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

    Gene ID: 29914, updated on 20-Feb-2017
    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; Vega:OTTHUMG00000002075
    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]
    Orthologs
    Location:
    1p36.22
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (11273198..11299578)
    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 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of fat-soluble vitamins, organism-specific biosystem (from REACTOME)
      Metabolism of fat-soluble vitamins, organism-specific biosystemVitamins A, D, E, and K are classified as fat-soluble. Metabolic pathways by which dietary precursors of vitamins A (Harrison 2005) and K(Shearer et al. 2012) are converted to active forms, and by wh...
    • Metabolism of vitamin K, organism-specific biosystem (from REACTOME)
      Metabolism of vitamin K, organism-specific biosystemVitamin K is a required co-factor in a single metabolic reaction, the gamma-carboxylation of glutamate residues of proteins catalyzed by GGCX (gamma-carboxyglutamyl carboxylase). Substrates of GGCX i...
    • Metabolism of vitamins and cofactors, organism-specific biosystem (from REACTOME)
      Metabolism of vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, classified according to their solubility, either fat-soluble or water-soluble, that are either not synthesized or synthesized only in limited amount...
    Products Interactant Other Gene Complex Source Pubs Description

    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 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 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
     
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    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 
    Preferred Names
    ubiA prenyltransferase domain-containing protein 1
    Names
    transitional epithelia response protein
    transitional epithelial response protein 1
    NP_037451.1

    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
    3. NM_013319.2NP_037451.1  ubiA prenyltransferase domain-containing protein 1

      See identical proteins and their annotated locations for NP_037451.1

      Status: REVIEWED

      Source sequence(s)
      AA505091, AK074890, AK222808, BC004468, BX507524
      Consensus CDS
      CCDS129.1
      UniProtKB/Swiss-Prot
      Q9Y5Z9
      Related
      ENSP00000366006, OTTHUMP00000002069, ENST00000376810, OTTHUMT00000005773
      Conserved Domains (1) summary
      cd13962
      Location:50326
      PT_UbiA_UBIAD1; 1,4-Dihydroxy-2-naphthoate octaprenyltransferase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      11273198..11299578
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006710590.3XP_006710653.1  ubiA prenyltransferase domain-containing protein 1 isoform X1

      Conserved Domains (1) summary
      cd13962
      Location:50209
      PT_UbiA_UBIAD1; 1,4-Dihydroxy-2-naphthoate octaprenyltransferase
    2. XM_011541304.2XP_011539606.1  ubiA prenyltransferase domain-containing protein 1 isoform X2

      Related
      ENSP00000366000, OTTHUMP00000002070, ENST00000376804, OTTHUMT00000005775
      Conserved Domains (1) summary
      cd13962
      Location:50176
      PT_UbiA_UBIAD1; 1,4-Dihydroxy-2-naphthoate octaprenyltransferase

    RNA

    1. XR_946616.2 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      11321582..11336819
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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