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

    Gene ID: 11227, updated on 28-Oct-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
    mouse all
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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. 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.
    2. 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.
    3. 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.
    4. 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

    Gene LinkOut

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