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GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 [ Homo sapiens (human) ]

Gene ID: 79695, updated on 17-Jun-2019

Summary

Official Symbol
GALNT12provided by HGNC
Official Full Name
polypeptide N-acetylgalactosaminyltransferase 12provided by HGNC
Primary source
HGNC:HGNC:19877
See related
Ensembl:ENSG00000119514 MIM:610290
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CRCS1; GalNAc-T12
Summary
This gene encodes a member of a family of UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferases, which catalyze the transfer of N-acetylgalactosamine (GalNAc) from UDP-GalNAc to a serine or threonine residue on a polypeptide acceptor in the initial step of O-linked protein glycosylation. Mutations in this gene are associated with an increased susceptibility to colorectal cancer.[provided by RefSeq, Mar 2011]
Expression
Biased expression in colon (RPKM 24.5), stomach (RPKM 17.8) and 12 other tissues See more
Orthologs

Genomic context

See GALNT12 in Genome Data Viewer
Location:
9q22.33
Exon count:
13
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (98807670..98850081)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (101569981..101612363)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 5777 Neighboring gene ankyrin repeat and sterile alpha motif domain containing 6 Neighboring gene uncharacterized LOC102724684 Neighboring gene NME/NM23 nucleoside diphosphate kinase 2 pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ21212

Gene Ontology Provided by GOA

Function Evidence Code Pubs
carbohydrate binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
polypeptide N-acetylgalactosaminyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
O-glycan processing TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Golgi membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
polypeptide N-acetylgalactosaminyltransferase 12
Names
UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 12
UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)
colorectal cancer, susceptibility to 1
polypeptide GalNAc transferase 12
pp-GaNTase 12
protein-UDP acetylgalactosaminyltransferase 12
NP_078918.3
XP_006717350.1
XP_011517320.1
XP_011517322.1
XP_016870622.1
XP_024303441.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_028218.1 RefSeqGene

    Range
    5001..47383
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_024642.5NP_078918.3  polypeptide N-acetylgalactosaminyltransferase 12

    See identical proteins and their annotated locations for NP_078918.3

    Status: REVIEWED

    Source sequence(s)
    AB078146, AJ132365, AK024865, AL136084, CB243715
    Consensus CDS
    CCDS6737.1
    UniProtKB/Swiss-Prot
    Q8IXK2
    Related
    ENSP00000364150.3, ENST00000375011.4
    Conserved Domains (4) summary
    cd02510
    Location:139433
    pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
    COG0463
    Location:134429
    WcaA; Glycosyltransferase involved in cell wall bisynthesis [Cell wall/membrane/envelope biogenesis]
    cd00161
    Location:447576
    RICIN; Ricin-type beta-trefoil; Carbohydrate-binding domain formed from presumed gene triplication. The domain is found in a variety of molecules serving diverse functions such as enzymatic activity, inhibitory toxicity and signal transduction. Highly specific ...
    pfam00652
    Location:445574
    Ricin_B_lectin; Ricin-type beta-trefoil lectin domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    98807670..98850081
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011519020.1XP_011517322.1  polypeptide N-acetylgalactosaminyltransferase 12 isoform X3

    Conserved Domains (3) summary
    cd00161
    Location:211340
    RICIN; Ricin-type beta-trefoil; Carbohydrate-binding domain formed from presumed gene triplication. The domain is found in a variety of molecules serving diverse functions such as enzymatic activity, inhibitory toxicity and signal transduction. Highly specific ...
    pfam00652
    Location:209338
    Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
    cl11394
    Location:8197
    Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
  2. XM_024447673.1XP_024303441.1  polypeptide N-acetylgalactosaminyltransferase 12 isoform X5

    Conserved Domains (2) summary
    cd00161
    Location:181310
    RICIN; Ricin-type beta-trefoil; Carbohydrate-binding domain formed from presumed gene triplication. The domain is found in a variety of molecules serving diverse functions such as enzymatic activity, inhibitory toxicity and signal transduction. Highly specific ...
    cl11394
    Location:80167
    Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
  3. XM_006717287.1XP_006717350.1  polypeptide N-acetylgalactosaminyltransferase 12 isoform X4

    See identical proteins and their annotated locations for XP_006717350.1

    UniProtKB/Swiss-Prot
    Q8IXK2
    Conserved Domains (3) summary
    cd00161
    Location:150279
    RICIN; Ricin-type beta-trefoil; Carbohydrate-binding domain formed from presumed gene triplication. The domain is found in a variety of molecules serving diverse functions such as enzymatic activity, inhibitory toxicity and signal transduction. Highly specific ...
    pfam00652
    Location:148277
    Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
    cl11394
    Location:2136
    Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
  4. XM_011519018.3XP_011517320.1  polypeptide N-acetylgalactosaminyltransferase 12 isoform X1

    Conserved Domains (4) summary
    cd02510
    Location:65359
    pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
    COG0463
    Location:60355
    WcaA; Glycosyltransferase involved in cell wall bisynthesis [Cell wall/membrane/envelope biogenesis]
    cd00161
    Location:373502
    RICIN; Ricin-type beta-trefoil; Carbohydrate-binding domain formed from presumed gene triplication. The domain is found in a variety of molecules serving diverse functions such as enzymatic activity, inhibitory toxicity and signal transduction. Highly specific ...
    pfam00652
    Location:371500
    Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
  5. XM_017015133.1XP_016870622.1  polypeptide N-acetylgalactosaminyltransferase 12 isoform X2

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