GXYLT1 - glucoside xylosyltransferase 1 Gene

Also Known as GLT8D3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 283464

About GXYLT1

Cytogenetic location: 12q12 Genomic coordinates (GRCh38): 12:42,081,845-42,144,874 (from NCBI)

This gene has 2 transcripts (splice variants), 282 orthologues and 5 paralogues. Ubiquitous expression in placenta (RPKM 5.6), thyroid (RPKM 5.4) and 25 other tissues.

Summary

GXYLT1 is a xylosyltransferase (EC 2.4.2.-) that adds the first xylose to O-glucose-modified residues in the epidermal growth factor (EGF; MIM 131530) repeats of proteins such as NOTCH1 (MIM 190198) (Sethi et al., 2010 [PubMed 19940119]).[supplied by OMIM, Mar 2010]

GXYLT1 Products (2)

mRNA Protein Name
NM_001099650.2 NP_001093120.1 glucoside xylosyltransferase 1 isoform 2
NM_173601.2 NP_775872.1 glucoside xylosyltransferase 1 isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables UDP-xylosyltransferase activity IDA
IDA: Inferred from direct assay
19940119 GOA
Biological Process GO Annotation Evidence References Source
involved in O-glycan processing IDA
IDA: Inferred from direct assay
19940119 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

GXYLT1 Protein Structure

Glyco_transf_8

Glyco_transf_8: Glycosyl transferase family 8 (175 - 364)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 440 a.a.
Protein Preferred Names Protein Names

glucoside xylosyltransferase 1

  • glycosyltransferase 8 domain containing 3

Related Diseases

Diseases Alias
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z

  • Limb-Girdle Muscular Dystrophy 21
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes

  • Cronkhite-Canada Syndrome

  • Gastric Cronkhite Canada Polyposis

  • Cronkhite-Canada Disease

  • Polyposis Skin Pigmentation Alopecia Fingernail Changes

  • Gastrointestinal Polyposis-Ectodermal Changes Syndrome

  • Gastrointestinal Polyposis-Skin Pigmentation-Alopecia-Fingernail Changes Syndrome

  • Polyposis, Gastrointestinal, With Ectodermal Changes
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
Spondylocostal Dysostosis

  • Jarcho-Levin Syndrome

  • Costovertebral Dysplasia

  • Spondylothoracic Dysostosis

  • Spondylothoracic Dysplasia

  • Scdo

  • Dysostosis, Spondylocostal
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-RS05928 GXYLT1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus GXYLT1 VGNC VGNC:62742
Rattus norvegicus GXYLT1 RGD RGD:1563062
Bos taurus GXYLT1 VGNC VGNC:29726
Canis familiaris GXYLT1 VGNC VGNC:57426
Mus musculus GXYLT1 MGD MGI:2684933
Others GXYLT1 NCBI