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

Gene ID: 29914, updated on 7-Jun-2020

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
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

Genomic context

See UBIAD1 in Genome Data Viewer
Location:
1p36.22
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (11273198..11299572)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (11333255..11348491)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene mechanistic target of rapamycin kinase Neighboring gene RNA, U6 small nuclear 291, pseudogene Neighboring gene ribosomal protein L39 pseudogene 6 Neighboring gene ubiquitin conjugating enzyme E2 V2 pseudogene 3 Neighboring gene uncharacterized LOC105376737 Neighboring gene uncharacterized LOC105376739

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
antioxidant activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
prenyltransferase activity EXP
Inferred from Experiment
more info
PubMed 
prenyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
prenyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cellular oxidant detoxification IEA
Inferred from Electronic Annotation
more info
 
menaquinone biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
menaquinone biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
menaquinone biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
ubiquinone biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
ubiquinone biosynthetic process via 3,4-dihydroxy-5-polyprenylbenzoate IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
vitamin K biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
vitamin K biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
vitamin K biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
vitamin K metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of Golgi membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of Golgi membrane IDA
Inferred from Direct Assay
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial membrane IEA
Inferred from Electronic Annotation
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
ubiA prenyltransferase domain-containing protein 1
Names
transitional epithelia response protein
transitional epithelial response protein 1
NP_001317278.1
NP_001317279.1
NP_037451.1

NCBI Reference Sequences (RefSeq)

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

  1. NG_009443.2 RefSeqGene

    Range
    5001..20237
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001330349.1NP_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:50209
    PT_UbiA_UBIAD1; 1,4-Dihydroxy-2-naphthoate octaprenyltransferase
  2. NM_001330350.1NP_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:50176
    PT_UbiA_UBIAD1; 1,4-Dihydroxy-2-naphthoate octaprenyltransferase
  3. NM_013319.3NP_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
    Q9Y5Z9
    Related
    ENSP00000366006.5, ENST00000376810.5
    Conserved Domains (1) summary
    cd13962
    Location:50326
    PT_UbiA_UBIAD1; 1,4-Dihydroxy-2-naphthoate octaprenyltransferase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    11273198..11299572
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_946616.3 RNA Sequence

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