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Entry version 136 (08 May 2019)
Sequence version 5 (05 May 2009)
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Protein

Heparan-sulfate 6-O-sulfotransferase 1

Gene

HS6ST1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

6-O-sulfation enzyme which catalyzes the transfer of sulfate from 3'-phosphoadenosine 5'-phosphosulfate (PAPS) to position 6 of the N-sulfoglucosamine residue (GlcNS) of heparan sulfate. Critical for normal neuronal development where it may play a role in neuron branching. May also play a role in limb development. May prefer iduronic acid.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei140SubstrateBy similarity1
Binding sitei145SubstrateBy similarity1
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei150Proton acceptorBy similarity1
Binding sitei150SubstrateBy similarity1
Binding sitei185PAPSBy similarity1
Binding sitei193PAPSBy similarity1
Binding sitei197SubstrateBy similarity1
Binding sitei204SubstrateBy similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • heparan sulfate 6-O-sulfotransferase activity Source: GO_Central
  • sulfotransferase activity Source: ProtInc

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionTransferase

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:ENSG00000136720-MONOMER

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-2022928 HS-GAG biosynthesis

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Heparan-sulfate 6-O-sulfotransferase 1 (EC:2.8.2.-)
Short name:
HS6ST-1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:HS6ST1
Synonyms:HS6ST
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:5201 HS6ST1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
604846 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O60243

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini11 – 17CytoplasmicSequence analysis7
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei18 – 37Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST20
Topological domaini38 – 411LumenalSequence analysisAdd BLAST374

Keywords - Cellular componenti

Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Hypogonadotropic hypogonadism 15 with or without anosmia (HH15)2 Publications
The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry.
Disease descriptionA disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
See also OMIM:614880
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_072980218P → S in HH15. 1 PublicationCorresponds to variant dbSNP:rs200268730Ensembl.1
Natural variantiVAR_069283306R → Q in HH15; 15 to 30% reduction in enzymatic activity compared to wild-type. 2 PublicationsCorresponds to variant dbSNP:rs201307896Ensembl.1
Natural variantiVAR_069284306R → W in HH15; with anosmia; results in Kallmann syndrome in the presence of FGFR1 mutation Gln-250; approximately 50% reduction in enzymatic activity compared to wild-type. 2 PublicationsCorresponds to variant dbSNP:rs780352591Ensembl.1
Natural variantiVAR_069285323R → Q in HH15; approximately 30% reduction in enzymatic activity compared to wild-type when heparan sulfate is the acceptor substrate. 1 PublicationCorresponds to variant dbSNP:rs761325768Ensembl.1
Natural variantiVAR_069286382R → W in HH15; with or without anosmia; results in Kallmann syndrome in the presence of NSMF mutation Ala-480; 25 to 35% reduction in enzymatic activity compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs199538589EnsemblClinVar.1
Natural variantiVAR_069287404M → V in HH15; with anosmia; 30 to 70% reduction in enzymatic activity compared to wild-type. 1 Publication1

Keywords - Diseasei

Disease mutation, Hypogonadotropic hypogonadism, Kallmann syndrome

Organism-specific databases

DisGeNET

More...
DisGeNETi
9394

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
HS6ST1

MalaCards human disease database

More...
MalaCardsi
HS6ST1
MIMi614880 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000136720

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
478 Kallmann syndrome
432 Normosmic congenital hypogonadotropic hypogonadism

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA35102

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
HS6ST1

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001908011 – 411Heparan-sulfate 6-O-sulfotransferase 1Add BLAST411

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi264N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi320N-linked (GlcNAc...) asparagineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

N-glycosylated.By similarity

Keywords - PTMi

Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
O60243

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
O60243

MaxQB - The MaxQuant DataBase

More...
MaxQBi
O60243

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
O60243

PeptideAtlas

More...
PeptideAtlasi
O60243

PRoteomics IDEntifications database

More...
PRIDEi
O60243

ProteomicsDB human proteome resource

More...
ProteomicsDBi
49276
49277 [O60243-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O60243

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
O60243

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in fetal brain.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000136720 Expressed in 200 organ(s), highest expression level in left adrenal gland cortex

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O60243 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA044586

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
114793, 14 interactors

Protein interaction database and analysis system

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IntActi
O60243, 3 interactors

