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UniProtKB - Q86X52 (CHSS1_HUMAN)

Entry version 164 (25 May 2022)
Sequence version 3 (17 Oct 2006)
Previous versions | rss
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Protein

Chondroitin sulfate synthase 1

Gene

CHSY1

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

Has both beta-1,3-glucuronic acid and beta-1,4-N-acetylgalactosamine transferase activity. Transfers glucuronic acid (GlcUA) from UDP-GlcUA and N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of the elongating chondroitin polymer. Involved in the negative control of osteogenesis likely through the modulation of NOTCH signaling.

3 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Co2+1 Publication, Mn2+1 Publication, Cd2+1 PublicationNote: Divalent metal cations. Highest activities are measured with Co2+, Mn2+ and Cd2+.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi633Divalent metal cationSequence analysis1
Metal bindingi747Divalent metal cationSequence analysis1

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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
LigandMetal-binding

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		2.4.1.175, 2681
2.4.1.226, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q86X52

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-2022870, Chondroitin sulfate biosynthesis
R-HSA-3595177, Defective CHSY1 causes TPBS

SABIO-RK: Biochemical Reaction Kinetics Database

More...SABIO-RKi		Q86X52

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q86X52

Protein family/group databases

Carbohydrate-Active enZymes

More...CAZyi		GT31, Glycosyltransferase Family 31
GT7, Glycosyltransferase Family 7

<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%5Fand%5Ftaxonomy%5Fsection">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:
Chondroitin sulfate synthase 1Curated (EC:2.4.1.1751 Publication, EC:2.4.1.2261 Publication)
Alternative name(s):
Chondroitin glucuronyltransferase 1
Chondroitin synthase 1
Short name:
ChSy-1
Glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase 1
N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase 1
N-acetylgalactosaminyltransferase 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:CHSY1Imported
Synonyms:CHSY, CSS1, KIAA0990
ORF Names:UNQ756/PRO1487
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 15

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:17198, CHSY1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		608183, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q86X52

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000131873

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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 domaini1 – 7CytoplasmicSequence analysis7
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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>Transmembranei8 – 28Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini29 – 802LumenalSequence analysisAdd BLAST774

Keywords - Cellular componenti

Golgi apparatus, Membrane, Secreted

<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

Temtamy preaxial brachydactyly syndrome (TPBS)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by multiple congenital anomalies, mental retardation, sensorineural deafness, talon cusps of upper central incisors, growth retardation, and bilateral symmetric digital anomalies mainly in the form of preaxial brachydactyly and hyperphalangism.
Related information in OMIM
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_06582119 – 28Missing in TPBS. 1 Publication10
Natural variantiVAR_065822539P → R in TPBS. 1 PublicationCorresponds to variant dbSNP:rs387906985EnsemblClinVar.1

Keywords - Diseasei

Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		22856

MalaCards human disease database

More...MalaCardsi		CHSY1
MIMi605282, phenotype

Open Targets

More...OpenTargetsi		ENSG00000131873

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

More...Orphaneti		363417, Temtamy preaxial brachydactyly syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA26509

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q86X52, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		CHSY1

Domain mapping of disease mutations (DMDM)

More...DMDMi		116241296

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001895581 – 802Chondroitin sulfate synthase 1Add BLAST802

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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>Glycosylationi189N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi623N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi796N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q86X52

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q86X52

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q86X52

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q86X52

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

More...PaxDbi		Q86X52

PeptideAtlas

More...PeptideAtlasi		Q86X52

PRoteomics IDEntifications database

More...PRIDEi		Q86X52

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		70239

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q86X52, 3 sites

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q86X52

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

More...PhosphoSitePlusi		Q86X52

<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

Ubiquitous, with the highest levels in placenta. Detected at low levels in brain, heart, skeletal muscle, colon, thymus, spleen, kidney, liver, adrenal gland, mammary gland, stomach, small intestine, lung and peripheral blood leukocytes.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000131873, Expressed in chorionic villus and 241 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q86X52, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q86X52, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000131873, Low tissue specificity

<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)

More...BioGRIDi		116526, 55 interactors

Protein interaction database and analysis system

More...IntActi		Q86X52, 14 interactors

Molecular INTeraction database

More...MINTi		Q86X52

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000254190

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q86X52, protein

<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

AlphaFold Protein Structure Database

More...AlphaFoldDBi		Q86X52

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

More...SMRi		Q86X52

Database of comparative protein structure models

More...ModBasei		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>Regioni34 – 82DisorderedSequence analysisAdd BLAST49

