Seroatlas · Human Serome Atlas

RXYLT1

Ribitol-5-phosphate xylosyltransferase 1

Also known as: HP10481, RXLT1_HUMAN, TMEM5

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9Y2B1
Gene
RXYLT1
Ensembl
ENSG00000118600
Chromosome
12
Canonical length
443 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Golgi apparatus

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

443 residues, UniProt reviewed canonical sequence.

>Q9Y2B1|RXYLT1
     1  MRLTRKRLCS FLIALYCLFS LYAAYHVFFG RRRQAPAGSP RGLRKGAAPA RERRGREQST
    61  LESEEWNPWE GDEKNEQQHR FKTSLQILDK STKGKTDLSV QIWGKAAIGL YLWEHIFEGL
   121  LDPSDVTAQW REGKSIVGRT QYSFITGPAV IPGYFSVDVN NVVLILNGRE KAKIFYATQW
   181  LLYAQNLVQI QKLQHLAVVL LGNEHCDNEW INPFLKRNGG FVELLFIIYD SPWINDVDVF
   241  QWPLGVATYR NFPVVEASWS MLHDERPYLC NFLGTIYENS SRQALMNILK KDGNDKLCWV
   301  SAREHWQPQE TNESLKNYQD ALLQSDLTLC PVGVNTECYR IYEACSYGSI PVVEDVMTAG
   361  NCGNTSVHHG APLQLLKSMG APFIFIKNWK ELPAVLEKEK TIILQEKIER RKMLLQWYQH
   421  FKTELKMKFT NILESSFLMN NKS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RXYLT1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Other membrane
Secreted
No
Transmembrane segments
1
Mean surface accessibility (rSASA)
0.32
Highest tissue expression
7.3 nTPM

Expression across tissuesHPA

Tissue

  • heart muscle: 7.3 nTPM
  • epididymis: 5.2 nTPM
  • skeletal muscle: 5.1 nTPM
  • parathyroid gland: 4.7 nTPM
  • adrenal gland: 4.6 nTPM
  • testis: 4 nTPM

Single-cell type

  • late primary spermatocytes: 191 nCPM
  • early spermatids: 114 nCPM
  • early primary spermatocytes: 101 nCPM
  • respiratory ionocytes: 94 nCPM
  • melanocytes: 58 nCPM
  • epididymal principal cells: 58 nCPM

Immune cell

  • eosinophil: 0.6 nTPM
  • naive B-cell: 0.3 nTPM
  • memory B-cell: 0.2 nTPM
  • basophil: 0.1 nTPM
  • classical monocyte: 0 nTPM
  • gdT-cell: 0 nTPM

Brain region

  • medulla oblongata: 0.8 nTPM
  • hypothalamus: 0.5 nTPM
  • white matter: 0.4 nTPM
  • cerebellum: 0.3 nTPM
  • cerebral cortex: 0.3 nTPM
  • choroid plexus: 0.3 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RXYLT1.

Disease | AllUniProt

Conditions RXYLT1 is implicated in, by any mechanism.

  • Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A10 (MDDGA10) MIM:615041

Disease | GeneticClinVar

56 pathogenic / likely-pathogenic of 456 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.93
gnomAD pLI
0
DepMap mean gene effect
-0.09
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

  • ribitol beta-1
  • 4-xylosyltransferase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

  • Ribitol-5-phosphate xylosyltransferase 1-like
  • RXYLT1, C-terminal domain
  • RXYLT1, N-terminal domain
  • RXYLT1 C-terminal domain
  • RXYLT1 N-terminal domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of RXYLT1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads RXYLT1 as an antibody target. Whether an autoantibody or antibody against RXYLT1 could matter depends on whether native RXYLT1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RXYLT1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label RXYLT1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/RXYLT1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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