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Aliases for HS6ST1 Gene

Aliases for HS6ST1 Gene

  • Heparan Sulfate 6-O-Sulfotransferase 1 2 3
  • HS6ST 3 4 6
  • HS6ST-1 3 4
  • HH15 3 6
  • Heparan-Sulfate 6-O-Sulfotransferase 1 3
  • Heparan-Sulfate 6-Sulfotransferase 3
  • EC 2.8.2.- 4
  • EC 2.8.2 64

External Ids for HS6ST1 Gene

Previous Symbols for HS6ST1 Gene

  • HS6ST

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 kallmann syndrome. Among its related pathways are Disease and Metabolism. GO annotations related to this gene include 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

Genomic Location for HS6ST1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HS6ST1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HS6ST1 Gene

Regulatory Elements 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:
Reactome Protein details:
REFSEQ proteins:

Domains for HS6ST1 Gene

Gene Families for HS6ST1 Gene

HGNC:
  • SULTM :Sulfotransferases, membrane-bound

Protein Domains for HS6ST1 Gene

UniProtKB/Swiss-Prot:

H6ST1_HUMAN
Family:
  • Belongs to the sulfotransferase 6 family.:
    • O60243
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

Gene Ontology (GO) - Molecular Function for HS6ST1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008146 sulfotransferase activity TAS 9535912
GO:0017095 heparan sulfate 6-O-sulfotransferase activity IEA --
genes like me logo Genes that share ontologies with HS6ST1: view
genes like me logo Genes that share phenotypes with HS6ST1: view

Animal Models for HS6ST1 Gene

MGI Knock Outs for HS6ST1:

miRNA for HS6ST1 Gene

miRTarBase miRNAs that target HS6ST1

No data available for Transcription Factor Targeting 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 4
plasma membrane 4
extracellular 3
cytosol 1
lysosome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for HS6ST1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005887 integral component of plasma membrane TAS 9535912
GO:0016021 integral component of membrane --
genes like me logo Genes that share ontologies with HS6ST1: view

Pathways 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:0001525 angiogenesis IEA --
GO:0005975 carbohydrate metabolic process TAS --
GO:0006024 glycosaminoglycan biosynthetic process TAS --
GO:0015012 heparan sulfate proteoglycan biosynthetic process --
GO:0015015 heparan sulfate proteoglycan biosynthetic process, enzymatic modification IEA --
genes like me logo Genes that share ontologies with HS6ST1: view

Compounds for HS6ST1 Gene

(1) HMDB Compounds for HS6ST1 Gene

Compound Synonyms Cas Number PubMed IDs
Phosphoadenosine phosphosulfate
  • 3'-Phospho-5'-adenylyl sulfate
482-67-7

(2) Novoseek inferred chemical compound relationships for HS6ST1 Gene

Compound -log(P) Hits PubMed IDs
heparan sulfate 82.7 9
sulfate 52 2
genes like me logo Genes that share compounds with HS6ST1: view

Transcripts for HS6ST1 Gene

mRNA/cDNA 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

Integrated Proteomics: protein expression 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 expressions with HS6ST1: view

Orthologs for HS6ST1 Gene

This gene was present in the common ancestor of animals.

Orthologs for HS6ST1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HS6ST1 36
  • 99.43 (n)
  • 100 (a)
HS6ST1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HS6ST1 36
  • 93.59 (n)
  • 96.59 (a)
HS6ST1 37
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HS6ST1 37
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hs6st1 36
  • 91 (n)
  • 97.32 (a)
Hs6st1 16
Hs6st1 37
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HS6ST1 37
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HS6ST1 37
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hs6st1 36
  • 90.37 (n)
  • 97.26 (a)
chicken
(Gallus gallus)
Aves HS6ST1 36
  • 85.04 (n)
  • 90.27 (a)
HS6ST1 37
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HS6ST1 37
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hs6st1 36
  • 74.27 (n)
  • 84.21 (a)
zebrafish
(Danio rerio)
Actinopterygii hs6st1a 36
  • 75.17 (n)
  • 81.25 (a)
hs6st1b 37
  • 76 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001444 36
  • 64.22 (n)
  • 54.95 (a)
fruit fly
(Drosophila melanogaster)
Insecta Hs6st 36
  • 64.09 (n)
  • 56.49 (a)
Hs6st 37
  • 36 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hst-6 37
  • 39 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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

Selected 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 MAF
rs705050 -- 128,305,493(+) GGGGC(C/T)GAGCC intron-variant
rs705051 -- 128,319,517(-) TATTC(C/T)TTTCA upstream-variant-2KB
rs714129 -- 128,303,878(-) tctca(A/G)tccac intron-variant
rs734192 -- 128,269,919(-) GTCCC(C/T)CCATG intron-variant
rs734193 -- 128,269,661(-) GCCTC(C/T)CCCGG intron-variant

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

Relevant External Links for HS6ST1 Gene

HapMap Linkage Disequilibrium report
HS6ST1
Human Gene Mutation Database (HGMD)
HS6ST1

Disorders for HS6ST1 Gene

(1) OMIM Diseases for HS6ST1 Gene (604846)

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

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
  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 status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 3 4
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 49

Products for HS6ST1 Gene

Sources for HS6ST1 Gene

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