| Type | Description |
|---|---|
| Definition | pleckstrin homology and RhoGEF domain containing G4 |
| Date | Results | Publications |
|---|---|---|
| 2015-05-16 10:56:00 | Role of the guanine nucleotide exchange factor in Akt2-mediated plasma membrane translocation of GLUT4 in insulin-stimulated skeletal muscle. | 25025572 |
| 2011-08-27 10:14:00 | This letter suggested cerebellar ataxia due to a pentanucleotide repeat (TAGAA) expansion on the puratrophin-1 (PLEKHG4) gene on chromosome 16q-22.1. | 21357611 |
| 2011-01-22 10:28:00 | (TGGAA)(n) repeats in the insertion mutation of PLEKHG4 are related to the pathogenesis of SCA31 | 20424877 |
| 2010-01-21 00:00:00 | the autosomal dominant cerebellar ataxia that we have characterized is allelic with SCA4 and Japanese 16q-linked ADCA type III. | 15455264 |
| 2010-01-21 00:00:00 | Mutations of the puratrophin1 gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population. | 16491300 |
| Type | IDs |
|---|---|
| Synonymous | ARHGEF44, PRTPHN1, SCA4 |
| Gene |
UniProtKB-ID:
PKHG4_HUMAN,
A0A024R6X4_HUMAN
UniprotKB:
Q58EX7,
A0A024R6X4
UniParc:
UPI0000552FF7,
UPI000013C774,
UPI00001FF3DB
EMBL:
LS482406,
AL117435,
AK024475,
BC054486,
AB197663,
BC063501,
CH471092,
AB197664,
BC082974
Ensembl:
ENSG00000196155
KO:
hsa:25894
|
| Nucleutide sequences |
EMBL-CDS:
AAH82974.1,
AAH63501.1,
CAB55923.1,
BAE07054.1,
BAB15765.1,
AAH54486.1,
BAE07055.1,
SPT35783.1,
EAW83121.1,
EAW83119.1,
EAW83117.1
Gene_ORFName:
hCG_1811728
Ensembl_TRS:
ENST00000563969,
ENST00000450733,
ENST00000360461,
ENST00000393966,
ENST00000427155,
ENST00000379344
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000398030,
ENSP00000353646,
ENSP00000368649,
ENSP00000462601,
ENSP00000457086,
ENSP00000401118
RefSeq:
NP_001123199.1,
NP_001123200.1,
NP_001123201.1,
XP_011521287.1,
XP_011521290.1,
NP_001123203.1,
XP_011521288.1,
XP_011521289.1
|
| Others |
UniRef100:
UniRef100_Q58EX7
UniRef90:
UniRef90_Q58EX7
UniRef50:
UniRef50_Q58EX7
UniGene:
Hs.188781
CCDS:
CCDS45512.1,
CCDS32466.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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