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

Gene ID: 91373, updated on 7-Apr-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, Apr 2022]
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_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (137077517..137084538)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (149313363..149320433)
105.20220307 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
  • 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 tumor promotor in gastric cancer through regulation of CDK6. Qi J, et al. Aging (Albany NY), 2020 Apr 20. PMID 32310823, Free PMC Article
  3. 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
  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. The N(6)-methyladenosine-mediated lncRNA WEE2-AS1 promotes glioblastoma progression by stabilizing RPN2. Li B, et al. Theranostics, 2022. PMID 36168628, Free PMC Article

See all (13) 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_2023_10

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

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