UBIAD1 - UbiA prenyltransferase domain containing 1 Gene

Homo sapiens

Also known as SCCD; TERE1

Gene ID: 29914 | Gene type: protein coding

About UBIAD1

Cytogenetic location: 1p36.22 Genomic coordinates (GRCh38): 1:11,273,198-11,299,574 (from NCBI)

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	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	Reference	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	Reference	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

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

UBIAD1 Protein Structure

UbiA

0
100
200
300
338 a.a.

Protein Preferred Names

Protein Names

ubiA prenyltransferase domain-containing protein 1

transitional epithelia response protein

Related Diseases

Diseases

Alias

Schnyder Corneal Dystrophy

Schnyder Crystalline Corneal Dystrophy	SCCD
Corneal Dystrophy, Crystalline, Of Schnyder	Corneal Dystrophy, Schnyder Type
Corneal Dystrophy Crystalline Of Schnyder	Crystalline Stromal Dystrophy
Hereditary Crystalline Stromal Dystrophy Of Schnyder	Scd
Corneal Dystrophy, Schnyder	Schnyder Crystalline Dystrophy Sine Crystals
Dystrophy, Corneal, Crystalline, Schnyder

Corneal Dystrophy

Transitional Cell Carcinoma

Transitional Cell Neoplasm	Carcinoma, Transitional Cell
Transitional Carcinoma	Transitional Cell Tumor
Urothelial Cell Carcinoma	Carcinoma Transitional Cell
Transitional Cell Carcinoma Of Bladder

Stromal Dystrophy

Stromal Corneal Dystrophy

Stromal Dystrophies Corneal

Corneal Deposit

Deposits - Cornea

Corneal Dystrophy, Thiel-Behnke Type

Thiel-Behnke Corneal Dystrophy	Tbcd
CDTB	Cdb2
Corneal Dystrophy Of Bowman Layer Type Ii	Anterior Limiting Membrane Dystrophy Type Ii
Waardenburg-Jonker Corneal Dystrophy	Corneal Dystrophy Of Bowman Layer, Type Ii
Corneal Dystrophy, Honeycomb-Shaped	Corneal Dystrophy Honeycomb-Shaped
Corneal Dystrophy Thiel Behnke Type	Corneal Dystrophy Honeycomb Shaped
Corneal Dystrophy Of The Bowman Layer Type 2	Thiel Behnke Corneal Dystrophy
Anterior Limiting Membrane Dystrophy Type 2	Corneal Dystrophy Of Bowman Layer Type 2
Curly Fiber Corneal Dystrophy	Honeycomb Corneal Dystrophy
Honeycomb-Shaped Corneal Dystrophy	Dystrophy, Corneal, Thiel-Behnke Type

Corneal Dystrophy, Posterior Polymorphous, 1

Posterior Polymorphous Corneal Dystrophy	Ppcd
Maumenee Corneal Dystrophy	Posterior Polymorphous Corneal Dystrophy 1
PPCD1	Corneal Dystrophy, Hereditary Polymorphous Posterior
Corneal Endothelial Dystrophy 1, Autosomal Dominant	Schlichting Dystrophy
Ched1	Corneal Endothelial Dystrophy 1, Autosomal Dominant, Formerly
Ched1, Formerly	Hereditary Polymorphus Posterior Corneal Dystrophy
Posterior Polymorphous Dystrophy	Hereditary Polymorphous Posterior Corneal Dystrophy
Dystrophy, Corneal, Posterior Polymorphous	Dystrophy, Corneal, Posterior Polymorphous, Type 1
Polymorphous Corneal Dystrophy	Corneal Endothelial Dystrophy 2

Macular Dystrophy, Corneal

Macular Corneal Dystrophy	MCD
Corneal Dystrophy, Macular Type	Groenouw Type Ii Corneal Dystrophy
Fehr Corneal Dystrophy	Macular Dystrophy, Corneal Type 1
Mcdc1	Macular Corneal Dystrophy Type Ii
Macular Corneal Dystrophy, Type Ii	Macular Corneal Dystrophy, Type I
Mcdc1, Formerly	Macular Dystrophy, Corneal, 1
Macular Corneal Dystrophy Type 1	Corneal Dystrophy Groenouw Type Ii
Corneal Dystrophy Macular Type	Macular Corneal Dystrophy Type I
Dystrophy, Macular, Corneal

