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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
External Ids for HS6ST1 Gene
- HGNC: 5201
- Entrez Gene: 9394
- Ensembl: ENSG00000136720
- OMIM: 604846
- UniProtKB: O60243
Previous HGNC Symbols for HS6ST1 Gene
- HS6ST
Previous GeneCards Identifiers for HS6ST1 Gene
- GC02M126324
- GC02M126947
- GC02M128929
- GC02M129118
- GC02M128741
- GC02M121328
Summaries 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 Cytochrome P450 - arranged by substrate type and heparan sulfate biosynthesis. 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 HS6ST3.
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.
Additional gene information for HS6ST1 Gene
- HGNC(5201)
- Entrez Gene(9394)
- Ensembl(ENSG00000136720)
- OMIM(604846)
- UniProtKB(O60243)
- Open Targets Platform(ENSG00000136720)
- Monarch Initiative
- Search for HS6ST1 at DataMed
- Search for HS6ST1 at HumanCyc
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
- 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
Genomic Locations for HS6ST1 Gene
- chr2:128,236,716-128,318,868
- (GRCh38/hg38)
- Size:
- 82,153 bases
- Orientation:
- Minus strand
- chr2:128,994,290-129,076,171
- (GRCh37/hg19)
- 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:
-
- 2q14.3 by HGNC
- 2q14.3 by Entrez Gene
- 2q14.3 by Ensembl
HS6ST1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression 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
- N-glycosylated.
-
Glycosylation at Asn264 and Asn320
- NX_O60243 (NX_O60243-1)
- Modification sites at PhosphoSitePlus
Other Protein References for HS6ST1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for HS6ST1
- Novus Biologicals Antibodies for HS6ST1
-
Abcam antibodies for HS6ST1
- Invitrogen Antibodies for HS6ST1 (AFLGC-HS6ST1)
-
Biorbyt antibodies for HS6ST1
-
Santa Cruz Biotechnology (SCBT) Antibodies for HS6ST1
Protein Products
-
OriGene Purified Proteins for HS6ST1
- Search Origene for MassSpec and Protein Over-expression Lysates for HS6ST1
- Origene Custom Protein Services for HS6ST1
-
Abcam proteins for HS6ST1
Assay Products
- antibodies-online: Show 18 available HS6ST1 Elisa Kits ranked by validation data
- Compare Top HS6ST1 Elisa Kits
-
Quality Products:
-
Signalway ELISA kits for HS6ST1
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
- InterPro:
- ProtoNet:
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- Family:
-
- Belongs to the sulfotransferase 6 family.
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0008146 | sulfotransferase activity | TAS | 9535912 |
| GO:0016740 | transferase activity | IEA | -- |
| GO:0017095 | heparan sulfate 6-O-sulfotransferase activity | IBA | 21873635 |
Phenotypes for HS6ST1 Gene
- MGI mutant phenotypes for HS6ST1:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for HS6ST1:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased vaccinia virus (VACV) infection
- Negative genetic interaction between KRASG13D/+ and KRAS+/-
- shRNA abundance <= 25%
- Reduced mammosphere formation
- Upregulation of RLR pathway after Sendai virus (SeV) infection
- Increased shRNA abundance (Z-score > 2)
- Decreased viability in colon lineage
- Decreased shRNA abundance (Z-score < -2)
Animal Models for HS6ST1 Gene
- MGI Knock Outs for HS6ST1:
-
- Hs6st1 Hs6st1<tm1Kkm>
Animal Model Products
-
Taconic Biosciences Mouse Models for HS6ST1
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for HS6ST1 - Select products 50% OFF >
- * HS6ST1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for HS6ST1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HS6ST1
-
Santa Cruz Biotechnology (SCBT) CRISPR for HS6ST1
miRNA for HS6ST1 Gene
- miRTarBase miRNAs that target HS6ST1
-
- mmu-miR-15a-5p (MIRT011842)
- mmu-miR-9-5p (MIRT015439)
- hsa-miR-615-3p (MIRT040365)
- hsa-miR-7856-5p (MIRT574237)
- hsa-miR-3658 (MIRT574238)
- hsa-miR-3185 (MIRT574239)
- hsa-miR-3653-3p (MIRT574240)
- hsa-miR-5692a (MIRT574241)
- hsa-miR-1226-5p (MIRT736129)
- hsa-miR-1237-5p (MIRT736310)
- hsa-miR-1262 (MIRT736667)
- hsa-miR-1304-5p (MIRT737278)
