XXYLT1 - xyloside xylosyltransferase 1 Gene

Also Known as C3orf21

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 152002

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 References 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 References Source
involved in O-glycan processing IDA
IDA: Inferred from direct assay
8982869 GOA
Cellular Component GO Annotation Evidence References 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

Glyco_transf_8: Glycosyl transferase family 8 (204 - 356)

  • 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

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 Set / 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
Others XXYLT1 NCBI