Seroatlas · Human Serome Atlas

XYLT1

Xylosyltransferase 1

Also known as: PXYLT1, XT-I, XYLT1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q86Y38
Gene: XYLT1
Ensembl: ENSG00000103489
Chromosome: 16
Canonical length: 959 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted secreted proteins
Subcellular location: Endoplasmic reticulum,Plasma membrane
Secretome location: Secreted to blood

OverviewNCBI Gene

This locus encodes a xylosyltransferase enzyme. The encoded protein catalyzes transfer of UDP-xylose to serine residues of an acceptor protein substrate. This transfer reaction is necessary for biosynthesis of glycosaminoglycan chains. Mutations in this gene have been associated with increased severity of pseudoxanthoma elasticum.[provided by RefSeq, Nov 2009]

Canonical amino-acid sequenceUniProt

959 residues, UniProt reviewed canonical sequence.

>Q86Y38|XYLT1
     1  MVAAPCARRL ARRSHSALLA ALTVLLLQTL VVWNFSSLDS GAGERRGGAA VGGGEQPPPA
    61  PAPRRERRDL PAEPAAARGG GGGGGGGGGG RGPQARARGG GPGEPRGQQP ASRGALPARA
   121  LDPHPSPLIT LETQDGYFSH RPKEKVRTDS NNENSVPKDF ENVDNSNFAP RTQKQKHQPE
   181  LAKKPPSRQK ELLKRKLEQQ EKGKGHTFPG KGPGEVLPPG DRAAANSSHG KDVSRPPHAR
   241  KTGGSSPETK YDQPPKCDIS GKEAISALSR AKSKHCRQEI GETYCRHKLG LLMPEKVTRF
   301  CPLEGKANKN VQWDEDSVEY MPANPVRIAF VLVVHGRASR QLQRMFKAIY HKDHFYYIHV
   361  DKRSNYLHRQ VLQVSRQYSN VRVTPWRMAT IWGGASLLST YLQSMRDLLE MTDWPWDFFI
   421  NLSAADYPIR TNDQLVAFLS RYRDMNFLKS HGRDNARFIR KQGLDRLFLE CDAHMWRLGD
   481  RRIPEGIAVD GGSDWFLLNR RFVEYVTFST DDLVTKMKQF YSYTLLPAES FFHTVLENSP
   541  HCDTMVDNNL RITNWNRKLG CKCQYKHIVD WCGCSPNDFK PQDFHRFQQT ARPTFFARKF
   601  EAVVNQEIIG QLDYYLYGNY PAGTPGLRSY WENVYDEPDG IHSLSDVTLT LYHSFARLGL
   661  RRAETSLHTD GENSCRYYPM GHPASVHLYF LADRFQGFLI KHHATNLAVS KLETLETWVM
   721  PKKVFKIASP PSDFGRLQFS EVGTDWDAKE RLFRNFGGLL GPMDEPVGMQ KWGKGPNVTV
   781  TVIWVDPVNV IAATYDILIE STAEFTHYKP PLNLPLRPGV WTVKILHHWV PVAETKFLVA
   841  PLTFSNRQPI KPEEALKLHN GPLRNAYMEQ SFQSLNPVLS LPINPAQVEQ ARRNAASTGT
   901  ALEGWLDSLV GGMWTAMDIC ATGPTACPVM QTCSQTAWSS FSPDPKSELG AVKPDGRLR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against XYLT1 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: Secreted
Secreted: Yes
Transmembrane segments: 1
Mean surface accessibility (rSASA): 0.35
Highest tissue expression: 8.1 nTPM

Expression across tissuesHPA

Tissue

colon: 8.1 nTPM
retina: 7.7 nTPM
endometrium: 7.5 nTPM
cervix: 7.3 nTPM
bone marrow: 6.8 nTPM
cerebral cortex: 6.5 nTPM

Single-cell type

bergmann glia: 2,104 nCPM
oligodendrocyte progenitor cells: 1,744 nCPM
choroid plexus epithelial cells: 715 nCPM
podocytes: 244 nCPM
oligodendrocytes: 196 nCPM
brain excitatory neurons: 186 nCPM

Immune cell

non-classical monocyte: 2 nTPM
intermediate monocyte: 1.2 nTPM
eosinophil: 0.4 nTPM
myeloid DC: 0.4 nTPM
NK-cell: 0.4 nTPM
basophil: 0.3 nTPM

Brain region

choroid plexus: 25 nTPM
cerebral cortex: 25 nTPM
basal ganglia: 24 nTPM
hippocampal formation: 22 nTPM
amygdala: 20 nTPM
white matter: 17 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about XYLT1.

Disease | AllUniProt

Conditions XYLT1 is implicated in, by any mechanism.

Desbuquois dysplasia 2 (DBQD2) MIM:615777
Pseudoxanthoma elasticum (PXE) MIM:264800

Disease | GeneticClinVar

26 pathogenic / likely-pathogenic of 658 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Desbuquois dysplasia 2
Desbuquois dysplasia 1
Inborn genetic diseases
Autosomal recessive XYLT1-related disorders

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): 0.34
gnomAD pLI: 0.92
gnomAD missense Z: 0.59
DepMap mean gene effect: 0.03
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads XYLT1 as an antibody target. Whether an autoantibody or antibody against XYLT1 could matter depends on whether native XYLT1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

XYLT1 is annotated as secreted, so native XYLT1 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

The present source text does not explicitly label XYLT1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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