UBIAD1 (UbiA prenyltransferase domain containing 1)

2003-02-01 Affiliation

Identity

HGNC

UBIAD1

LOCATION

1p36.22

LOCUSID

29914

ALIAS

SCCD,TERE1

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 29914
MIM: 611632
HGNC: 30791
Ensembl: ENSG00000120942

Variants:

dbSNP: 29914
ClinVar: 29914
TCGA: ENSG00000120942
COSMIC: UBIAD1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000120942	ENST00000376804	Q9Y5Z9
ENSG00000120942	ENST00000376810	Q9Y5Z9
ENSG00000120942	ENST00000483738	R4GN21
ENSG00000120942	ENST00000486588	R4GNE3

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Metabolism	REACTOME	R-HSA-1430728
Metabolism of vitamins and cofactors	REACTOME	R-HSA-196854
Metabolism of fat-soluble vitamins	REACTOME	R-HSA-6806667
Metabolism of vitamin K	REACTOME	R-HSA-6806664

References

Pubmed ID	Year	Title	Citations
20953171	2010	Identification of UBIAD1 as a novel human menaquinone-4 biosynthetic enzyme.	86
20953171	2010	Identification of UBIAD1 as a novel human menaquinone-4 biosynthetic enzyme.	86
23374346	2013	Ubiad1 is an antioxidant enzyme that regulates eNOS activity by CoQ10 synthesis.	54
17668063	2007	Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.	40
17962451	2007	Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy.	39
23169578	2013	The UBIAD1 prenyltransferase links menaquinone-4 [corrected] synthesis to cholesterol metabolic enzymes.	27
25742604	2015	The prenyltransferase UBIAD1 is the target of geranylgeraniol in degradation of HMG CoA reductase.	24
20505825	2010	UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy.	23
21740188	2011	The bladder tumor suppressor protein TERE1 (UBIAD1) modulates cell cholesterol: implications for tumor progression.	23
18176953	2008	Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function.	19

Citation

Dessen P

UBIAD1 (UbiA prenyltransferase domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/42520/ubiad1