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Entry version 149 (16 Oct 2019)
Sequence version 2 (05 Oct 2010)
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Protein

Chondroitin sulfate N-acetylgalactosaminyltransferase 1

Gene

CSGALNACT1

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

Transfers 1,4-N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of glucuronic acid (GlcUA). Required for addition of the first GalNAc to the core tetrasaccharide linker and for elongation of chondroitin chains. Important role in chondroitin chain biosynthesis in cartilage formation and subsequent endochondral ossification (PubMed:11788602, PubMed:12163485, PubMed:12446672, PubMed:17145758). Moreover, is involved in the metabolism of aggrecan (By similarity).By similarity6 Publications

<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 <a href="http://www.uniprot.org/help/function_section">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 bindingi360Divalent metal cationSequence analysis1
Metal bindingi477Divalent 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

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
LigandMetal-binding

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS07428-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
2.4.1.174 2681
2.4.1.175 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-2022870 Chondroitin sulfate biosynthesis

Protein family/group databases

Carbohydrate-Active enZymes

More...
CAZyi
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_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:
Chondroitin sulfate N-acetylgalactosaminyltransferase 1Curated (EC:2.4.1.1742 Publications)
Short name:
CsGalNAcT-1Curated
Alternative name(s):
Chondroitin beta-1,4-N-acetylgalactosaminyltransferase 1
Short name:
Beta4GalNAcT-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:CSGALNACT1Imported
Synonyms:CHGN, GALNACT1
ORF Names:UNQ656/PRO1287
<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 8

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:24290 CSGALNACT1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
616615 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8TDX6

<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 domaini1 – 14CytoplasmicSequence analysisAdd BLAST14
<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>Transmembranei15 – 35Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini36 – 532LumenalSequence analysisAdd BLAST497

Keywords - Cellular componenti

Golgi apparatus, 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

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
55790

Open Targets

More...
OpenTargetsi
ENSG00000147408

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162382829

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8TDX6

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2040705

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CSGALNACT1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
308153425

<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_00001895641 – 532Chondroitin sulfate N-acetylgalactosaminyltransferase 1Add BLAST532

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>Glycosylationi315N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi324N-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.1 Publication

Keywords - PTMi

Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q8TDX6

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8TDX6

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q8TDX6

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8TDX6

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

More...
PaxDbi
Q8TDX6

PeptideAtlas

More...
PeptideAtlasi
Q8TDX6

PRoteomics IDEntifications database

More...
PRIDEi
Q8TDX6

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
74361 [Q8TDX6-1]
74362 [Q8TDX6-2]
74363 [Q8TDX6-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8TDX6

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

More...
PhosphoSitePlusi
Q8TDX6

<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, thyroid, bladder, prostate and adrenal gland. Detected at low levels in the other tissues examined.3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000147408 Expressed in 230 organ(s), highest expression level in thyroid gland

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8TDX6 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8TDX6 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA061336

<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
120904, 13 interactors

Protein interaction database and analysis system

More...
IntActi
Q8TDX6, 11 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000411816

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
Q8TDX6

<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

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 coili57 – 100Sequence analysisAdd BLAST44

<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

Keywords - Domaini

Coiled coil, Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3588 Eukaryota
ENOG410XNYM LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00970000193429

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000230628

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8TDX6

KEGG Orthology (KO)

More...
KOi
K00746

Identification of Orthologs from Complete Genome Data

More...
OMAi
VLFFCDV

Database of Orthologous Groups

More...
OrthoDBi
389974at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8TDX6

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, 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>. 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>Sequences (3+)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 3 <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

