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Aliases for HS6ST1 Gene

Aliases for HS6ST1 Gene

  • Heparan Sulfate 6-O-Sulfotransferase 1 2 3 5
  • HS6ST-1 3 4
  • HS6ST 3 4
  • Heparan-Sulfate 6-Sulfotransferase 3
  • EC 2.8.2.- 4
  • EC 2.8.2 63
  • HH15 3

External Ids for HS6ST1 Gene

Previous HGNC Symbols for HS6ST1 Gene

  • HS6ST

Previous GeneCards Identifiers for HS6ST1 Gene

  • GC02M126324
  • GC02M126947
  • GC02M128929
  • GC02M129118
  • GC02M128741
  • GC02M121328

Summaries for HS6ST1 Gene

Entrez Gene Summary for HS6ST1 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]

GeneCards Summary for HS6ST1 Gene

HS6ST1 (Heparan Sulfate 6-O-Sulfotransferase 1) is a Protein Coding gene. Diseases associated with HS6ST1 include Hypogonadotropic Hypogonadism 15 With Or Without Anosmia and Hs6st1-Related Isolated Gonadotropin-Releasing Hormone Deficiency. Among its related pathways are heparan sulfate biosynthesis and Glycosaminoglycan metabolism. GO annotations related to this gene include sulfotransferase activity and heparan sulfate 6-O-sulfotransferase activity. An important paralog of this gene is HS6ST3.

UniProtKB/Swiss-Prot for HS6ST1 Gene

  • 6-O-sulfation enzyme which catalyzes the transfer of sulfate from 3-phosphoadenosine 5-phosphosulfate (PAPS) to position 6 of the N-sulfoglucosamine residue (GlcNS) of heparan sulfate. Critical for normal neuronal development where it may play a role in neuron branching. May also play a role in limb development. May prefer iduronic acid.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HS6ST1 Gene

Genomics for HS6ST1 Gene

Regulatory Elements for HS6ST1 Gene

Enhancers for HS6ST1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around HS6ST1 on UCSC Golden Path with GeneCards custom track

Promoters for HS6ST1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HS6ST1 on UCSC Golden Path with GeneCards custom track

Genomic Location for HS6ST1 Gene

Chromosome:
2
Start:
128,236,716 bp from pter
End:
128,318,597 bp from pter
Size:
81,882 bases
Orientation:
Minus strand

Genomic View for HS6ST1 Gene

Genes around HS6ST1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HS6ST1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HS6ST1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HS6ST1 Gene

Proteins for HS6ST1 Gene

  • Protein details for HS6ST1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60243-H6ST1_HUMAN
    Recommended name:
    Heparan-sulfate 6-O-sulfotransferase 1
    Protein Accession:
    O60243
    Secondary Accessions:
    • B4DEP2
    • B4DJ29
    • Q53SL2
    • Q9BVI1

    Protein attributes for HS6ST1 Gene

    Size:
    411 amino acids
    Molecular mass:
    48226 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAY14736.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA25760.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA25760.1; Type=Frameshift; Positions=5, 7; Evidence={ECO:0000305}; Sequence=BAG57153.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for HS6ST1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HS6ST1 Gene

Proteomics data for HS6ST1 Gene at MOPED

Post-translational modifications for HS6ST1 Gene

Other Protein References for HS6ST1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for HS6ST1 (Heparan Sulfate 6-O-Sulfotransferase 1/HS6ST1)

Domains & Families for HS6ST1 Gene

Gene Families for HS6ST1 Gene

Protein Domains for HS6ST1 Gene

Suggested Antigen Peptide Sequences for HS6ST1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O60243

UniProtKB/Swiss-Prot:

H6ST1_HUMAN :
  • Belongs to the sulfotransferase 6 family.
Family:
  • Belongs to the sulfotransferase 6 family.
genes like me logo Genes that share domains with HS6ST1: view

Function for HS6ST1 Gene

Molecular function for HS6ST1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
3-phosphoadenylyl sulfate + [heparan sulfate]-glucosamine = adenosine 3,5-bisphosphate + [heparan sulfate]-glucosamine 6-sulfate.
UniProtKB/Swiss-Prot Function:
6-O-sulfation enzyme which catalyzes the transfer of sulfate from 3-phosphoadenosine 5-phosphosulfate (PAPS) to position 6 of the N-sulfoglucosamine residue (GlcNS) of heparan sulfate. Critical for normal neuronal development where it may play a role in neuron branching. May also play a role in limb development. May prefer iduronic acid.

