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HS2ST1 heparan sulfate 2-O-sulfotransferase 1 [ Homo sapiens (human) ]

Gene ID: 9653, updated on 7-Jun-2020

Summary

Official Symbol
HS2ST1provided by HGNC
Official Full Name
heparan sulfate 2-O-sulfotransferase 1provided by HGNC
Primary source
HGNC:HGNC:5193
See related
Ensembl:ENSG00000153936 MIM:604844
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
dJ604K5.2
Summary
Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. This gene encodes a member of the heparan sulfate biosynthetic enzyme family that transfers sulfate to the 2 position of the iduronic acid residue of heparan sulfate. The disruption of this gene resulted in no kidney formation in knockout embryonic mice, indicating that the absence of this enzyme may interfere with the signaling required for kidney formation. Two alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Aug 2008]
Expression
Ubiquitous expression in adrenal (RPKM 13.4), thyroid (RPKM 7.8) and 25 other tissues See more
Orthologs

Genomic context

See HS2ST1 in Genome Data Viewer
Location:
1p22.3
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (86914635..87109982)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (87380335..87575681)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378831 Neighboring gene selenoprotein F Neighboring gene ubiquitin like modifier activating enzyme 2 pseudogene Neighboring gene ubiquitin like modifier activating enzyme 2 pseudogene Neighboring gene long intergenic non-protein coding RNA 1140 Neighboring gene long intergenic non-protein coding RNA 2801

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ11317, KIAA0448, MGC131986

Gene Ontology Provided by GOA

Function Evidence Code Pubs
heparan sulfate 2-O-sulfotransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
heparan sulfate 2-O-sulfotransferase activity TAS
Traceable Author Statement
more info
 
sulfotransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Golgi membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 

General protein information

Preferred Names
heparan sulfate 2-O-sulfotransferase 1
Names
2-O-sulfotransferase
2OST
NP_001127964.1
NP_036394.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001134492.2NP_001127964.1  heparan sulfate 2-O-sulfotransferase 1 isoform 2

    See identical proteins and their annotated locations for NP_001127964.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses a different splice site in the 3' coding region and lacks some coding region segments, compared to variant 1. The resulting protein (isoform 2) has a shorter C-terminus when it is compared to isoform 1.
    Source sequence(s)
    AC093155, AL121989, BC025384, BC108735
    Consensus CDS
    CCDS44171.1
    UniProtKB/Swiss-Prot
    Q7LGA3
    Related
    ENSP00000359582.3, ENST00000370551.8
    Conserved Domains (1) summary
    pfam03567
    Location:71224
    Sulfotransfer_2; Sulfotransferase family
  2. NM_012262.4NP_036394.1  heparan sulfate 2-O-sulfotransferase 1 isoform 1

    See identical proteins and their annotated locations for NP_036394.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and it encodes the longer protein (isoform 1).
    Source sequence(s)
    AB007917, AC093155, AL121989, BC025990, BF431947
    Consensus CDS
    CCDS711.1
    UniProtKB/Swiss-Prot
    Q7LGA3
    Related
    ENSP00000359581.4, ENST00000370550.10
    Conserved Domains (1) summary
    pfam03567
    Location:71326
    Sulfotransfer_2; Sulfotransferase family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    86914635..87109982
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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