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

    Gene ID: 29914, updated on 11-Apr-2024

    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
    NEW
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    Genomic context

    See UBIAD1 in Genome Data Viewer
    Location:
    1p36.22
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (11273198..11299574)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (10814791..10841185)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (11333255..11359631)

    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 OCT4-NANOG hESC enhancer GRCh37_chr1:11301605-11302164 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:11308472-11309038 Neighboring gene ribosomal protein L39 pseudogene 6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 261 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 165 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 262 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 263 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 166 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 167 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:11349216-11349398 Neighboring gene ubiquitin conjugating enzyme E2 V2 pseudogene 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:11365397-11366222 Neighboring gene uncharacterized LOC105376737 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:11390449-11391426 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:11391427-11392404 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:11393897-11394399 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:11403662-11404162 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 4-hydroxybenzoate decaprenyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    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

    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
    XP_047274683.1
    XP_054192166.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001330349.2NP_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_001330350.2NP_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
      B3KQG3, Q53GX3, Q5THD4, Q9Y5Z9
      Related
      ENSP00000366006.5, ENST00000376810.6
      Conserved Domains (1) summary
      cd13962
      Location:50326
      PT_UbiA_UBIAD1; 1,4-Dihydroxy-2-naphthoate octaprenyltransferase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      11273198..11299574
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418727.1XP_047274683.1  ubiA prenyltransferase domain-containing protein 1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      10814791..10841185
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336191.1XP_054192166.1  ubiA prenyltransferase domain-containing protein 1 isoform X1