Seroatlas · Human Serome Atlas

GLT8D1

Glycosyltransferase 8 domain-containing protein 1

Also known as: AD-017, FLJ14611, GL8D1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q68CQ7
Gene: GLT8D1
Ensembl: ENSG00000016864
Chromosome: 3
Canonical length: 371 aa
Protein class: Metabolic proteins, Predicted intracellular proteins
Subcellular location: Golgi apparatus,Centrosome

OverviewNCBI Gene

This gene encodes a member of the glycosyltransferase family. The specific function of this protein has not been determined. Alternative splicing results in multiple transcript variants of this gene [provided by RefSeq, May 2013]

Canonical amino-acid sequenceUniProt

371 residues, UniProt reviewed canonical sequence.

>Q68CQ7|GLT8D1
     1  MSFRKVNIII LVLAVALFLL VLHHNFLSLS SLLRNEVTDS GIVGPQPIDF VPNALRHAVD
    61  GRQEEIPVVI AASEDRLGGA IAAINSIQHN TRSNVIFYIV TLNNTADHLR SWLNSDSLKS
   121  IRYKIVNFDP KLLEGKVKED PDQGESMKPL TFARFYLPIL VPSAKKAIYM DDDVIVQGDI
   181  LALYNTALKP GHAAAFSEDC DSASTKVVIR GAGNQYNYIG YLDYKKERIR KLSMKASTCS
   241  FNPGVFVANL TEWKRQNITN QLEKWMKLNV EEGLYSRTLA GSITTPPLLI VFYQQHSTID
   301  PMWNVRHLGS SAGKRYSPQF VKAAKLLHWN GHLKPWGRTA SYTDVWEKWY IPDPTGKFNL
   361  IRRYTEISNI K

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GLT8D1 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): 0.31
Highest tissue expression: 65 nTPM

Expression across tissuesHPA

Tissue

liver: 65 nTPM
pituitary gland: 61 nTPM
testis: 60 nTPM
thyroid gland: 60 nTPM
ovary: 59 nTPM
fallopian tube: 51 nTPM

Single-cell type

late primary spermatocytes: 229 nCPM
fallopian tube ciliated cells: 95 nCPM
respiratory ciliated cells: 89 nCPM
extravillous trophoblasts: 86 nCPM
decidual stromal cells: 83 nCPM
early primary spermatocytes: 75 nCPM

Immune cell

basophil: 39 nTPM
NK-cell: 30 nTPM
plasmacytoid DC: 23 nTPM
naive CD4 T-cell: 22 nTPM
memory CD4 T-cell: 22 nTPM
eosinophil: 22 nTPM

Brain region

choroid plexus: 53 nTPM
white matter: 36 nTPM
midbrain: 35 nTPM
hypothalamus: 34 nTPM
basal ganglia: 33 nTPM
spinal cord: 33 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GLT8D1.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 56 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Frontotemporal dementia

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): 1.13
gnomAD pLI: 0
gnomAD missense Z: 0.62
DepMap mean gene effect: -0.04
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Molecular functions

UDP-glycosyltransferase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads GLT8D1 as an antibody target. Whether an autoantibody or antibody against GLT8D1 could matter depends on whether native GLT8D1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GLT8D1 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 GLT8D1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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