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    GALNT7 polypeptide N-acetylgalactosaminyltransferase 7 [ Homo sapiens (human) ]

    Gene ID: 51809, updated on 3-Apr-2024

    Summary

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    Official Symbol
    GALNT7provided by HGNC
    Official Full Name
    polypeptide N-acetylgalactosaminyltransferase 7provided by HGNC
    Primary source
    HGNC:HGNC:4129
    See related
    Ensembl:ENSG00000109586 MIM:605005; AllianceGenome:HGNC:4129
    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
    GalNAcT7; GALNAC-T7
    Summary
    This gene encodes GalNAc transferase 7, a member of the GalNAc-transferase family. The enzyme encoded by this gene controls the initiation step of mucin-type O-linked protein glycosylation and transfer of N-acetylgalactosamine to serine and threonine amino acid residues. This enzyme is a type II transmembrane protein and shares common sequence motifs with other family members. Unlike other family members, this enzyme shows exclusive specificity for partially GalNAc-glycosylated acceptor substrates and shows no activity with non-glycosylated peptides. This protein may function as a follow-up enzyme in the initiation step of O-glycosylation. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in stomach (RPKM 19.2), colon (RPKM 18.8) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    4q34.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (173168811..173323967)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (176508240..176663390)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (174089962..174245118)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene polypeptide N-acetylgalactosaminyltransferase like 6 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_chr4:174147822-174148337 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:174147305-174147821 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 ReSE screen-validated silencer GRCh37_chr4:174196465-174196667 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:174227831-174228613 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:174228614-174229395 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15808 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15809 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:174255709-174256444 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22157 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22158 Neighboring gene microRNA 548t Neighboring gene SAP30 divergent transcript Neighboring gene high mobility group box 2

    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. Upregulation of GALNT7 in prostate cancer modifies O-glycosylation and promotes tumour growth. Scott E, et al. Oncogene, 2023 Mar. PMID 36725887, Free PMC Article
    2. Structural basis of carbohydrate transfer activity of UDP-GalNAc: Polypeptide N-acetylgalactosaminyltransferase 7. Yu C, et al. Biochem Biophys Res Commun, 2019 Mar 5. PMID 30685086
    3. A novel human UDP-N-acetyl-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase, GalNAc-T7, with specificity for partial GalNAc-glycosylated acceptor substrates. Bennett EP, et al. FEBS Lett, 1999 Oct 29. PMID 10544240
    4. MiR-30c facilitates natural killer cell cytotoxicity to lung cancer through targeting GALNT7. Gao F, et al. Genes Genomics, 2023 Feb. PMID 36040682
    5. miR-214 inhibits invasion and migration via downregulating GALNT7 in esophageal squamous cell cancer. Lu Q, et al. Tumour Biol, 2016 Nov. PMID 27619677

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The expression of O-linked glycosyltransferase GALNT7 in breast cancer is dependent on estrogen-, progesterone-, and HER2-receptor status, with prognostic implications.
      Title: The expression of O-linked glycosyltransferase GALNT7 in breast cancer is dependent on estrogen-, progesterone-, and HER2-receptor status, with prognostic implications.
    2. SPDEF enhances cancer stem cell-like properties and tumorigenesis through directly promoting GALNT7 transcription in luminal breast cancer.
      Title: SPDEF enhances cancer stem cell-like properties and tumorigenesis through directly promoting GALNT7 transcription in luminal breast cancer.
    3. Upregulation of GALNT7 in prostate cancer modifies O-glycosylation and promotes tumour growth.
      Title: Upregulation of GALNT7 in prostate cancer modifies O-glycosylation and promotes tumour growth.
    4. MiR-30c facilitates natural killer cell cytotoxicity to lung cancer through targeting GALNT7.
      Title: MiR-30c facilitates natural killer cell cytotoxicity to lung cancer through targeting GALNT7.
    5. Long non-coding RNA TP73-AS1 contributes to glioma tumorigenesis by sponging the miR-103a/GALNT7 pathway.
      Title: Long non-coding RNA TP73-AS1 contributes to glioma tumorigenesis by sponging the miR-103a/GALNT7 pathway.
    6. Results indicated that SNHG7 facilitated the proliferation and metastasis as a competing endogenous RNA to regulate GALNT7 expression by sponging miR-34a in CRC cell lines.
      Title: Long non-coding RNA-SNHG7 acts as a target of miR-34a to increase GALNT7 level and regulate PI3K/Akt/mTOR pathway in colorectal cancer progression.
    7. crystallographic analysis of GalNAc-T7, a GalNAc-T capable of glycosylating consecutive sites, and of its complex with the donor substrate UDP-GalNAc
      Title: Structural basis of carbohydrate transfer activity of UDP-GalNAc: Polypeptide N-acetylgalactosaminyltransferase 7.
    8. miR-494 and GALNT7 play oncogenic roles in nasopharyngeal carcinoma.
      Title: GALNT7, a target of miR-494, participates in the oncogenesis of nasopharyngeal carcinoma.
    9. High expression of GALNT7 promotes migration and invasion and lymph node metastasis in esophageal squamous cell carcinoma.
      Title: miR-214 inhibits invasion and migration via downregulating GALNT7 in esophageal squamous cell cancer.
    10. GALNT7 and CDK16 were confirmed to be the direct targets of miR-494. These results suggested that miR-494 play an inhibitory role in the tumorigenesis of NPC
      Title: Functional elucidation of miR-494 in the tumorigenesis of nasopharyngeal carcinoma.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    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

