U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    GALNT13 polypeptide N-acetylgalactosaminyltransferase 13 [ Homo sapiens (human) ]

    Gene ID: 114805, updated on 3-Apr-2024

    Summary

    Official Symbol
    GALNT13provided by HGNC
    Official Full Name
    polypeptide N-acetylgalactosaminyltransferase 13provided by HGNC
    Primary source
    HGNC:HGNC:23242
    See related
    Ensembl:ENSG00000144278 MIM:608369; AllianceGenome:HGNC:23242
    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
    LINC01850; GalNAc-T13
    Summary
    The GALNT13 protein is a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAcT; EC 2.4.1.41) family, which initiate O-linked glycosylation of mucins (see MUC3A, MIM 158371) by the initial transfer of N-acetylgalactosamine (GalNAc) with an alpha-linkage to a serine or threonine residue.[supplied by OMIM, Apr 2004]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s).
    Expression
    Biased expression in brain (RPKM 11.3), adrenal (RPKM 2.3) and 5 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GALNT13 in Genome Data Viewer
    Location:
    2q23.3; 2q23.3-q24.1
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (153068293..154456574)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (153520817..154909642)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (154728435..155310689)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373691 Neighboring gene ubiquilin 4 pseudogene 2 Neighboring gene NANOG hESC enhancer GRCh37_chr2:153842337-153842838 Neighboring gene NANOG hESC enhancer GRCh37_chr2:153916082-153916645 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:153925160-153926359 Neighboring gene ATP synthase peripheral stalk-membrane subunit b pseudogene 4 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:154260309-154260966 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:154259650-154260308 Neighboring gene ribosomal protein L23a pseudogene 29 Neighboring gene small nucleolar RNA SNORD56 Neighboring gene NANOG hESC enhancer GRCh37_chr2:154316044-154316575 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:154333443-154333946 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:154333947-154334450 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:154334451-154334954 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12014 Neighboring gene NANOG hESC enhancer GRCh37_chr2:154352121-154352622 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:154355012-154355532 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:154355799-154356300 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:154354490-154355011 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:154365323-154365825 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:154391191-154391794 Neighboring gene tubulin alpha pseudogene 13 Neighboring gene NANOG hESC enhancer GRCh37_chr2:154400187-154400737 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:154449049-154450248 Neighboring gene reprimo, TP53 dependent G2 arrest mediator homolog Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:154575691-154576266 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:154576267-154576842 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:154621524-154622079 Neighboring gene DnaJ heat shock protein family (Hsp40) member A1 pseudogene 2 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:154747006-154747567 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:154769701-154770201 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:155097618-155098817 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:155257300-155257844 Neighboring gene PHB1 pseudogene 4 Neighboring gene HNF1 motif-containing MPRA enhancer 37 Neighboring gene GALNT13 antisense RNA 1 Neighboring gene uncharacterized LOC105373694 Neighboring gene uncharacterized LOC105373693 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:155439873-155440600 Neighboring gene RNA, 5S ribosomal pseudogene 107

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children.
    EBI GWAS Catalog
    Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study.
    EBI GWAS Catalog
    Genome-wide association study identifies loci affecting blood copper, selenium and zinc.
    EBI GWAS Catalog
    Genome-wide association study of liver enzymes in korean children.
    EBI GWAS Catalog
    GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ16031, FLJ41157, KIAA1918, MGC119459, MGC119461, H_NH0187G20.1, WUGSC:H_NH0187G20.1

    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 protein O-linked glycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein O-linked glycosylation via serine IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    polypeptide N-acetylgalactosaminyltransferase 13
    Names
    GalNAc transferase 13
    UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 13
    UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)
    long intergenic non-protein coding RNA 1850
    polypeptide GalNAc transferase 13
    polypeptide N-acetylgalactosaminyltransferase 13 variant delta39bpEx9
    polypeptide N-acetylgalactosaminyltransferase 13 variant deltaEx2-7
    polypeptide N-acetylgalactosaminyltransferase 13 variant deltaEx6 delta39bpEx9
    polypeptide N-acetylgalactosaminyltransferase 13 variant deltaEx6 deltaEx8 delta39bpEx9
    polypeptide N-acetylgalactosaminyltransferase 13 variant deltaEx8
    polypeptide N-acetylgalactosaminyltransferase 13 variant deltaEx9
    pp-GaNTase 13
    protein-UDP acetylgalactosaminyltransferase 13
    NP_001288556.1
    NP_001363321.1
    NP_001363323.1
    NP_001363327.1
    NP_001363329.1
    NP_001363330.1
    NP_001363331.1
    NP_001363332.1
    NP_001363333.1
    NP_001363334.1
    NP_001409808.1
    NP_001409809.1
    NP_001409810.1
    NP_001409811.1
    NP_001409812.1
    NP_443149.2
    XP_011508840.1
    XP_047299072.1
    XP_047299077.1
    XP_054196328.1
    XP_054196330.1
    XP_054196331.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001301627.2NP_001288556.1  polypeptide N-acetylgalactosaminyltransferase 13 isoform 2

