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RXYLT1 (ribitol xylosyltransferase 1)

Identity

Alias (NCBI)HP10481
MDDGA10
TMEM5
HGNC (Hugo) RXYLT1
LocusID (NCBI) 10329
Atlas_Id 80361
Location 12q14.2  [Link to chromosome band 12q14]
Location_base_pair Starts at 63779909 and ends at 63809561 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute



External links

 

Nomenclature
HGNC (Hugo)RXYLT1   13530
Cards
Entrez_Gene (NCBI)RXYLT1    ribitol xylosyltransferase 1
AliasesHP10481; MDDGA10; TMEM5
GeneCards (Weizmann)RXYLT1
Ensembl hg19 (Hinxton)ENSG00000118600 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000118600 [Gene_View]  ENSG00000118600 [Sequence]  chr12:63779909-63809561 [Contig_View]  RXYLT1 [Vega]
ICGC DataPortalENSG00000118600
TCGA cBioPortalRXYLT1
AceView (NCBI)RXYLT1
Genatlas (Paris)RXYLT1
SOURCE (Princeton)RXYLT1
Genetics Home Reference (NIH)RXYLT1
Genomic and cartography
GoldenPath hg38 (UCSC)RXYLT1  -     chr12:63779909-63809561 +  12q14.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RXYLT1  -     12q14.2   [Description]    (hg19-Feb_2009)
GoldenPathRXYLT1 - 12q14.2 [CytoView hg19]  RXYLT1 - 12q14.2 [CytoView hg38]
ImmunoBaseENSG00000118600
Genome Data Viewer NCBIRXYLT1 [Mapview hg19]  
OMIM605862   615041   
Gene and transcription
Genbank (Entrez)AB015633 AI458269 AK124211 AK289382 BC002596
RefSeq transcript (Entrez)NM_001278237 NM_014254
Consensus coding sequences : CCDS (NCBI)RXYLT1
Gene ExpressionRXYLT1 [ NCBI-GEO ]   RXYLT1 [ EBI - ARRAY_EXPRESS ]   RXYLT1 [ SEEK ]   RXYLT1 [ MEM ]
Gene Expression Viewer (FireBrowse)RXYLT1 [ Firebrowse - Broad ]
GenevisibleExpression of RXYLT1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10329
GTEX Portal (Tissue expression)RXYLT1
Human Protein AtlasENSG00000118600-RXYLT1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y2B1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y2B1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y2B1
PhosPhoSitePlusQ9Y2B1
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)RXYLT1
SuperfamilyQ9Y2B1
AlphaFold pdb e-kbQ9Y2B1   
Human Protein Atlas [tissue]ENSG00000118600-RXYLT1 [tissue]
Protein Interaction databases
DIP (DOE-UCLA)Q9Y2B1
IntAct (EBI)Q9Y2B1
BioGRIDRXYLT1
STRING (EMBL)RXYLT1
ZODIACRXYLT1
Ontologies - Pathways
QuickGOQ9Y2B1
Ontology : AmiGOGolgi membrane  protein binding  nucleoplasm  Golgi apparatus  Golgi apparatus  integral component of plasma membrane  protein O-linked mannosylation  protein O-linked mannosylation  protein O-linked mannosylation  ribitol beta-1,4-xylosyltransferase activity  ribitol beta-1,4-xylosyltransferase activity  ribitol beta-1,4-xylosyltransferase activity  
Ontology : EGO-EBIGolgi membrane  protein binding  nucleoplasm  Golgi apparatus  Golgi apparatus  integral component of plasma membrane  protein O-linked mannosylation  protein O-linked mannosylation  protein O-linked mannosylation  ribitol beta-1,4-xylosyltransferase activity  ribitol beta-1,4-xylosyltransferase activity  ribitol beta-1,4-xylosyltransferase activity  
NDEx NetworkRXYLT1
Atlas of Cancer Signalling NetworkRXYLT1
Wikipedia pathwaysRXYLT1
Orthology - Evolution
OrthoDB10329
GeneTree (enSembl)ENSG00000118600
Phylogenetic Trees/Animal Genes : TreeFamRXYLT1
Homologs : HomoloGeneRXYLT1
Homology/Alignments : Family Browser (UCSC)RXYLT1
Gene fusions - Rearrangements
Fusion : QuiverRXYLT1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRXYLT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RXYLT1
dbVarRXYLT1
ClinVarRXYLT1
MonarchRXYLT1
1000_GenomesRXYLT1 
Exome Variant ServerRXYLT1
GNOMAD BrowserENSG00000118600
Varsome BrowserRXYLT1
ACMGRXYLT1 variants
VarityQ9Y2B1
Genomic Variants (DGV)RXYLT1 [DGVbeta]
DECIPHERRXYLT1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRXYLT1 
Mutations
ICGC Data PortalRXYLT1 
TCGA Data PortalRXYLT1 
Broad Tumor PortalRXYLT1
OASIS PortalRXYLT1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRXYLT1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DRXYLT1
Mutations and Diseases : HGMDRXYLT1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaRXYLT1
DgiDB (Drug Gene Interaction Database)RXYLT1
DoCM (Curated mutations)RXYLT1
CIViC (Clinical Interpretations of Variants in Cancer)RXYLT1
Cancer3DRXYLT1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605862    615041   
Orphanet
DisGeNETRXYLT1
MedgenRXYLT1
Genetic Testing Registry RXYLT1
NextProtQ9Y2B1 [Medical]
GENETestsRXYLT1
Target ValidationRXYLT1
Huge Navigator RXYLT1 [HugePedia]
ClinGenRXYLT1
Clinical trials, drugs, therapy
MyCancerGenomeRXYLT1
Protein Interactions : CTDRXYLT1
Pharm GKB GenePA37796
PharosQ9Y2B1
Clinical trialRXYLT1
Miscellaneous
canSAR (ICR)RXYLT1
HarmonizomeRXYLT1
DataMed IndexRXYLT1
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXRXYLT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 16:19:41 CEST 2021

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