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    GALNTL6 polypeptide N-acetylgalactosaminyltransferase like 6 [ Homo sapiens (human) ]

    Gene ID: 442117, updated on 10-Dec-2024

    Summary

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    Official Symbol
    GALNTL6provided by HGNC
    Official Full Name
    polypeptide N-acetylgalactosaminyltransferase like 6provided by HGNC
    Primary source
    HGNC:HGNC:33844
    See related
    Ensembl:ENSG00000174473 MIM:615138; AllianceGenome:HGNC:33844
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GALNT17; GALNACT20; GalNAc-T6L
    Summary
    Enables polypeptide N-acetylgalactosaminyltransferase activity. Involved in protein O-linked glycosylation via threonine. Predicted to be located in Golgi membrane. Predicted to be active in Golgi apparatus. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See GALNTL6 in Genome Data Viewer
    Location:
    4q34.1
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (171813404..173041559)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (175165678..176380965)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (172734555..173962710)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377535 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15800 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15801 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22150 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22151 Neighboring gene long intergenic non-protein coding RNA 2174 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15802 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22152 Neighboring gene uncharacterized LOC441052 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:172823942-172824554 Neighboring gene Sharpr-MPRA regulatory region 892 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:172914347-172914881 Neighboring gene uncharacterized LOC124900811 Neighboring gene ubiquitin conjugating enzyme E2 N pseudogene Neighboring gene GALNTL6 antisense RNA 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:173630272-173631010 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:173730432-173730959 Neighboring gene uncharacterized LOC107986201 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:173896580-173897080 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22153 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:173991635-173992284 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:173994926-173995724 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:173995725-173996523 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:174004943-174005676 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22154 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22155 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15803 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15804 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15805 Neighboring gene GALNT7 divergent transcript Neighboring gene RNA, 7SL, cytoplasmic 253, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:174147305-174147821 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:174147822-174148337 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15806 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15807 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22156 Neighboring gene uncharacterized LOC124900812 Neighboring gene polypeptide N-acetylgalactosaminyltransferase 7 Neighboring gene microRNA 548t

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. The GALNTL6 Gene rs558129 Polymorphism Is Associated With Power Performance. Díaz Ramírez J, et al. J Strength Cond Res, 2020 Nov. PMID 33105351, Free PMC Article
    2. Identification of a novel human UDP-GalNAc transferase with unique catalytic activity and expression profile. Peng C, et al. Biochem Biophys Res Commun, 2010 Nov 26. PMID 20977886
    3. UDP-N-acetyl-α-D-galactosamine:polypeptide N-acetylgalactosaminyltransferases: completion of the family tree. Raman J, et al. Glycobiology, 2012 Jun. PMID 22186971, Free PMC Article
    4. Molecular genetics of successful smoking cessation: convergent genome-wide association study results. Uhl GR, et al. Arch Gen Psychiatry, 2008 Jun. PMID 18519826, Free PMC Article
    5. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. Khanna R, et al. FEBS J, 2018 Jun. PMID 29676528

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The GALNTL6 Gene rs558129 Polymorphism Is Associated With Power Performance.
      Title: The GALNTL6 Gene rs558129 Polymorphism Is Associated With Power Performance.
    2. a novel member of the human ppGalNAc-T family, ppGalNAc-T20, which has high homology with human ppGalNAc-T10 was identified.
      Title: Identification of a novel human UDP-GalNAc transferase with unique catalytic activity and expression profile.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    4. Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Molecular genetics of successful smoking cessation: convergent genome-wide association study results.
    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)

    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

    • MGC44629

    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 
    Process Evidence Code Pubs
    involved_in protein O-linked glycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein O-linked glycosylation via threonine IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    polypeptide N-acetylgalactosaminyltransferase-like 6
    Names
    GaNTase 17
    GalNAc transferase 17
    UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 17
    UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 20
    UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6
    galNAc-T17
    polypeptide GalNAc transferase 17
    polypeptide GalNAc transferase-like 6
    pp-GaNTase 17
    protein-UDP acetylgalactosaminyltransferase 17
    putative polypeptide N-acetylgalactosaminyltransferase 17
    NP_001030017.2
    XP_011530295.1
    XP_011530296.1
    XP_011530297.1
    XP_011530298.1
    XP_011530299.1
    XP_016863732.1
    XP_016863733.1
    XP_054206062.1
    XP_054206063.1
    XP_054206064.1
    XP_054206065.1
    XP_054206066.1
    XP_054206067.1
    XP_054206068.1

