GLT6D1
Putative glycosyltransferase 6 domain-containing protein 1
Also known as: GL6D1_HUMAN, GLTDC1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q7Z4J2
- Gene
- GLT6D1
- Ensembl
- ENSG00000204007
- Chromosome
- 9
- Canonical length
- 276 aa
- Protein class
- Metabolic proteins, Predicted intracellular proteins
- Secretome location
- Intracellular and membrane
OverviewNCBI Gene
The GT6 glycosyltransferases gene family, which includes the ABO blood group (ABO; MIM 110300) and GLT6D1, shows a complex evolution pattern, with multiple events of gain and loss in different mammal species. In humans, the ABO gene is considered the sole functional member, although the O allele is null and is fixed in certain populations (summary by Casals et al. (2009) [PubMed 19218399]).[supplied by OMIM, Jan 2011]
Canonical amino-acid sequenceUniProt
276 residues, UniProt reviewed canonical sequence.
>Q7Z4J2|GLT6D1
1 MNSKRMLLLV LFAFSLMLVE RYFRNHQVEE LRLSDWFHPR KRPDVITKTD WLAPVLWEGT
61 FDRRVLEKHY RRRNITVGLA VFATGRFAEE YLRPFLHSAN KHFMTGYRVI FYIMVDAFFK
121 LPDIEPSPLR TFKAFKVGTE RWWLDGPLVH VKSLGEHIAS HIQDEVDFLF SMAANQVFQN
181 EFGVETLGPL VAQLHAWWYF RNTKNFPYER RPTSAACIPF GQGDFYYGNL MVGGTPHNIL
241 DFIKEYLNGV IHDIKNGLNS TYEKHLNKYF YLNKPTLocalizationUniProt · AlphaFold · HPA
Whether an antibody against GLT6D1 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
- Intracellular
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.29
- Highest tissue expression
- 4.4 nTPM
Expression across tissuesHPA
Tissue
- testis: 4.4 nTPM
- epididymis: 0.1 nTPM
- adipose tissue: 0 nTPM
- adrenal gland: 0 nTPM
- amygdala: 0 nTPM
- appendix: 0 nTPM
Single-cell type
- early spermatids: 45 nCPM
- late spermatids: 15 nCPM
- endometrial glandular cells: 9.4 nCPM
- late primary spermatocytes: 6.9 nCPM
- cone photoreceptor cells: 2.1 nCPM
- differentiating spermatogonia: 1 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- midbrain: 0.8 nTPM
- cerebral cortex: 0.1 nTPM
- thalamus: 0.1 nTPM
- amygdala: 0 nTPM
- basal ganglia: 0 nTPM
- cerebellum: 0 nTPM
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)
- 1.17
- gnomAD pLI
- 0.12
- gnomAD missense Z
- -0.91
- DepMap mean gene effect
- 0
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% 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 GLT6D1 as an antibody target. Whether an autoantibody or antibody against GLT6D1 could matter depends on whether native GLT6D1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GLT6D1 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 GLT6D1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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