This entry has 3 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8TDX6-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MMMVRRGLLA WISRVVVLLV LLCCAISVLY MLACTPKGDE EQLALPRANS
60 70 80 90 100
PTGKEGYQAV LQEWEEQHRN YVSSLKRQIA QLKEELQERS EQLRNGQYQA
110 120 130 140 150
SDAAGLGLDR SPPEKTQADL LAFLHSQVDK AEVNAGVKLA TEYAAVPFDS
160 170 180 190 200
FTLQKVYQLE TGLTRHPEEK PVRKDKRDEL VEAIESALET LNSPAENSPN
210 220 230 240 250
HRPYTASDFI EGIYRTERDK GTLYELTFKG DHKHEFKRLI LFRPFGPIMK
260 270 280 290 300
VKNEKLNMAN TLINVIVPLA KRVDKFRQFM QNFREMCIEQ DGRVHLTVVY
310 320 330 340 350
FGKEEINEVK GILENTSKAA NFRNFTFIQL NGEFSRGKGL DVGARFWKGS
360 370 380 390 400
NVLLFFCDVD IYFTSEFLNT CRLNTQPGKK VFYPVLFSQY NPGIIYGHHD
410 420 430 440 450
AVPPLEQQLV IKKETGFWRD FGFGMTCQYR SDFINIGGFD LDIKGWGGED
460 470 480 490 500
VHLYRKYLHS NLIVVRTPVR GLFHLWHEKR CMDELTPEQY KMCMQSKAMN
510 520 530
EASHGQLGML VFRHEIEAHL RKQKQKTSSK KT
Length:532
Mass (Da):61,294
Last modified:October 5, 2010 - v2
<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:iDB76B0FD6D74FD82
GO
Isoform 2 (identifier: Q8TDX6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-257: Missing.
     258-282: MANTLINVIVPLAKRVDKFRQFMQN → MESYSVTQAGVQWHELCSLQPSPPR

Note: No experimental confirmation available.
Show »
Length:275
Mass (Da):31,924
Checksum:iB9353B075BE8C7DB
GO
Isoform 3 (identifier: Q8TDX6-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     285-532: EMCIEQDGRV...QKQKTSSKKT → PADEVFRCVPLSP

Note: No experimental confirmation available.
Show »
Length:297
Mass (Da):33,917
Checksum:i71025F2FB242394F
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 are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E5RJB6E5RJB6_HUMAN
Chondroitin sulfate N-acetylgalacto...
CSGALNACT1
96Annotation score:

Annotation score:1 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>
E5RK93E5RK93_HUMAN
Chondroitin sulfate N-acetylgalacto...
CSGALNACT1
104Annotation score:

Annotation score:1 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>
E5RGB2E5RGB2_HUMAN
Chondroitin sulfate N-acetylgalacto...
CSGALNACT1
53Annotation score:

Annotation score:1 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>
E5RGK2E5RGK2_HUMAN
Chondroitin sulfate N-acetylgalacto...
CSGALNACT1
14Annotation score:

Annotation score:1 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 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 conflicti246G → S in BAB85992 (PubMed:11788602).Curated1
Sequence conflicti246G → S in AAQ88806 (PubMed:12975309).Curated1
Sequence conflicti252K → E in AAH60772 (PubMed:15489334).Curated1
Sequence conflicti312I → V in BAA92093 (PubMed:14702039).Curated1

Natural variant

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_055647137V → I. Corresponds to variant dbSNP:rs17128518Ensembl.1
Natural variantiVAR_060391193S → N5 PublicationsCorresponds to variant dbSNP:rs7017776Ensembl.1
Natural variantiVAR_078123234H → R Found in a patient with neuropathy; unknown pathological significance; loss of GalNAc-transferase activity; no effect on protein expression. 1 PublicationCorresponds to variant dbSNP:rs200092345Ensembl.1
Natural variantiVAR_078124384P → R Probable disease-associated mutation found in a patient with a mild skeletal dysplasia with shortness of long bones of prenatal onset; loss of GalNAc-transferase activity. 1 PublicationCorresponds to variant dbSNP:rs746391651Ensembl.1
Natural variantiVAR_055648473F → Y. Corresponds to variant dbSNP:rs17128366Ensembl.1
Natural variantiVAR_078125509M → R Found in a patient with neuropathy; unknown pathological significance; loss of GalNAc-transferase activity; no effect on protein expression. 1 PublicationCorresponds to variant dbSNP:rs533235539Ensembl.1

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_0127261 – 257Missing in isoform 2. 1 PublicationAdd BLAST257
Alternative sequenceiVSP_012727258 – 282MANTL…QFMQN → MESYSVTQAGVQWHELCSLQ PSPPR in isoform 2. 1 PublicationAdd BLAST25
Alternative sequenceiVSP_012728285 – 532EMCIE…SSKKT → PADEVFRCVPLSP in isoform 3. 1 PublicationAdd BLAST248