    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_001034845.3 → NP_001030017.2  polypeptide N-acetylgalactosaminyltransferase-like 6

      See identical proteins and their annotated locations for NP_001030017.2

      Status: VALIDATED

      Source sequence(s)
      AC025561, AC131952, AJ626725, BX108658
      Consensus CDS
      CCDS34104.1
      UniProtKB/Swiss-Prot
      Q2L4S6, Q49A17
      UniProtKB/TrEMBL
      E5D8G0
      Related
      ENSP00000423313.1, ENST00000506823.6
      Conserved Domains (4) summary
      cd02510
      Location:143 → 438
      pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
      cd00161
      Location:456 → 584
      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:454 → 582
      Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
      pfam13641
      Location:140 → 365
      Glyco_tranf_2_3; Glycosyltransferase like family 2

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      171813404..173041559
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017008243.3 → XP_016863732.1  polypeptide N-acetylgalactosaminyltransferase-like 6 isoform X4

    2. XM_017008244.3 → XP_016863733.1  polypeptide N-acetylgalactosaminyltransferase-like 6 isoform X5

      Related
      ENSP00000423827.1, ENST00000508122.5

    3. XM_011531993.3 → XP_011530295.1  polypeptide N-acetylgalactosaminyltransferase-like 6 isoform X1

      See identical proteins and their annotated locations for XP_011530295.1

      Conserved Domains (4) summary
      cd02510
      Location:64 → 359
      pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
      cd00161
      Location:377 → 505
      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:375 → 503
      Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
      pfam13641
      Location:61 → 286
      Glyco_tranf_2_3; Glycosyltransferase like family 2

    4. XM_011531996.2 → XP_011530298.1  polypeptide N-acetylgalactosaminyltransferase-like 6 isoform X2

      See identical proteins and their annotated locations for XP_011530298.1

      Conserved Domains (3) summary
      cd02510
      Location:34 → 288
      pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
      cd00161
      Location:306 → 434
      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:304 → 432
      Ricin_B_lectin; Ricin-type beta-trefoil lectin domain

    5. XM_011531994.2 → XP_011530296.1  polypeptide N-acetylgalactosaminyltransferase-like 6 isoform X2

      See identical proteins and their annotated locations for XP_011530296.1

      Conserved Domains (3) summary
      cd02510
      Location:34 → 288
      pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
      cd00161
      Location:306 → 434
      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:304 → 432
      Ricin_B_lectin; Ricin-type beta-trefoil lectin domain

    6. XM_011531995.2 → XP_011530297.1  polypeptide N-acetylgalactosaminyltransferase-like 6 isoform X2

      See identical proteins and their annotated locations for XP_011530297.1

      Conserved Domains (3) summary
      cd02510
      Location:34 → 288
      pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
      cd00161
      Location:306 → 434
      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:304 → 432
      Ricin_B_lectin; Ricin-type beta-trefoil lectin domain

    7. XM_011531997.2 → XP_011530299.1  polypeptide N-acetylgalactosaminyltransferase-like 6 isoform X3

      Conserved Domains (3) summary
      cd02510
      Location:2 → 255
      pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
      cd00161
      Location:273 → 401
      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:271 → 399
      Ricin_B_lectin; Ricin-type beta-trefoil lectin domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      175165678..176380965
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350092.1 → XP_054206067.1  polypeptide N-acetylgalactosaminyltransferase-like 6 isoform X4

    2. XM_054350093.1 → XP_054206068.1  polypeptide N-acetylgalactosaminyltransferase-like 6 isoform X5

    3. XM_054350087.1 → XP_054206062.1  polypeptide N-acetylgalactosaminyltransferase-like 6 isoform X1

    4. XM_054350090.1 → XP_054206065.1  polypeptide N-acetylgalactosaminyltransferase-like 6 isoform X2

    5. XM_054350088.1 → XP_054206063.1  polypeptide N-acetylgalactosaminyltransferase-like 6 isoform X2

    6. XM_054350089.1 → XP_054206064.1  polypeptide N-acetylgalactosaminyltransferase-like 6 isoform X2

    7. XM_054350091.1 → XP_054206066.1  polypeptide N-acetylgalactosaminyltransferase-like 6 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q49A17.2 GenPept UniProtKB/Swiss-Prot:Q49A17

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