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

Gene ID: 80146, updated on 9-Dec-2018

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

Genomic context

See UXS1 in Genome Data Viewer
Location:
2q12.2
Exon count:
19
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (106093303..106194339, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (106709759..106810795, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373531 Neighboring gene chromosome 2 open reading frame 40 Neighboring gene uncharacterized LOC107985930 Neighboring gene serine/arginine-rich splicing factor 3 pseudogene Neighboring gene 2q12.2 recombination region Neighboring gene ribosomal protein L22 pseudogene 10

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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

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
NAD+ binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NAD+ binding IDA
Inferred from Direct Assay
more info
PubMed 
UDP-glucuronate decarboxylase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
UDP-glucuronate decarboxylase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
UDP-D-xylose biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
protein tetramerization IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Golgi cisterna membrane IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular exosome HDA PubMed 
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_079352.2
XP_006712838.1
XP_011510204.2
XP_011510205.2
XP_011510206.1
XP_016860497.1
XP_016860498.1
XP_016860499.1
XP_016860500.1
XP_016860501.1
XP_016860502.1
XP_016860503.1
XP_024308925.1

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.

mRNA and Protein(s)

  1. NM_001253875.1NP_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, AI217133, AK075170, DB379311
    Consensus CDS
    CCDS58721.1
    UniProtKB/Swiss-Prot
    Q8NBZ7
    Related
    ENSP00000283148.7, ENST00000283148.11
    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_001253876.1NP_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, AI217133, AK027244, DB379311
    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_025076.4NP_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, AI217133, AY358541, BI825770, DB379311
    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_045607.1 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, AI217133, AK122696, DB379311

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    106093303..106194339 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_017005008.1XP_016860497.1  UDP-glucuronic acid decarboxylase 1 isoform X3

  3. XM_017005012.2XP_016860501.1  UDP-glucuronic acid decarboxylase 1 isoform X8

  4. XM_011511904.3XP_011510206.1  UDP-glucuronic acid decarboxylase 1 isoform X5

    Conserved Domains (2) summary
    cd05230
    Location:34337
    UGD_SDR_e; UDP-glucuronate decarboxylase (UGD) and related proteins, extended (e) SDRs
    COG0451
    Location:34341
    WcaG; Nucleoside-diphosphate-sugar epimerase [Cell wall/membrane/envelope biogenesis]
  5. XM_017005013.2XP_016860502.1  UDP-glucuronic acid decarboxylase 1 isoform X9

  6. 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)
  7. XM_006712775.4XP_006712838.1  UDP-glucuronic acid decarboxylase 1 isoform X6

    Conserved Domains (3) summary
    cd05230
    Location:94350
    UGD_SDR_e; UDP-glucuronate decarboxylase (UGD) and related proteins, extended (e) SDRs
    pfam01370
    Location:96329
    Epimerase; NAD dependent epimerase/dehydratase family
    pfam11803
    Location:483
    UXS1_N; UDP-glucuronate decarboxylase N-terminal
  8. 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)
  9. XM_017005009.1XP_016860498.1  UDP-glucuronic acid decarboxylase 1 isoform X4

  10. XM_017005010.1XP_016860499.1  UDP-glucuronic acid decarboxylase 1 isoform X7

  11. XM_011511902.2XP_011510204.2  UDP-glucuronic acid decarboxylase 1 isoform X1

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

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