Enzyme Numbers (IUBMB) for HS6ST1 Gene

genes like me logo Genes that share phenotypes with HS6ST1: view

Human Phenotype Ontology for HS6ST1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HS6ST1 Gene

MGI Knock Outs for HS6ST1:

Animal Model Products

  • Taconic Biosciences Mouse Models for HS6ST1

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for HS6ST1 Gene

Localization for HS6ST1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HS6ST1 Gene

Membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HS6ST1 Gene COMPARTMENTS Subcellular localization image for HS6ST1 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 4
extracellular 3
nucleus 2
cytosol 1
lysosome 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for HS6ST1 Gene

Pathways & Interactions for HS6ST1 Gene

genes like me logo Genes that share pathways with HS6ST1: view

Interacting Proteins for HS6ST1 Gene

Gene Ontology (GO) - Biological Process for HS6ST1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006024 glycosaminoglycan biosynthetic process TAS --
GO:0015015 heparan sulfate proteoglycan biosynthetic process, enzymatic modification IEA --
GO:0030203 glycosaminoglycan metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
GO:0048286 lung alveolus development IEA --
genes like me logo Genes that share ontologies with HS6ST1: view

No data available for SIGNOR curated interactions for HS6ST1 Gene

Drugs & Compounds for HS6ST1 Gene

(4) Additional Compounds for HS6ST1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Adenosine 3',5'-diphosphate
  • 3'-Phosphoryl-AMP
  • 3,5-ADP
  • 3,5-Diphosphoadenosine
  • 3-Phosphoadenosine 5-phosphate
  • 5-(Dihydrogen phosphate) 3-Adenylate
1053-73-2
Phosphoadenosine phosphosulfate
  • 3'-Phospho-5'-adenylyl sulfate
  • 3'-Phospho-5'-adenylyl sulphate
  • 3'-Phosphoadenosine 5'-phosphosulfate
  • 3'-Phosphoadenosine 5'-phosphosulphate
  • 3'-Phosphoadenosine-5'-phosphosulfate
482-67-7
genes like me logo Genes that share compounds with HS6ST1: view

Transcripts for HS6ST1 Gene

Unigene Clusters for HS6ST1 Gene

Heparan sulfate 6-O-sulfotransferase 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HS6ST1 Gene

No ASD Table

Relevant External Links for HS6ST1 Gene

GeneLoc Exon Structure for
HS6ST1
ECgene alternative splicing isoforms for
HS6ST1

Expression for HS6ST1 Gene

mRNA expression in normal human tissues for HS6ST1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for HS6ST1 Gene

This gene is overexpressed in Plasma (65.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for HS6ST1 Gene



SOURCE GeneReport for Unigene cluster for HS6ST1 Gene Hs.512841

mRNA Expression by UniProt/SwissProt for HS6ST1 Gene

O60243-H6ST1_HUMAN
Tissue specificity: Expressed in fetal brain.
genes like me logo Genes that share expression patterns with HS6ST1: view

Protein tissue co-expression partners for HS6ST1 Gene

Primer Products

No data available for mRNA differential expression in normal tissues for HS6ST1 Gene

Orthologs for HS6ST1 Gene

This gene was present in the common ancestor of animals.

Orthologs for HS6ST1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HS6ST1 35
  • 93.59 (n)
  • 96.59 (a)
HS6ST1 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hs6st1 35
  • 91 (n)
  • 97.32 (a)
Hs6st1 16
Hs6st1 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HS6ST1 35
  • 99.43 (n)
  • 100 (a)
HS6ST1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hs6st1 35
  • 90.37 (n)
  • 97.26 (a)
dog
(Canis familiaris)
Mammalia HS6ST1 36
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HS6ST1 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HS6ST1 36
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves HS6ST1 35
  • 85.04 (n)
  • 90.27 (a)
HS6ST1 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HS6ST1 36
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hs6st1 35
  • 74.27 (n)
  • 84.21 (a)
zebrafish
(Danio rerio)
Actinopterygii hs6st1a 35
  • 75.17 (n)
  • 81.25 (a)
hs6st1b 36
  • 76 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001444 35
  • 64.22 (n)
  • 54.95 (a)
fruit fly
(Drosophila melanogaster)
Insecta Hs6st 35
  • 64.09 (n)
  • 56.49 (a)
Hs6st 36
  • 36 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hst-6 36
  • 39 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 32 (a)
OneToMany
Species with no ortholog for HS6ST1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HS6ST1 Gene

