| Type | Description |
|---|---|
| Definition | FYVE, RhoGEF and PH domain containing 1 |
| Date | Results | Publications |
|---|---|---|
| 2021-03-27 14:44:00 | Intersection of TKS5 and FGD1/CDC42 signaling cascades directs the formation of invadopodia. | 32673397 |
| 2018-01-27 10:12:00 | Sequencing analyses in numerous types of cancer have found missense mutations in the FGD1 gene in metastatic tumors. | 27199457 |
| 2017-12-30 10:24:00 | A novel variant in FGD1 (a novel hemizygous mutation in FGD1 c.53del (p.Pro18Argfs*106) for which the mother is heterozygous) was found in an Emirati family with two brothers suffering from Aarskog-Scott syndrome. The variant is predicted to be a null mutation, and this is the first report of its kind from the United Arab Emirates. | 28103835 |
| 2017-05-06 10:40:00 | Splice site mutation of FGD1 gene is associated with Aarskog-Scott syndrome patient with a large anterior fontanel. | 27544718 |
| 2015-05-30 12:19:00 | Results identify a novel mutation of FDG1 in a family with Aarskog syndrome and underscore the phenotypical variability of this condition. | 24770546 |
| Type | IDs |
|---|---|
| Synonymous | AAS, FGDY, MRXS16, ZFYVE3 |
| Gene |
UniProtKB-ID:
FGD1_HUMAN,
A0A024R9Y5_HUMAN
UniprotKB:
P98174,
A0A024R9Y5
UniParc:
UPI000012A705
EMBL:
U11690,
CH471154,
BC034530,
Z85987
Ensembl:
ENSG00000102302
KO:
hsa:2245
|
| Nucleutide sequences |
EMBL-CDS:
AAA57004.1,
EAW93179.1,
AAH34530.1,
EAW93180.1,
EAW93181.1
Gene_ORFName:
hCG_18309
Ensembl_TRS:
ENST00000375135
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000364277
RefSeq:
NP_004454.2
|
| Others |
UniRef100:
UniRef100_P98174
UniRef90:
UniRef90_P98174
UniRef50:
UniRef50_P98174
UniGene:
Hs.709201
CCDS:
CCDS14359.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| 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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