XXYLT1 - xyloside xylosyltransferase 1 Gene

Homo sapiens

Also known as C3orf21

Gene ID: 152002 | Gene type: protein coding

About XXYLT1

Cytogenetic location: 3q29 Genomic coordinates (GRCh38): 3:195,068,284-195,271,159 (from NCBI)

This gene has 12 transcripts (splice variants), 207 orthologues and 5 paralogues. Ubiquitous expression in placenta (RPKM 1.4), esophagus (RPKM 1.2) and 24 other tissues.

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]

XXYLT1 Products(3)

mRNA	Protein	Name
NM_001308069.2	NP_001294998.1	xyloside xylosyltransferase 1 isoform 2
NM_001410854.1	NP_001397783.1	xyloside xylosyltransferase 1 isoform 3
NM_152531.5	NP_689744.3	xyloside xylosyltransferase 1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables UDP-xylosyltransferase activity	IDA IDA: Inferred from direct assay	8982869	GOA
enables magnesium ion binding	IDA IDA: Inferred from direct assay	8982869	GOA
enables manganese ion binding	IDA IDA: Inferred from direct assay	8982869	GOA
enables xylosyl alpha-1,3-xylosyltransferase activity	IDA IDA: Inferred from direct assay	22117070	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in O-glycan processing	IDA IDA: Inferred from direct assay	8982869	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	22117070	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

XXYLT1 Protein Structure

Glyco_transf_8

0
100
200
300
393 a.a.

Protein Preferred Names

Protein Names

xyloside xylosyltransferase 1

UDP-xylose:alpha-xyloside alpha-1,3-xylosyltransferase

Related Diseases

Diseases

Alias

Cone-Rod Dystrophy 15

Retinitis Pigmentosa 65	CORD15
Dystrophy, Cone-Rod, Type 15

Cone-Rod Dystrophy 12

CORD12

Dystrophy, Cone-Rod, Type 12

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z

Limb-Girdle Muscular Dystrophy 21

Dowling-Degos Disease

Reticular Pigment Anomaly Of Flexures	Dark Dot Disease
Reticulate Acropigmentation Of Kitamura	Dowling-Degos Kitamura Disease
Kitamura Reticulate Acropigmentation	Ddd
Dowling-Degos-Kitamura Disease	Reticular Pigmented Anomaly Of Flexures

Branchiootic Syndrome

Bo Syndrome	Branchiootic Dysplasia
Bor	Bo Syndrome 1
Bos1	Branchiootic Syndrome 1

Craniofacial Microsomia

Goldenhar Syndrome	Hemifacial Microsomia
Oculoauriculovertebral Spectrum	Oavs
Oculo-Auriculo-Vertebral Spectrum	CFM
Oav Dysplasia	Facioauriculovertebral Sequence
Fav Sequence	First And Second Branchial Arch Syndrome
Otomandibular Dysostosis	Hfm
Oculoauriculovertebral Dysplasia	Facio-Auriculo-Vertebral Spectrum
Facioauriculovertebral Dysplasia	Oculo-Auriculo-Vertebral Dysplasia
First Arch Syndrome	Oav Dysplasia
Goldenhar Disease	Expanded Spectrum Hemifacial Microsomia
Expanded Spectrum Of Hemifacial Microsomia	Oculoauriculovertebral Syndrome
Oavd	Asymmetric Hypoplasia Of Facial Structures
Auriculobranchiogenic Dysplasia	Fav
First And Second Pharyngeal Arch Syndromes	Goldenhar-Gorlin Syndrome
Lateral Facial Dysplasia	Oav Complex
Oral-Mandibular-Auricular Syndrome	Unilateral Intrauterine Facial Necrosis
Unilateral Mandibulofacial Dysostosis	Oav Spectrum
Oculoauricular Vertebral Dysplasia	Microsomia, Hemifacial
Goldenhar Syndrome With Ipsilateral Radial Defect

Adams-Oliver Syndrome

Adams Oliver Syndrome	Aos
Congenital Scalp Defects With Distal Limb Reduction Anomalies	Aplasia Cutis Congenita With Terminal Transverse Limb Defects
Congenital Scalp Defects With Distal Limb Anomalies	Limb, Scalp And Skull Defects
Limb Scalp And Skull Defects	Absence Defect Of Limbs, Scalp, And Skull

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15905	XXYLT1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	XXYLT1	VGNC	VGNC:79630
Mus musculus	XXYLT1	MGD	MGI:2146443
Felis catus	XXYLT1	VGNC	VGNC:102869
Bos taurus	XXYLT1	VGNC	VGNC:53613
Rattus norvegicus	XXYLT1	RGD	RGD:1308154

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