ENSEMBL:
Gene Tree for HS6ST1 (if available)
TreeFam:
Gene Tree for HS6ST1 (if available)

Paralogs for HS6ST1 Gene

Paralogs for HS6ST1 Gene

(2) SIMAP similar genes for HS6ST1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with HS6ST1: view

Variants for HS6ST1 Gene

Sequence variations from dbSNP and Humsavar for HS6ST1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
VAR_069283 Hypogonadotropic hypogonadism 15 with or without anosmia (HH15)
VAR_069284 Hypogonadotropic hypogonadism 15 with or without anosmia (HH15)
VAR_069285 Hypogonadotropic hypogonadism 15 with or without anosmia (HH15)
VAR_069286 Hypogonadotropic hypogonadism 15 with or without anosmia (HH15)
VAR_069287 Hypogonadotropic hypogonadism 15 with or without anosmia (HH15)

Structural Variations from Database of Genomic Variants (DGV) for HS6ST1 Gene

Variant ID Type Subtype PubMed ID
nsv875034 CNV Loss 21882294
nsv834368 CNV Loss 17160897
nsv516672 CNV Loss 19592680
dgv4302n71 CNV Loss 21882294
dgv4303n71 CNV Loss 21882294
dgv4304n71 CNV Loss 21882294
nsv459263 CNV Loss 19166990
esv272146 CNV Insertion 20981092
nsv821708 CNV Gain 20364138

Variation tolerance for HS6ST1 Gene

Residual Variation Intolerance Score: 78.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.21; 52.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HS6ST1 Gene

Human Gene Mutation Database (HGMD)
HS6ST1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HS6ST1 Gene

Disorders for HS6ST1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for HS6ST1 Gene - From: OMIM, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hypogonadotropic hypogonadism 15 with or without anosmia
  • hh15
hs6st1-related isolated gonadotropin-releasing hormone deficiency
  • hypogonadotropic hypogonadism 15 with or without anosmia
hypogonadism
kallmann syndrome
  • familial hypogonadism with anosmia
normosmic congenital hypogonadotropic hypogonadism
  • gonadotropic deficiency
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

H6ST1_HUMAN
  • Hypogonadotropic hypogonadism 15 with or without anosmia (HH15) [MIM:614880]: A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). {ECO:0000269 PubMed:21700882, ECO:0000269 PubMed:25077900}. Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry.

Relevant External Links for HS6ST1

Genetic Association Database (GAD)
HS6ST1
Human Genome Epidemiology (HuGE) Navigator
HS6ST1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HS6ST1
genes like me logo Genes that share disorders with HS6ST1: view

No data available for Genatlas for HS6ST1 Gene

Publications for HS6ST1 Gene

  1. Molecular characterization and expression of heparan-sulfate 6- sulfotransferase. (PMID: 9535912) Habuchi H. … Kimata K. (J. Biol. Chem. 1998) 2 3 4 23 67
  2. Biosynthesis of heparan sulphate with diverse structures and functions: two alternatively spliced forms of human heparan sulphate 6-O-sulphotransferase-2 having different expression patterns and properties. (PMID: 12492399) Habuchi H. … Kimata K. (Biochem. J. 2003) 3 23
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Heparan sulfotransferases Hs6st1 and Hs2st keep Erk in check for mouse corpus callosum development. (PMID: 24501377) Clegg J.M. … Pratt T. (J. Neurosci. 2014) 3
  5. Ovarian cancer cell heparan sulfate 6-O-sulfotransferases regulate an angiogenic program induced by heparin-binding epidermal growth factor (EGF)-like growth factor/EGF receptor signaling. (PMID: 24563483) Cole C.L. … Avizienyte E. (J. Biol. Chem. 2014) 3

Products for HS6ST1 Gene

Sources for HS6ST1 Gene

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