Gene/Proteome Database (LMPD)
LMPD ID
LMP005363
Gene ID
Species
Homo sapiens (Human)
Gene Name
UbiA prenyltransferase domain containing 1
Gene Symbol
Synonyms
SCCD; TERE1
Alternate Names
ubiA prenyltransferase domain-containing protein 1; transitional epithelia response protein; transitional epithelial response protein 1
Chromosome
1
Map Location
1p36.22
EC Number
2.5.1.-
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]
Orthologs
Proteins
| ubiA prenyltransferase domain-containing protein 1 | |
|---|---|
| Refseq ID | NP_037451 |
| Protein GI | 7019551 |
| UniProt ID | Q9Y5Z9 |
| mRNA ID | NM_013319 |
| Length | 338 |
| RefSeq Status | REVIEWED |
| MAASQVLGEKINILSGETVKAGDRDPLGNDCPEQDRLPQRSWRQKCASYVLALRPWSFSASLTPVALGSALAYRSHGVLDPRLLVGCAVAVLAVHGAGNLVNTYYDFSKGIDHKKSDDRTLVDRILEPQDVVRFGVFLYTLGCVCAACLYYLSPLKLEHLALIYFGGLSGSFLYTGGIGFKYVALGDLIILITFGPLAVMFAYAIQVGSLAIFPLVYAIPLALSTEAILHSNNTRDMESDREAGIVTLAILIGPTFSYILYNTLLFLPYLVFSILATHCTISLALPLLTIPMAFSLERQFRSQAFNKLPQRTAKLNLLLGLFYVFGIILAPAGSLPKI | |
Gene Information
Entrez Gene ID
Gene Name
UbiA prenyltransferase domain containing 1
Gene Symbol
Species
Homo sapiens
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0005737 | IDA:UniProtKB | C | cytoplasm |
| GO:0005783 | IDA:UniProtKB | C | endoplasmic reticulum |
| GO:0030173 | IDA:UniProtKB | C | integral component of Golgi membrane |
| GO:0016020 | IDA:UniProtKB | C | membrane |
| GO:0005739 | IEA:UniProtKB-KW | C | mitochondrion |
| GO:0005634 | IDA:UniProtKB | C | nucleus |
| GO:0016209 | IMP:UniProtKB | F | antioxidant activity |
| GO:0004659 | IDA:UniProtKB | F | prenyltransferase activity |
| GO:0009234 | IMP:UniProtKB | P | menaquinone biosynthetic process |
| GO:0006744 | IMP:UniProtKB | P | ubiquinone biosynthetic process |
| GO:0042371 | IDA:UniProtKB | P | vitamin K biosynthetic process |
Domain Information
UniProt Annotations
Entry Information
Gene Name
UbiA prenyltransferase domain containing 1
Protein Entry
UBIA1_HUMAN
UniProt ID
Species
Human
Comments
| Comment Type | Description |
|---|---|
| Alternative Products | Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9Y5Z9-1; Sequence=Displayed; Name=2; IsoId=Q9Y5Z9-2; Sequence=VSP_019455, VSP_019456; Note=No experimental confirmation available.; |
| Disease | Corneal dystrophy, Schnyder type (SCCD) [MIM |
| Function | Prenyltransferase that mediates the formation of menaquinone-4 (MK-4) and coenzyme Q10. MK-4 is a vitamin K2 isoform present at high concentrations in the brain, kidney and pancreas, and is required for endothelial cell development. Mediates the conversion of phylloquinone (PK) into MK-4, probably by cleaving the side chain of phylloquinone (PK) to release 2- methyl-1,4-naphthoquinone (menadione; K3) and then prenylating it with geranylgeranyl pyrophosphate (GGPP) to form MK-4. Also plays a role in cardiovascular development independently of MK-4 biosynthesis, by acting as a coenzyme Q10 biosyntetic enzyme: coenzyme Q10, also named ubiquinone, plays a important antioxidant role in the cardiovascular system. Mediates biosynthesis of coenzyme Q10 in the Golgi membrane, leading to protect cardiovascular tissues from NOS3/eNOS-dependent oxidative stress. |
| Interaction | P04035:HMGCR; NbExp=5; IntAct=EBI-6621921, EBI-465513; P35610:SOAT1; NbExp=2; IntAct=EBI-2819725, EBI-6621955; P35610-1:SOAT1; NbExp=3; IntAct=EBI-2819725, EBI-6621997; |
| Miscellaneous | Strongly down-regulated in transitional cell carcinoma of the bladder and in prostate carcinoma (at protein level) (PubMed:11314041, PubMed:12497587). |
| Pathway | Cofactor biosynthesis; ubiquinone biosynthesis. |
| Pathway | Quinol/quinone metabolism; menaquinone biosynthesis. |
| Similarity | Belongs to the UbiA prenyltransferase family. |
| Subcellular Location | Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. Mitochondrion membrane. Cytoplasm. Nucleus. |
| Subunit | Interacts with HMGCR and SOAT1. |
| Tissue Specificity | Ubiquitously expressed. |
Identical and Related Proteins
Unique RefSeq proteins for LMP005363 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 7019551 | RefSeq | NP_037451 | 338 | ubiA prenyltransferase domain-containing protein 1 |
Identical Sequences to LMP005363 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:7019551 | DBBJ | BAG52025.1 | 338 | unnamed protein product [Homo sapiens] |
| GI:7019551 | GenBank | ADF25070.1 | 338 | Sequence 288 from patent US 7691599 |
| GI:7019551 | GenBank | AGC99284.1 | 338 | Sequence 18 from patent US 8334369 |
| GI:7019551 | GenBank | AHD78270.1 | 338 | Sequence 25607 from patent US 8586006 |
| GI:7019551 | GenBank | AIC51293.1 | 338 | UBIAD1, partial [synthetic construct] |
| GI:7019551 | RefSeq | XP_004024691.1 | 338 | PREDICTED: ubiA prenyltransferase domain-containing protein 1 [Gorilla gorilla gorilla] |
Related Sequences to LMP005363 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:7019551 | DBBJ | BAD96528.1 | 338 | transitional epithelia response protein variant, partial [Homo sapiens] |
| GI:7019551 | GenBank | AAP36192.1 | 339 | Homo sapiens transitional epithelia response protein, partial [synthetic construct] |
| GI:7019551 | GenBank | AAX29103.1 | 339 | transitional epithelia response protein, partial [synthetic construct] |
| GI:7019551 | GenBank | AGC99285.1 | 338 | Sequence 24 from patent US 8334369 |
| GI:7019551 | RefSeq | XP_001137312.1 | 338 | PREDICTED: ubiA prenyltransferase domain-containing protein 1 [Pan troglodytes] |
| GI:7019551 | RefSeq | XP_003822130.1 | 338 | PREDICTED: ubiA prenyltransferase domain-containing protein 1 [Pan paniscus] |