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 81 - 83 of 83 in total
DO ID Disease Name Source
DOID:9649 congenital nystagmus
DOID:9650 pathologic nystagmus
DOID:9970 obesity
The Human Phenotype Ontology
Displaying entries 41 - 50 of 71 in total
HPO ID HPO Term
HP:0001513 Obesity
HP:0001608 Abnormality of the voice
HP:0001761 Pes cavus
HP:0001763 Pes planus
HP:0002231 Sparse body hair
HP:0002652 Skeletal dysplasia
HP:0002750 Delayed skeletal maturation
HP:0002757 Recurrent fractures
HP:0002761 Generalized joint hypermobility
HP:0002857 Genu valgum
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