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Protein

Ribitol-5-phosphate xylosyltransferase 1

Gene

RXYLT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

UDP-xylosyltransferase involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity (PubMed:25279699, PubMed:27130732, PubMed:27733679, PubMed:27601598). Acts as a UDP-D-xylose:ribitol-5-phosphate beta1,4-xylosyltransferase, which catalyzes the transfer of UDP-D-xylose to ribitol 5-phosphate (Rbo5P) to form the Xylbeta1-4Rbo5P linkage on O-mannosyl glycan (PubMed:27130732, PubMed:27733679).1 Publication3 Publications

Pathwayi: protein glycosylation

This protein is involved in the pathway protein glycosylation, which is part of Protein modification.3 Publications
View all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.

GO - Molecular functioni

  • ribitol beta-1,4-xylosyltransferase activity Source: UniProtKB

GO - Biological processi

  • protein O-linked mannosylation Source: UniProtKB

Keywordsi

Molecular functionTransferase

Enzyme and pathway databases

UniPathwayiUPA00378

Names & Taxonomyi

Protein namesi
Recommended name:
Ribitol-5-phosphate xylosyltransferase 1Curated (EC:2.4.2.-1 Publication)
Alternative name(s):
Transmembrane protein 5Curated
UDP-D-xylose:ribitol-5-phosphate beta1,4-xylosyltransferase1 Publication
Gene namesi
Name:RXYLT1Imported
Synonyms:TMEM5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000118600.11
HGNCiHGNC:13530 RXYLT1
MIMi605862 gene
neXtProtiNX_Q9Y2B1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 9CytoplasmicSequence analysis9
Transmembranei10 – 30Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini31 – 443ExtracellularSequence analysisAdd BLAST413

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A10 (MDDGA10)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease.
See also OMIM:615041
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069738339Y → C in MDDGA10; abolishes xylosyltransferase activity. 2 PublicationsCorresponds to variant dbSNP:rs150736997EnsemblClinVar.1
Natural variantiVAR_069739340R → L in MDDGA10; abolishes xylosyltransferase activity. 2 PublicationsCorresponds to variant dbSNP:rs397514544EnsemblClinVar.1

Keywords - Diseasei

Congenital muscular dystrophy, Disease mutation, Dystroglycanopathy, Lissencephaly

Organism-specific databases

DisGeNETi10329
MalaCardsiRXYLT1
MIMi615041 phenotype
OpenTargetsiENSG00000118600
Orphaneti899 Walker-Warburg syndrome
PharmGKBiPA37796

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000725871 – 443Ribitol-5-phosphate xylosyltransferase 1Add BLAST443

Proteomic databases

MaxQBiQ9Y2B1
PaxDbiQ9Y2B1
PeptideAtlasiQ9Y2B1
PRIDEiQ9Y2B1

PTM databases

iPTMnetiQ9Y2B1
PhosphoSitePlusiQ9Y2B1

Expressioni

Gene expression databases

BgeeiENSG00000118600
CleanExiHS_TMEM5
ExpressionAtlasiQ9Y2B1 baseline and differential
GenevisibleiQ9Y2B1 HS

Organism-specific databases

HPAiHPA064014

Interactioni

Protein-protein interaction databases

BioGridi115612, 14 interactors
IntActiQ9Y2B1, 2 interactors
STRINGi9606.ENSP00000261234

Structurei

3D structure databases

ProteinModelPortaliQ9Y2B1
SMRiQ9Y2B1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the RXYLT1 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IFPG Eukaryota
ENOG410YH22 LUCA
GeneTreeiENSGT00390000003526
HOGENOMiHOG000007907
HOVERGENiHBG061171
InParanoidiQ9Y2B1
KOiK21052
OMAiCWVSARE
OrthoDBiEOG091G0BR1
PhylomeDBiQ9Y2B1
TreeFamiTF328717

Sequencei

Sequence statusi: Complete.

Q9Y2B1-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MRLTRKRLCS FLIALYCLFS LYAAYHVFFG RRRQAPAGSP RGLRKGAAPA
60 70 80 90 100
RERRGREQST LESEEWNPWE GDEKNEQQHR FKTSLQILDK STKGKTDLSV
110 120 130 140 150
QIWGKAAIGL YLWEHIFEGL LDPSDVTAQW REGKSIVGRT QYSFITGPAV
160 170 180 190 200
IPGYFSVDVN NVVLILNGRE KAKIFYATQW LLYAQNLVQI QKLQHLAVVL
210 220 230 240 250
LGNEHCDNEW INPFLKRNGG FVELLFIIYD SPWINDVDVF QWPLGVATYR
260 270 280 290 300
NFPVVEASWS MLHDERPYLC NFLGTIYENS SRQALMNILK KDGNDKLCWV
310 320 330 340 350
SAREHWQPQE TNESLKNYQD ALLQSDLTLC PVGVNTECYR IYEACSYGSI
360 370 380 390 400
PVVEDVMTAG NCGNTSVHHG APLQLLKSMG APFIFIKNWK ELPAVLEKEK
410 420 430 440
TIILQEKIER RKMLLQWYQH FKTELKMKFT NILESSFLMN NKS
Length:443
Mass (Da):51,146
Last modified:November 1, 1999 - v1
Checksum:i07BBD23A91973A52
GO

Sequence cautioni

The sequence AAH02596 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069738339Y → C in MDDGA10; abolishes xylosyltransferase activity. 2 PublicationsCorresponds to variant dbSNP:rs150736997EnsemblClinVar.1
Natural variantiVAR_069739340R → L in MDDGA10; abolishes xylosyltransferase activity. 2 PublicationsCorresponds to variant dbSNP:rs397514544EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB015633 mRNA Translation: BAA76500.1
AK289382 mRNA Translation: BAF82071.1
CH471054 Genomic DNA Translation: EAW97121.1
BC002596 mRNA Translation: AAH02596.1 Sequence problems.
BC013152 mRNA Translation: AAH13152.1
CCDSiCCDS8966.1
RefSeqiNP_001265166.1, NM_001278237.1
NP_055069.1, NM_014254.2
UniGeneiHs.216386
Hs.716859

Genome annotation databases

EnsembliENST00000261234; ENSP00000261234; ENSG00000118600
GeneIDi10329
KEGGihsa:10329
UCSCiuc001srq.3 human

Similar proteinsi

Entry informationi

Entry nameiRXLT1_HUMAN
AccessioniPrimary (citable) accession number: Q9Y2B1
Secondary accession number(s): A8K017, Q6PKD6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: November 1, 1999
Last modified: May 23, 2018
This is version 113 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

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