UBIAD1 - UbiA prenyltransferase domain containing 1 Gene
Also Known as SCCD; TERE1
Species: Homo sapiens
About UBIAD1
This gene has 4 transcripts (splice variants), 197 orthologues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 2.8), ovary (RPKM 2.6) and 25 other tissues.
Summary
This gene encodes a protein thought to be involved in Cholesterol and phospholipid metabolism. Mutations in this gene are associated with Schnyder crystalline corneal dystrophy. [provided by RefSeq, Oct 2008]
UBIAD1 Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001330349.2 | NP_001317278.1 | ubiA prenyltransferase domain-containing protein 1 isoform 2 |
| NM_001330350.2 | NP_001317279.1 | ubiA prenyltransferase domain-containing protein 1 isoform 3 |
| NM_013319.3 | NP_037451.1 | ubiA prenyltransferase domain-containing protein 1 isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables antioxidant activity |
IMP
IMP: Inferred from mutant phenotype
|
23374346 | GOA |
| enables prenyltransferase activity |
EXP
EXP: Inferred from Experiment
|
20953171 | GOA |
| enables prenyltransferase activity |
IDA
IDA: Inferred from direct assay
|
20953171 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
23169578 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in menaquinone biosynthetic process |
IMP
IMP: Inferred from mutant phenotype
|
23169578 | GOA |
| involved in ubiquinone biosynthetic process |
IMP
IMP: Inferred from mutant phenotype
|
23374346 | GOA |
| involved in vitamin K biosynthetic process |
IDA
IDA: Inferred from direct assay
|
20953171 | GOA |
| involved in vitamin K biosynthetic process |
IMP
IMP: Inferred from mutant phenotype
|
23169578 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in Golgi membrane |
IDA
IDA: Inferred from direct assay
|
23374346 | GOA |
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
11314041 | GOA |
| located in endoplasmic reticulum |
IDA
IDA: Inferred from direct assay
|
20953171 | GOA |
| located in membrane |
IDA
IDA: Inferred from direct assay
|
11314041 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
11314041 | GOA |
UBIAD1 Protein Structure
UbiA: UbiA prenyltransferase family (59 - 321)
- 0
- 100
- 200
- 300
- 338 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
ubiA prenyltransferase domain-containing protein 1 |
|
UBIAD1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
UBIAD1 | Q9Y5Z9 | RETREG3 | Homo sapiens | Q86VR2 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | RETREG3 | Homo sapiens | Q86VR2 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | NCAPH2 | Homo sapiens | Q6IBW4-4 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | NCAPH2 | Homo sapiens | Q6IBW4-4 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | MRM3 | Homo sapiens | Q9HC36 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | MRM3 | Homo sapiens | Q9HC36 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | CYB5R3 | Homo sapiens | P00387 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | CYB5R3 | Homo sapiens | P00387 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | TMEFF2 | Homo sapiens | Q9UIK5 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | TMEFF2 | Homo sapiens | Q9UIK5 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | HIBADH | Homo sapiens | P31937 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | HIBADH | Homo sapiens | P31937 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | KCNJ6 | Homo sapiens | P48051 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | KCNJ6 | Homo sapiens | P48051 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | AHNAK2 | Homo sapiens | Q8IVF2-3 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | AHNAK2 | Homo sapiens | Q8IVF2-3 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | FNDC9 | Homo sapiens | Q8TBE3 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | FNDC9 | Homo sapiens | Q8TBE3 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | ASGR2 | Homo sapiens | P07307-3 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | ASGR2 | Homo sapiens | P07307-3 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | GPR152 | Homo sapiens | Q8TDT2 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | GPR152 | Homo sapiens | Q8TDT2 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | CRB3 | Homo sapiens | Q9BUF7-2 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | CRB3 | Homo sapiens | Q9BUF7-2 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | SCN3B | Homo sapiens | Q9NY72 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | SCN3B | Homo sapiens | Q9NY72 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | PIGP | Homo sapiens | P57054 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | PIGP | Homo sapiens | P57054 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | EVI2B | Homo sapiens | P34910-2 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | EVI2B | Homo sapiens | P34910-2 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | CPLX4 | Homo sapiens | Q7Z7G2 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | CPLX4 | Homo sapiens | Q7Z7G2 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | FAM209A | Homo sapiens | Q5JX71 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | FAM209A | Homo sapiens | Q5JX71 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | LHFPL5 | Homo sapiens | Q8TAF8 