      See identical proteins and their annotated locations for NP_001288556.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and contains an alternate exon in the 3' coding region resulting in a frameshift compared to variant 1. The encoded isoform (2) is longer, and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC008166, AC009227, AC009297, AC092584, AC133107
      Consensus CDS
      CCDS77472.1
      UniProtKB/TrEMBL
      B3KY85
      Related
      ENSP00000387239.1, ENST00000409237.5
      Conserved Domains (2) summary
      cd02510
      Location:118418
      pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
      pfam00652
      Location:431538
      Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
    2. NM_001376392.1NP_001363321.1  polypeptide N-acetylgalactosaminyltransferase 13 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3), as well as variants 1 and 4-8, encodes isoform 1.
      Source sequence(s)
      AC008166, AC009227, AC009297, AC092584, AC133107
      Consensus CDS
      CCDS2199.1
      UniProtKB/Swiss-Prot
      Q08ER7, Q68VI8, Q6ZWG1, Q8IUC8, Q96PX0, Q9UIE5
      UniProtKB/TrEMBL
      B3KY85
      Conserved Domains (2) summary
      cd02510
      Location:118418
      pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
      pfam00652
      Location:431547
      Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
    3. NM_001376394.1NP_001363323.1  polypeptide N-acetylgalactosaminyltransferase 13 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4), as well as variants 1, 3, and 5-8, encodes isoform 1.
      Source sequence(s)
      AC008166, AC009227, AC009297, AC092584, AC133107
      Consensus CDS
      CCDS2199.1
      UniProtKB/Swiss-Prot
      Q08ER7, Q68VI8, Q6ZWG1, Q8IUC8, Q96PX0, Q9UIE5
      UniProtKB/TrEMBL
      B3KY85
      Conserved Domains (2) summary
      cd02510
      Location:118418
      pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
      pfam00652
      Location:431547
      Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
    4. NM_001376398.1NP_001363327.1  polypeptide N-acetylgalactosaminyltransferase 13 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5), as well as variants 1, 3, 4, and 6-8, encodes isoform 1.
      Source sequence(s)
      AC008166, AC009227, AC009297, AC092584, AC133107
      Consensus CDS
      CCDS2199.1
      UniProtKB/Swiss-Prot
      Q08ER7, Q68VI8, Q6ZWG1, Q8IUC8, Q96PX0, Q9UIE5
      UniProtKB/TrEMBL
      B3KY85
      Conserved Domains (2) summary
      cd02510
      Location:118418
      pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
      pfam00652
      Location:431547
      Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
    5. NM_001376400.1NP_001363329.1  polypeptide N-acetylgalactosaminyltransferase 13 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7), as well as variants 1, 3-6, and 8, encodes isoform 1.
      Source sequence(s)
      AC008166, AC009227, AC009297, AC092584, AC133107
      Consensus CDS
      CCDS2199.1
      UniProtKB/Swiss-Prot
      Q08ER7, Q68VI8, Q6ZWG1, Q8IUC8, Q96PX0, Q9UIE5
      UniProtKB/TrEMBL
      B3KY85
      Conserved Domains (2) summary
      cd02510
      Location:118418
      pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
      pfam00652
      Location:431547
      Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
    6. NM_001376401.1NP_001363330.1  polypeptide N-acetylgalactosaminyltransferase 13 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6), as well as variants 1, 3-5, 7, and 8, encodes isoform 1.
      Source sequence(s)
      AC008166, AC009227, AC009297, AC092584, AC133107
      Consensus CDS
      CCDS2199.1
      UniProtKB/Swiss-Prot
      Q08ER7, Q68VI8, Q6ZWG1, Q8IUC8, Q96PX0, Q9UIE5
      UniProtKB/TrEMBL
      B3KY85
      Conserved Domains (2) summary
      cd02510
      Location:118418
      pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
      pfam00652
      Location:431547
      Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
    7. NM_001376402.1NP_001363331.1  polypeptide N-acetylgalactosaminyltransferase 13 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8), as well as variants 1 and 3-7, encodes isoform 1.
      Source sequence(s)
      AC008166, AC009227, AC009297, AC092584, AC133107
      Consensus CDS
      CCDS2199.1
      UniProtKB/Swiss-Prot
      Q08ER7, Q68VI8, Q6ZWG1, Q8IUC8, Q96PX0, Q9UIE5
      UniProtKB/TrEMBL
      B3KY85
      Conserved Domains (2) summary
      cd02510
      Location:118418
      pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
      pfam00652
      Location:431547
      Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
    8. NM_001376403.1NP_001363332.1  polypeptide N-acetylgalactosaminyltransferase 13 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9), as well as variant 10, encodes the longest isoform (3).
      Source sequence(s)
      AC008166, AC009227, AC009297, AC092584, AC133107
      UniProtKB/TrEMBL
      B3KY85
      Conserved Domains (2) summary
      cd02510
      Location:118418
      pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
      pfam00652
      Location:431548
      Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
    9. NM_001376404.1NP_001363333.1  polypeptide N-acetylgalactosaminyltransferase 13 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (10), as well as variant 9, encodes the longest isoform (3).
      Source sequence(s)
      AC008166, AC009227, AC009297, AC092584, AC133107
      UniProtKB/TrEMBL
      B3KY85
      Conserved Domains (2) summary
      cd02510
      Location:118418
      pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
      pfam00652
      Location:431548
      Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
    10. NM_001376405.1NP_001363334.1  polypeptide N-acetylgalactosaminyltransferase 13 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC008166, AC009227, AC009297, AC092584, AC133107
      UniProtKB/TrEMBL
      A0A1L4BJA8, A0A1L4BJA9
      Conserved Domains (2) summary
      pfam00652
      Location:346461
      Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
      cl11394
      Location:118286
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
    11. NM_001422879.1NP_001409808.1  polypeptide N-acetylgalactosaminyltransferase 13 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC008166, AC009227, AC009297, AC012501, AC092584, AC133107
    12. NM_001422880.1NP_001409809.1  polypeptide N-acetylgalactosaminyltransferase 13 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC008166, AC009227, AC009297, AC012501, AC092584, AC133107
      UniProtKB/Swiss-Prot
      Q08ER7, Q68VI8, Q6ZWG1, Q8IUC8, Q96PX0, Q9UIE5
    13. NM_001422881.1NP_001409810.1  polypeptide N-acetylgalactosaminyltransferase 13 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC008166, AC009227, AC009297, AC012501, AC092584, AC133107
      UniProtKB/Swiss-Prot
      Q08ER7, Q68VI8, Q6ZWG1, Q8IUC8, Q96PX0, Q9UIE5
    14. NM_001422882.1NP_001409811.1  polypeptide N-acetylgalactosaminyltransferase 13 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC008166, AC009227, AC009297, AC011901, AC079150, AC092584, AC133107
      UniProtKB/Swiss-Prot
      Q08ER7, Q68VI8, Q6ZWG1, Q8IUC8, Q96PX0, Q9UIE5
    15. NM_001422883.1NP_001409812.1  polypeptide N-acetylgalactosaminyltransferase 13 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC009227, AC009297, AC011901, AC079150, AC092584, AC133107
    16. NM_052917.4NP_443149.2  polypeptide N-acetylgalactosaminyltransferase 13 isoform 1