<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 chondroitin N-acetylgalactosaminyltransferase family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3588, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT01030000234683

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_016244_2_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q86X52

Identification of Orthologs from Complete Genome Data

More...OMAi		FEKNDPN

Database of Orthologous Groups

More...OrthoDBi		442283at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q86X52

TreeFam database of animal gene trees

More...TreeFami		TF318303

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.90.550.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR008428, Chond_GalNAc
IPR029044, Nucleotide-diphossugar_trans

Pfam protein domain database

More...Pfami		View protein in Pfam
PF05679, CHGN, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF53448, SSF53448, 2 hits

<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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q86X52-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAARGRRAWL SVLLGLVLGF VLASRLVLPR ASELKRAGPR RRASPEGCRS 
        60         70         80         90        100
GQAAASQAGG ARGDARGAQL WPPGSDPDGG PRDRNFLFVG VMTAQKYLQT 
       110        120        130        140        150
RAVAAYRTWS KTIPGKVQFF SSEGSDTSVP IPVVPLRGVD DSYPPQKKSF 
       160        170        180        190        200
MMLKYMHDHY LDKYEWFMRA DDDVYIKGDR LENFLRSLNS SEPLFLGQTG 
       210        220        230        240        250
LGTTEEMGKL ALEPGENFCM GGPGVIMSRE VLRRMVPHIG KCLREMYTTH 
       260        270        280        290        300
EDVEVGRCVR RFAGVQCVWS YEMQQLFYEN YEQNKKGYIR DLHNSKIHQA 
       310        320        330        340        350
ITLHPNKNPP YQYRLHSYML SRKISELRHR TIQLHREIVL MSKYSNTEIH 
       360        370        380        390        400
KEDLQLGIPP SFMRFQPRQR EEILEWEFLT GKYLYSAVDG QPPRRGMDSA 
       410        420        430        440        450
QREALDDIVM QVMEMINANA KTRGRIIDFK EIQYGYRRVN PMYGAEYILD 
       460        470        480        490        500
LLLLYKKHKG KKMTVPVRRH AYLQQTFSKI QFVEHEELDA QELAKRINQE 
       510        520        530        540        550
SGSLSFLSNS LKKLVPFQLP GSKSEHKEPK DKKINILIPL SGRFDMFVRF 
       560        570        580        590        600
MGNFEKTCLI PNQNVKLVVL LFNSDSNPDK AKQVELMRDY RIKYPKADMQ 
       610        620        630        640        650
ILPVSGEFSR ALALEVGSSQ FNNESLLFFC DVDLVFTTEF LQRCRANTVL 
       660        670        680        690        700
GQQIYFPIIF SQYDPKIVYS GKVPSDNHFA FTQKTGFWRN YGFGITCIYK 
       710        720        730        740        750
GDLVRVGGFD VSIQGWGLED VDLFNKVVQA GLKTFRSQEV GVVHVHHPVF 
       760        770        780        790        800
CDPNLDPKQY KMCLGSKAST YGSTQQLAEM WLEKNDPSYS KSSNNNGSVR 

TA
Length:802
Mass (Da):91,784
Last modified:October 17, 2006 - v3
<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:i5B4C02670332FA0E
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8Y7B7A0A2R8Y7B7_HUMAN
Hexosyltransferase
CHSY1
53Annotation score:

Annotation score:2 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>

<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 BAA76834 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.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 conflicti274Q → R in AAQ88893 (PubMed:12975309).Curated1
Sequence conflicti588R → T in BAB64936 (PubMed:11514575).Curated1
Sequence conflicti588R → T in BAA76834 (PubMed:10231032).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06582119 – 28Missing in TPBS. 1 Publication10
Natural variantiVAR_021173359P → S. Corresponds to variant dbSNP:rs3743193Ensembl.1
Natural variantiVAR_065822539P → R in TPBS. 1 PublicationCorresponds to variant dbSNP:rs387906985EnsemblClinVar.1
Natural variantiVAR_028009652Q → H. Corresponds to variant dbSNP:rs4426333Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AB071402 mRNA Translation: BAB64936.1
AB023207 mRNA Translation: BAA76834.2 Different initiation.
AY358529 mRNA Translation: AAQ88893.1
BC046247 mRNA Translation: AAH46247.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS10390.1

