XYLT1 xylosyltransferase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: XYLT1provided by HGNC
Official Full Name: xylosyltransferase 1provided by HGNC
Primary source: HGNC:HGNC:15516
See related: Ensembl:ENSG00000103489 MIM:608124; AllianceGenome:HGNC:15516
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: XT1; XTI; XT-I; DBQD2; XYLTI; PXYLT1; xylT-I
Summary: This locus encodes a xylosyltransferase enzyme. The encoded protein catalyzes transfer of UDP-xylose to serine residues of an acceptor protein substrate. This transfer reaction is necessary for biosynthesis of glycosaminoglycan chains. Mutations in this gene have been associated with increased severity of pseudoxanthoma elasticum.[provided by RefSeq, Nov 2009]
Expression: Ubiquitous expression in brain (RPKM 5.2), placenta (RPKM 4.3) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p12.3

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (17101769..17470960, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (17108779..17478203, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (17195626..17564817, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SNAI1-activated long non-coding RNA LINC01711 promotes hepatic fibrosis cell proliferation and migration by regulating XYLT1.
Title: SNAI1-activated long non-coding RNA LINC01711 promotes hepatic fibrosis cell proliferation and migration by regulating XYLT1.
Cytokine-mediated induction of human xylosyltransferase-I in systemic sclerosis skin fibroblasts.
Title: Cytokine-mediated induction of human xylosyltransferase-I in systemic sclerosis skin fibroblasts.
Development of a xylosyltransferase-I-selective UPLC MS/MS activity assay using a specific acceptor peptide.
Title: Development of a xylosyltransferase-I-selective UPLC MS/MS activity assay using a specific acceptor peptide.
Activin A-Mediated Regulation of XT-I in Human Skin Fibroblasts.
Title: Activin A-Mediated Regulation of XT-I in Human Skin Fibroblasts.
Lysophosphatidic acid receptor 5 transactivation of TGFBR1 stimulates the mRNA expression of proteoglycan synthesizing genes XYLT1 and CHST3.
Title: Lysophosphatidic acid receptor 5 transactivation of TGFBR1 stimulates the mRNA expression of proteoglycan synthesizing genes XYLT1 and CHST3.
Expression of xylosyltransferases I and II and their role in the pathogenesis of arthrofibrosis.
Title: Expression of xylosyltransferases I and II and their role in the pathogenesis of arthrofibrosis.
microRNA-145 mediates xylosyltransferase-I induction in myofibroblasts via suppression of transcription factor KLF4.
Title: microRNA-145 mediates xylosyltransferase-I induction in myofibroblasts via suppression of transcription factor KLF4.
HEK293 cells lacking both XT-isoforms are not viable
Title: Xylosyltransferase-deficient human HEK293 cells show a strongly reduced proliferation capacity and viability.
GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome
Title: GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.
Due to the decrease in XYLT1 promoter activity after Sp1 binding site mutation.
Title: microRNA-29b mediates fibrotic induction of human xylosyltransferase-I in human dermal fibroblasts via the Sp1 pathway.

Submit: New GeneRIF Correction See all GeneRIFs (39)

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

Associated conditions

Description	Tests
Autosomal recessive inherited pseudoxanthoma elasticum MedGen: C1275116 OMIM: 264800 GeneReviews: Pseudoxanthoma Elasticum	Compare labs
Desbuquois dysplasia 2 MedGen: C4014294 OMIM: 615777 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Identification of a candidate gene for astigmatism. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vif	vif	HIV-1 Vif modulates the expression of xylosyltransferase I (XYLT1) in Vif-expression T cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-6763 (e-PCR)
- UniSTS:3849

D16S3103 (e-PCR), detects polymorphism
- UniSTS:50953

RH123101 (e-PCR)
- UniSTS:135481

RH98909 (e-PCR)
- UniSTS:84820

D16S3017 (e-PCR)
- UniSTS:75102

RH48694 (e-PCR)
- UniSTS:8050

G17888 (e-PCR)
- UniSTS:74668

RH121453 (e-PCR)
- UniSTS:134582

SHGC-154898 (e-PCR)
- UniSTS:182986

RH48339 (e-PCR)
- UniSTS:44506

SHGC-142101 (e-PCR)
- UniSTS:171251

RH48006 (e-PCR)
- UniSTS:38900

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein xylosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein xylosyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein xylosyltransferase activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in chondroitin sulfate biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in chondroitin sulfate proteoglycan biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in chondroitin sulfate proteoglycan biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic skeletal system development	ISS Inferred from Sequence or Structural Similarity more info
involved_in glycosaminoglycan biosynthetic process	TAS Traceable Author Statement more info	PubMed
involved_in glycosaminoglycan metabolic process	TAS Traceable Author Statement more info
involved_in heparan sulfate proteoglycan biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in heparan sulfate proteoglycan biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in heparan sulfate proteoglycan biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ossification involved in bone maturation	ISS Inferred from Sequence or Structural Similarity more info
involved_in proteoglycan biosynthetic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi cis cisterna	ISS Inferred from Sequence or Structural Similarity more info
located_in Golgi membrane	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: xylosyltransferase 1

Names: beta-D-xylosyltransferase 1; peptide O-xylosyltransferase 1; xylosyltransferase I; xylosyltransferase iota

NP_071449.1

EC 2.4.2.26

XP_016879028.1

EC 2.4.2.26

XP_047290414.1

EC 2.4.2.26

XP_054169595.1

EC 2.4.2.26

XP_054169596.1

EC 2.4.2.26

XP_054188407.1

EC 2.4.2.26

XP_054188408.1

EC 2.4.2.26

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.

Genomic

NG_015843.2 RefSeqGene

Range

4922..374113

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_022166.4 → NP_071449.1 xylosyltransferase 1

Status: REVIEWED

Source sequence(s)

AC009152, AC099494, AC109446, AI524006, AJ539163

Consensus CDS

CCDS10569.1

UniProtKB/Swiss-Prot

Q86Y38, Q9H1B6

Related

ENSP00000261381.6, ENST00000261381.7

Conserved Domains (2) summary

pfam02485
Location:328 → 580

Branch; Core-2/I-Branching enzyme

pfam12529
Location:613 → 793

Xylo_C; Xylosyltransferase C terminal