      See identical proteins and their annotated locations for NP_443149.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1), as well as variants 3-8, encodes isoform 1.
      Source sequence(s)
      AC008166, AC009227, AC009297, AC092584, AC133107
      Consensus CDS
      CCDS2199.1
      UniProtKB/Swiss-Prot
      Q08ER7, Q68VI8, Q6ZWG1, Q8IUC8, Q96PX0, Q9UIE5
      UniProtKB/TrEMBL
      B3KY85
      Related
      ENSP00000376570.3, ENST00000392825.8
      Conserved Domains (2) summary
      cd02510
      Location:118418
      pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
      pfam00652
      Location:431547
      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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      153068293..154456574
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047443116.1XP_047299072.1  polypeptide N-acetylgalactosaminyltransferase 13 isoform X1

    2. XM_011510538.3XP_011508840.1  polypeptide N-acetylgalactosaminyltransferase 13 isoform X3

      Conserved Domains (3) summary
      cd02510
      Location:1237
      pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
      cd00161
      Location:250369
      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:250367
      Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
    3. XM_047443121.1XP_047299077.1  polypeptide N-acetylgalactosaminyltransferase 13 isoform X3

    RNA

    1. XR_007069045.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      153520817..154909642
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340353.1XP_054196328.1  polypeptide N-acetylgalactosaminyltransferase 13 isoform X1

    2. XM_054340355.1XP_054196330.1  polypeptide N-acetylgalactosaminyltransferase 13 isoform X3

    3. XM_054340356.1XP_054196331.1  polypeptide N-acetylgalactosaminyltransferase 13 isoform X3

    RNA

    1. XR_008486258.1 RNA Sequence