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Protein

Polypeptide N-acetylgalactosaminyltransferase 12

Gene

GALNT12

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has activity toward non-glycosylated peptides such as Muc5AC, Muc1a and EA2, and no detectable activity with Muc2 and Muc7. Displays enzymatic activity toward the Gal-NAc-Muc5AC glycopeptide, but no detectable activity to mono-GalNAc-glycosylated Muc1a, Muc2, Muc7 and EA2. May play an important role in the initial step of mucin-type oligosaccharide biosynthesis in digestive organs.

Catalytic activityi

UDP-N-acetyl-alpha-D-galactosamine + polypeptide = UDP + N-acetyl-alpha-D-galactosaminyl-polypeptide.1 Publication

Cofactori

Mn2+By similarity

Pathwayi: protein glycosylation

This protein is involved in the pathway protein glycosylation, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei176SubstrateBy similarity1
Binding sitei205SubstrateBy similarity1
Metal bindingi228ManganeseBy similarity1
Metal bindingi230ManganeseBy similarity1
Binding sitei335SubstrateBy similarity1
Metal bindingi363ManganeseBy similarity1
Binding sitei371SubstrateBy similarity1

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Keywords - Ligandi

Lectin, Manganese, Metal-binding

Enzyme and pathway databases

BioCyciZFISH:HS12940-MONOMER.
BRENDAi2.4.1.41. 2681.
ReactomeiR-HSA-913709. O-linked glycosylation of mucins.
UniPathwayiUPA00378.

Protein family/group databases

CAZyiCBM13. Carbohydrate-Binding Module Family 13.
GT27. Glycosyltransferase Family 27.

Names & Taxonomyi

Protein namesi
Recommended name:
Polypeptide N-acetylgalactosaminyltransferase 12 (EC:2.4.1.41)
Alternative name(s):
Polypeptide GalNAc transferase 12
Short name:
GalNAc-T12
Short name:
pp-GaNTase 12
Protein-UDP acetylgalactosaminyltransferase 12
UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 12
Gene namesi
Name:GALNT12
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:19877. GALNT12.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 19CytoplasmicSequence analysisAdd BLAST19
Transmembranei20 – 37Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST18
Topological domaini38 – 581LumenalSequence analysisAdd BLAST544

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Colorectal cancer 1 (CRCS1)3 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry. The role of GALNT12 in colon cancer susceptibility is however subject to discussion: studies on 103 probants with colorectal cancer 1 (CRCS1) suggest that it does not act as a major contributor of CRCS1 (PubMed:24115450).1 Publication
Disease descriptionA complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history.
See also OMIM:608812
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_064357297R → W in CRCS1; germline mutation; partial loss of activity. 1 PublicationCorresponds to variant rs149726976dbSNPEnsembl.1
Natural variantiVAR_064358303D → N in CRCS1; germline mutation; reduction of activity. 2 PublicationsCorresponds to variant rs145236923dbSNPEnsembl.1
Natural variantiVAR_064359341E → D in CRCS1; somatic mutation; loss of activity. 1 Publication1
Natural variantiVAR_064360373R → H in CRCS1; germline mutation; partial loss of activity. 1 Publication1
Natural variantiVAR_064361382R → H in CRCS1; germline mutation; loss of activity. 1 Publication1
Natural variantiVAR_068509396Y → C in CRCS1. 1 Publication1
Natural variantiVAR_064362479C → F in CRCS1; somatic mutation; loss of activity. 1 Publication1
Natural variantiVAR_064363491T → M in CRCS1; germline mutation; loss of activity. 1 PublicationCorresponds to variant rs267606840dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi79695.
MalaCardsiGALNT12.
MIMi608812. phenotype.
OpenTargetsiENSG00000119514.
PharmGKBiPA134929192.

