| Type | Description |
|---|---|
| Definition | ATP/GTP binding protein like 5 |
| Date | Results | Publications |
|---|---|---|
| 2019-09-07 13:01:00 | WES identified a homozygous frameshift mutation (c.1787_1788del, p.His596Argfs*47) in AGBL5, associated with nonsyndromic RP. | 30925032 |
| 2018-01-27 12:07:00 | Homology models indicated destabilization of AGBL5 due to the p.Arg281Cys change. | 27764769 |
| 2017-12-16 11:42:00 | Our study expands the clinical and allelic spectrum of known Retinal dystrophies genes, and reveals AGBL5, CDH16, and DNAJC17 as novel disease candidates. | 26355662 |
| 2017-05-27 10:26:00 | The identification of AGBL5 and TTLL5, a previously described RP-associated gene encoding the tubulin tyrosine ligase-like family, member 5 protein, highlights the importance of poly- and deglutamylation in retinal homeostasis. | 27842159 |
| 2016-05-14 11:08:00 | Due to the characteristic Retinitis Pigmentosa phenotype in patients carrying the AGBL5 missense mutation we suggest this gene as a candidate for a new form of autosomal recessively inherited RP | 26720455 |
| Type | IDs |
|---|---|
| Synonymous | CCP5, RP75 |
| Gene |
UniProtKB-ID:
CBPC5_HUMAN
UniprotKB:
Q8NDL9
UniParc:
UPI00002080CC,
UPI000006FE54,
UPI00003746B8
EMBL:
AL833844,
BC007415,
AK025492,
BC018584,
AK023398,
BC131498,
AC013403,
AC013472,
CH471053,
AK302091
Ensembl:
ENSG00000084693
KO:
hsa:60509
|
| Nucleutide sequences |
EMBL-CDS:
AAY14655.1,
BAB14560.1,
BAH13623.1,
EAX00651.1,
AAH07415.2,
BAB15151.1,
AAX93164.1,
AAI31499.1,
EAX00652.1,
EAX00649.1,
EAX00653.1,
CAD38704.1
Ensembl_TRS:
ENST00000323064,
ENST00000487078,
ENST00000360131
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000433830,
ENSP00000353249,
ENSP00000323681
RefSeq:
XP_011531315.1,
XP_005264534.1,
XP_011531313.1,
XP_011531314.1,
NP_068603.4,
NP_001030584.1
|
| Others |
UniRef100:
UniRef100_Q8NDL9
UniRef90:
UniRef90_Q8NDL9
UniRef50:
UniRef50_Q8NDL9
UniGene:
Hs.138207
CCDS:
CCDS1732.3,
CCDS42665.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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