A6J2_HUMAN
UniprotKB:
Q15042,
B9A6J2
UniParc:
UPI0000072FAA,
UPI0000D4C196,
UPI0001574E67
EMBL:
AB449877,
BC022977,
BC146809,
AC017031,
CH471058,
D31886,
AC020602,
BC071602,
AL096752
Ensembl:
ENSG00000115839
KO:
hsa:22930
|
| Nucleutide sequences |
EMBL-CDS:
AAI46810.1,
BAA06684.1,
AAH22977.1,
CAH56411.1,
EAX11641.1,
BAH16620.1
Gene_ORFName:
hCG_25660
Ensembl_TRS:
ENST00000264158,
ENST00000539493,
ENST00000442034
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000444306,
ENSP00000411418,
ENSP00000264158
RefSeq:
NP_001165906.1,
XP_011509127.1,
NP_036365.1,
XP_011509125.1
|
| Others |
UniRef100:
UniRef100_Q15042
UniRef90:
UniRef90_Q15042
UniRef50:
UniRef50_Q15042
UniGene:
Hs.306327
CCDS:
CCDS33294.1,
CCDS54402.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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