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 e... See more...

Aliases for HS6ST1 Gene

Aliases for HS6ST1 Gene

  • Heparan Sulfate 6-O-Sulfotransferase 1 2 3 5
  • Heparan-Sulfate 6-O-Sulfotransferase 1 3 4
  • HS6ST-1 3 4
  • HS6ST 3 4
  • Heparan-Sulfate 6-Sulfotransferase 3
  • EC 2.8.2.- 4
  • EC 2.8.2 50
  • HS6ST1 5
  • 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 Kallmann Syndrome. Among its related pathways are heparan sulfate biosynthesis and Glycosaminoglycan metabolism. Gene Ontology (GO) annotations related to this gene include sulfotransferase activity and heparan sulfate 6-O-sulfotransferase activity. An important paralog of this gene is HS6ST2.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HS6ST1 Gene

Genomics for HS6ST1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HS6ST1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J128316 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 256.2 +0.9 867 4 SP1 SSRP1 ZIC2 MXD4 NONO CHD2 ZNF341 KMT2B THAP11 FOXA2 HS6ST1 HSALNG0018681-001 lnc-HS6ST1-3 UGGT1
GH02J128321 Promoter/Enhancer 2 Ensembl ENCODE CraniofacialAtlas dbSUPER 7.5 -3.1 -3127 2.8 BCLAF1 SP1 ZNF207 IKZF1 POLR2A ZIC2 MXD4 NONO CTCF REST HS6ST1 HSALNG0018681-001 lnc-UGGT1-6
GH02J128286 Enhancer 0.7 Ensembl ENCODE dbSUPER 18.5 +32.0 32026 1.9 RXRA RBM22 NR2F2 HS6ST1 lnc-SAP130-1 lnc-SAP130-3 lnc-HS6ST1-3 UGGT1
GH02J128299 Enhancer 1.6 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 7.5 +13.4 13414 12.5 IKZF1 ZNF600 NCOR1 SSRP1 JUND ZMYM3 KLF9 CEBPA ZNF223 ATF3 WDR33 AMMECR1L ENSG00000231731 MAP3K2 SAP130 UGGT1 HS6ST1 GPR17 lnc-SAP130-2 HSALNG0018681-001
GH02J128526 Enhancer 0.4 Ensembl 16.7 -207.5 -207533 1.6 ZIC2 MYC MAX GLIS1 HS6ST1 ISCA1P6 RF00017-2986 LOC105373611 HSALNG0018681-002 HSALNG0018681-001
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HS6ST1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HS6ST1

Top Transcription factor binding sites by QIAGEN in the HS6ST1 gene promoter:
  • AhR
  • AREB6
  • Arnt
  • C/EBPalpha
  • CREB
  • deltaCREB
  • HEN1
  • MIF-1
  • POU3F1
  • SRY

Genomic Locations for HS6ST1 Gene

Latest Assembly
chr2:128,236,716-128,318,868
(GRCh38/hg38)
Size:
82,153 bases
Orientation:
Minus strand

Previous Assembly
chr2:129,023,054-129,076,442
(GRCh37/hg19 by Entrez Gene)
Size:
53,389 bases
Orientation:
Minus strand

chr2:128,994,290-129,076,151
(GRCh37/hg19 by Ensembl)
Size:
81,862 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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAA25760.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAA25760.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAG57153.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for HS6ST1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HS6ST1 Gene

Selected DME Specific Peptides for HS6ST1 Gene

O60243:
  • LLESAKKNL
  • HVQRGATWKTSLHMCDGR
  • QYNSTRA
  • KKYYFPVRELER
  • LFERTFNLKFI
  • WLFSRFSTGWSCGLHADWTELTNCVP
  • GPGLSLGAP
  • GQKKCTC
  • LRDPVSRYLSEW
  • IVFLHIQKTGGTTFGRHLV
  • MAFFGLTE
  • DLFQQRY
  • RYLSEWRHVQRGATWK

Post-translational modifications for HS6ST1 Gene

Other Protein References for HS6ST1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for HS6ST1 Gene

Gene Families for HS6ST1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for HS6ST1 Gene

Suggested Antigen Peptide Sequences for HS6ST1 Gene

GenScript: Design optimal peptide antigens:
  • Heparan-sulfate 6-O-sulfotransferase 1 (H6ST1_HUMAN)

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 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3'-phosphoadenylyl sulfate + alpha-D-glucosaminyl-[heparan sulfate](n) = 6-sulfo-alpha-D-glucosaminyl-[heparan sulfate](n) + adenosine 3',5'-bisphosphate + H(+); Xref=Rhea:RHEA:56604, Rhea:RHEA-COMP:9830, Rhea:RHEA-COMP:14621, ChEBI:CHEBI:15378, ChEBI:CHEBI:58339, ChEBI:CHEBI:58343, ChEBI:CHEBI:58388, ChEBI:CHEBI:140604;.

Enzyme Numbers (IUBMB) for HS6ST1 Gene

Phenotypes From GWAS Catalog for HS6ST1 Gene

Gene Ontology (GO) - Molecular Function for HS6ST1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
GO:0008146 sulfotransferase activity TAS 9535912
GO:0016740 transferase activity IEA --
GO:0017095 heparan sulfate 6-O-sulfotransferase activity IBA 21873635
genes like me logo Genes that share ontologies with HS6ST1: view
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 Models for research

  • Taconic Biosciences Mouse Models for HS6ST1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HS6ST1

No data available for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HS6ST1 gene
Compartment Confidence
nucleus 5
golgi apparatus 5
plasma membrane 4
extracellular 3
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

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:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with HS6ST1: view

Pathways & Interactions for HS6ST1 Gene

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

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 TAS,IBA 21873635
GO:0048666 neuron development IMP 21700882
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

(3) Drugs for HS6ST1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
3'-phospho-5'-adenylyl sulfate Experimental Pharma 0
Adenosine 3',5'-diphosphate Experimental Pharma 0

(1) Additional Compounds for HS6ST1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with HS6ST1: view

Transcripts for HS6ST1 Gene

mRNA/cDNA for HS6ST1 Gene

1 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HS6ST1

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

No ASD Table

Relevant External Links for HS6ST1 Gene

GeneLoc Exon Structure for
HS6ST1

Expression for HS6ST1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for HS6ST1 Gene



Protein tissue co-expression partners for HS6ST1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HS6ST1

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.

