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    UXS1 UDP-glucuronate decarboxylase 1 [ Homo sapiens (human) ]

    Gene ID: 80146, updated on 5-Sep-2021

    Summary

    Official Symbol
    UXS1provided by HGNC
    Official Full Name
    UDP-glucuronate decarboxylase 1provided by HGNC
    Primary source
    HGNC:HGNC:17729
    See related
    Ensembl:ENSG00000115652 MIM:609749
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    UGD; SDR6E1
    Summary
    This gene encodes an enzyme found in the perinuclear Golgi which catalyzes the synthesis of UDP-xylose used in glycosaminoglycan (GAG) synthesis on proteoglycans. The GAG chains are covalently attached to proteoglycans which participate in signaling pathways during development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]
    Expression
    Ubiquitous expression in kidney (RPKM 16.4), placenta (RPKM 15.1) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See UXS1 in Genome Data Viewer
    Location:
    2q12.2
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (106093303..106194336, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (106709767..106810757, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373531 Neighboring gene ECRG4 augurin precursor Neighboring gene uncharacterized LOC107985930 Neighboring gene Sharpr-MPRA regulatory region 936 Neighboring gene 2q12.2 recombination region Neighboring gene ribosomal protein L22 pseudogene 10 Neighboring gene SRSF3 pseudogene 4

    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

    Clone Names

    • FLJ23591

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables NAD+ binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables NAD+ binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables UDP-glucuronate decarboxylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables UDP-glucuronate decarboxylase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in D-xylose metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in UDP-D-xylose biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Golgi cisterna membrane IEA
    Inferred from Electronic Annotation
    more info
     
    part_of catalytic complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    UDP-glucuronic acid decarboxylase 1
    Names
    UXS-1
    short chain dehydrogenase/reductase family 6E, member 12
    NP_001240804.1
    NP_001240805.1
    NP_001364433.1
    NP_001364434.1
    NP_001364435.1
    NP_001364436.1
    NP_001364437.1
    NP_001364438.1
    NP_079352.2
    XP_011510204.2
    XP_011510205.2
    XP_016860500.1
    XP_016860503.1
    XP_024308925.1

    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.

    mRNA and Protein(s)

    1. NM_001253875.2NP_001240804.1  UDP-glucuronic acid decarboxylase 1 isoform 1

      See identical proteins and their annotated locations for NP_001240804.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest protein (isoform 1).
      Source sequence(s)
      AC018878
      Consensus CDS
      CCDS58721.1
      UniProtKB/Swiss-Prot
      Q8NBZ7
      Related
      ENSP00000283148.7, ENST00000283148.12
      Conserved Domains (3) summary
      cd05230
      Location:94397
      UGD_SDR_e; UDP-glucuronate decarboxylase (UGD) and related proteins, extended (e) SDRs
      COG0451
      Location:94401
      WcaG; Nucleoside-diphosphate-sugar epimerase [Cell wall/membrane/envelope biogenesis]
      pfam11803
      Location:483
      UXS1_N; UDP-glucuronate decarboxylase N-terminal
    2. NM_001253876.2NP_001240805.1  UDP-glucuronic acid decarboxylase 1 isoform 3

      See identical proteins and their annotated locations for NP_001240805.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks several exons in the 5' coding region, and uses a downstream AUG compared to variant 1. The resulting protein (isoform 3) is shorter and has a distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC018878
      Consensus CDS
      CCDS58720.1
      UniProtKB/Swiss-Prot
      Q8NBZ7
      Related
      ENSP00000387096.1, ENST00000409032.5
      Conserved Domains (1) summary
      cl25409
      Location:1224
      SDR; Short-chain dehydrogenases/reductases (SDR)
    3. NM_001377504.1NP_001364433.1  UDP-glucuronic acid decarboxylase 1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC018878
      Conserved Domains (2) summary
      cd05230
      Location:94343
      UGD_SDR_e; UDP-glucuronate decarboxylase (UGD) and related proteins, extended (e) SDRs
      pfam11803
      Location:483
      UXS1_N; UDP-glucuronate decarboxylase N-terminal
    4. NM_001377505.1NP_001364434.1  UDP-glucuronic acid decarboxylase 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC018878
      Conserved Domains (2) summary
      cd05230
      Location:89338
      UGD_SDR_e; UDP-glucuronate decarboxylase (UGD) and related proteins, extended (e) SDRs
      pfam11803
      Location:478
      UXS1_N; UDP-glucuronate decarboxylase N-terminal
    5. NM_001377506.1NP_001364435.1  UDP-glucuronic acid decarboxylase 1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC018878
      Conserved Domains (1) summary
      cd05230
      Location:34337
      UGD_SDR_e; UDP-glucuronate decarboxylase (UGD) and related proteins, extended (e) SDRs
    6. NM_001377507.1NP_001364436.1  UDP-glucuronic acid decarboxylase 1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC018878
      Conserved Domains (2) summary
      cd05230
      Location:94350
      UGD_SDR_e; UDP-glucuronate decarboxylase (UGD) and related proteins, extended (e) SDRs
      pfam11803
      Location:483
      UXS1_N; UDP-glucuronate decarboxylase N-terminal
    7. NM_001377508.1NP_001364437.1  UDP-glucuronic acid decarboxylase 1 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC018878
      Conserved Domains (2) summary
      cd05230
      Location:89345
      UGD_SDR_e; UDP-glucuronate decarboxylase (UGD) and related proteins, extended (e) SDRs
      pfam11803
      Location:478
      UXS1_N; UDP-glucuronate decarboxylase N-terminal
    8. NM_001377509.1NP_001364438.1  UDP-glucuronic acid decarboxylase 1 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC018878
      Conserved Domains (1) summary
      cd05230
      Location:1284
      UGD_SDR_e; UDP-glucuronate decarboxylase (UGD) and related proteins, extended (e) SDRs
    9. NM_025076.5NP_079352.2  UDP-glucuronic acid decarboxylase 1 isoform 2

      See identical proteins and their annotated locations for NP_079352.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
      Source sequence(s)
      AC018878
      Consensus CDS
      CCDS46378.1
      UniProtKB/Swiss-Prot
      Q8NBZ7
      Related
      ENSP00000387019.3, ENST00000409501.7
      Conserved Domains (2) summary
      cd05230
      Location:89392
      UGD_SDR_e; UDP-glucuronate decarboxylase (UGD) and related proteins, extended (e) SDRs
      pfam11803
      Location:478
      UXS1_N; UDP-glucuronate decarboxylase N-terminal

    RNA

    1. NR_045607.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC018878
    2. NR_165308.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC018878

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      106093303..106194336 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017005011.2XP_016860500.1  UDP-glucuronic acid decarboxylase 1 isoform X8

    2. XM_024453157.1XP_024308925.1  UDP-glucuronic acid decarboxylase 1 isoform X10

      Conserved Domains (1) summary
      cl25409
      Location:1224
      SDR; Short-chain dehydrogenases/reductases (SDR)
    3. XM_017005014.2XP_016860503.1  UDP-glucuronic acid decarboxylase 1 isoform X10

      UniProtKB/Swiss-Prot
      Q8NBZ7
      Conserved Domains (1) summary
      cl25409
      Location:1224
      SDR; Short-chain dehydrogenases/reductases (SDR)
    4. XM_011511902.2XP_011510204.2  UDP-glucuronic acid decarboxylase 1 isoform X1

    5. XM_011511903.2XP_011510205.2  UDP-glucuronic acid decarboxylase 1 isoform X2

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