HS6ST1
Heparan-sulfate 6-O-sulfotransferase 1
Also known as: H6ST1_HUMAN, HS6ST
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O60243
- Gene
- HS6ST1
- Ensembl
- ENSG00000136720
- Chromosome
- 2
- Canonical length
- 411 aa
- Protein class
- Disease related genes, Human disease related genes, Metabolic proteins, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
OverviewNCBI Gene
The protein encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biological activities. This enzyme is a type II integral membrane protein and is responsible for 6-O-sulfation of heparan sulfate. This enzyme does not share significant sequence similarity with other known sulfotransferases. A pseudogene located on chromosome 1 has been found for this gene. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
411 residues, UniProt reviewed canonical sequence.
>O60243|HS6ST1
1 MRRRRAGGRT MVERASKFVL VVAGSVCFML ILYQYAGPGL SLGAPGGRAP PDDLDLFPTP
61 DPHYEKKYYF PVRELERSLR FDMKGDDVIV FLHIQKTGGT TFGRHLVQNV RLEVPCDCRP
121 GQKKCTCYRP NRRETWLFSR FSTGWSCGLH ADWTELTNCV PGVLDRRDSA ALRTPRKFYY
181 ITLLRDPVSR YLSEWRHVQR GATWKTSLHM CDGRTPTPEE LPPCYEGTDW SGCTLQEFMD
241 CPYNLANNRQ VRMLADLSLV GCYNLSFIPE GKRAQLLLES AKKNLRGMAF FGLTEFQRKT
301 QYLFERTFNL KFIRPFMQYN STRAGGVEVD EDTIRRIEEL NDLDMQLYDY AKDLFQQRYQ
361 YKRQLERREQ RLRSREERLL HRAKEALPRE DADEPGRVPT EDYMSHIIEK WLocalizationUniProt · AlphaFold · HPA
Whether an antibody against HS6ST1 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
- Cell surface
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.34
- Highest tissue expression
- 64 nTPM
Expression across tissuesHPA
Tissue
- kidney: 64 nTPM
- cerebral cortex: 64 nTPM
- adrenal gland: 56 nTPM
- liver: 41 nTPM
- skeletal muscle: 32 nTPM
- amygdala: 32 nTPM
Single-cell type
- renal collecting duct principal cells: 242 nCPM
- mast cells: 213 nCPM
- cone photoreceptor cells: 159 nCPM
- salivary basal cells: 120 nCPM
- renal connecting tubule cells: 103 nCPM
- rod photoreceptor cells: 100 nCPM
Immune cell
- basophil: 3.1 nTPM
- plasmacytoid DC: 2.3 nTPM
- non-classical monocyte: 1.5 nTPM
- gdT-cell: 1 nTPM
- classical monocyte: 0.7 nTPM
- memory B-cell: 0.7 nTPM
Brain region
- cerebral cortex: 95 nTPM
- thalamus: 87 nTPM
- amygdala: 77 nTPM
- midbrain: 76 nTPM
- pons: 71 nTPM
- medulla oblongata: 69 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about HS6ST1.
Disease | AllUniProt
Conditions HS6ST1 is implicated in, by any mechanism.
- Hypogonadotropic hypogonadism 15 with or without anosmia (HH15) MIM:614880
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)
- 0.38
- gnomAD pLI
- 0.92
- gnomAD missense Z
- 1.92
- DepMap mean gene effect
- -0.43
- 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
Biological processes
- angiogenesis
- heparan sulfate proteoglycan biosynthetic process
- labyrinthine layer blood vessel development
- lung alveolus development
- neuron development
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads HS6ST1 as an antibody target. Whether an autoantibody or antibody against HS6ST1 could matter depends on whether native HS6ST1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
HS6ST1 is annotated at the cell surface, where native HS6ST1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label HS6ST1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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