| Type | Description |
|---|---|
| Definition | ATP/GTP binding protein 1 |
| Date | Results | Publications |
|---|---|---|
| 2020-06-13 10:24:00 | We conclude that complete loss-of-function of AGTPBP1 in humans, just like in mice and sheep, is associated with cerebellar and motor neuron disease, reminiscent of Pontocerebellar Hypoplasia Type 1 (PCH1). | 30976113 |
| 2019-10-05 11:55:00 | biallelic rare and damaging variants in the gene encoding CCP1 in 13 individuals with infantile-onset neurodegeneration and confirmed the absence of functional CCP1 along with dysregulated tubulin polyglutamylation. | 30420557 |
| 2015-09-05 11:26:00 | we identified seven new putative CCP1 substrates, all of them harboring acidic amino acids in their gene-encoded C terminus | 25381060 |
| 2013-08-31 11:24:00 | Data indicate that a functional nuclear export signals (NESs) in CCP1 that mediates direct binding to the export receptor CRM1. | 23242554 |
| Type | IDs |
|---|---|
| Synonymous | CCP1, CONDCA, NNA1 |
| Gene |
UniProtKB-ID:
CBPC1_HUMAN,
A0A024R288_HUMAN,
J3KNS1_HUMAN
UniprotKB:
Q9UPW5,
A0A024R288,
J3KNS1
UniParc:
UPI0000210BFC,
UPI0001AE6E82,
UPI000013CF66,
UPI000387D56E
EMBL:
AL157882,
CH471089,
AL451131,
BC060815,
AK023280,
BX648366,
AK022562,
AK299506,
AB028958,
AK295774,
AK001544,
AL833359
Ensembl:
ENSG00000135049
KO:
hsa:23287
|
| Nucleutide sequences |
EMBL-CDS:
CAH56222.1,
CAH56158.1,
BAB14100.1,
BAG61460.1,
BAB14505.1,
EAW62697.1,
BAG58598.1,
BAA82987.2,
EAW62698.1,
AAH60815.1,
BAA91749.1,
EAW62694.1,
EAW62699.1,
EAW62696.1
Gene_ORFName:
hCG_1743691
Ensembl_TRS:
ENST00000376083,
ENST00000357081,
ENST00000628899,
ENST00000337006
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000487074,
ENSP00000365251,
ENSP00000349592,
ENSP00000338512
RefSeq:
XP_005251905.1,
NP_001273646.1,
XP_016870035.1,
XP_011516723.1,
XP_005251906.1,
XP_011516722.1,
XP_016870039.1,
XP_011516720.1,
XP_016870034.1,
XP_016870037.1,
NP_056054.2,
XP_016870038.1,
NP_001317630.1,
XP_016870036.1,
NP_001273644.1,
XP_024303240.1
|
| Others |
UniRef100:
UniRef100_A0A024R288,
UniRef100_J3KNS1,
UniRef100_Q9UPW5
UniRef90:
UniRef90_Q9UPW5
UniRef50:
UniRef50_Q9UPW5
UniGene:
Hs.719980
CCDS:
CCDS6672.1,
CCDS69615.1,
CCDS83382.1
|
| {{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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