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

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; AllianceGenome:HGNC:5193
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: NFSRA; 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: mouse all
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Genomic context

Location:: 1p22.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (86914635..87109982)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (86755193..86952707)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (87380318..87575665)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities.
Title: Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities.
HS2ST1-dependent signaling pathways determine breast cancer cell viability, matrix interactions, and invasive behavior.
Title: HS2ST1-dependent signaling pathways determine breast cancer cell viability, matrix interactions, and invasive behavior.
C5-epimerase and 2-O-sulfotransferase in association generate extended domains of consecutive GlcNS-IdoA2S Sequence.
Title: C5-epimerase and 2-O-sulfotransferase associate in vitro to generate contiguous epimerized and 2-O-sulfated heparan sulfate domains.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
analysis of differences and similarities various residues play in the biological roles of the HS-2OST and CS-2OST enzymes
Title: Mutational study of heparan sulfate 2-O-sulfotransferase and chondroitin sulfate 2-O-sulfotransferase.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Neurofacioskeletal syndrome with or without renal agenesis MedGen: C5543070 OMIM: 619194 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G27524 (e-PCR)
- UniSTS:35628

D1S3294 (e-PCR)
- UniSTS:11311

AL009717 (e-PCR)
- UniSTS:67198

Cda17d05 (e-PCR)
- UniSTS:48016

RH102077 (e-PCR)
- UniSTS:96411

HS2ST1__6589 (e-PCR)
- UniSTS:471463

AL034101 (e-PCR)
- UniSTS:93884

SHGC-75114 (e-PCR)
- UniSTS:71884

RH77888 (e-PCR)
- UniSTS:73935

AL034028 (e-PCR)
- UniSTS:93649

Homology

Homologs of the HS2ST1 gene: The HS2ST1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, and frog.
Orthologs from Annotation Pipeline: 424 organisms have orthologs with human gene HS2ST1
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables heparan sulfate 2-O-sulfotransferase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables heparan sulfate 2-O-sulfotransferase activity	TAS Traceable Author Statement more info
enables sulfotransferase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Process	Evidence Code	Pubs
involved_in gene expression	IEA Inferred from Electronic Annotation more info
involved_in glycosaminoglycan biosynthetic process	TAS Traceable Author Statement more info
involved_in heparan sulfate proteoglycan biosynthetic process, enzymatic modification	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in heparin metabolic process	IEA Inferred from Electronic Annotation more info
involved_in ureteric bud formation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in integral component of membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	HDA more info	PubMed

General protein information

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Preferred Names: heparan sulfate 2-O-sulfotransferase 1

Names: 2-O-sulfotransferase; 2OST

NP_001127964.1

EC 2.8.2.-

NP_036394.1

EC 2.8.2.-

NCBI Reference Sequences (RefSeq)

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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)

NM_001134492.2 → NP_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:71 → 224

Sulfotransfer_2; Sulfotransferase family
NM_012262.4 → NP_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, Q9NUJ9

Related

ENSP00000359581.4, ENST00000370550.10

Conserved Domains (1) summary

pfam03567
Location:71 → 326

Sulfotransfer_2; Sulfotransferase family