Corneal Dystrophy, Reis-Bucklers Type

Reis-Bucklers Corneal Dystrophy	Rbcd
CDRB	Cdb1
Corneal Dystrophy Of Bowman Layer Type I	Geographic Corneal Dystrophy
Granular Corneal Dystrophy Type Iii	Reis-Bucklers' Corneal Dystrophy
Anterior Limiting Membrane Dystrophy Type I	Corneal Dystrophy Of Bowman Layer Type 1
Corneal Dystrophy Of Bowman Layer, Type I	Corneal Dystrophy, Geographic
Granular Corneal Dystrophy, Type Iii	Corneal Dystrophy Reis Bucklers Type
Corneal Dystrophy Geographic	Reis Bucklers Corneal Dystrophy
Reis Bucklers Dystrophy	Anterior Limiting Membrane Dystrophy Type 1
Atypical Granular Corneal Dystrophy	Granular Corneal Dystrophy Type 3
Superficial Granular Corneal Dystrophy	Corneal Dystrophy Of Bowman Layer, Type 1
Dystrophy, Corneal, Reis-Bucklers Type

Granular Corneal Dystrophy

Granular Dystrophy Corneal	Corneal Dystrophies, Hereditary
Hereditary Corneal Dystrophy	Corneal Dystrophy Nos
Familial Hereditary Corneal Degeneration	Hereditary Corneal Opacity

Arcus Corneae

Arcus Senilis	Corneal Arcus
Arcus Of Cornea

Corneal Endothelial Dystrophy

Congenital Hereditary Endothelial Dystrophy Of Cornea	Chandler Syndrome
CHED	Chandler'S Syndrome
Endothelial Corneal Dystrophy	Ched2
Maumenee Corneal Dystrophy	Corneal Dystrophy, Congenital Hereditary Endothelial
Dystrophy Of Corneal Endothelium	Corneal Endothelial Dystrophy 2
Corneal Endothelial Dystrophy 2, Autosomal Recessive, Formerly	Ched2, Formerly
Corneal Endothelial Dystrophy, Autosomal Recessive	Endothelial Dystrophy
Posterior Membrane Corneal Dystrophy	Corneal Endothelial Dystrophy Type 2
Congenital Hereditary Endothelial Dystrophy Of The Cornea	Congenital Hereditary Endothelial Dystrophy Type Ii
Autosomal Recessive Ched	Autosomal Recessive Congenital Hereditary Endothelial Dystrophy
Chedii	Congenital Hereditary Endothelial Dystrophy Type 2
Infantile Hereditary Endothelial Dystrophy	Congenital Hereditary Endothelial Corneal Dystrophy
Corneal Endothelial Dystrophy 2, Autosomal Recessive	Iridocorneal Endothelial Syndrome
Dystrophy, Corneal, Endothelial	Corneal Endothelial Dystrophy 1, Autosomal Dominant

Epithelial And Subepithelial Dystrophy

Corneal Dystrophy, Posterior Polymorphous, 3

Posterior Polymorphous Corneal Dystrophy 3	PPCD3
Dystrophy, Corneal, Posterior Polymorphous, Type 3

Corneal Dystrophy, Meesmann, 1

Meesmann Corneal Dystrophy	Mecd
Corneal Dystrophy, Meesmann Epithelial	Juvenile Hereditary Epithelial Dystrophy
Corneal Dystrophy, Juvenile Epithelial Of Meesmann	MECD1
Meesmann Corneal Dystrophy 1	Meesmann Corneal Epithelial Dystrophy
Meesmann Epithelial Corneal Dystrophy	Corneal Dystrophy, Juvenile Epithelial, Of Meesmann
Stocker-Holt Dystrophy	Meesman Dystrophy
Meesman'S Corneal Dystrophy	Juvenile Hereditary Epithelial Dystrophy Of Meesmann
Corneal Dystrophy, Meesmann 1	Juvenile Epithelial Corneal Dystrophy Of Meesmann
Mcd	Dystrophy, Corneal, Meesmann

Epithelial Recurrent Erosion Dystrophy

ERED	Corneal Erosions, Recurring Hereditary
Col17a1	Dystrophia Helsinglandica
Dystrophia Smolandiensis	Recurrent Hereditary Corneal Erosions
Rces	Recurrent Corneal Erosion Syndrome
Recurrent Erosion Of Cornea