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AB071403 mRNA Translation: BAB85992.1
AB081516 mRNA Translation: BAC16217.1
AY358441 mRNA Translation: AAQ88806.1
AK002126 mRNA Translation: BAA92093.1
AK314625 mRNA Translation: BAG37191.1
AC090541 Genomic DNA No translation available.
AC090786 Genomic DNA No translation available.
AC116376 Genomic DNA No translation available.
BC060772 mRNA Translation: AAH60772.1
AL157483 mRNA Translation: CAB75673.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS6010.1 [Q8TDX6-1]

Protein sequence database of the Protein Information Resource

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PIRi
T46919

NCBI Reference Sequences

More...
RefSeqi
NP_001123990.1, NM_001130518.1 [Q8TDX6-1]
NP_060841.5, NM_018371.4 [Q8TDX6-1]
XP_006716421.1, XM_006716358.2
XP_006716422.1, XM_006716359.2
XP_006716423.1, XM_006716360.2 [Q8TDX6-1]
XP_006716424.1, XM_006716361.2
XP_006716425.1, XM_006716362.2
XP_006716426.1, XM_006716363.1 [Q8TDX6-1]
XP_006716427.1, XM_006716364.3 [Q8TDX6-1]
XP_011542880.1, XM_011544578.1 [Q8TDX6-1]
XP_011542881.1, XM_011544579.1 [Q8TDX6-1]
XP_011542882.1, XM_011544580.1
XP_011542884.1, XM_011544582.1
XP_011542885.1, XM_011544583.1 [Q8TDX6-1]
XP_011542886.1, XM_011544584.1 [Q8TDX6-1]
XP_016869112.1, XM_017013623.1 [Q8TDX6-1]
XP_016869113.1, XM_017013624.1 [Q8TDX6-1]
XP_016869114.1, XM_017013625.1 [Q8TDX6-1]
XP_016869115.1, XM_017013626.1
XP_016869116.1, XM_017013627.1 [Q8TDX6-1]
XP_016869117.1, XM_017013628.1 [Q8TDX6-1]
XP_016869118.1, XM_017013629.1 [Q8TDX6-1]
XP_016869119.1, XM_017013630.1
XP_016869120.1, XM_017013631.1
XP_016869121.1, XM_017013632.1
XP_016869122.1, XM_017013633.1
XP_016869123.1, XM_017013634.1
XP_016869124.1, XM_017013635.1
XP_016869125.1, XM_017013636.1
XP_016869126.1, XM_017013637.1
XP_016869127.1, XM_017013638.1 [Q8TDX6-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000332246; ENSP00000330805; ENSG00000147408 [Q8TDX6-1]
ENST00000397998; ENSP00000381084; ENSG00000147408 [Q8TDX6-3]
ENST00000454498; ENSP00000411816; ENSG00000147408 [Q8TDX6-1]
ENST00000519222; ENSP00000428216; ENSG00000147408 [Q8TDX6-3]
ENST00000522854; ENSP00000429809; ENSG00000147408 [Q8TDX6-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
55790

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:55790

UCSC genome browser

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UCSCi
uc003wzg.4 human [Q8TDX6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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_references_section">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 beta-1,4-N-acetylgalactosaminyltransferase 1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB071403 mRNA Translation: BAB85992.1
AB081516 mRNA Translation: BAC16217.1
AY358441 mRNA Translation: AAQ88806.1
AK002126 mRNA Translation: BAA92093.1
AK314625 mRNA Translation: BAG37191.1
AC090541 Genomic DNA No translation available.
AC090786 Genomic DNA No translation available.
AC116376 Genomic DNA No translation available.
BC060772 mRNA Translation: AAH60772.1
AL157483 mRNA Translation: CAB75673.1
CCDSiCCDS6010.1 [Q8TDX6-1]
PIRiT46919
RefSeqiNP_001123990.1, NM_001130518.1 [Q8TDX6-1]
NP_060841.5, NM_018371.4 [Q8TDX6-1]
XP_006716421.1, XM_006716358.2
XP_006716422.1, XM_006716359.2
XP_006716423.1, XM_006716360.2 [Q8TDX6-1]
XP_006716424.1, XM_006716361.2
XP_006716425.1, XM_006716362.2
XP_006716426.1, XM_006716363.1 [Q8TDX6-1]
XP_006716427.1, XM_006716364.3 [Q8TDX6-1]
XP_011542880.1, XM_011544578.1 [Q8TDX6-1]
XP_011542881.1, XM_011544579.1 [Q8TDX6-1]
XP_011542882.1, XM_011544580.1
XP_011542884.1, XM_011544582.1
XP_011542885.1, XM_011544583.1 [Q8TDX6-1]
XP_011542886.1, XM_011544584.1 [Q8TDX6-1]
XP_016869112.1, XM_017013623.1 [Q8TDX6-1]
XP_016869113.1, XM_017013624.1 [Q8TDX6-1]
XP_016869114.1, XM_017013625.1 [Q8TDX6-1]
XP_016869115.1, XM_017013626.1
XP_016869116.1, XM_017013627.1 [Q8TDX6-1]
XP_016869117.1, XM_017013628.1 [Q8TDX6-1]
XP_016869118.1, XM_017013629.1 [Q8TDX6-1]
XP_016869119.1, XM_017013630.1
XP_016869120.1, XM_017013631.1
XP_016869121.1, XM_017013632.1
XP_016869122.1, XM_017013633.1
XP_016869123.1, XM_017013634.1
XP_016869124.1, XM_017013635.1
XP_016869125.1, XM_017013636.1
XP_016869126.1, XM_017013637.1
XP_016869127.1, XM_017013638.1 [Q8TDX6-1]

