| Type | Description |
|---|---|
| Definition | UbiA prenyltransferase domain containing 1 |
| Date | Results | Publications |
|---|---|---|
| 2019-12-21 12:02:00 | Results demonstrate that schnyder corneal dystrophy (SCD)-associated mutations of UBIAD1 impair its ER-to-Golgi transportation and enhance its interaction with HMGCR. The stabilization of HMGCR by UBIAD1 increases cholesterol biosynthesis and eventually causes cholesterol accumulation in the cornea. | 31323021 |
| 2019-11-30 10:24:00 | UBIAD1 suppresses the proliferation of bladder carcinoma cells by regulating H-Ras intracellular trafficking via interaction with the C-terminal domain of H-Ras. | 30518913 |
| 2019-04-13 11:26:00 | Genetic analysis of our family revealed a mutation of the UBIAD1 gene not described in the literature for Schnyder Dystrophy. | 30446344 |
| 2018-11-03 11:03:00 | The novel p.Thr120Arg is the fourth Schnyder corneal dystrophy-causing variant lying within the FARM motif of the UBIAD1 protein, which underlines a high importance of this motif for SCD pathogenesis. | 30084067 |
| 2018-09-29 10:40:00 | Although de novo occurrence of mutations in UBIAD1 is extremely rare, SCD should be considered in the differential diagnosis of bilateral corneal haze and/or crystal deposition, especially in children | 30223810 |
| Type | IDs |
|---|---|
| Synonymous | SCCD, TERE1 |
| Gene |
UniProtKB-ID:
UBIA1_HUMAN
UniprotKB:
Q9Y5Z9
UniParc:
UPI0000205F61,
UPI0000073E35
EMBL:
BC004468,
AL031291,
AF117064,
AK074890,
CH471130,
BT006832,
AK222808
Ensembl:
ENSG00000120942
KO:
hsa:29914
|
| Nucleutide sequences |
EMBL-CDS:
BAD96528.1,
BAG52025.1,
AAP35478.1,
AAD27581.1,
AAH04468.1,
EAW71686.1
Ensembl_TRS:
ENST00000376804,
ENST00000376810
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000366006,
ENSP00000366000
RefSeq:
NP_001317279.1,
NP_001317278.1,
NP_037451.1
|
| Others |
UniRef100:
UniRef100_Q9Y5Z9
UniRef90:
UniRef90_Q9Y5Z9
UniRef50:
UniRef50_Q9Y5Z9
UniGene:
Hs.522933
CCDS:
CCDS81260.1,
CCDS129.1
|
| {{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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