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    UAP1L1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 [ Homo sapiens (human) ]

    Gene ID: 91373, updated on 2-Nov-2024

    Summary

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    Official Symbol
    UAP1L1provided by HGNC
    Official Full Name
    UDP-N-acetylglucosamine pyrophosphorylase 1 like 1provided by HGNC
    Primary source
    HGNC:HGNC:28082
    See related
    Ensembl:ENSG00000197355 AllianceGenome:HGNC:28082
    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
    Summary
    Predicted to enable UDP-N-acetylglucosamine diphosphorylase activity. Predicted to be involved in UDP-N-acetylglucosamine biosynthetic process. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in spleen (RPKM 6.4), thyroid (RPKM 5.1) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See UAP1L1 in Genome Data Viewer
    Location:
    9q34.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (137077517..137084538)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (149313363..149320433)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (139971969..139978990)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376327 Neighboring gene ectonucleoside triphosphate diphosphohydrolase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20568 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20569 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139958261-139959038 Neighboring gene suppressor APC domain containing 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139962228-139963208 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20571 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20572 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20573 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139965171-139966150 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139968734-139969347 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20574 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20575 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20576 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20577 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139972693-139973571 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:139977971-139978205 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20578 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29343 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20579 Neighboring gene MAN1B1 divergent transcript Neighboring gene mannosidase alpha class 1B member 1 Neighboring gene small nucleolar RNA SNORD62

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Silencing of UAP1L1 inhibits proliferation and induces apoptosis in esophageal squamous cell carcinoma. Xiao X, et al. Mol Carcinog, 2021 Mar. PMID 33434300
    2. Identification of UAP1L1 as a critical factor for protein O-GlcNAcylation and cell proliferation in human hepatoma cells. Lai CY, et al. Oncogene, 2019 Jan. PMID 30097606
    3. Identification of UAP1L1 as tumor promotor in gastric cancer through regulation of CDK6. Qi J, et al. Aging (Albany NY), 2020 Apr 20. PMID 32310823, Free PMC Article
    4. Combinatorial CRISPR screen identifies fitness effects of gene paralogues. Thompson NA, et al. Nat Commun, 2021 Feb 26. PMID 33637726, Free PMC Article
    5. Identification of motif-based interactions between SARS-CoV-2 protein domains and human peptide ligands pinpoint antiviral targets. Mihalič F, et al. Nat Commun, 2023 Sep 13. PMID 37704626, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Silencing of UAP1L1 inhibits proliferation and induces apoptosis in esophageal squamous cell carcinoma.
      Title: Silencing of UAP1L1 inhibits proliferation and induces apoptosis in esophageal squamous cell carcinoma.
    2. Identification of UAP1L1 as tumor promotor in gastric cancer through regulation of CDK6.
      Title: Identification of UAP1L1 as tumor promotor in gastric cancer through regulation of CDK6.
    3. UAP1L1 is upregulated in a distinct subset of HCC tissues. Patients with upregulated expression of UAP1L1 have a poor prognosis. UAP1L1 overexpression promoted, and UAP1L1 knockdown reduced the proliferation of human hepatoma cells both in vitro and in vivo. UAP1L1 directly interacts with OGT but is not a substrate and cannot activate it alone.UAP1L1 knockdown attenuated c-MYC O-GlcNAcylation and protein stability.
      Title: Identification of UAP1L1 as a critical factor for protein O-GlcNAcylation and cell proliferation in human hepatoma cells.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables UDP-N-acetylglucosamine diphosphorylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in UDP-N-acetylglucosamine biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    UDP-N-acetylhexosamine pyrophosphorylase-like protein 1
    Names
    UDP-N-acteylglucosamine pyrophosphorylase 1-like 1
    NP_997192.2
    XP_006717380.1
    XP_011517484.1
    XP_047280022.1
    XP_054220129.1
    XP_054220130.1
    XP_054220131.1

    NCBI Reference Sequences (RefSeq)

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    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_207309.3 → NP_997192.2  UDP-N-acetylhexosamine pyrophosphorylase-like protein 1

      See identical proteins and their annotated locations for NP_997192.2

      Status: VALIDATED

      Source sequence(s)
      AL807752, BC106035, BX333979, CR979381
      Consensus CDS
      CCDS7028.2
      UniProtKB/Swiss-Prot
      A2AMJ8, Q3KQV9, Q5SPZ2, Q69YQ3, Q6ZR38
      Related
      ENSP00000386935.3, ENST00000409858.8
      Conserved Domains (1) summary
      cd04193
      Location:92 → 413
      UDPGlcNAc_PPase; UDPGlcNAc pyrophosphorylase catalayzes the synthesis of UDPGlcNAc

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      137077517..137084538
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047424066.1 → XP_047280022.1  UDP-N-acetylhexosamine pyrophosphorylase-like protein 1 isoform X1

    2. XM_006717317.4 → XP_006717380.1  UDP-N-acetylhexosamine pyrophosphorylase-like protein 1 isoform X2

      Conserved Domains (1) summary
      cd04193
      Location:92 → 413
      UDPGlcNAc_PPase; UDPGlcNAc pyrophosphorylase catalayzes the synthesis of UDPGlcNAc

    3. XM_011519182.3 → XP_011517484.1  UDP-N-acetylhexosamine pyrophosphorylase-like protein 1 isoform X3

      UniProtKB/TrEMBL
      B7ZKJ7
      Conserved Domains (1) summary
      cd04193
      Location:1 → 246
      UDPGlcNAc_PPase; UDPGlcNAc pyrophosphorylase catalayzes the synthesis of UDPGlcNAc

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      149313363..149320433
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054364154.1 → XP_054220129.1  UDP-N-acetylhexosamine pyrophosphorylase-like protein 1 isoform X1

    2. XM_054364155.1 → XP_054220130.1  UDP-N-acetylhexosamine pyrophosphorylase-like protein 1 isoform X2

    3. XM_054364156.1 → XP_054220131.1  UDP-N-acetylhexosamine pyrophosphorylase-like protein 1 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3KQV9.2 GenPept UniProtKB/Swiss-Prot:Q3KQV9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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