Molecular INTeraction database

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MINTi
O60243

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000259241

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
O60243

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni93 – 101PAPS bindingBy similarity9
Regioni123 – 124Substrate bindingBy similarity2
Regioni317 – 319PAPS bindingBy similarity3
Regioni323 – 324PAPS bindingBy similarity2

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili352 – 387Sequence analysisAdd BLAST36

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi2 – 5Poly-Arg4

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the sulfotransferase 6 family.Curated

Keywords - Domaini

Coiled coil, Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3955 Eukaryota
ENOG410XSW4 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00950000183071

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000007772

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
O60243

KEGG Orthology (KO)

More...
KOi
K02514

Identification of Orthologs from Complete Genome Data

More...
OMAi
QNLRPDQ

Database of Orthologous Groups

More...
OrthoDBi
288325at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O60243

TreeFam database of animal gene trees

More...
TreeFami
TF312835

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR010635 Heparan_SO4-6-sulfoTrfase
IPR027417 P-loop_NTPase
IPR005331 Sulfotransferase

The PANTHER Classification System

More...
PANTHERi
PTHR12812 PTHR12812, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF03567 Sulfotransfer_2, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF52540 SSF52540, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: O60243-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MRRRRAGGRT MVERASKFVL VVAGSVCFML ILYQYAGPGL SLGAPGGRAP
60 70 80 90 100
PDDLDLFPTP DPHYEKKYYF PVRELERSLR FDMKGDDVIV FLHIQKTGGT
110 120 130 140 150
TFGRHLVQNV RLEVPCDCRP GQKKCTCYRP NRRETWLFSR FSTGWSCGLH
160 170 180 190 200
ADWTELTNCV PGVLDRRDSA ALRTPRKFYY ITLLRDPVSR YLSEWRHVQR
210 220 230 240 250
GATWKTSLHM CDGRTPTPEE LPPCYEGTDW SGCTLQEFMD CPYNLANNRQ
260 270 280 290 300
VRMLADLSLV GCYNLSFIPE GKRAQLLLES AKKNLRGMAF FGLTEFQRKT
310 320 330 340 350
QYLFERTFNL KFIRPFMQYN STRAGGVEVD EDTIRRIEEL NDLDMQLYDY
360 370 380 390 400
AKDLFQQRYQ YKRQLERREQ RLRSREERLL HRAKEALPRE DADEPGRVPT
410
EDYMSHIIEK W
Length:411
Mass (Da):48,226
Last modified:May 5, 2009 - v5
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iFCBF7AFAF1F3325D
GO
Isoform 2 (identifier: O60243-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-162: Missing.
     163-175: VLDRRDSAALRTP → MFSWCLWPVVGES

Note: No experimental confirmation available.
Show »
Length:249
Mass (Da):29,870
Checksum:i8579B4F4EE555A99
GO

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAY14736 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAA25760 differs from that shown. Reason: Frameshift at positions 5 and 7.Curated
The sequence BAA25760 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAG57153 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti55D → Y in BAA25760 (PubMed:9535912).Curated1
Sequence conflicti191Y → C in BAG57153 (PubMed:14702039).Curated1
Sequence conflicti255A → T in BAG57153 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_072980218P → S in HH15. 1 PublicationCorresponds to variant dbSNP:rs200268730Ensembl.1
Natural variantiVAR_069283306R → Q in HH15; 15 to 30% reduction in enzymatic activity compared to wild-type. 2 PublicationsCorresponds to variant dbSNP:rs201307896Ensembl.1
Natural variantiVAR_069284306R → W in HH15; with anosmia; results in Kallmann syndrome in the presence of FGFR1 mutation Gln-250; approximately 50% reduction in enzymatic activity compared to wild-type. 2 PublicationsCorresponds to variant dbSNP:rs780352591Ensembl.1
Natural variantiVAR_069285323R → Q in HH15; approximately 30% reduction in enzymatic activity compared to wild-type when heparan sulfate is the acceptor substrate. 1 PublicationCorresponds to variant dbSNP:rs761325768Ensembl.1
Natural variantiVAR_069286382R → W in HH15; with or without anosmia; results in Kallmann syndrome in the presence of NSMF mutation Ala-480; 25 to 35% reduction in enzymatic activity compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs199538589EnsemblClinVar.1
Natural variantiVAR_069287404M → V in HH15; with anosmia; 30 to 70% reduction in enzymatic activity compared to wild-type. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0370481 – 162Missing in isoform 2. 1 PublicationAdd BLAST162
Alternative sequenceiVSP_037049163 – 175VLDRR…ALRTP → MFSWCLWPVVGES in isoform 2. 1 PublicationAdd BLAST13

