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    XXYLT1 xyloside xylosyltransferase 1 [ Homo sapiens (human) ]

    Gene ID: 152002, updated on 27-Nov-2024

    Summary

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    Official Symbol
    XXYLT1provided by HGNC
    Official Full Name
    xyloside xylosyltransferase 1provided by HGNC
    Primary source
    HGNC:HGNC:26639
    See related
    Ensembl:ENSG00000173950 MIM:614552; AllianceGenome:HGNC:26639
    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
    C3orf21
    Summary
    Enables magnesium ion binding activity; manganese ion binding activity; and xylosyl alpha-1,3-xylosyltransferase activity. Involved in O-glycan processing. Located in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in placenta (RPKM 1.4), esophagus (RPKM 1.2) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See XXYLT1 in Genome Data Viewer
    Location:
    3q29
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (195068284..195271159, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (197765933..197969040, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (194789013..194991888, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374294 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:194707036-194707536 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:194708829-194709329 Neighboring gene uncharacterized LOC105374295 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:194751125-194752122 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:194752123-194753121 Neighboring gene Sharpr-MPRA regulatory region 6289 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:194781985-194782758 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:194789061-194790260 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:194793833-194794333 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:194799753-194800269 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21037 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_67503 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21038 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21039 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21040 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:194815702-194816901 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:194823367-194824566 Neighboring gene uncharacterized LOC124909476 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15030 Neighboring gene XXYLT1 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:194838030-194838572 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:194838573-194839113 Neighboring gene Sharpr-MPRA regulatory region 14086 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:194846542-194847072 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21042 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21043 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21044 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21045 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21046 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:194859771-194860272 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:194860273-194860772 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21048 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21047 Neighboring gene uncharacterized LOC105374296 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21049 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:194873291-194873932 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:194873933-194874573 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21050 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:194880491-194880991 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:194881004-194881518 Neighboring gene XXYLT1 antisense RNA 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21051 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21052 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:194884078-194884245 Neighboring gene microRNA 3137 Neighboring gene RNA, 7SL, cytoplasmic 36, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:194900787-194901364 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:194901365-194901942 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:194904967-194906166 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:194908389-194908904 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:194927427-194927954 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:194927955-194928480 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:194932550-194933131 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:194947105-194947699 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:194960771-194961333 Neighboring gene RNA, U6 small nuclear 25, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15031 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21053 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:194974283-194975070 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:194976828-194977002 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15032 Neighboring gene uncharacterized LOC124909475 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:194991127-194991918 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15035 Neighboring gene ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 Neighboring gene ribosomal protein L31 pseudogene 22 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21054 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:195154512-195155012 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21055 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15036 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:195163293-195163792 Neighboring gene uncharacterized LOC124906341

    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. C3orf21 ablation promotes the proliferation of lung adenocarcinoma, and its mutation at the rs2131877 locus may serve as a susceptibility marker. Yang L, et al. Oncotarget, 2017 May 16. PMID 28422717, Free PMC Article
    2. XXYLT1 methylation contributes to the occurrence of lung adenocarcinoma: Methylation and lung adenocarcinoma. Zeng H, et al. Medicine (Baltimore), 2021 Jan 8. PMID 33429795, Free PMC Article
    3. Detection of UDP-D-xylose: alpha-D-xyloside alpha 1-->3xylosyltransferase activity in human hepatoma cell line HepG2. Minamida S, et al. J Biochem, 1996 Nov. PMID 8982869
    4. A genome-wide association study reveals susceptibility variants for non-small cell lung cancer in the Korean population. Yoon KA, et al. Hum Mol Genet, 2010 Dec 15. PMID 20876614
    5. Molecular cloning of a xylosyltransferase that transfers the second xylose to O-glucosylated epidermal growth factor repeats of notch. Sethi MK, et al. J Biol Chem, 2012 Jan 20. PMID 22117070, Free PMC Article

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. XXYLT1 methylation contributes to the occurrence of lung adenocarcinoma: Methylation and lung adenocarcinoma.
      Title: XXYLT1 methylation contributes to the occurrence of lung adenocarcinoma: Methylation and lung adenocarcinoma.
    2. our study concluded that C30rf21 rs 2131877 T/C+C/C genotype patients may experience increased nicotine addiction and that C30rf21 can likely serve as a susceptibility marker for lung adenocarcinoma with a higher degree of malignancy.
      Title: C3orf21 ablation promotes the proliferation of lung adenocarcinoma, and its mutation at the rs2131877 locus may serve as a susceptibility marker.
    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

    EBI GWAS Catalog

    Description
    A genome-wide association study reveals susceptibility variants for non-small cell lung cancer in the Korean population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ35155

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables UDP-xylosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables magnesium ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables manganese ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables xylosyl alpha-1,3-xylosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables xylosyl alpha-1,3-xylosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in O-glycan processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in O-glycan processing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    xyloside xylosyltransferase 1
    Names
    UDP-xylose:alpha-xyloside alpha-1,3-xylosyltransferase
    NP_001294998.1
    NP_001397783.1
    NP_689744.3
    XP_005269343.1
    XP_016861238.1
    XP_047303453.1
    XP_054201330.1
    XP_054201331.1
    XP_054201332.1

    NCBI Reference Sequences (RefSeq)

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    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_001308069.2 → NP_001294998.1  xyloside xylosyltransferase 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate 5' exon, contains an alternate 5' terminal exon, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC106705, AI952430, BG721419
      Consensus CDS
      CCDS77874.1
      UniProtKB/TrEMBL
      A0A140T9D0
      Related
      ENSP00000399422.1, ENST00000429994.5
      Conserved Domains (1) summary
      cl11394
      Location:18 → 237
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

    2. NM_001410854.1 → NP_001397783.1  xyloside xylosyltransferase 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC090018, AC106705
      Consensus CDS
      CCDS93439.1
      Related
      ENSP00000409865.1, ENST00000437101.5

    3. NM_152531.5 → NP_689744.3  xyloside xylosyltransferase 1 isoform 1

      See identical proteins and their annotated locations for NP_689744.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC106705, AK075551, BC039067, DA575404
      Consensus CDS
      CCDS43188.1
      UniProtKB/Swiss-Prot
      D3DNW5, Q8NAL3, Q8NBI6, Q8WV03, Q96ME0
      Related
      ENSP00000309640.6, ENST00000310380.11
      Conserved Domains (2) summary
      COG1442
      Location:162 → 353
      RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]
      cl11394
      Location:120 → 383
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      195068284..195271159 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005269286.6 → XP_005269343.1  xyloside xylosyltransferase 1 isoform X2

      See identical proteins and their annotated locations for XP_005269343.1

      Conserved Domains (1) summary
      cl11394
      Location:11 → 196
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

    2. XM_047447497.1 → XP_047303453.1  xyloside xylosyltransferase 1 isoform X3

    3. XM_017005749.3 → XP_016861238.1  xyloside xylosyltransferase 1 isoform X1

    RNA

    1. XR_924105.4 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      197765933..197969040 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345356.1 → XP_054201331.1  xyloside xylosyltransferase 1 isoform X2

    2. XM_054345357.1 → XP_054201332.1  xyloside xylosyltransferase 1 isoform X3

    3. XM_054345355.1 → XP_054201330.1  xyloside xylosyltransferase 1 isoform X1

    RNA

    1. XR_008486664.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NBI6.1 GenPept UniProtKB/Swiss-Prot:Q8NBI6

    Gene LinkOut

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

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