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi120904, 13 interactors
IntActiQ8TDX6, 11 interactors
STRINGi9606.ENSP00000411816

Chemistry databases

BindingDBiQ8TDX6
ChEMBLiCHEMBL2040705

Protein family/group databases

CAZyiGT7 Glycosyltransferase Family 7

PTM databases

iPTMnetiQ8TDX6
PhosphoSitePlusiQ8TDX6

Polymorphism and mutation databases

BioMutaiCSGALNACT1
DMDMi308153425

Proteomic databases

EPDiQ8TDX6
jPOSTiQ8TDX6
MassIVEiQ8TDX6
MaxQBiQ8TDX6
PaxDbiQ8TDX6
PeptideAtlasiQ8TDX6
PRIDEiQ8TDX6
ProteomicsDBi74361 [Q8TDX6-1]
74362 [Q8TDX6-2]
74363 [Q8TDX6-3]

Genome annotation databases

EnsembliENST00000332246; ENSP00000330805; ENSG00000147408 [Q8TDX6-1]
ENST00000397998; ENSP00000381084; ENSG00000147408 [Q8TDX6-3]
ENST00000454498; ENSP00000411816; ENSG00000147408 [Q8TDX6-1]
ENST00000519222; ENSP00000428216; ENSG00000147408 [Q8TDX6-3]
ENST00000522854; ENSP00000429809; ENSG00000147408 [Q8TDX6-1]
GeneIDi55790
KEGGihsa:55790
UCSCiuc003wzg.4 human [Q8TDX6-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
55790
DisGeNETi55790

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CSGALNACT1
HGNCiHGNC:24290 CSGALNACT1
HPAiHPA061336
MIMi616615 gene
neXtProtiNX_Q8TDX6
OpenTargetsiENSG00000147408
PharmGKBiPA162382829

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3588 Eukaryota
ENOG410XNYM LUCA
GeneTreeiENSGT00970000193429
HOGENOMiHOG000230628
InParanoidiQ8TDX6
KOiK00746
OMAiVLFFCDV
OrthoDBi389974at2759
PhylomeDBiQ8TDX6
TreeFamiTF318303

Enzyme and pathway databases

BioCyciMetaCyc:HS07428-MONOMER
BRENDAi2.4.1.174 2681
2.4.1.175 2681
ReactomeiR-HSA-2022870 Chondroitin sulfate biosynthesis

Miscellaneous databases

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

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ChiTaRSi
CSGALNACT1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
ChGn

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

More...
GenomeRNAii
55790
PharosiQ8TDX6

Protein Ontology

More...
PROi
PR:Q8TDX6

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000147408 Expressed in 230 organ(s), highest expression level in thyroid gland
ExpressionAtlasiQ8TDX6 baseline and differential
GenevisibleiQ8TDX6 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, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

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 nameiCGAT1_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: Q8TDX6
Secondary accession number(s): B2RBE4
, Q6P9G6, Q8IUF9, Q9NSQ7, Q9NUM9
<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: February 1, 2005
Last sequence update: October 5, 2010
Last modified: October 16, 2019
This is version 149 of the entry and version 2 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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