Corneal Degeneration

Degenerative Corneal Opacity

Corneal Dystrophy, Avellino Type

Avellino Corneal Dystrophy	CDA
Combined Granular-Lattice Corneal Dystrophy	Cgd2
Granular Corneal Dystrophy Type 2	Acd
Granular Corneal Dystrophy 2	Corneal Dystrophy Avellino Type
Granular Corneal Dystrophy Type Ii	Granular Corneal Dystrophy, Type Ii
Combined Granular-Lattice Corneal Dystrophies	Granular And Lattice Corneal Dystrophies
Granular-Lattice Corneal Dystrophy	Gcd2
Gcdii	Granular-Lattice Corneal Dystrophy

Corneal Dystrophy, Lisch Epithelial

Lisch Epithelial Corneal Dystrophy	LECD
Band-Shaped And Whorled Microcystic Corneal Epithelial Dystrophy	Band-Shaped And Whorled Microcystic
Band-Shaped And Whorled Microcystic Dystrophy Of The Corneal Epithelium

Corneal Dystrophy, Groenouw Type I

CDGG1	Gcd1
Groenouw Corneal Dystrophy Type I	Granular Corneal Dystrophy 1
Granular Corneal Dystrophy Type I	Corneal Dystrophy Groenouw Type I
Granular Corneal Dystrophy, Type I	Corneal Dystrophy, Punctate Or Nodular
Groenouw Type I Corneal Dystrophy	Corneal Dystrophy Granular Type
Corneal Dystrophy Punctate Or Nodular	Classic Gcd
Classic Granular Corneal Dystrophy	Gcdi
Granular Corneal Dystrophy Type 1	Corneal Dystrophy, Groenouw Type 1
Mesh	D003317
Punctate Or Nodular Corneal Dystrophy	Dystrophy, Corneal, Groenouw Type I

Corneal Dystrophy, Gelatinous Drop-Like

Gelatinous Drop-Like Corneal Dystrophy	GDLD
Cdgdl	Corneal Amyloidosis
Lattice Corneal Dystrophy Type Iii	Amyloidosis, Corneal
Amyloid Corneal Dystrophy, Japanese Type	Gdcd
Primary Familial Amyloidosis Of The Cornea	Subepithelial Amyloidosis Of The Cornea
Corneal Dystrophy, Lattice Type 3	Corneal Dystrophy, Lattice Type Iii
Lattice Corneal Dystrophy, Type Iii	Amyloidosis Corneal
Lattice Corneal Dystrophy Type3	Amyloid Corneal Dystrophy Japanese Type
Dystrophy, Corneal, Gelatinous Drop-Like	Amyloid Of Cornea

Lecithin:Cholesterol Acyltransferase Deficiency

Norum Disease	Lcat Deficiency
Familial Lcat Deficiency	Fld
Lecithin Acyltransferase Deficiency	Complete Lcat Deficiency
Lecithin Cholesterol Acyltransferase Deficiency	Lecithin-Cholesterol Acyltransferase Deficiency
Familial Lecithin-Cholesterol Acyltransferase Deficiency	Norum'S Disease
LCATD	Deficiency, Lecithin:Cholesterol Acyltransferase

Vitamin K Deficiency Bleeding

Vitamin K Deficiency	Deficiency Of Vitamin K
Vitamin K	Vitamin K Deficiency Hemorrhagic Disease

Corneal Disease

Corneal Diseases

Corneal Disorders

Epithelial Basement Membrane Dystrophy

Ebmd	Corneal Dystrophy, Epithelial Basement Membrane
Cogan Corneal Dystrophy	Microcystic Corneal Dystrophy
Anterior Basement Membrane Dystrophy	Cogan Microcystic Epithelial Dystrophy
Map-Dot-Fingerprint Dystrophy	Microscopic Cystic Corneal Dystrophy

Corneal Dystrophy, Subepithelial Mucinous

Subepithelial Mucinous Corneal Dystrophy

SMCD

Epithelial-Stromal Tgfbi Dystrophy

Fuchs' Endothelial Dystrophy

Fuchs Endothelial Corneal Dystrophy	Fuchs Endothelial Dystrophy
Fuchs Dystrophy	Fced
Fuchs' Corneal Dystrophy	Fuchs' Endothelial Corneal Dystrophy
Fuchs Atrophy	Fuchs Corneal Dystrophy
Endoepithelial Corneal Dystrophy	Fecd
Late Hereditary Endothelial Dystrophy	Corneal Dystrophy, Fuchs Endothelial
Dystrophy, Corneal, Fuchs Endothelial	Corneal Dystrophy, Fuchs' Endothelial, 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15373	UBIAD1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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