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 1 - 10 of 83 in total
DO ID Disease Name Source
DOID:11836 clubfoot
DOID:0050156 idiopathic pulmonary fibrosis
DOID:0060260 ptosis
DOID:0060261 congenital ptosis
DOID:0060857 septooptic dysplasia
DOID:0060870 isolated growth hormone deficiency
DOID:0060872 isolated growth hormone deficiency type II
DOID:0060873 isolated growth hormone deficiency type IA
DOID:0060874 isolated growth hormone deficiency type IB
DOID:0060875 isolated growth hormone deficiency type III
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