Polymorphism and mutation databases

BioMutaiGALNT12.
DMDMi84028209.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000591281 – 581Polypeptide N-acetylgalactosaminyltransferase 12Add BLAST581

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi125 ↔ 358PROSITE-ProRule annotation
Disulfide bondi349 ↔ 422PROSITE-ProRule annotation
Disulfide bondi458 ↔ 479PROSITE-ProRule annotation
Disulfide bondi506 ↔ 521PROSITE-ProRule annotation
Disulfide bondi547 ↔ 566PROSITE-ProRule annotation

Keywords - PTMi

Disulfide bond

Proteomic databases

EPDiQ8IXK2.
MaxQBiQ8IXK2.
PaxDbiQ8IXK2.
PeptideAtlasiQ8IXK2.
PRIDEiQ8IXK2.

PTM databases

iPTMnetiQ8IXK2.
PhosphoSitePlusiQ8IXK2.
SwissPalmiQ8IXK2.

Expressioni

Tissue specificityi

Widely expressed at different levels of expression. Highly expressed in digestive organs such as small intestine, stomach, pancreas and colon. Expressed at intermediate level in testis, thyroid gland and spleen. Weakly expressed in whole brain, cerebral cortex, cerebellum, fetal brain, bone marrow, thymus, leukocytes, heart, skeletal muscle, liver, lung, esophagus, kidney, adrenal gland, mammary gland, uterus, placenta, ovary and prostate.1 Publication

Gene expression databases

BgeeiENSG00000119514.
CleanExiHS_GALNT12.
ExpressionAtlasiQ8IXK2. baseline and differential.
GenevisibleiQ8IXK2. HS.

Organism-specific databases

HPAiHPA048292.

Interactioni

Protein-protein interaction databases

BioGridi122816. 25 interactors.
IntActiQ8IXK2. 11 interactors.
STRINGi9606.ENSP00000364150.

Structurei

3D structure databases

ProteinModelPortaliQ8IXK2.
SMRiQ8IXK2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini445 – 577Ricin B-type lectinPROSITE-ProRule annotationAdd BLAST133

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni135 – 244Catalytic subdomain AAdd BLAST110
Regioni304 – 366Catalytic subdomain BAdd BLAST63

Domaini

There are two conserved domains in the glycosyltransferase region: the N-terminal domain (domain A, also called GT1 motif), which is probably involved in manganese coordination and substrate binding and the C-terminal domain (domain B, also called Gal/GalNAc-T motif), which is probably involved in catalytic reaction and UDP-Gal binding.By similarity
The ricin B-type lectin domain binds to GalNAc and contributes to the glycopeptide specificity.By similarity

Sequence similaritiesi

Contains 1 ricin B-type lectin domain.PROSITE-ProRule annotation

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3736. Eukaryota.
ENOG410XPMK. LUCA.
GeneTreeiENSGT00760000118828.
HOGENOMiHOG000038227.
HOVERGENiHBG051699.
InParanoidiQ8IXK2.
KOiK00710.
OMAiEIRYNTH.
OrthoDBiEOG091G085O.
PhylomeDBiQ8IXK2.
TreeFamiTF352660.

Family and domain databases

Gene3Di3.90.550.10. 1 hit.
InterProiIPR001173. Glyco_trans_2-like.
IPR029044. Nucleotide-diphossugar_trans.
IPR000772. Ricin_B_lectin.
[Graphical view]
PfamiPF00535. Glycos_transf_2. 1 hit.
PF00652. Ricin_B_lectin. 1 hit.
[Graphical view]
SMARTiSM00458. RICIN. 1 hit.
[Graphical view]
SUPFAMiSSF50370. SSF50370. 1 hit.
SSF53448. SSF53448. 1 hit.
PROSITEiPS50231. RICIN_B_LECTIN. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8IXK2-1) [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
MWGRTARRRC PRELRRGREA LLVLLALLAL AGLGSVLRAQ RGAGAGAAEP
60 70 80 90 100
GPPRTPRPGR REPVMPRPPV PANALGARGE AVRLQLQGEE LRLQEESVRL
110 120 130 140 150
HQINIYLSDR ISLHRRLPER WNPLCKEKKY DYDNLPRTSV IIAFYNEAWS
160 170 180 190 200
TLLRTVYSVL ETSPDILLEE VILVDDYSDR EHLKERLANE LSGLPKVRLI
210 220 230 240 250
RANKREGLVR ARLLGASAAR GDVLTFLDCH CECHEGWLEP LLQRIHEEES
260 270 280 290 300
AVVCPVIDVI DWNTFEYLGN SGEPQIGGFD WRLVFTWHTV PERERIRMQS
310 320 330 340 350
PVDVIRSPTM AGGLFAVSKK YFEYLGSYDT GMEVWGGENL EFSFRIWQCG
360 370 380 390 400
GVLETHPCSH VGHVFPKQAP YSRNKALANS VRAAEVWMDE FKELYYHRNP
410 420 430 440 450
RARLEPFGDV TERKQLRDKL QCKDFKWFLE TVYPELHVPE DRPGFFGMLQ
460 470 480 490 500
NKGLTDYCFD YNPPDENQIV GHQVILYLCH GMGQNQFFEY TSQKEIRYNT
510 520 530 540 550
HQPEGCIAVE AGMDTLIMHL CEETAPENQK FILQEDGSLF HEQSKKCVQA
560 570 580
ARKESSDSFV PLLRDCTNSD HQKWFFKERM L
Length:581
Mass (Da):66,938
Last modified:December 20, 2005 - v3
Checksum:i8C001D58E103A523
GO
Isoform 2 (identifier: Q8IXK2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-309: Missing.

Note: No experimental confirmation available.
Show »
Length:272
Mass (Da):31,726
Checksum:i6E78ADD3FC84390F
GO

Sequence cautioni

The sequence BAB15027 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0643523G → E.1 Publication1
Natural variantiVAR_06435346G → R.1 PublicationCorresponds to variant rs10987768dbSNPEnsembl.1
Natural variantiVAR_064354119E → V.2 PublicationsCorresponds to variant rs1137654dbSNPEnsembl.1
Natural variantiVAR_064355261D → N.1 PublicationCorresponds to variant rs41306504dbSNPEnsembl.1
Natural variantiVAR_064356272G → R.1 PublicationCorresponds to variant rs367645298dbSNPEnsembl.1
Natural variantiVAR_064357297R → W in CRCS1; germline mutation; partial loss of activity. 1 PublicationCorresponds to variant rs149726976dbSNPEnsembl.1
Natural variantiVAR_064358303D → N in CRCS1; germline mutation; reduction of activity. 2 PublicationsCorresponds to variant rs145236923dbSNPEnsembl.1
Natural variantiVAR_064359341E → D in CRCS1; somatic mutation; loss of activity. 1 Publication1
Natural variantiVAR_064360373R → H in CRCS1; germline mutation; partial loss of activity. 1 Publication1
Natural variantiVAR_064361382R → H in CRCS1; germline mutation; loss of activity. 1 Publication1
Natural variantiVAR_068509396Y → C in CRCS1. 1 Publication1
Natural variantiVAR_064362479C → F in CRCS1; somatic mutation; loss of activity. 1 Publication1
Natural variantiVAR_064363491T → M in CRCS1; germline mutation; loss of activity. 1 PublicationCorresponds to variant rs267606840dbSNPEnsembl.1
Natural variantiVAR_064364552R → K.1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0112171 – 309Missing in isoform 2. 1 PublicationAdd BLAST309

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB078146 mRNA. Translation: BAC07181.1.
AJ132365 mRNA. Translation: CAC80100.2.
AL136084 Genomic DNA. Translation: CAI17042.1.
BC013945 mRNA. Translation: AAH13945.1.
AK024865 mRNA. Translation: BAB15027.1. Different initiation.
CCDSiCCDS6737.1. [Q8IXK2-1]
RefSeqiNP_078918.3. NM_024642.4. [Q8IXK2-1]
XP_006717350.1. XM_006717287.1.
UniGeneiHs.47099.

Genome annotation databases

EnsembliENST00000375011; ENSP00000364150; ENSG00000119514. [Q8IXK2-1]
GeneIDi79695.
KEGGihsa:79695.
UCSCiuc004ayz.3. human. [Q8IXK2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Functional Glycomics Gateway - GTase

Polypeptide N-acetylgalactosaminyltransferase 12

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB078146 mRNA. Translation: BAC07181.1.
AJ132365 mRNA. Translation: CAC80100.2.
AL136084 Genomic DNA. Translation: CAI17042.1.
BC013945 mRNA. Translation: AAH13945.1.
AK024865 mRNA. Translation: BAB15027.1. Different initiation.
CCDSiCCDS6737.1. [Q8IXK2-1]
RefSeqiNP_078918.3. NM_024642.4. [Q8IXK2-1]
XP_006717350.1. XM_006717287.1.
UniGeneiHs.47099.

3D structure databases

ProteinModelPortaliQ8IXK2.
SMRiQ8IXK2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122816. 25 interactors.
IntActiQ8IXK2. 11 interactors.
STRINGi9606.ENSP00000364150.

Protein family/group databases

CAZyiCBM13. Carbohydrate-Binding Module Family 13.
GT27. Glycosyltransferase Family 27.

PTM databases

iPTMnetiQ8IXK2.
PhosphoSitePlusiQ8IXK2.
SwissPalmiQ8IXK2.

Polymorphism and mutation databases

BioMutaiGALNT12.
DMDMi84028209.

Proteomic databases

EPDiQ8IXK2.
MaxQBiQ8IXK2.
PaxDbiQ8IXK2.
PeptideAtlasiQ8IXK2.
PRIDEiQ8IXK2.

Protocols and materials databases

DNASUi79695.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000375011; ENSP00000364150; ENSG00000119514. [Q8IXK2-1]
GeneIDi79695.
KEGGihsa:79695.
UCSCiuc004ayz.3. human. [Q8IXK2-1]

Organism-specific databases

CTDi79695.
DisGeNETi79695.
GeneCardsiGALNT12.
H-InvDBHIX0008226.
HGNCiHGNC:19877. GALNT12.
HPAiHPA048292.
MalaCardsiGALNT12.
MIMi608812. phenotype.
610290. gene.
neXtProtiNX_Q8IXK2.
OpenTargetsiENSG00000119514.
PharmGKBiPA134929192.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3736. Eukaryota.
ENOG410XPMK. LUCA.
GeneTreeiENSGT00760000118828.
HOGENOMiHOG000038227.
HOVERGENiHBG051699.
InParanoidiQ8IXK2.
KOiK00710.
OMAiEIRYNTH.
OrthoDBiEOG091G085O.
PhylomeDBiQ8IXK2.
TreeFamiTF352660.

Enzyme and pathway databases

UniPathwayiUPA00378.
BioCyciZFISH:HS12940-MONOMER.
BRENDAi2.4.1.41. 2681.
ReactomeiR-HSA-913709. O-linked glycosylation of mucins.

Miscellaneous databases

GenomeRNAii79695.
PROiQ8IXK2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000119514.
CleanExiHS_GALNT12.
ExpressionAtlasiQ8IXK2. baseline and differential.
GenevisibleiQ8IXK2. HS.

Family and domain databases

Gene3Di3.90.550.10. 1 hit.
InterProiIPR001173. Glyco_trans_2-like.
IPR029044. Nucleotide-diphossugar_trans.
IPR000772. Ricin_B_lectin.
[Graphical view]
PfamiPF00535. Glycos_transf_2. 1 hit.
PF00652. Ricin_B_lectin. 1 hit.
[Graphical view]
SMARTiSM00458. RICIN. 1 hit.
[Graphical view]
SUPFAMiSSF50370. SSF50370. 1 hit.
SSF53448. SSF53448. 1 hit.
PROSITEiPS50231. RICIN_B_LECTIN. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiGLT12_HUMAN
AccessioniPrimary (citable) accession number: Q8IXK2
Secondary accession number(s): Q5TCF7
, Q8NG54, Q96CT9, Q9H771
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: December 20, 2005
Last modified: November 30, 2016
This is version 140 of the entry and version 3 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 9
    Human chromosome 9: 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. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. 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.