Details for: RXYLT1

Gene ID: 10329

Symbol: RXYLT1

Ensembl ID: ENSG00000118600

Description: ribitol xylosyltransferase 1

Associated with

Other Information

Genular Protein ID: 151600244

Symbol: RXLT1_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q9Y2B1 A8K017 Q6PKD6

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChEBI 5 ChiTaRS 1 ComplexPortal 1 DNASU 1 DisGeNET 1 EC 1 EMBL 5 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 6 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 2 Rhea 4 SAM 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10072769

Title: Selection of cDNAs encoding putative type II membrane proteins on the cell surface from a human full-length cDNA bank.

PubMed ID: 10072769

DOI: 10.1016/s0378-1119(99)00004-9

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 23519211

Title: Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry.

PubMed ID: 23519211

DOI: 10.1126/science.1233675

PubMed ID: 25279699

Title: The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated alpha-dystroglycan functional glycosylation.

PubMed ID: 25279699

DOI: 10.7554/elife.03941

PubMed ID: 27130732

Title: The functional O-mannose glycan on alpha-dystroglycan contains a phospho-ribitol primed for matriglycan addition.

PubMed ID: 27130732

DOI: 10.7554/elife.14473

PubMed ID: 27212206

Title: TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement.

PubMed ID: 27212206

DOI: 10.1016/j.nmd.2016.05.003

PubMed ID: 27733679

Title: The muscular dystrophy gene TMEM5 encodes a ribitol beta1,4-xylosyltran sferase required for the functional glycosylation of dystroglycan.

PubMed ID: 27733679

DOI: 10.1074/jbc.m116.751917

PubMed ID: 27601598

Title: Direct mapping of additional modifications on phosphorylated O-glycans of alpha-dystroglycan by mass spectrometry analysis in conjunction with knocking out of causative genes for dystroglycanopathy.

PubMed ID: 27601598

DOI: 10.1074/mcp.m116.062729

PubMed ID: 29477842

Title: Cell endogenous activities of fukutin and FKRP coexist with the ribitol xylosyltransferase, TMEM5.

PubMed ID: 29477842

DOI: 10.1016/j.bbrc.2018.02.162

PubMed ID: 23217329

Title: Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.

PubMed ID: 23217329

DOI: 10.1016/j.ajhg.2012.10.009

Sequence Information:

  • Length: 443
  • Mass: 51146
  • Checksum: 07BBD23A91973A52
  • Sequence:
    • MRLTRKRLCS FLIALYCLFS LYAAYHVFFG RRRQAPAGSP RGLRKGAAPA RERRGREQST 
LESEEWNPWE GDEKNEQQHR FKTSLQILDK STKGKTDLSV QIWGKAAIGL YLWEHIFEGL 
LDPSDVTAQW REGKSIVGRT QYSFITGPAV IPGYFSVDVN NVVLILNGRE KAKIFYATQW 
LLYAQNLVQI QKLQHLAVVL LGNEHCDNEW INPFLKRNGG FVELLFIIYD SPWINDVDVF 
QWPLGVATYR NFPVVEASWS MLHDERPYLC NFLGTIYENS SRQALMNILK KDGNDKLCWV 
SAREHWQPQE TNESLKNYQD ALLQSDLTLC PVGVNTECYR IYEACSYGSI PVVEDVMTAG 
NCGNTSVHHG APLQLLKSMG APFIFIKNWK ELPAVLEKEK TIILQEKIER RKMLLQWYQH 
FKTELKMKFT NILESSFLMN NKS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.