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GALNT14 polypeptide N-acetylgalactosaminyltransferase 14 [ Homo sapiens (human) ]

Gene ID: 79623, updated on 13-Mar-2020

Summary

Official Symbol
GALNT14provided by HGNC
Official Full Name
polypeptide N-acetylgalactosaminyltransferase 14provided by HGNC
Primary source
HGNC:HGNC:22946
See related
Ensembl:ENSG00000158089 MIM:608225
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
GALNT15; GalNac-T10; GalNac-T14
Summary
This gene encodes a Golgi protein which is a member of the polypeptide N-acetylgalactosaminyltransferase (ppGalNAc-Ts) protein family. These enzymes catalyze the transfer of N-acetyl-D-galactosamine (GalNAc) to the hydroxyl groups on serines and threonines in target peptides. The encoded protein has been shown to transfer GalNAc to large proteins like mucins. Alterations in this gene may play a role in cancer progression and response to chemotherapy. [provided by RefSeq, Jun 2016]
Expression
Biased expression in kidney (RPKM 5.0), esophagus (RPKM 0.7) and 7 other tissues See more
Orthologs

Genomic context

See GALNT14 in Genome Data Viewer
Location:
2p23.1
Exon count:
22
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (30888518..31138440, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (31133331..31361592, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene calpain 13 Neighboring gene uncharacterized LOC105374435 Neighboring gene uncharacterized LOC107985861 Neighboring gene calpain 14 Neighboring gene RNA, 5S ribosomal pseudogene 90

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 Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12691, FLJ13977

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 14
Names
UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 14
UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase T10
UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)
polypeptide GalNAc transferase 14
polypeptide N-acetylgalactosaminyltransferase 15
pp-GaNTase 14
protein-UDP acetylgalactosaminyltransferase 14
NP_001240755.1
NP_001240756.1
NP_001316024.1
NP_001316025.1
NP_001316026.1
NP_078848.2
XP_016860395.1
XP_016860396.1

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_051040.1 RefSeqGene

    Range
    5287..233260
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001253826.2NP_001240755.1  polypeptide N-acetylgalactosaminyltransferase 14 isoform 2

    See identical proteins and their annotated locations for NP_001240755.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains two alternate in-frame exons and lacks an alternate in-frame exon in the 5' coding region compared to variant 1. The resulting protein (isoform 2) is longer compared to isoform 1.
    Source sequence(s)
    AC009301, AC015980, AK022753
    Consensus CDS
    CCDS58706.1
    UniProtKB/Swiss-Prot
    Q96FL9
    Related
    ENSP00000314500.5, ENST00000324589.9
    Conserved Domains (4) summary
    cd02510
    Location:119413
    pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
    cd00161
    Location:427554
    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:427552
    Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
    pfam13641
    Location:116342
    Glyco_tranf_2_3; Glycosyltransferase like family 2
  2. NM_001253827.1NP_001240756.1  polypeptide N-acetylgalactosaminyltransferase 14 isoform 3

    See identical proteins and their annotated locations for NP_001240756.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding region compared to variant 1. The resulting protein (isoform 3) is shorter and has a distinct N-terminus compared to isoform 1. Variants 3 and 5 encode the same isoform.
    Source sequence(s)
    AC009301, AC009305, AK122747, DA752701
    Consensus CDS
    CCDS58705.1
    UniProtKB/Swiss-Prot
    Q96FL9
    Related
    ENSP00000385435.1, ENST00000406653.5
    Conserved Domains (4) summary
    cd02510
    Location:94388
    pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
    cd00161
    Location:402529
    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:402527
    Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
    pfam13641
    Location:91317
    Glyco_tranf_2_3; Glycosyltransferase like family 2
  3. NM_001329095.2NP_001316024.1  polypeptide N-acetylgalactosaminyltransferase 14 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains an alternate 5' exon and uses a downstream start codon, compared to variant 1. The encoded isoform (4) has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC009301, AK298735, BC006269, BC010659
    UniProtKB/Swiss-Prot
    Q96FL9
    UniProtKB/TrEMBL
    B7Z5C5
  4. NM_001329096.2NP_001316025.1  polypeptide N-acetylgalactosaminyltransferase 14 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) includes two alternate 5' exons and uses a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter and distinct N-terminus, compared to isoform 1. Variants 3 and 5 encode the same isoform.
    Source sequence(s)
    AC009301, AC009305, AC015980
    Consensus CDS
    CCDS58705.1
    UniProtKB/Swiss-Prot
    Q96FL9
    Conserved Domains (4) summary
    cd02510
    Location:94388
    pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
    cd00161
    Location:402529
    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:402527
    Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
    pfam13641
    Location:91317
    Glyco_tranf_2_3; Glycosyltransferase like family 2
  5. NM_001329097.2NP_001316026.1  polypeptide N-acetylgalactosaminyltransferase 14 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks two exons in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (6) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC009301, AC009305, AC015980
  6. NM_024572.4NP_078848.2  polypeptide N-acetylgalactosaminyltransferase 14 isoform 1

    See identical proteins and their annotated locations for NP_078848.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AY358758, BC010659
    Consensus CDS
    CCDS1773.2
    UniProtKB/Swiss-Prot
    Q96FL9
    Related
    ENSP00000288988.6, ENST00000349752.10
    Conserved Domains (4) summary
    cd02510
    Location:114408
    pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
    cd00161
    Location:422549
    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:422547
    Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
    pfam13641
    Location:111337
    Glyco_tranf_2_3; Glycosyltransferase like family 2

RefSeqs of Annotated Genomes: Homo sapiens Updated 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_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    30888518..31138440 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017004907.1XP_016860396.1  polypeptide N-acetylgalactosaminyltransferase 14 isoform X2

  2. XM_017004906.1XP_016860395.1  polypeptide N-acetylgalactosaminyltransferase 14 isoform X1

RNA

  1. XR_001738943.1 RNA Sequence

  2. XR_001738941.1 RNA Sequence

  3. XR_001738942.1 RNA Sequence

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