NCBI Reference Sequences

More...RefSeqi		NP_055733.2, NM_014918.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000254190.4; ENSP00000254190.3; ENSG00000131873.7

Database of genes from NCBI RefSeq genomes

More...GeneIDi		22856

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:22856

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000254190.4; ENSP00000254190.3; NM_014918.5; NP_055733.2

UCSC genome browser

More...UCSCi		uc021sxt.1, human

<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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Functional Glycomics Gateway - GTase

Chondroitin sulfate synthase 1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB071402 mRNA Translation: BAB64936.1
AB023207 mRNA Translation: BAA76834.2 Different initiation.
AY358529 mRNA Translation: AAQ88893.1
BC046247 mRNA Translation: AAH46247.1
CCDSiCCDS10390.1
RefSeqiNP_055733.2, NM_014918.4

3D structure databases

AlphaFoldDBiQ86X52
SMRiQ86X52
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi116526, 55 interactors
IntActiQ86X52, 14 interactors
MINTiQ86X52
STRINGi9606.ENSP00000254190

Protein family/group databases

CAZyiGT31, Glycosyltransferase Family 31
GT7, Glycosyltransferase Family 7

PTM databases

GlyGeniQ86X52, 3 sites
iPTMnetiQ86X52
PhosphoSitePlusiQ86X52

Genetic variation databases

BioMutaiCHSY1
DMDMi116241296

Proteomic databases

EPDiQ86X52
jPOSTiQ86X52
MassIVEiQ86X52
MaxQBiQ86X52
PaxDbiQ86X52
PeptideAtlasiQ86X52
PRIDEiQ86X52
ProteomicsDBi70239

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		43966, 151 antibodies from 23 providers

The DNASU plasmid repository

More...DNASUi		22856

Genome annotation databases

EnsembliENST00000254190.4; ENSP00000254190.3; ENSG00000131873.7
GeneIDi22856
KEGGihsa:22856
MANE-SelectiENST00000254190.4; ENSP00000254190.3; NM_014918.5; NP_055733.2
UCSCiuc021sxt.1, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		22856
DisGeNETi22856

GeneCards: human genes, protein and diseases

More...GeneCardsi		CHSY1
HGNCiHGNC:17198, CHSY1
HPAiENSG00000131873, Low tissue specificity
MalaCardsiCHSY1
MIMi605282, phenotype
608183, gene
neXtProtiNX_Q86X52
OpenTargetsiENSG00000131873
Orphaneti363417, Temtamy preaxial brachydactyly syndrome
PharmGKBiPA26509
VEuPathDBiHostDB:ENSG00000131873

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3588, Eukaryota
GeneTreeiENSGT01030000234683
HOGENOMiCLU_016244_2_0_1
InParanoidiQ86X52
OMAiFEKNDPN
OrthoDBi442283at2759
PhylomeDBiQ86X52
TreeFamiTF318303

Enzyme and pathway databases

BRENDAi2.4.1.175, 2681
2.4.1.226, 2681
PathwayCommonsiQ86X52
ReactomeiR-HSA-2022870, Chondroitin sulfate biosynthesis
R-HSA-3595177, Defective CHSY1 causes TPBS
SABIO-RKiQ86X52
SignaLinkiQ86X52

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		22856, 10 hits in 1082 CRISPR screens

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

More...ChiTaRSi		CHSY1, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		CHSY1

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

More...GenomeRNAii		22856
PharosiQ86X52, Tbio

Protein Ontology

More...PROi		PR:Q86X52
RNActiQ86X52, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000131873, Expressed in chorionic villus and 241 other tissues
ExpressionAtlasiQ86X52, baseline and differential
GenevisibleiQ86X52, HS

Family and domain databases

Gene3Di3.90.550.10, 1 hit
InterProiView protein in InterPro
IPR008428, Chond_GalNAc
IPR029044, Nucleotide-diphossugar_trans
PfamiView protein in Pfam
PF05679, CHGN, 1 hit
SUPFAMiSSF53448, SSF53448, 2 hits

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<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 nameiCHSS1_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: Q86X52
Secondary accession number(s): Q6UX38, Q7LFU5, Q9Y2J5
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 2005
Last sequence update: October 17, 2006
Last modified: May 25, 2022
This is version 164 of the entry and version 3 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

Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
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