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    RXYLT1 ribitol xylosyltransferase 1 [ Homo sapiens (human) ]

    Gene ID: 10329, updated on 3-Dec-2024

    Summary

    Official Symbol
    RXYLT1provided by HGNC
    Official Full Name
    ribitol xylosyltransferase 1provided by HGNC
    Primary source
    HGNC:HGNC:13530
    See related
    Ensembl:ENSG00000118600 MIM:605862; AllianceGenome:HGNC:13530
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TMEM5; HP10481; MDDGA10
    Summary
    This gene encodes a type II transmembrane protein that is thought to have glycosyltransferase function. Mutations in this gene result in cobblestone lissencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]
    Expression
    Ubiquitous expression in testis (RPKM 8.9), thyroid (RPKM 7.4) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RXYLT1 in Genome Data Viewer
    Location:
    12q14.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (63779909..63809562)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (63758617..63788268)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (64173689..64203342)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene T-box 20 pseudogene Neighboring gene DPY19L2 LCR2 recombination region 1 Neighboring gene DPY19L2 LCR2 recombination region 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4614 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:64173754-64174029 Neighboring gene ribosomal protein S27 pseudogene 24 Neighboring gene RXYLT1 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:64237485-64237986 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:64237987-64238486 Neighboring gene poly(A) binding protein cytoplasmic 1 pseudogene 4 Neighboring gene microRNA 10527 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:64264449-64265038 Neighboring gene SLIT-ROBO Rho GTPase activating protein 1 Neighboring gene ribosomal protein L36a pseudogene 41

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ribitol beta-1,4-xylosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ribitol beta-1,4-xylosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ribitol beta-1,4-xylosyltransferase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in protein O-linked mannosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein O-linked mannosylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein O-linked mannosylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    ribitol-5-phosphate xylosyltransferase 1
    Names
    UDP-D-xylose:ribitol-5-phosphate beta1,4-xylosyltransferase
    transmembrane protein 5
    type II membrane protein
    NP_001265166.1
    NP_055069.1
    XP_047284034.1
    XP_047284035.1
    XP_054226740.1
    XP_054226741.1

    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.

    Genomic

    1. NG_033244.1 RefSeqGene

      Range
      5107..34760
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001278237.2NP_001265166.1  ribitol-5-phosphate xylosyltransferase 1 isoform 2

      See identical proteins and their annotated locations for NP_001265166.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (2) with a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC084357, BC013152, BM547839, BX647419
      UniProtKB/Swiss-Prot
      Q9Y2B1
      UniProtKB/TrEMBL
      G3V1K2
    2. NM_014254.3NP_055069.1  ribitol-5-phosphate xylosyltransferase 1 isoform 1

      See identical proteins and their annotated locations for NP_055069.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC084357, AI458269, AK289382, BC002596
      Consensus CDS
      CCDS8966.1
      UniProtKB/Swiss-Prot
      A8K017, Q6PKD6, Q9Y2B1
      Related
      ENSP00000261234.6, ENST00000261234.11

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      63779909..63809562
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047428079.1XP_047284035.1  ribitol-5-phosphate xylosyltransferase 1 isoform X2

      UniProtKB/TrEMBL
      A0A8I5KWX9, A0A8I5QJ99
      Related
      ENSP00000508435.1, ENST00000690060.1
    2. XM_047428078.1XP_047284034.1  ribitol-5-phosphate xylosyltransferase 1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      63758617..63788268
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054370766.1XP_054226741.1  ribitol-5-phosphate xylosyltransferase 1 isoform X2

      UniProtKB/TrEMBL
      A0A8I5KWX9, A0A8I5QJ99
    2. XM_054370765.1XP_054226740.1  ribitol-5-phosphate xylosyltransferase 1 isoform X1