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | LHFPL5 | Homo sapiens | Q8TAF8 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | EVI2A | Homo sapiens | P22794 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | EVI2A | Homo sapiens | P22794 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | HRAS | Homo sapiens | P01112 | 30518913 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | HRAS | Homo sapiens | P01112 | 30518913 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | HRAS | Homo sapiens | P01112 | 30518913 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | HRAS | Homo sapiens | P01112 | 30518913 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | CD33 | Homo sapiens | P20138 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | CD33 | Homo sapiens | P20138 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | EBP | Homo sapiens | Q15125 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | EBP | Homo sapiens | Q15125 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | FKBP7 | Homo sapiens | Q9Y680 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | FKBP7 | Homo sapiens | Q9Y680 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | FKBP7 | Homo sapiens | Q9Y680 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | SAR1A | Homo sapiens | Q9NR31 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | SAR1A | Homo sapiens | Q9NR31 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | HMGCR | Homo sapiens | P04035 | 33961781 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | HMGCR | Homo sapiens | P04035 | 23169578 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | SLC7A14 | Homo sapiens | Q8TBB6 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | SLC7A14 | Homo sapiens | Q8TBB6 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | SYT1 | Homo sapiens | P21579 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | SYT1 | Homo sapiens | P21579 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | SOAT1 | Homo sapiens | P35610 | 23169578 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | CD53 | Homo sapiens | P19397 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | CD53 | Homo sapiens | P19397 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | CREB3L1 | Homo sapiens | Q96BA8 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | CREB3L1 | Homo sapiens | Q96BA8 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | BIK | Homo sapiens | Q13323 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | BIK | Homo sapiens | Q13323 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | PHACTR3 | Homo sapiens | Q96KR7 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | PHACTR3 | Homo sapiens | Q96KR7 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | TMEM139 | Homo sapiens | Q8IV31 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | TMEM139 | Homo sapiens | Q8IV31 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | MGST3 | Homo sapiens | O14880 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | MGST3 | Homo sapiens | O14880 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | CLDN7 | Homo sapiens | O95471 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | CLDN7 | Homo sapiens | O95471 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | REEP4 | Homo sapiens | Q9H6H4 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | REEP4 | Homo sapiens | Q9H6H4 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | CD79A | Homo sapiens | P11912 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | CD79A | Homo sapiens | P11912 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | ERGIC3 | Homo sapiens | Q9Y282 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | ERGIC3 | Homo sapiens | Q9Y282 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | TMEM14B | Homo sapiens | Q9NUH8 | 32296183 | |
|
Intra
|
UBIAD1 | Q9Y5Z9 | TMEM14B | Homo sapiens | Q9NUH8 | 32296183 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Schnyder Corneal Dystrophy |
|
|
| Corneal Dystrophy |
|
|
| Transitional Cell Carcinoma |
|
|
| Stromal Dystrophy |
|
|
| Stromal Corneal Dystrophy |
|
|
| Corneal Deposit |
|
|
| Corneal Dystrophy, Thiel-Behnke Type |
|
|
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
|
| Macular Dystrophy, Corneal |
|
|
| Corneal Dystrophy, Reis-Bucklers Type |
|
|
| Granular Corneal Dystrophy |
|
|
| Arcus Corneae |
|
|
| Corneal Endothelial Dystrophy |
|
|
| Epithelial And Subepithelial Dystrophy |
|
|
| Corneal Dystrophy, Posterior Polymorphous, 3 |
|
|
| Corneal Dystrophy, Meesmann, 1 |
|
|
| Epithelial Recurrent Erosion Dystrophy |
|
|
| Corneal Degeneration |
|
|
| Corneal Dystrophy, Avellino Type |
|
|
| Corneal Dystrophy, Lisch Epithelial |
|
|
| Corneal Dystrophy, Groenouw Type I |
|
|
| Corneal Dystrophy, Gelatinous Drop-Like |
|
|
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
|
| Vitamin K Deficiency Bleeding |
|
|
| Corneal Disease |
|
|
| Epithelial Basement Membrane Dystrophy |
|
|
| Corneal Dystrophy, Subepithelial Mucinous |
|
|
| Epithelial-Stromal Tgfbi Dystrophy |
|
|
| Fuchs' Endothelial Dystrophy |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | UBIAD1 | VGNC | VGNC:79881 |
| Rattus norvegicus | UBIAD1 | RGD | RGD:1309588 |
| Bos taurus | UBIAD1 | VGNC | VGNC:36606 |
| Mus musculus | UBIAD1 | MGD | MGI:1918957 |
| Canis familiaris | UBIAD1 | VGNC | VGNC:48075 |
| Others | UBIAD1 | NCBI |