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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-Experimental evidence at protein leveli

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 similarity4 Publications

Catalytic activityi

UDP-N-acetyl-D-galactosamine + beta-D-glucuronyl-(1->3)-D-galactosyl-proteoglycan = UDP + N-acetyl-D-galactosaminyl-(1->4)-beta-D-glucuronyl-(1->3)-beta-D-galactosylproteoglycan.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi360Divalent metal cationSequence analysis1
Metal bindingi477Divalent metal cationSequence analysis1

GO - Molecular functioni

  • acetylgalactosaminyltransferase activity Source: UniProtKB
  • glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity Source: UniProtKB
  • glucuronosyltransferase activity Source: UniProtKB
  • glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity Source: UniProtKB
  • metal ion binding Source: UniProtKB
  • peptidoglycan glycosyltransferase activity Source: UniProtKB

GO - Biological processi

  • anatomical structure morphogenesis Source: UniProtKB
  • cartilage development Source: Ensembl
  • cell proliferation Source: UniProtKB
  • cell recognition Source: UniProtKB
  • chondroitin sulfate biosynthetic process Source: UniProtKB
  • chondroitin sulfate proteoglycan biosynthetic process Source: UniProtKB
  • chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Source: UniProtKB
  • dermatan sulfate proteoglycan biosynthetic process Source: UniProtKB
  • endochondral ossification Source: Ensembl
  • extracellular matrix organization Source: UniProtKB
  • heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Source: UniProtKB
  • heparin biosynthetic process Source: UniProtKB
  • nervous system development Source: UniProtKB
  • proteoglycan biosynthetic process Source: UniProtKB
  • UDP-glucuronate metabolic process Source: UniProtKB
  • UDP-N-acetylgalactosamine metabolic process Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Transferase

Keywords - Ligandi

Metal-binding

Enzyme and pathway databases

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

Protein family/group databases

CAZyiGT7. Glycosyltransferase Family 7.

Names & Taxonomyi

Protein namesi
Recommended name:
Chondroitin sulfate N-acetylgalactosaminyltransferase 1 (EC:2.4.1.174)
Short name:
CsGalNAcT-1
Alternative name(s):
Chondroitin beta-1,4-N-acetylgalactosaminyltransferase 1
Short name:
Beta4GalNAcT-1
Gene namesi
Name:CSGALNACT1
Synonyms:CHGN, GALNACT1
ORF Names:UNQ656/PRO1287
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:24290. CSGALNACT1.

Subcellular locationi

  • Golgi apparatusGolgi stack membrane 1 Publication; Single-pass type II membrane protein 1 Publication

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 14CytoplasmicSequence analysisAdd BLAST14
Transmembranei15 – 35Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini36 – 532LumenalSequence analysisAdd BLAST497

GO - Cellular componenti

  • Golgi cisterna membrane Source: UniProtKB-SubCell
  • Golgi membrane Source: Reactome
  • integral component of Golgi membrane Source: UniProtKB
  • intracellular Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi55790.
OpenTargetsiENSG00000147408.
PharmGKBiPA162382829.

Chemistry databases

ChEMBLiCHEMBL2040705.

Polymorphism and mutation databases

BioMutaiCSGALNACT1.
DMDMi308153425.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001895641 – 532Chondroitin sulfate N-acetylgalactosaminyltransferase 1Add BLAST532

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi315N-linked (GlcNAc...)Sequence analysis1
Glycosylationi324N-linked (GlcNAc...)Sequence analysis1

Post-translational modificationi

N-glycosylated.1 Publication

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ8TDX6.
PaxDbiQ8TDX6.
PeptideAtlasiQ8TDX6.
PRIDEiQ8TDX6.

PTM databases

iPTMnetiQ8TDX6.
PhosphoSitePlusiQ8TDX6.

Expressioni

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

BgeeiENSG00000147408.
CleanExiHS_CSGALNACT1.
ExpressionAtlasiQ8TDX6. baseline and differential.
GenevisibleiQ8TDX6. HS.

Organism-specific databases

HPAiHPA061336.

Interactioni

Protein-protein interaction databases

BioGridi120904. 13 interactors.
STRINGi9606.ENSP00000310891.

Chemistry databases

BindingDBiQ8TDX6.

Structurei

3D structure databases

ProteinModelPortaliQ8TDX6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili57 – 100Sequence analysisAdd BLAST44

Sequence similaritiesi

Keywords - Domaini

Coiled coil, Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3588. Eukaryota.
ENOG410XNYM. LUCA.
GeneTreeiENSGT00760000119143.
HOGENOMiHOG000230628.
HOVERGENiHBG050930.
InParanoidiQ8TDX6.
KOiK00746.
OMAiGKEEMNE.
OrthoDBiEOG091G070I.
PhylomeDBiQ8TDX6.
TreeFamiTF318303.