    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 TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in O-glycan processing TAS
    Traceable Author Statement
    more info
    		  
    involved_in carbohydrate metabolic 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
    		  
    located_in extracellular exosome HDA PubMed 
    located_in membrane HDA PubMed 

    General protein information

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    Preferred Names
    N-acetylgalactosaminyltransferase 7
    Names
    UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 7
    UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)
    polypeptide GalNAc transferase 7
    pp-GaNTase 7
    protein-UDP acetylgalactosaminyltransferase 7
    NP_001362528.1
    NP_001362529.1
    NP_001362530.1
    NP_059119.2
    XP_011530327.1
    XP_016863781.1
    XP_047271734.1
    XP_047271735.1
    XP_047271736.1
    XP_047271737.1
    XP_047271738.1
    XP_054206155.1
    XP_054206156.1
    XP_054206157.1
    XP_054206158.1
    XP_054206159.1
    XP_054206160.1

    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_001375599.1 → NP_001362528.1  N-acetylgalactosaminyltransferase 7 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC097534, AC105285
      Consensus CDS
      CCDS93669.1
      UniProtKB/TrEMBL
      H0YAH3
      Related
      ENSP00000427095.2, ENST00000505308.6
      Conserved Domains (2) summary
      cd02510
      Location:210 → 518
      pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
      pfam00652
      Location:534 → 649
      Ricin_B_lectin; Ricin-type beta-trefoil lectin domain

    2. NM_001375600.1 → NP_001362529.1  N-acetylgalactosaminyltransferase 7 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC097534, AC105285
      Conserved Domains (2) summary
      cd02510
      Location:210 → 518
      pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
      pfam00652
      Location:533 → 616
      Ricin_B_lectin; Ricin-type beta-trefoil lectin domain

    3. NM_001375601.1 → NP_001362530.1  N-acetylgalactosaminyltransferase 7 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC097534, AC105285
      Conserved Domains (2) summary
      pfam00652
      Location:407 → 522
      Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
      cl11394
      Location:210 → 391
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

    4. NM_017423.3 → NP_059119.2  N-acetylgalactosaminyltransferase 7 isoform 1

      See identical proteins and their annotated locations for NP_059119.2

      Status: REVIEWED

      Source sequence(s)
      AJ002744, BC035303, BC046129, BC047468
      Consensus CDS
      CCDS3815.1
      UniProtKB/Swiss-Prot
      B3KQU3, Q7Z5W7, Q86SF2, Q9UJ28
      Related
      ENSP00000265000.4, ENST00000265000.9
      Conserved Domains (2) summary
      cd02510
      Location:210 → 518
      pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
      pfam00652
      Location:534 → 649
      Ricin_B_lectin; Ricin-type beta-trefoil lectin domain

    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
      173168811..173323967
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047415780.1 → XP_047271736.1  N-acetylgalactosaminyltransferase 7 isoform X1

    2. XM_047415779.1 → XP_047271735.1  N-acetylgalactosaminyltransferase 7 isoform X2

    3. XM_047415778.1 → XP_047271734.1  N-acetylgalactosaminyltransferase 7 isoform X1

    4. XM_011532025.4 → XP_011530327.1  N-acetylgalactosaminyltransferase 7 isoform X3

      Conserved Domains (4) summary
      cd02510
      Location:169 → 477
      pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
      COG0463
      Location:169 → 290
      WcaA; Glycosyltransferase involved in cell wall bisynthesis [Cell wall/membrane/envelope biogenesis]
      cd00161
      Location:494 → 610
      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:493 → 608
      Ricin_B_lectin; Ricin-type beta-trefoil lectin domain

    5. XM_047415782.1 → XP_047271738.1  N-acetylgalactosaminyltransferase 7 isoform X4

    6. XM_047415781.1 → XP_047271737.1  N-acetylgalactosaminyltransferase 7 isoform X3

    7. XM_017008292.3 → XP_016863781.1  N-acetylgalactosaminyltransferase 7 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      176508240..176663390
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350183.1 → XP_054206158.1  N-acetylgalactosaminyltransferase 7 isoform X1

    2. XM_054350184.1 → XP_054206159.1  N-acetylgalactosaminyltransferase 7 isoform X3

    3. XM_054350181.1 → XP_054206156.1  N-acetylgalactosaminyltransferase 7 isoform X1

    4. XM_054350182.1 → XP_054206157.1  N-acetylgalactosaminyltransferase 7 isoform X1

    5. XM_054350185.1 → XP_054206160.1  N-acetylgalactosaminyltransferase 7 isoform X4

    6. XM_054350180.1 → XP_054206155.1  N-acetylgalactosaminyltransferase 7 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86SF2.1 GenPept UniProtKB/Swiss-Prot:Q86SF2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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