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Standards Ontologies Notations
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
Annotation information from UniProt.
Gene Ontology (GO)
Displaying all 5 entries
GO Term Evidence Code PMID
lung alveolus development
angiogenesis
labyrinthine layer blood vessel development
neuron development
heparan sulfate proteoglycan biosynthetic process, enzymatic modification
GO Hierarchy
Gene Ontology information from NCBI Gene and UniProt.
GlycoGene Database (GGDB)
GGDB ID
gg031
Gene Symbol
  • HS6ST1
Orthologous Gene
Displaying all 4 entries
Species Protein mRNA
Rattus norvegicus XP_237060 XM_237060
Drosophila melanogaster NP_524409 NM_079685
Caenorhabditis elegans NP_508895 NM_076494
Mus musculus NP_056633 NM_015818
KEGG BRITE Database
Orthology
K02514
Name
heparan sulfate 6-O-sulfotransferase HS6ST1 [EC:2.8.2.-]
References
Disease
Disease Ontology
Displaying entries 41 - 50 of 83 in total
DO ID Disease Name Source
DOID:11661 blue color blindness
DOID:11771 spontaneous ocular nystagmus
DOID:11832 visual epilepsy
DOID:12139 dysthymic disorder
DOID:12594 Potter's syndrome
DOID:12698 gynecomastia
DOID:12721 multiple epiphyseal dysplasia
DOID:12804 mucopolysaccharidosis IV
DOID:13174 dissociated nystagmus
DOID:13399 color blindness
The Human Phenotype Ontology
Displaying entries 51 - 60 of 71 in total
HPO ID HPO Term
HP:0003164 Hypothalamic gonadotropin-releasing hormone deficiency
HP:0003187 Breast hypoplasia
HP:0003782 Eunuchoid habitus
HP:0004349 Reduced bone mineral density
HP:0004409 Hyposmia
HP:0005280 Depressed nasal bridge
HP:0006610 Wide intermamillary distance
HP:0008064 Ichthyosis
HP:0008187 Absence of secondary sex characteristics
HP:0008197 Absence of pubertal development
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
PubChem Disease
MedGen Diseases
OMIM Phenotypes
KEGG Diseases
Gene-Disease-Co-Occurrences-in-Literature (PubChem)
Ortholog
Displaying entries 71 - 72 of 72 in total
Species Gene ID Alliance of Genome Resources Orthologous MAtrix
116448621 CORMO00875
115611468 STRHB11133
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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