- hsa-miR-3126-5p (MIRT740036)
- hsa-miR-3160-3p (MIRT740520)
- hsa-miR-4283 (MIRT743713)
- hsa-miR-4300 (MIRT743847)
- hsa-miR-4419a (MIRT744182)
- hsa-miR-4487 (MIRT745207)
- hsa-miR-4488 (MIRT745232)
- hsa-miR-4510 (MIRT745621)
- hsa-miR-4633-3p (MIRT746298)
- hsa-miR-4697-5p (MIRT747236)
- hsa-miR-4701-3p (MIRT747291)
- hsa-miR-4731-5p (MIRT747935)
- hsa-miR-4732-3p (MIRT747956)
- hsa-miR-4792 (MIRT748916)
- hsa-miR-548v (MIRT750807)
- hsa-miR-558 (MIRT751047)
- hsa-miR-5591-5p (MIRT751076)
- hsa-miR-5683 (MIRT751169)
- hsa-miR-6127 (MIRT752096)
- hsa-miR-6129 (MIRT752168)
- hsa-miR-6130 (MIRT752257)
- hsa-miR-6133 (MIRT752361)
- hsa-miR-637 (MIRT752689)
- hsa-miR-6500-5p (MIRT752881)
- hsa-miR-6726-5p (MIRT753919)
- hsa-miR-6734-5p (MIRT754139)
- hsa-miR-6736-5p (MIRT754210)
- hsa-miR-6834-5p (MIRT757162)
- hsa-miR-6846-5p (MIRT757437)
- hsa-miR-6848-5p (MIRT757511)
- hsa-miR-6875-5p (MIRT758111)
- hsa-miR-920 (MIRT760473)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for HS6ST1
- Browse OriGene Inhibitory RNA Products For HS6ST1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HS6ST1
Clone Products
- Applied Biological Materials (abm): Clones for HS6ST1 - Select products 50% OFF >
- * HS6ST1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for HS6ST1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HS6ST1
Cell Line Products
-
Horizon Cell Lines 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.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| golgi apparatus | 5 |
| plasma membrane | 4 |
| extracellular | 3 |
| cytoskeleton | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| cytosol | 1 |
| lysosome | 1 |
- Nuclear speckles (2)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | TAS | -- |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005887 | integral component of plasma membrane | TAS | 9535912 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for HS6ST1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Glycosaminoglycan metabolism | ||
| 2 | heparan sulfate biosynthesis | ||
| 3 | Articular Cartilage Extracellular Matrix | ||
| 4 | Metabolism |
.40
|
|
| 5 | Cytochrome P450 - arranged by substrate type | ||
Pathways by source for HS6ST1 Gene
3 BioSystems pathways for HS6ST1 Gene
5 Reactome pathways for HS6ST1 Gene
1 KEGG pathway for HS6ST1 Gene
1 R&D Systems pathway for HS6ST1 Gene
Interacting Proteins for HS6ST1 Gene
Selected Interacting proteins:
O60243-H6ST1_HUMAN
ENSP00000259241
for HS6ST1 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for HS6ST1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001525 | angiogenesis | IEA | -- |
| GO:0006024 | glycosaminoglycan biosynthetic process | TAS | -- |
| GO:0015012 | heparan sulfate proteoglycan biosynthetic process | IEA | -- |
| GO:0015015 | heparan sulfate proteoglycan biosynthetic process, enzymatic modification | TAS,IBA | 21873635 |
| GO:0048286 | lung alveolus development | IEA | -- |
No data available for SIGNOR curated interactions for HS6ST1 Gene
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 :
-
- ENST00000259241 4223 nts (view in UCSC)
- ENST00000463963 584 nts (view in UCSC)
- ENST00000469019 559 nts (view in UCSC)
- ENST00000494089 585 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for HS6ST1 - Select products 50% OFF >
- * HS6ST1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for HS6ST1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HS6ST1
-
Santa Cruz Biotechnology (SCBT) CRISPR for HS6ST1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for HS6ST1
- Browse OriGene Inhibitory RNA Products For HS6ST1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HS6ST1
Clone Products
- Applied Biological Materials (abm): Clones for HS6ST1 - Select products 50% OFF >
- * HS6ST1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for HS6ST1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HS6ST1
Relevant External Links for HS6ST1 Gene
- GeneLoc Exon Structure for
- HS6ST1
Expression for HS6ST1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
-
Limb (Muscoskeletal System)
