| Type | Description |
|---|---|
| Definition | golgin, RAB6 interacting |
| Date | Results | Publications |
|---|---|---|
| 2019-02-23 13:15:00 | Loss of RAB6-interacting golgin (GORAB) causes impairment of coat protein complex I (COPI)-mediated retrieval of trans-Golgi enzymes, resulting in a deficit in glycosylation of secretory cargo proteins. | 30631079 |
| 2018-03-31 12:18:00 | Novel compound heterozygous nonsense mutations were identified in the GORAB gene of a geroderma osteodysplastica patient. | 28807865 |
| 2017-05-27 10:24:00 | in the present study a de novo deletion on 1q23.3-q24.2 combined with a GORAB missense mutation leads to a distinctive phenotype with features from Gerodermia osteodysplastica and also short stature, cutis laxa, frequent fractures, facial dysmorphism, cup-shaped ears and intellectual disability | 27604556 |
| 2016-11-05 10:57:00 | SCYL1- BP1 affects the cell cycle through increasing steady state levels of Cyclin F and RRM2 proteins, thus constituting a dual regulatory circuit | 25980818 |
| 2016-03-12 10:18:00 | rs17684886 (ZNRF1) and rs599019 (COLEC12) are associated with diabetic retinopathy and rs6427247 (SCYL1BP1) and rs899036 (API5) are associated with severe diabetic retinopathy in Chinese patients with type 2 diabetes | 25819896 |
| Type | IDs |
|---|---|
| Synonymous | GO, NTKLBP1, SCYL1BP1 |
| Gene |
UniProtKB-ID:
GORAB_HUMAN,
B3KQ87_HUMAN
UniprotKB:
Q5T7V8,
B3KQ87
UniParc:
UPI000023312D,
UPI000178DFE5,
UPI0000204D63,
UPI000013FDCA,
UPI000048AA77
EMBL:
BC064945,
AL162399,
AK021814,
BC047476,
AF143889,
AK057661
Ensembl:
ENSG00000120370
KO:
hsa:92344
|
| Nucleutide sequences |
EMBL-CDS:
BAB13903.1,
AAH64945.1,
AAD32702.1,
AAH47476.1,
BAG51949.1
Ensembl_TRS:
ENST00000367763,
ENST00000367762
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000356737,
ENSP00000356736
RefSeq:
XP_006711691.1,
XP_011508451.1,
NP_001307181.1,
NP_001139511.2,
XP_016858296.1,
XP_024306632.1,
NP_689494.3,
XP_011508452.1,
XP_011508453.1
|
| Others |
UniRef100:
UniRef100_A0A024R923,
UniRef100_Q5T7V8
UniRef90:
UniRef90_Q5T7V8,
UniRef90_A0A024R923
UniRef50:
UniRef50_A0A024R923,
UniRef50_Q5T7V8
UniGene:
Hs.183702
|
| {{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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