heparan sulfate 6-O-sulfotransferase 1

Summary
Gene Symbol
  • HS6ST1
Organism
Homo sapiens (human)
External Links
NCBI Gene
9394
GGDB ID
HGNC
5201
mRNA
map
  • 2q21
Protein
OMIM
KEGG Gene ID
hsa:9394
PubChem
9394
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Coiled coil
  • Disease variant
  • Glycoprotein
  • Hypogonadotropic hypogonadism
  • Kallmann syndrome
  • Reference proteome
  • Signal-anchor
  • Transferase
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
O60243
Gene Ontology (GO)
GO Hierarchy
GlycoGene Database (GGDB)
GGDB ID
gg031
Gene Symbol
  • HS6ST1
Orthologous Gene
KEGG BRITE Database
Orthology
K02514
Name
heparan sulfate 6-O-sulfotransferase HS6ST1 [EC:2.8.2.-]
References
Disease
Disease Ontology
Displaying entries 21 - 30 of 83 in total
DO ID Disease Name Source
DOID:0090079 hypogonadotropic hypogonadism 17 with or without anosmia
DOID:0090080 hypogonadotropic hypogonadism 16 with or without anosmia
DOID:0090081 hypogonadotropic hypogonadism 22 with or without anosmia
DOID:0090082 hypogonadotropic hypogonadism 20 with or without anosmia
DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia
DOID:0090084 hypogonadotropic hypogonadism 5 with or without anosmia
DOID:0090085 hypogonadotropic hypogonadism 9 with or without anosmia
DOID:0090086 hypogonadotropic hypogonadism 6 with or without anosmia
DOID:0090087 hypogonadotropic hypogonadism 14 with or without anosmia
DOID:0090089 hypogonadotropic hypogonadism 10 with or without anosmia
The Human Phenotype Ontology
Displaying entries 1 - 10 of 71 in total
HPO ID HPO Term
HP:0000002 Abnormality of body height
HP:0000006 Autosomal dominant inheritance
HP:0000008 Abnormal morphology of female internal genitalia
HP:0000013 Hypoplasia of the uterus
HP:0000026 Male hypogonadism
HP:0000027 Azoospermia
HP:0000028 Cryptorchidism
HP:0000044 Hypogonadotropic hypogonadism
HP:0000054 Micropenis
HP:0000104 Renal agenesis
Displaying all 3 entries
Disease ID Disease Name
ORPHA:478
  • Kallmann syndrome
ORPHA:432
  • hypogonadotropic hypogonadism
OMIM:614880
  • hypogonadotropic hypogonadism 15 with or without anosmia

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024