- Mesenchymal Condensate Cells Zeugopod
- Zeugopod
- Bone (Muscoskeletal System)
- Gut Tube (Gastrointestinal Tract)
-
Cartilage (Muscoskeletal System)
- Mesenchymal Condensate Cells Zeugopod
- Lower Urinary Tract (Urinary System)
- Kidney (Urinary System)
- Thymus (Hematopoietic System)
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HS6ST1
SOURCE GeneReport for Unigene cluster for HS6ST1 Gene:
Hs.512841mRNA 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)
- Liver(2.4)
- Kidney(2.3)
- Skin(2.2)
- Heart(2.2)
- Lung(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
Primer Products
-
OriGene qPCR primer pairs for HS6ST1
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Dog (Canis familiaris) |
Mammalia | HS6ST1 31 |
|
OneToOne | |
| Chimpanzee (Pan troglodytes) |
Mammalia | HS6ST1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | HS6ST1 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Hs6st1 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | HS6ST1 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Hs6st1 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | HS6ST1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | HS6ST1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | HS6ST1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | hs6st1 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | hs6st1b 31 |
|
OneToOne | |
| hs6st1a 30 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001444 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Hs6st 30 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | hst-6 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
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
Paralogs for HS6ST1 Gene
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 |
|---|---|---|---|---|---|
| 770340 | Benign/Likely Benign: Hypogonadotropic hypogonadism 7 with or without anosmia; not provided | 128,268,653(-) | G/T | MISSENSE_VARIANT | |
| 801750 | Likely Benign: Hypogonadotropic hypogonadism 7 with or without anosmia | 128,268,286(-) | C/T | MISSENSE_VARIANT | |
| 801751 | Likely Benign: Hypogonadotropic hypogonadism 7 with or without anosmia | 128,318,303(-) | G/T | MISSENSE_VARIANT | |
| rs199538589 | Conflicting Interpretations: Hypogonadotropic hypogonadism 7 with or without anosmia; not specified. Hypogonadotropic hypogonadism 15 with or without anosmia (HH15) [MIM:614880] | 128,268,254(-) | G/Ap.Arg382Trp | MISSENSE_VARIANT | |
| rs200268730 | Hypogonadotropic hypogonadism 15 with or without anosmia (HH15) [MIM:614880] | p.Pro218Ser |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HS6ST1 Gene
Disorders for HS6ST1 Gene
(13) MalaCards diseases for HS6ST1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hypogonadotropic hypogonadism 15 with or without anosmia |
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| kallmann syndrome |
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| normosmic congenital hypogonadotropic hypogonadism |
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| hypogonadism |
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| hypogonadotropic hypogonadism |
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Search HS6ST1 in MalaCards
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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.
Additional Disease Information for HS6ST1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
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No data available for Genatlas for HS6ST1 Gene
Publications for HS6ST1 Gene
- 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 23
- 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
- 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 41
- Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4
- 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
ExternalLinks
Products for HS6ST1 Gene
- View all 3 R&D Systems HS6ST1 (Heparan Sulfate 6-O-Sulfotransferase 1/HS6ST1) Products
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Sources for HS6ST1 Gene
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