UBIAD1 UbiA prenyltransferase domain containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: UBIAD1provided by HGNC
Official Full Name: UbiA prenyltransferase domain containing 1provided by HGNC
Primary source: HGNC:HGNC:30791
See related: Ensembl:ENSG00000120942 MIM:611632; AllianceGenome:HGNC:30791
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SCCD; TERE1
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]
Expression: Ubiquitous expression in testis (RPKM 2.8), ovary (RPKM 2.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.22

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (11273198..11299574)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (10814791..10841185)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (11333255..11359631)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

UBIAD1 and CoQ10 protect melanoma cells from lipid peroxidation-mediated cell death.
Title: UBIAD1 and CoQ10 protect melanoma cells from lipid peroxidation-mediated cell death.
Functional study of SCCD pathogenic gene UBIAD1 (Review).
Title: Functional study of SCCD pathogenic gene UBIAD1 (Review).
Schnyder corneal dystrophy-associated UBIAD1 is defective in MK-4 synthesis and resists autophagy-mediated degradation.
Title: Schnyder corneal dystrophy-associated UBIAD1 is defective in MK-4 synthesis and resists autophagy-mediated degradation.
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.
Title: Schnyder corneal dystrophy-associated UBIAD1 mutations cause corneal cholesterol accumulation by stabilizing HMG-CoA reductase.
UBIAD1 suppresses the proliferation of bladder carcinoma cells by regulating H-Ras intracellular trafficking via interaction with the C-terminal domain of H-Ras.
Title: UBIAD1 suppresses the proliferation of bladder carcinoma cells by regulating H-Ras intracellular trafficking via interaction with the C-terminal domain of H-Ras.
Genetic analysis of our family revealed a mutation of the UBIAD1 gene not described in the literature for Schnyder Dystrophy.
Title: Clinical and para-clinical description of a novel mutation for Schnyder dystrophy in a French family.
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.
Title: Clinical diversity in patients with Schnyder corneal dystrophy-a novel and known UBIAD1 pathogenic variants.
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
Title: Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene.
Silencing UBIAD1 further aggravates the deleterious effects rendered by Ang II, indicating that a normal or increased level of UBIAD1 may offer protection against the Ang IIinduced hypertrophic response and apoptosis.
Title: Depletion of ubiA prenyltransferase domain containing 1 expression promotes angiotensin II‑induced hypertrophic response in AC16 human myocardial cells via modulating the expression levels of coenzyme Q10 and endothelial nitric oxide synthase.
these findings disclose a novel sensing mechanism that allows for stringent metabolic control of intracellular trafficking of UBIAD1, which directly modulates reductase degradation and becomes disrupted in Schnyder corneal dystrophy (SCD).
Title: Geranylgeranyl-regulated transport of the prenyltransferase UBIAD1 between membranes of the ER and Golgi.

Submit: New GeneRIF Correction See all GeneRIFs (36)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Schnyder crystalline corneal dystrophy MedGen: C0271287 OMIM: 121800 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

TERE1_9605 (e-PCR)
- UniSTS:468741

D1S2663 (e-PCR), detects polymorphism
- UniSTS:19219

D1S228 (e-PCR), detects polymorphism
- UniSTS:3378

D1S214 (e-PCR)
- UniSTS:32306

SHGC-74218 (e-PCR)
- UniSTS:70057

D1S489 (e-PCR), detects polymorphism
- UniSTS:13238

SHGC-74208 (e-PCR)
- UniSTS:56057

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables antioxidant activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables prenyltransferase activity	EXP Inferred from Experiment more info	PubMed
enables prenyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables prenyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular oxidant detoxification	IEA Inferred from Electronic Annotation more info
involved_in menaquinone biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in menaquinone biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in menaquinone biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ubiquinone biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ubiquinone biosynthetic process via 3,4-dihydroxy-5-polyprenylbenzoate	IBA Inferred from Biological aspect of Ancestor more info
involved_in vitamin K biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in vitamin K biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in vitamin K biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vitamin K metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
is_active_in Golgi membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial membrane	IEA Inferred from Electronic Annotation more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ubiA prenyltransferase domain-containing protein 1

Names: transitional epithelia response protein; transitional epithelial response protein 1

NP_001317278.1

EC 2.5.1.39

NP_001317279.1

EC 2.5.1.39

NP_037451.1

EC 2.5.1.39

XP_047274683.1

EC 2.5.1.39

XP_054192166.1

EC 2.5.1.39

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_009443.2 RefSeqGene

Range

5001..20237

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001330349.2 → NP_001317278.1 ubiA prenyltransferase domain-containing protein 1 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AL031291

Conserved Domains (1) summary

cd13962
Location:50 → 209

PT_UbiA_UBIAD1; 1,4-Dihydroxy-2-naphthoate octaprenyltransferase
NM_001330350.2 → NP_001317279.1 ubiA prenyltransferase domain-containing protein 1 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AL031291

Consensus CDS

CCDS81260.1

UniProtKB/Swiss-Prot

Q9Y5Z9

Related

ENSP00000366000.1, ENST00000376804.2

Conserved Domains (1) summary

cd13962
Location:50 → 176

PT_UbiA_UBIAD1; 1,4-Dihydroxy-2-naphthoate octaprenyltransferase
NM_013319.3 → NP_037451.1 ubiA prenyltransferase domain-containing protein 1 isoform 1

See identical proteins and their annotated locations for NP_037451.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AA505091, AK074890, AK222808, BC004468, BX507524

Consensus CDS

CCDS129.1

UniProtKB/Swiss-Prot

B3KQG3, Q53GX3, Q5THD4, Q9Y5Z9

Related

ENSP00000366006.5, ENST00000376810.6

Conserved Domains (1) summary

cd13962
Location:50 → 326

PT_UbiA_UBIAD1; 1,4-Dihydroxy-2-naphthoate octaprenyltransferase