| Type | Description |
|---|---|
| Definition | Ral GTPase activating protein catalytic alpha subunit 1 |
| Date | Results | Publications |
|---|---|---|
| 2020-04-18 11:48:00 | Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities. | 32004447 |
| 2015-01-10 11:01:00 | GARNL1/RalGAPalpha1 is amajor RalGAPalphasubunit in skeletal muscle, and is regulated by protein phosphorylation and 14-3-3 binding upon stimulation with insulin or muscle contraction. | 24768767 |
| 2010-06-30 22:07:00 | Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | 20379614 |
| 2010-02-22 11:28:00 | Reduced TULIP1 was found in lymphocytes from a developmentally delayed epileptic patient with a microdeletion of 14q13.1q13.3 and in cell lysates from other patients with a missense P297 mutation. | 19733229 |
| 2010-01-21 00:00:00 | RanGAP1 remains associated with RanBP2/Nup358 and the SUMO E2-conjugating enzyme Ubc9 in mitosis. | 15037602 |
| Type | IDs |
|---|---|
| Synonymous | GARNL1, GRIPE, RalGAPalpha1, TULIP1, p240 |
| Gene |
UniProtKB-ID:
RGPA1_HUMAN,
A0A1B0GUI1_HUMAN
UniprotKB:
Q6GYQ0,
A0A1B0GUI1
UniParc:
UPI000040315A,
UPI000192C4AD,
UPI00003B5C50,
UPI00003B5C51,
UPI0000403159,
UPI0007DC5B32,
UPI0000EE4A78,
UPI0000403158
EMBL:
AK126975,
AL160231,
BC042045,
AY596971,
AB511280,
AY596970,
AB020691,
AL162311,
AL137818,
BC042013,
BC150596,
AL834362
Ensembl:
ENSG00000174373
KO:
hsa:253959
|
| Nucleutide sequences |
EMBL-CDS:
BAC86772.1,
AAT49271.1,
AAH42045.1,
CAD39026.1,
BAH83561.1,
AAT49272.1,
BAA74907.1,
AAI50597.1,
AAH42013.1
Ensembl_TRS:
ENST00000382366,
ENST00000307138,
ENST00000553892,
ENST00000389698,
ENST00000637992
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000451877,
ENSP00000374348,
ENSP00000371803,
ENSP00000302647,
ENSP00000490119
RefSeq:
XP_006720167.1,
XP_005267555.1,
XP_006720163.1,
XP_005267549.1,
XP_016876635.1,
NP_001333175.1,
XP_011534917.1,
XP_006720164.1,
NP_055805.1,
NP_001269973.1,
XP_006720161.1,
XP_016876632.1,
NP_001269972.1,
NP_001333176.1,
XP_006720162.1,
XP_024305291.1,
NP_001333178.1,
NP_001333172.1,
XP_016876636.1,
XP_011534918.1,
NP_001333177.1,
NP_001317004.1,
NP_919277.2,
NP_001333174.1
|
| Others |
UniRef100:
UniRef100_A0A1B0GUI1,
UniRef100_Q6GYQ0
UniRef90:
UniRef90_Q6GYQ0,
UniRef90_A0A2I3LKL9
UniRef50:
UniRef50_Q6GYP7,
UniRef50_Q6GYQ0-4
UniGene:
Hs.113150
CCDS:
CCDS61439.1,
CCDS32065.1,
CCDS32064.1,
CCDS61440.1
|
| {{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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