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XXYLT1 xyloside xylosyltransferase 1 [ Homo sapiens (human) ]

Gene ID: 152002, updated on 26-Oct-2022

Summary

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. Is integral component of endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in placenta (RPKM 1.4), esophagus (RPKM 1.2) and 24 other tissues See more
Orthologs
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Genomic context

See XXYLT1 in Genome Data Viewer
Location:
3q29
Exon count:
11
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (195068284..195271159, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (197765933..197969040, complement)
105.20220307 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 LOC105374295 Neighboring gene Sharpr-MPRA regulatory region 6289 Neighboring gene uncharacterized LOC124909476 Neighboring gene XXYLT1 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 14086 Neighboring gene uncharacterized LOC105374296 Neighboring gene XXYLT1 antisense RNA 2 Neighboring gene microRNA 3137 Neighboring gene RNA, 7SL, cytoplasmic 36, pseudogene Neighboring gene RNA, U6 small nuclear 25, pseudogene Neighboring gene uncharacterized LOC124909475 Neighboring gene ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 Neighboring gene ribosomal protein L31 pseudogene 22 Neighboring gene U6 spliceosomal RNA

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?

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
PubMed 
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
PubMed 
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
xyloside xylosyltransferase 1
Names
UDP-xylose:alpha-xyloside alpha-1,3-xylosyltransferase
NP_001294998.1
NP_689744.3
XP_005269343.1
XP_016861238.1
XP_016861239.1
XP_047303453.1

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_001308069.2NP_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:18237
    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_001410854.1NP_001397783.1  xyloside xylosyltransferase 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC090018, AC106705
    Consensus CDS
    CCDS93439.1
  3. NM_152531.5NP_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
    Q8NBI6, Q96ME0
    Related
    ENSP00000309640.6, ENST00000310380.11
    Conserved Domains (2) summary
    COG1442
    Location:162353
    RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]
    cl11394
    Location:120383
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_005269286.6XP_005269343.1  xyloside xylosyltransferase 1 isoform X2

    See identical proteins and their annotated locations for XP_005269343.1

    Conserved Domains (1) summary
    cl11394
    Location:11196
    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_017005750.3XP_016861239.1  xyloside xylosyltransferase 1 isoform X3

    UniProtKB/Swiss-Prot
    Q8NBI6
    Related
    ENSP00000409865.1, ENST00000437101.5
    Conserved Domains (1) summary
    cl11394
    Location:19180
    Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
  3. XM_047447497.1XP_047303453.1  xyloside xylosyltransferase 1 isoform X4

  4. XM_017005749.3XP_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)