GlyCosmos Portal

Submissions

ribitol xylosyltransferase 1

Summary

Gene Symbol

RXYLT1

Aliases

HP10481

Organism

Homo sapiens (human)

External Links

NCBI Gene

10329

HGNC

13530

KEGG Gene ID

hsa:10329

PubChem

10329

Alliance of Genome Resources

HGNC:13530

JoGo

RXYLT1

TogoVar

RXYLT1

Annotation

Keyword

Congenital muscular dystrophy
Disease variant
Dystroglycanopathy
Golgi apparatus
Lissencephaly
Proteomics identification
Reference proteome
Signal-anchor
Transferase
Transmembrane helix

Proteins

Displaying **all 2** entries
UniProt	Protein Name
Q9Y2B1	Transmembrane protein 5 UDP-D-xylose:ribitol-5-phosphate beta1,4-xylosyltransferase
A0A8I5KWX9

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 5** entries
GO Term	Evidence Code	PMID
protein O-linked glycosylation	TAS
protein O-linked glycosylation via mannose	IDA
protein O-linked glycosylation via mannose	IMP
protein O-linked glycosylation via mannose	IBA
protein O-linked glycosylation via mannose	IEA

GO Hierarchy

biological process

cellular process [inference]

metabolic process [inference]

biosynthetic process [inference]

macromolecule biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

protein O-linked glycosylation

protein O-linked glycosylation via mannose

carbohydrate derivative biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

protein O-linked glycosylation

protein O-linked glycosylation via mannose

macromolecule metabolic process [inference]

macromolecule biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

protein O-linked glycosylation

protein O-linked glycosylation via mannose

protein metabolic process [inference]

glycoprotein metabolic process [inference]

glycoprotein biosynthetic process [inference]

protein O-linked glycosylation

protein O-linked glycosylation via mannose

primary metabolic process [inference]

protein metabolic process [inference]

glycoprotein metabolic process [inference]

glycoprotein biosynthetic process [inference]

protein O-linked glycosylation

protein O-linked glycosylation via mannose

carbohydrate derivative metabolic process [inference]

glycoprotein metabolic process [inference]

glycoprotein biosynthetic process [inference]

protein O-linked glycosylation

protein O-linked glycosylation via mannose

carbohydrate derivative biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

protein O-linked glycosylation

protein O-linked glycosylation via mannose

Displaying entries **6 - 9** of 9 in total

« First

‹ Prev

1

2
GO Term	Evidence Code	PMID
Golgi apparatus	IDA
Golgi apparatus	IBA
Golgi apparatus	IEA
plasma membrane	TAS

GO Hierarchy

cellular component

cellular anatomical structure [inference]

nucleoplasm

membrane [inference]

plasma membrane

organelle membrane [inference]

bounding membrane of organelle [inference]

Golgi membrane

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

Golgi apparatus

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

Golgi apparatus

Displaying **all 5** entries
GO Term	Evidence Code	PMID
protein binding	IPI
ribitol beta-1,4-xylosyltransferase activity	TAS
ribitol beta-1,4-xylosyltransferase activity	IDA
ribitol beta-1,4-xylosyltransferase activity	IBA
ribitol beta-1,4-xylosyltransferase activity	IEA

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

glycosyltransferase activity [inference]

UDP-glycosyltransferase activity [inference]

UDP-xylosyltransferase activity [inference]

ribitol beta-1,4-xylosyltransferase activity

pentosyltransferase activity [inference]

xylosyltransferase activity [inference]

UDP-xylosyltransferase activity [inference]

ribitol beta-1,4-xylosyltransferase activity

binding [inference]

protein binding

Gene Ontology information from NCBI Gene and UniProt.

KEGG BRITE Database

Orthology

K21052

Name

alpha-dystroglycan beta1,4-xylosyltransferase [EC:2.4.2.61]

References

27733679

Rhea

RHEA:57880

UDP-α-D-xylose

H⁺ + UDP

Enzyme

2.4.2.61

PMID

27733679

RHEA:15365

UDP-α-D-xylose

H⁺ + UDP

Enzyme

2.4.2.61

PMID

27733679

Disease

Disease Ontology

Displaying 1 entry
DO ID	Disease Name	Source
DOID:0111239	congenital muscular dystrophy-dystroglycanopathy type A10	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of 53 in total

1

2

3

4

5

6

Next ›

Last »
HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000028	Cryptorchidism
HP:0000133	Gonadal dysgenesis
HP:0000175	Cleft palate
HP:0000176	Submucous cleft hard palate
HP:0000193	Bifid uvula
HP:0000238	Hydrocephalus
HP:0000252	Microcephaly
HP:0000256	Macrocephaly
HP:0000358	Posteriorly rotated ears

Displaying **all 2** entries
Disease ID	Disease Name
ORPHA:899	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 muscular dystrophy-dystroglycanopathy, type A
OMIM:615041	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10

PubChem Disease

MedGen Diseases

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10

OMIM Phenotypes

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10; MDDGA10

KEGG Diseases

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

Displaying **all 5** entries
Species	Gene ID	Alliance of Genome Resources
Mus musculus	216395	MGI:2384919
Rattus norvegicus	299841	RGD:1309356
Danio rerio	557187	ZFIN:ZDB-GENE-060929-1018
Xenopus laevis	446820	Xenbase:XB-GENE-1009106
Xenopus tropicalis	100145540	Xenbase:XB-GENE-1009102

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

Guidelines

Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements