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UniProtKB - Q8IXK2 (GLT12_HUMAN)

Protein

Polypeptide N-acetylgalactosaminyltransferase 12

Gene

GALNT12

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

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.

<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

<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

Mn2+By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>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
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei176SubstrateBy similarity1
Binding sitei205SubstrateBy similarity1
<p>This subsection of the ‘Function’ 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 bindingi228ManganeseBy similarity1
Metal bindingi230ManganeseBy similarity1
Binding sitei335SubstrateBy similarity1
Metal bindingi363ManganeseBy similarity1
Binding sitei371SubstrateBy similarity1

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

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the 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 functionGlycosyltransferase, Transferase
LigandLectin, Manganese, Metal-binding

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		2.4.1.41 2681

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-5083636 Defective GALNT12 causes colorectal cancer 1 (CRCS1)
R-HSA-913709 O-linked glycosylation of mucins

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...UniPathwayi
UPA00378

Protein family/group databases

Carbohydrate-Active enZymes

More...CAZyi		CBM13 Carbohydrate-Binding Module Family 13
GT27 Glycosyltransferase Family 27

<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:
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
<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:GALNT12
<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 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_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 9

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000119514.6

Human Gene Nomenclature Database

More...HGNCi		HGNC:19877 GALNT12

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		610290 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8IXK2

<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; 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 – 19CytoplasmicSequence analysisAdd BLAST19
<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>Transmembranei20 – 37Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST18
Topological domaini38 – 581LumenalSequence analysisAdd BLAST544

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

<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

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
<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_064357297R → W in CRCS1; germline mutation; partial loss of activity. 1 PublicationCorresponds to variant dbSNP:rs149726976EnsemblClinVar.1
Natural variantiVAR_064358303D → N in CRCS1; germline mutation; reduction of activity. 2 PublicationsCorresponds to variant dbSNP:rs145236923EnsemblClinVar.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 PublicationCorresponds to variant dbSNP:rs920049418Ensembl.1
Natural variantiVAR_064361382R → H in CRCS1; germline mutation; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs868590153EnsemblClinVar.1
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 dbSNP:rs267606840EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		79695

MalaCards human disease database

More...MalaCardsi		GALNT12
MIMi608812 phenotype

Open Targets

More...OpenTargetsi		ENSG00000119514

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134929192

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		GALNT12

Domain mapping of disease mutations (DMDM)

More...DMDMi		84028209

<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_00000591281 – 581Polypeptide N-acetylgalactosaminyltransferase 12Add BLAST581

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>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

Encyclopedia of Proteome Dynamics

More...EPDi		Q8IXK2

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q8IXK2

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

More...PaxDbi		Q8IXK2

PeptideAtlas

More...PeptideAtlasi		Q8IXK2

PRoteomics IDEntifications database

More...PRIDEi		Q8IXK2

ProteomicsDB human proteome resource

More...ProteomicsDBi		71019
71020 [Q8IXK2-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8IXK2

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

More...PhosphoSitePlusi		Q8IXK2

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q8IXK2

<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

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

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000119514 Expressed in 177 organ(s), highest expression level in palpebral conjunctiva

CleanEx database of gene expression profiles

More...CleanExi		HS_GALNT12

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8IXK2 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8IXK2 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA048292

<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		122816, 32 interactors

Protein interaction database and analysis system

More...IntActi		Q8IXK2, 11 interactors

Molecular INTeraction database

More...MINTi		Q8IXK2

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000364150

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		Q8IXK2

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

More...SMRi		Q8IXK2

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini445 – 577Ricin B-type lectinPROSITE-ProRule annotationAdd BLAST133

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>Regioni135 – 244Catalytic subdomain AAdd BLAST110
Regioni304 – 366Catalytic subdomain BAdd BLAST63

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>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

<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 glycosyltransferase 2 family. GalNAc-T subfamily.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3736 Eukaryota
ENOG410XPMK LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000157173

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000038227

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG051699

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8IXK2

KEGG Orthology (KO)

More...KOi		K00710

Identification of Orthologs from Complete Genome Data

More...OMAi		ERWNPLC

Database of Orthologous Groups

More...OrthoDBi		EOG091G085O

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8IXK2

TreeFam database of animal gene trees

More...TreeFami		TF352660

Family and domain databases

Conserved Domains Database

More...CDDi		cd00161 RICIN, 1 hit

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
IPR001173 Glyco_trans_2-like
IPR029044 Nucleotide-diphossugar_trans
IPR035992 Ricin_B-like_lectins
IPR000772 Ricin_B_lectin

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00535 Glycos_transf_2, 1 hit
PF00652 Ricin_B_lectin, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00458 RICIN, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF50370 SSF50370, 1 hit
SSF53448 SSF53448, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50231 RICIN_B_LECTIN, 1 hit

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

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

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

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

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
<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: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

<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
A0A087WT76A0A087WT76_HUMAN
Polypeptide N-acetylgalactosaminylt...
GALNT12
31Annotation 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>

<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 BAB15027 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0643523G → E1 Publication1
Natural variantiVAR_06435346G → R1 PublicationCorresponds to variant dbSNP:rs10987768EnsemblClinVar.1
Natural variantiVAR_064354119E → V2 PublicationsCorresponds to variant dbSNP:rs1137654EnsemblClinVar.1
Natural variantiVAR_064355261D → N1 PublicationCorresponds to variant dbSNP:rs41306504EnsemblClinVar.1
Natural variantiVAR_064356272G → R1 PublicationCorresponds to variant dbSNP:rs367645298EnsemblClinVar.1
Natural variantiVAR_064357297R → W in CRCS1; germline mutation; partial loss of activity. 1 PublicationCorresponds to variant dbSNP:rs149726976EnsemblClinVar.1
Natural variantiVAR_064358303D → N in CRCS1; germline mutation; reduction of activity. 2 PublicationsCorresponds to variant dbSNP:rs145236923EnsemblClinVar.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 PublicationCorresponds to variant dbSNP:rs920049418Ensembl.1
Natural variantiVAR_064361382R → H in CRCS1; germline mutation; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs868590153EnsemblClinVar.1
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 dbSNP:rs267606840EnsemblClinVar.1
Natural variantiVAR_064364552R → K1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0112171 – 309Missing in isoform 2. 1 PublicationAdd BLAST309

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
AB078146 mRNA Translation: BAC07181.1
AJ132365 mRNA Translation: CAC80100.2
AL136084 Genomic DNA No translation available.
BC013945 mRNA Translation: AAH13945.1
AK024865 mRNA Translation: BAB15027.1 Different initiation.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS6737.1 [Q8IXK2-1]

NCBI Reference Sequences

More...RefSeqi		NP_078918.3, NM_024642.4 [Q8IXK2-1]
XP_006717350.1, XM_006717287.1

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.47099

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000375011; ENSP00000364150; ENSG00000119514 [Q8IXK2-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		79695

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:79695

UCSC genome browser

More...UCSCi		uc004ayz.3 human [Q8IXK2-1]

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

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 No translation available.
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, 32 interactors
IntActiQ8IXK2, 11 interactors
MINTiQ8IXK2
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
ProteomicsDBi71019
71020 [Q8IXK2-2]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		79695
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		79695
DisGeNETi79695
EuPathDBiHostDB:ENSG00000119514.6

GeneCards: human genes, protein and diseases

More...GeneCardsi		GALNT12

H-Invitational Database, human transcriptome db

More...H-InvDBi		HIX0008226
HGNCiHGNC:19877 GALNT12
HPAiHPA048292
MalaCardsiGALNT12
MIMi608812 phenotype
610290 gene
neXtProtiNX_Q8IXK2
OpenTargetsiENSG00000119514
PharmGKBiPA134929192

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3736 Eukaryota
ENOG410XPMK LUCA
GeneTreeiENSGT00940000157173
HOGENOMiHOG000038227
HOVERGENiHBG051699
InParanoidiQ8IXK2
KOiK00710
OMAiERWNPLC
OrthoDBiEOG091G085O
PhylomeDBiQ8IXK2
TreeFamiTF352660

Enzyme and pathway databases

UniPathwayi
UPA00378

BRENDAi2.4.1.41 2681
ReactomeiR-HSA-5083636 Defective GALNT12 causes colorectal cancer 1 (CRCS1)
R-HSA-913709 O-linked glycosylation of mucins

Miscellaneous databases

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

More...ChiTaRSi		GALNT12 human

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

More...GenomeRNAii		79695

Protein Ontology

More...PROi		PR:Q8IXK2

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000119514 Expressed in 177 organ(s), highest expression level in palpebral conjunctiva
CleanExiHS_GALNT12
ExpressionAtlasiQ8IXK2 baseline and differential
GenevisibleiQ8IXK2 HS

Family and domain databases

CDDicd00161 RICIN, 1 hit
Gene3Di3.90.550.10, 1 hit
InterProiView protein in InterPro
IPR001173 Glyco_trans_2-like
IPR029044 Nucleotide-diphossugar_trans
IPR035992 Ricin_B-like_lectins
IPR000772 Ricin_B_lectin
PfamiView protein in Pfam
PF00535 Glycos_transf_2, 1 hit
PF00652 Ricin_B_lectin, 1 hit
SMARTiView protein in SMART
SM00458 RICIN, 1 hit
SUPFAMiSSF50370 SSF50370, 1 hit
SSF53448 SSF53448, 1 hit
PROSITEiView protein in PROSITE
PS50231 RICIN_B_LECTIN, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		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 nameiGLT12_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: Q8IXK2
Secondary accession number(s): Q5TCF7
, Q8NG54, Q96CT9, Q9H771
<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: August 16, 2004
Last sequence update: December 20, 2005
Last modified: December 5, 2018
This is version 155 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
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