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AB006179 mRNA Translation: BAA25760.1 Sequence problems.
AK293724 mRNA Translation: BAG57153.1 Different initiation.
AK295898 mRNA Translation: BAG58691.1
AC017079 Genomic DNA Translation: AAY14736.1 Different initiation.
BC001196 mRNA Translation: AAH01196.1
BC096239 mRNA Translation: AAH96239.4
BC096240 mRNA Translation: AAH96240.4
BC099638 mRNA Translation: AAH99638.4
BC099639 mRNA Translation: AAH99639.4

The Consensus CDS (CCDS) project

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CCDSi
CCDS42748.1 [O60243-1]

NCBI Reference Sequences

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RefSeqi
NP_004798.3, NM_004807.2 [O60243-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000259241; ENSP00000259241; ENSG00000136720 [O60243-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
9394

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:9394

UCSC genome browser

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UCSCi
uc002tpt.5 human [O60243-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB006179 mRNA Translation: BAA25760.1 Sequence problems.
AK293724 mRNA Translation: BAG57153.1 Different initiation.
AK295898 mRNA Translation: BAG58691.1
AC017079 Genomic DNA Translation: AAY14736.1 Different initiation.
BC001196 mRNA Translation: AAH01196.1
BC096239 mRNA Translation: AAH96239.4
BC096240 mRNA Translation: AAH96240.4
BC099638 mRNA Translation: AAH99638.4
BC099639 mRNA Translation: AAH99639.4
CCDSiCCDS42748.1 [O60243-1]
RefSeqiNP_004798.3, NM_004807.2 [O60243-1]

3D structure databases

SMRiO60243
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114793, 14 interactors
IntActiO60243, 3 interactors
MINTiO60243
STRINGi9606.ENSP00000259241

PTM databases

iPTMnetiO60243
PhosphoSitePlusiO60243

Polymorphism and mutation databases

BioMutaiHS6ST1

Proteomic databases

EPDiO60243
jPOSTiO60243
MaxQBiO60243
PaxDbiO60243
PeptideAtlasiO60243
PRIDEiO60243
ProteomicsDBi49276
49277 [O60243-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000259241; ENSP00000259241; ENSG00000136720 [O60243-1]
GeneIDi9394
KEGGihsa:9394
UCSCiuc002tpt.5 human [O60243-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
9394
DisGeNETi9394

GeneCards: human genes, protein and diseases

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GeneCardsi
HS6ST1
GeneReviewsiHS6ST1
HGNCiHGNC:5201 HS6ST1
HPAiHPA044586
MalaCardsiHS6ST1
MIMi604846 gene
614880 phenotype
neXtProtiNX_O60243
OpenTargetsiENSG00000136720
Orphaneti478 Kallmann syndrome
432 Normosmic congenital hypogonadotropic hypogonadism
PharmGKBiPA35102

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG3955 Eukaryota
ENOG410XSW4 LUCA
GeneTreeiENSGT00950000183071
HOGENOMiHOG000007772
InParanoidiO60243
KOiK02514
OMAiQNLRPDQ
OrthoDBi288325at2759
PhylomeDBiO60243
TreeFamiTF312835

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000136720-MONOMER
ReactomeiR-HSA-2022928 HS-GAG biosynthesis

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
HS6ST1 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
9394

Protein Ontology

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PROi
PR:O60243

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000136720 Expressed in 200 organ(s), highest expression level in left adrenal gland cortex
GenevisibleiO60243 HS

Family and domain databases

InterProiView protein in InterPro
IPR010635 Heparan_SO4-6-sulfoTrfase
IPR027417 P-loop_NTPase
IPR005331 Sulfotransferase
PANTHERiPTHR12812 PTHR12812, 1 hit
PfamiView protein in Pfam
PF03567 Sulfotransfer_2, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiH6ST1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O60243
Secondary accession number(s): B4DEP2
, B4DJ29, Q53SL2, Q9BVI1
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 11, 2005
Last sequence update: May 5, 2009
Last modified: May 8, 2019
This is version 136 of the entry and version 5 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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