Xylt1 MGI Mouse Gene Detail - MGI:2451073

Symbol

Xylt1
Name

xylosyltransferase 1

Feature Type

protein coding gene
IDs

MGI:2451073
NCBI Gene: 233781
Alliance

gene page
Transcription Start Sites

10 TSS

Sequence Map

Chr7:116980214-117266853 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 7, 62.93 cM
Mapping Data

1 experiment

SNPs within 2kb

8106 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2451073	protein coding gene	Chr7:116980214-117272803 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0032893	protein coding gene	Chr7:121161308-121461937 (+)
A/J	MGP_AJ_G0032876	protein coding gene	Chr7:118105783-118407832 (+)
AKR/J	MGP_AKRJ_G0032808	protein coding gene	Chr7:121123577-121419444 (+)
BALB/cJ	MGP_BALBcJ_G0032881	protein coding gene	Chr7:117829215-118126060 (+)
C3H/HeJ	MGP_C3HHeJ_G0032591	protein coding gene	Chr7:121034002-121339572 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0033387	protein coding gene	Chr7:126015889-126329812 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0030359	protein coding gene	Chr7:119583305-119872400 (+)
CAST/EiJ	MGP_CASTEiJ_G0031919	protein coding gene	Chr7:112738925-113036730 (+)
CBA/J	MGP_CBAJ_G0032564	protein coding gene	Chr7:130214884-130536510 (+)
DBA/2J	MGP_DBA2J_G0032716	protein coding gene	Chr7:116164409-116457042 (+)
FVB/NJ	MGP_FVBNJ_G0032669	protein coding gene	Chr7:115998445-116296524 (+)
LP/J	MGP_LPJ_G0032810	protein coding gene	Chr7:122673712-122959678 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0032701	protein coding gene	Chr7:131782043-132091556 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0033407	protein coding gene	Chr7:120098597-120392907 (+)
PWK/PhJ	MGP_PWKPhJ_G0031627	protein coding gene	Chr7:109034403-109350018 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0031474	protein coding gene	Chr7:106847664-107174164 (+)
WSB/EiJ	MGP_WSBEiJ_G0032032	protein coding gene	Chr7:120975509-121285089 (+)

Human Ortholog

XYLT1, xylosyltransferase 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

XYLT1, xylosyltransferase 1
Synonyms

DBQD2, PXYLT1, XT1, XT-I, XTI, xylT-I, XYLTI
Links

HGNC:15516

NCBI Gene ID: 64131

neXtProt AC: NX_Q86Y38

UniProt: Q86Y38
Chr Location

16p12.3; chr16:17101769-17470960 (-) GRCh38

MGI Vertebrate Homology

Xylt1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: XYLT1
Gene Tree

Xylt1

Diseases

3 with human XYLT1 associations

				Human Disease	Mouse Models
				Desbuquois dysplasia IDs Desbuquois dysplasia DOID:0060462 MESH:C535943 NCI:C124056 OMIM:251450 OMIM:615777 ORDO:1425 UMLS_CUI:C0432242
				pseudoxanthoma elasticum IDs pseudoxanthoma elasticum DOID:2738 MESH:D011561 NCI:C85036 OMIM:177850 OMIM:264800 ORDO:758 UMLS_CUI:C0033847
				type 1 diabetes mellitus IDs type 1 diabetes mellitus DOID:9744 ICD10CM:E10 KEGG:04940 MESH:D003922 NCI:C2986 OMIM:222100 UMLS_CUI:C0011854

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

36 phenotypes from 4 alleles in 4 genetic backgrounds
8 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

6
Chemically induced (ENU)

3
Endonuclease-mediated

1
Targeted

2
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

38 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for an ENU-induced allele exhibit partial preweaning lethality, impaired chondrocyte maturation and decreased skeletal length.

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All GO Annotations

30
GO References

10

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

732
Tissues

3
cDNA Data

3
Literature Summary

3

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

GEO

Expression Atlas
Other Vertebrate Links

Xenbase xylt1

ZFIN xylt1

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All Sequences

35
RefSeq

2
UniProt

2
CCDS

CCDS40101.1

Ensembl

ENSMUSG00000030657 (Evidence)
NCBI Gene

233781

			Length	Strain/Species	Flank
genomic	233781	NCBI Gene Model \| MGI Sequence Detail	286640	C57BL/6J	± kb
transcript	NM_175645	RefSeq \| MGI Sequence Detail	3070	C57BL/6
polypeptide	Q811B1	UniProt \| EBI \| MGI Sequence Detail	953	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000017515 xylosyltransferase 1

(term hierarchy)
EC

2.4.2.26
InterPro Domains

IPR003406 Glycosyl transferase, family 14

IPR043538 Xylosyltransferase

IPR024448 Xylosyltransferase, C-terminal
GlyGen

Q811B1 4 sites, 1 O-linked glycan (1 site)

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All nucleic 4

cDNA 3

Primer pair 1

Microarray probesets 1

Summaries

All 31

Developmental Gene Expression 3

Gene Ontology 10

Phenotypes 8
Earliest

J:66285 Gotting C, et al., Molecular cloning and expression of human UDP-d-Xylose:Proteoglycan core protein beta-d-xylosyltransferase and its first isoform XT-II. J Mol Biol. 2000 Dec 8;304(4):517-28
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Xylt1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr68698	Chr7:116979253-116979265 (+)	-955 bp
Tssr68699	Chr7:116980172-116980227 (+)	-14 bp
Tssr68700	Chr7:116980231-116980249 (+)	26 bp
Tssr68701	Chr7:116989266-116989301 (+)	9,070 bp
Tssr68702	Chr7:116989370-116989382 (+)	9,162 bp
Tssr68703	Chr7:117010669-117010702 (+)	30,472 bp
Tssr68704	Chr7:117084768-117084773 (+)	104,557 bp
Tssr68705	Chr7:117085942-117085989 (+)	105,752 bp
Tssr68706	Chr7:117167700-117167756 (+)	187,514 bp
Tssr68707	Chr7:117203695-117203699 (+)	223,483 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24