Evidence on tissue expression from TISSUES for HS6ST1 Gene

  • Nervous system(4.8)
  • Eye(4.4)
  • Kidney(2.2)
  • Liver(2.2)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HS6ST1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • face
  • head
  • hypothalamus
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • olfactory bulb
  • pharynx
  • pituitary gland
  • skull
  • vocal cord
Thorax:
  • breast
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
Pelvis:
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with HS6ST1: view

Primer products for research

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
Dog
(Canis familiaris)
Mammalia HS6ST1 30
  • 100 (a)
OneToOne
Chimpanzee
(Pan troglodytes)
Mammalia HS6ST1 29 30
  • 99.43 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia HS6ST1 29 30
  • 93.59 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Hs6st1 29 16 30
  • 91 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia HS6ST1 30
  • 91 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Hs6st1 29
  • 90.37 (n)
Oppossum
(Monodelphis domestica)
Mammalia HS6ST1 30
  • 87 (a)
OneToOne
Chicken
(Gallus gallus)
Aves HS6ST1 29 30
  • 85.04 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia HS6ST1 30
  • 85 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia hs6st1 29
  • 74.27 (n)
Zebrafish
(Danio rerio)
Actinopterygii hs6st1b 30
  • 76 (a)
OneToOne
hs6st1a 29
  • 75.17 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001444 29
  • 64.22 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Hs6st 29 30
  • 64.09 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea hst-6 30
  • 39 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 32 (a)
OneToMany
Species where no ortholog for HS6ST1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for HS6ST1: view image
Alliance of Genome Resources:
Additional Orthologs for HS6ST1

Paralogs for HS6ST1 Gene

Paralogs for HS6ST1 Gene

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

  • H6ST1_HUMAN
genes like me logo Genes that share paralogs with HS6ST1: view

Variants for HS6ST1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HS6ST1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
930865 Uncertain Significance: Hypogonadotropic hypogonadism 15 with or without anosmia 128,268,443(-) A/T
NM_004807.3(HS6ST1):c.955T>A (p.Tyr319Asn)
MISSENSE
rs147436494 Likely Benign: Hypogonadotropic hypogonadism 7 with or without anosmia 128,268,286(-) C/T
NM_004807.3(HS6ST1):c.1112G>A (p.Arg371His)
MISSENSE
rs199538589 Conflicting Interpretations: Hypogonadotropic hypogonadism 7 with or without anosmia; Hypogonadotropic hypogonadism 15 with or without anosmia; not specified. Hypogonadotropic hypogonadism 15 with or without anosmia (HH15) [MIM:614880] 128,268,254(-) G/Ap.Arg382Trp
NM_004807.3(HS6ST1):c.1144C>T (p.Arg382Trp)
MISSENSE
rs200268730 Hypogonadotropic hypogonadism 15 with or without anosmia (HH15) [MIM:614880] p.Pro218Ser
rs200979099 Likely Benign: Hypogonadotropic hypogonadism 7 with or without anosmia 128,318,303(-) G/T
NM_004807.3(HS6ST1):c.261C>A (p.Asp87Glu)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for HS6ST1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
esv3307872 CNV mobile element insertion 20981092
esv3326024 CNV insertion 20981092
esv3592380 CNV gain 21293372
esv3592381 CNV gain 21293372
esv3592382 CNV loss 21293372
esv3592383 CNV gain 21293372
esv3592384 CNV gain 21293372
esv3592386 CNV gain 21293372
nsv459263 CNV loss 19166990
nsv516672 CNV loss 19592680
nsv583039 CNV loss 21841781
nsv583040 CNV gain 21841781
nsv583041 CNV loss 21841781
nsv821708 CNV gain 20364138
nsv834368 CNV loss 17160897

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)

Additional Variant Information for HS6ST1 Gene

Human Gene Mutation Database (HGMD)
HS6ST1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HS6ST1
Leiden Open Variation Database (LOVD)
HS6ST1

SNP Genotyping and Copy Number Assays for research

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

Disorders for HS6ST1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for HS6ST1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
hypogonadotropic hypogonadism 15 with or without anosmia
  • hh15
kallmann syndrome
  • familial hypogonadism with anosmia
normosmic congenital hypogonadotropic hypogonadism
  • normosmic idiopathic hypogonadotropic hypogonadism
hypogonadism
hypogonadotropic hypogonadism
  • congenital idiopathic hypogonadotropic hypogonadism
- 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 variants affecting distinct genetic loci, including the gene represented in this entry.

Additional Disease Information for HS6ST1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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. Complete cDNA cloning in human and partial cloning in Chinese hamster ovary cells. (PMID: 9535912) Habuchi H … Kimata K (The Journal of biological chemistry 1998) 2 3 4 22
  2. Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism. (PMID: 21700882) Tornberg J … Bülow HE (Proceedings of the National Academy of Sciences of the United States of America 2011) 3 4 72
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for HS6ST1 Gene

Sources for HS6ST1 Gene