Family and domain databases

Gene3Di3.90.550.10. 1 hit.
InterProiIPR008428. Chond_GalNAc.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view]
PfamiPF05679. CHGN. 1 hit.
[Graphical view]
SUPFAMiSSF53448. SSF53448. 2 hits.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8TDX6-1) [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
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
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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
Natural variantiVAR_055647137V → I.Corresponds to variant rs17128518dbSNPEnsembl.1
Natural variantiVAR_060391193S → N.5 PublicationsCorresponds to variant rs7017776dbSNPEnsembl.1
Natural variantiVAR_055648473F → Y.Corresponds to variant rs17128366dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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. [Q8TDX6-1]
XP_006716422.1. XM_006716359.2. [Q8TDX6-1]
XP_006716423.1. XM_006716360.2. [Q8TDX6-1]
XP_006716424.1. XM_006716361.2. [Q8TDX6-1]
XP_006716425.1. XM_006716362.2. [Q8TDX6-1]
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. [Q8TDX6-1]
XP_011542884.1. XM_011544582.1. [Q8TDX6-1]
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. [Q8TDX6-1]
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. [Q8TDX6-1]
XP_016869120.1. XM_017013631.1. [Q8TDX6-1]
XP_016869121.1. XM_017013632.1. [Q8TDX6-1]
XP_016869122.1. XM_017013633.1. [Q8TDX6-1]
XP_016869123.1. XM_017013634.1. [Q8TDX6-1]
XP_016869124.1. XM_017013635.1. [Q8TDX6-1]
XP_016869125.1. XM_017013636.1. [Q8TDX6-1]
XP_016869126.1. XM_017013637.1. [Q8TDX6-1]
XP_016869127.1. XM_017013638.1. [Q8TDX6-1]
UniGeneiHs.613729.
Hs.721954.

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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

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. [Q8TDX6-1]
XP_006716422.1. XM_006716359.2. [Q8TDX6-1]
XP_006716423.1. XM_006716360.2. [Q8TDX6-1]
XP_006716424.1. XM_006716361.2. [Q8TDX6-1]
XP_006716425.1. XM_006716362.2. [Q8TDX6-1]
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. [Q8TDX6-1]
XP_011542884.1. XM_011544582.1. [Q8TDX6-1]
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. [Q8TDX6-1]
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. [Q8TDX6-1]
XP_016869120.1. XM_017013631.1. [Q8TDX6-1]
XP_016869121.1. XM_017013632.1. [Q8TDX6-1]
XP_016869122.1. XM_017013633.1. [Q8TDX6-1]
XP_016869123.1. XM_017013634.1. [Q8TDX6-1]
XP_016869124.1. XM_017013635.1. [Q8TDX6-1]
XP_016869125.1. XM_017013636.1. [Q8TDX6-1]
XP_016869126.1. XM_017013637.1. [Q8TDX6-1]
XP_016869127.1. XM_017013638.1. [Q8TDX6-1]
UniGeneiHs.613729.
Hs.721954.

3D structure databases

ProteinModelPortaliQ8TDX6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120904. 13 interactors.
STRINGi9606.ENSP00000310891.

Chemistry databases

BindingDBiQ8TDX6.
ChEMBLiCHEMBL2040705.

Protein family/group databases

CAZyiGT7. Glycosyltransferase Family 7.

PTM databases

iPTMnetiQ8TDX6.
PhosphoSitePlusiQ8TDX6.

Polymorphism and mutation databases

BioMutaiCSGALNACT1.
DMDMi308153425.

Proteomic databases

MaxQBiQ8TDX6.
PaxDbiQ8TDX6.
PeptideAtlasiQ8TDX6.
PRIDEiQ8TDX6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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

CTDi55790.
DisGeNETi55790.
GeneCardsiCSGALNACT1.
H-InvDBHIX0007349.
HGNCiHGNC:24290. CSGALNACT1.
HPAiHPA061336.
MIMi616615. gene.
neXtProtiNX_Q8TDX6.
OpenTargetsiENSG00000147408.
PharmGKBiPA162382829.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3588. Eukaryota.
ENOG410XNYM. LUCA.
GeneTreeiENSGT00760000119143.
HOGENOMiHOG000230628.
HOVERGENiHBG050930.
InParanoidiQ8TDX6.
KOiK00746.
OMAiGKEEMNE.
OrthoDBiEOG091G070I.
PhylomeDBiQ8TDX6.
TreeFamiTF318303.

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRSiCSGALNACT1. human.
GeneWikiiChGn.
GenomeRNAii55790.
PROiQ8TDX6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000147408.
CleanExiHS_CSGALNACT1.
ExpressionAtlasiQ8TDX6. baseline and differential.
GenevisibleiQ8TDX6. HS.

Family and domain databases

Gene3Di3.90.550.10. 1 hit.
InterProiIPR008428. Chond_GalNAc.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view]
PfamiPF05679. CHGN. 1 hit.
[Graphical view]
SUPFAMiSSF53448. SSF53448. 2 hits.
ProtoNetiSearch...

Entry informationi

Entry nameiCGAT1_HUMAN
AccessioniPrimary (citable) accession number: Q8TDX6
Secondary accession number(s): B2RBE4
, Q6P9G6, Q8IUF9, Q9NSQ7, Q9NUM9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 2005
Last sequence update: October 5, 2010
Last modified: November 2, 2016
This is version 129 of the entry and version 2 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.