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GALNT5 polypeptide N-acetylgalactosaminyltransferase 5 [ Homo sapiens (human) ]

Gene ID: 11227, updated on 2-Nov-2024

Summary

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Official Symbol
GALNT5provided by HGNC
Official Full Name
polypeptide N-acetylgalactosaminyltransferase 5provided by HGNC
Primary source
HGNC:HGNC:4127
See related
Ensembl:ENSG00000136542 MIM:615129; AllianceGenome:HGNC:4127
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
GALNACT5; GALNAC-T5
Summary
The protein encoded by this gene is a membrane-bound polypeptide N-acetylgalactosaminyltransferase that is found in the Golgi. The encoded protein catalyzes the first step in the mucin-type O-glycosylation of Golgi proteins, transfering an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. [provided by RefSeq, Aug 2016]
Expression
Biased expression in colon (RPKM 10.1), lung (RPKM 7.0) and 7 other tissues See more
Orthologs
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Genomic context

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See GALNT5 in Genome Data Viewer
Location:
2q24.1
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (157257705..157318491)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (157710672..157771631)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (158114217..158175003)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373710 Neighboring gene uncharacterized LOC105373709 Neighboring gene VISTA enhancer hs415 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:158021454-158021980 Neighboring gene cyclin dependent kinase 7 pseudogene 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:158102473-158103672 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12024 Neighboring gene RN7SK pseudogene 281 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:158182220-158182769 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:158202021-158202873 Neighboring gene ermin Neighboring gene family with sequence similarity 133, member A pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. Clinical significance of polypeptide N-acetylgalactosaminyl transferase-5 (GalNAc-T5) expression in patients with gastric cancer. He H, et al. Br J Cancer, 2014 Apr 15. PMID 24619076, Free PMC Article
  2. GALNT5 uaRNA promotes gastric cancer progression through its interaction with HSP90. Guo H, et al. Oncogene, 2018 Aug. PMID 29743591
  3. Probing the O-glycoproteome of gastric cancer cell lines for biomarker discovery. Campos D, et al. Mol Cell Proteomics, 2015 Jun. PMID 25813380, Free PMC Article
  4. miR-196b-5p Regulates Colorectal Cancer Cell Migration and Metastases through Interaction with HOXB7 and GALNT5. Stiegelbauer V, et al. Clin Cancer Res, 2017 Sep 1. PMID 28533224
  5. A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses. Simmons AD, et al. Hum Mol Genet, 1999 Nov. PMID 10545594

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Oncogenic GALNT5 confers FOLFIRINOX resistance via activating the MYH9/ NOTCH/ DDR axis in pancreatic ductal adenocarcinoma.
    Title: Oncogenic GALNT5 confers FOLFIRINOX resistance via activating the MYH9/ NOTCH/ DDR axis in pancreatic ductal adenocarcinoma.
  2. The 5'-end stem-loop motifs of GALNT5 uaRNA promoted the binding of HSP90.
    Title: GALNT5 uaRNA promotes gastric cancer progression through its interaction with HSP90.
  3. miR-196b-5p inhibition led to significantly increased colorectal cancer cell migration/invasion and metastases formation in mice, whereas ectopic overexpression showed the opposite phenotype. Molecular profiling and target confirmation identified an interaction between miR-196b-5p and HOXB7 and GALNT5, which in turn regulated colorectal cancer cell migration
    Title: miR-196b-5p Regulates Colorectal Cancer Cell Migration and Metastases through Interaction with HOXB7 and GALNT5.
  4. Two identified candidate O-glycoprotein biomarkers (CD44 and GalNAc-T5) circulating with the STn glycoform were further validated as being expressed in gastric cancer tissue
    Title: Probing the O-glycoproteome of gastric cancer cell lines for biomarker discovery.
  5. of GalNAc-T5 expression in gastric cancer tissues might add some prognostic information for patients with this disease and lead to a more accurate classification under the TNM stage system
    Title: Clinical significance of polypeptide N-acetylgalactosaminyl transferase-5 (GalNAc-T5) expression in patients with gastric cancer.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC165041

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables carbohydrate binding IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables polypeptide N-acetylgalactosaminyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables polypeptide N-acetylgalactosaminyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables polypeptide N-acetylgalactosaminyltransferase activity TAS
Traceable Author Statement
more info
  
Process Evidence Code Pubs
involved_in O-glycan processing TAS
Traceable Author Statement
more info
  
involved_in glycosaminoglycan biosynthetic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in protein O-linked glycosylation IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in Golgi membrane TAS
Traceable Author Statement
more info
  
is_active_in cellular_component ND
No biological Data available
more info
  

General protein information

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Preferred Names
polypeptide N-acetylgalactosaminyltransferase 5
Names
UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 5
UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)
polypeptide GalNAc transferase 5
pp-GaNTase 5
protein-UDP acetylgalactosaminyltransferase 5
NP_001316797.1
NP_055383.1
XP_016858726.1
XP_016858727.1
XP_047299026.1
XP_054196268.1
XP_054196269.1
XP_054196270.1

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001329868.2 → NP_001316797.1  polypeptide N-acetylgalactosaminyltransferase 5 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate exon compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC016732, AY277591, BC142676, BC144211, BX117716
    UniProtKB/Swiss-Prot
    Q7Z7M9

  2. NM_014568.3 → NP_055383.1  polypeptide N-acetylgalactosaminyltransferase 5 isoform 1

    See identical proteins and their annotated locations for NP_055383.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC016732, AY277591, BC142676, BX117716
    Consensus CDS
    CCDS2203.1
    UniProtKB/Swiss-Prot
    A5PKZ1, Q7Z7M9, Q9UGK7, Q9UHL6
    Related
    ENSP00000259056.4, ENST00000259056.5
    Conserved Domains (4) summary
    cd02510
    Location:499 → 800
    pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
    COG0463
    Location:494 → 609
    WcaA; Glycosyltransferase involved in cell wall bisynthesis [Cell wall/membrane/envelope biogenesis]
    cd00161
    Location:812 → 934
    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:810 → 932
    Ricin_B_lectin; Ricin-type beta-trefoil lectin domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    157257705..157318491
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017003237.3 → XP_016858726.1  polypeptide N-acetylgalactosaminyltransferase 5 isoform X1

  2. XM_047443070.1 → XP_047299026.1  polypeptide N-acetylgalactosaminyltransferase 5 isoform X3

  3. XM_017003238.3 → XP_016858727.1  polypeptide N-acetylgalactosaminyltransferase 5 isoform X2

    UniProtKB/TrEMBL
    A5PL16

RNA

  1. XR_007068940.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    157710672..157771631
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054340295.1 → XP_054196270.1  polypeptide N-acetylgalactosaminyltransferase 5 isoform X3

  2. XM_054340293.1 → XP_054196268.1  polypeptide N-acetylgalactosaminyltransferase 5 isoform X1

  3. XM_054340294.1 → XP_054196269.1  polypeptide N-acetylgalactosaminyltransferase 5 isoform X2

RNA

  1. XR_008486254.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q7Z7M9.1 GenPept UniProtKB/Swiss-Prot:Q7Z7M9

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