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
OrthoDB (Group)
Group level
Eukaryota
Group Name
heparan sulfate 6-O-sulfotransferase
Functional Category
  • G: Carbohydrate transport and metabolism
  • H: Coenzyme transport and metabolism
  • M: Cell wall/membrane/envelope biogenesis
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 1 entry
DO ID Disease Name Source
DOID:0090075 hypogonadotropic hypogonadism 15 with or without anosmia
The Human Phenotype Ontology
Displaying entries 61 - 70 of 71 in total
HPO ID HPO Term
HP:0008527 Congenital sensorineural hearing impairment
HP:0008724 Hypoplasia of the ovary
HP:0008734 Decreased testicular size
HP:0008736 Hypoplasia of penis
HP:0009804 Tooth agenesis
HP:0010550 Paraplegia
HP:0011961 Non-obstructive azoospermia
HP:0012385 Camptodactyly
HP:0012506 Small pituitary gland
HP:0030680 Abnormal cardiovascular system morphology
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
Ortholog
Displaying entries 71 - 73 of 73 in total
Species Gene ID OrthoDB Alliance of Genome Resources Orthologous MAtrix
122228763 PANLE10922
123779490 URSAM26846
129031685 9600_0:000d0d

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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