HS2ST1

Protein identityUniProt · HPA

UniProt accession

Q7LGA3

Gene

HS2ST1

Ensembl

ENSG00000153936

Chromosome

1

Canonical length

356 aa

Protein class

Disease related genes, Metabolic proteins, Predicted intracellular proteins

Subcellular location

Mitochondria

Quaternary structure

Homotrimer

OverviewNCBI Gene

Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. This gene encodes a member of the heparan sulfate biosynthetic enzyme family that transfers sulfate to the 2 position of the iduronic acid residue of heparan sulfate. The disruption of this gene resulted in no kidney formation in knockout embryonic mice, indicating that the absence of this enzyme may interfere with the signaling required for kidney formation. Two alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Aug 2008]

Canonical amino-acid sequenceUniProt

356 residues, UniProt reviewed canonical sequence.

>Q7LGA3|HS2ST1
     1  MGLLRIMMPP KLQLLAVVAF AVAMLFLENQ IQKLEESRSK LERAIARHEV REIEQRHTMD
    61  GPRQDATLDE EEDMVIIYNR VPKTASTSFT NIAYDLCAKN KYHVLHINTT KNNPVMSLQD
   121  QVRFVKNITS WKEMKPGFYH GHVSYLDFAK FGVKKKPIYI NVIRDPIERL VSYYYFLRFG
   181  DDYRPGLRRR KQGDKKTFDE CVAEGGSDCA PEKLWLQIPF FCGHSSECWN VGSRWAMDQA
   241  KYNLINEYFL VGVTEELEDF IMLLEAALPR FFRGATELYR TGKKSHLRKT TEKKLPTKQT
   301  IAKLQQSDIW KMENEFYEFA LEQFQFIRAH AVREKDGDLY ILAQNFFYEK IYPKSN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HS2ST1 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)

0.33

Highest tissue expression

22 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HS2ST1.

Disease | AllUniProt

Conditions HS2ST1 is implicated in, by any mechanism.

• Neurofacioskeletal syndrome with or without renal agenesis (NFSRA) MIM:619194

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 69 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Neurofacioskeletal syndrome with or without renal agenesis
• NEUROFACIOSKELETAL SYNDROME WITHOUT RENAL AGENESIS

Disease | ImmuneIEDB

Conditions an epitope on HS2ST1 was assayed in.

• glioblastoma T cell

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)

0.47

gnomAD pLI

0.54

gnomAD missense Z

1.51

DepMap mean gene effect

-0.15

DepMap dependency class

selective

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

• gene expression
• heparan sulfate proteoglycan biosynthetic process
• heparin proteoglycan metabolic process
• ureteric bud formation

Molecular functions

• heparan sulfate 2-sulfotransferase activity

Cellular components

• Golgi membrane
• membrane

Protein domainsUniProt · Pfam · InterPro

• Sulfotransferase
• Heparan sulphate 2-O-sulfotransferase
• P-loop containing nucleoside triphosphate hydrolase
• Sulfotransferase family

KeywordsUniProt

• Coiled coil
• Disulfide bond
• Glycoprotein
• Golgi apparatus
• Intellectual disability
• Membrane
• Signal-anchor
• Transferase
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of HS2ST1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• GLCE