Version: 8.0.0
Date: Tue Jan 28 2025
RXYLT1
Homo sapiensHGNC:13530
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

RXYLT1

Species
Homo sapiens
Symbol
RXYLT1
Name
ribitol xylosyltransferase 1
Synonyms
  • HP10481
  • MDDGA10
Biotype
protein coding gene
Automated Description
Enables ribitol beta-1,4-xylosyltransferase activity. Involved in protein O-linked mannosylation. Located in Golgi apparatus and nucleoplasm. Implicated in congenital muscular dystrophy-dystroglycanopathy type A10.
RGD Description
This gene encodes a type II transmembrane protein that is thought to have glycosyltransferase function. Mutations in this gene result in cobblestone lissencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR15576
Stringency:
Additional filters to further constrain the results:
Species Gene symbol Count Best Best reverse
Method
Ensembl ComparaHGNCHieranoidInParanoidOMAOrthoFinderOrthoInspectorPANTHERPhylomeDBSonicParanoidXenbaseZFIN
Mus musculusRxylt110 of 10YesYes☑☑☑☑☑☑☑☑☑☑  
Rattus norvegicusRxylt110 of 10YesYes☑☑☑☑☑☑☑☑☑☑  
Xenopus laevisrxylt1.S1 of 1YesYes          ☑ 
Xenopus tropicalisrxylt19 of 9YesYes☑ ☑☑☑☑☑☑☑☑  
Danio reriorxylt110 of 10YesYes☑ ☑☑☑☑☑☑☑☑ ☑
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

No paralogs for the gene.

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
References
Abnormal cerebellar vermis morphology
Abnormal circulating aldolase concentration
Abnormal circulating creatine kinase concentration
Abnormal circulating lactate dehydrogenase concentration
Abnormal cortical gyration
Abnormal optic nerve morphology
Abnormality of neuronal migration
Absent septum pellucidum
Agenesis of corpus callosum
Anophthalmia
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Disease Associations

Cases where the expected disease association was NOT found
Must provide at least one subject
Cell color indicative of annotation volume
Species
Gene
Association
Disease Qualifier
Disease
Evidence
Source
Based On
References
No records match query. Try removing filters.
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    Alleles and Variants

    Genome location
    Assembly version
    GRCh38
    Viewer Help
    Data currently unavailable; sequence viewer under construction
    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
    Has Disease Annotations
    Has Phenotype Annotations
    NC_000012.12:g.63808881A>Cvariant
    SNP
    • missense variant
    NC_000012.12:g.63780067C>Tvariant
    SNP
    • missense variant
    NC_000012.12:g.63780090A>Tvariant
    SNP
    • missense variant
    NC_000012.12:g.63780117A>Tvariant
    SNP
    • stop gained
    NC_000012.12:g.63781004C>Tvariant
    SNP
    • intron variant
    NC_000012.12:g.63802215C>Tvariant
    SNP
    • stop gained
    NC_000012.12:g.63802252C>Tvariant
    SNP
    • missense variant
    NC_000012.12:g.63802385G>Avariant
    SNP
    • synonymous variant
    NC_000012.12:g.63781187G>Avariant
    SNP
    • intron variant
    NC_000012.12:g.63804950C>Tvariant
    SNP
    • intron variant
    Showing 1 - 10 of 341 rows
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    View detailed Alleles/Variants information
    Download all Alleles/Variants for all genes of the species

    Transgenic Alleles

    No data available

    Models

    No data available

    Sequence Feature Viewer

    Genome location
    Assembly version
    GRCh38
    Viewer Help
    Data currently unavailable; sequence viewer under construction

    Sequence Details

    Loading...

    Expression

    Primary Sources
    None
    Other Sources
    Must provide at least one subject
    Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

    Molecular Interactions

    21 interactor genes based on 35 annotations
    RXYLT1 molecule type
    Interactor gene
    Interactor species
    Interactor molecule type
    Detection methods
    Source
    Reference
    protein
    		ATP1A3Homo sapiens
    protein
    • affinity chromatography technology
    		PMID:33961781
    protein
    		ATP2B2Homo sapiens
    protein
    • affinity chromatography technology
    		PMID:28514442
    protein
    		ATP2B2Homo sapiens
    protein
    • affinity chromatography technology
    		PMID:33961781
    protein
    		ATP2B4Homo sapiens
    protein
    • affinity chromatography technology
    		PMID:28514442
    protein
    		ATP2B4Homo sapiens
    protein
    • affinity chromatography technology
    		PMID:33961781
    protein
    		BSGHomo sapiens
    protein
    • proximity labelling technology
    		PMID:39499777
    protein
    		CANXHomo sapiens
    protein
    • affinity chromatography technology
    		PMID:28514442
    protein
    		CANXHomo sapiens
    protein
    • affinity chromatography technology
    		PMID:33961781
    protein
    		CHPT1Homo sapiens
    protein
    • affinity chromatography technology
    		PMID:28514442
    protein
    		CHPT1Homo sapiens
    protein
    • affinity chromatography technology
    		PMID:33961781
    Showing 1 - 10 of 35 rows
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    Genetic Interactions

    No data available