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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
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Genomic context

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)

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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_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