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

Gene ID: 442117, updated on 5-Mar-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 integral component of membrane. Predicted to be active in Golgi apparatus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (171813404..173041559)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (175165678..176380965)
105.20220307 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: 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. 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)

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

  • 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_2023_10

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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