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

Gene ID: 114805, updated on 13-Mar-2020

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
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
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]
Expression
Biased expression in brain (RPKM 11.3), adrenal (RPKM 2.3) and 5 other tissues See more
Orthologs

Genomic context

See GALNT13 in Genome Data Viewer
Location:
2q23.3-q24.1
Exon count:
18
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (153871922..154454177)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (154728426..155310489)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene reprimo, TP53 dependent G2 arrest mediator homolog Neighboring gene DnaJ heat shock protein family (Hsp40) member A1 pseudogene 2 Neighboring gene prohibitin pseudogene 4 Neighboring gene uncharacterized LOC100144595 Neighboring gene HNF1 motif-containing MPRA enhancer 37 Neighboring gene uncharacterized LOC105373692 Neighboring gene uncharacterized LOC105373694 Neighboring gene uncharacterized LOC105373693

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

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
carbohydrate binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
polypeptide N-acetylgalactosaminyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
O-glycan processing TAS
Traceable Author Statement
more info
 
protein O-linked glycosylation via serine IDA
Inferred from Direct Assay
more info
PubMed 
protein O-linked glycosylation via threonine IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Golgi membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
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)
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_443149.2
XP_011508840.1
XP_016858748.1
XP_016858751.1
XP_024308411.1

NCBI Reference Sequences (RefSeq)

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/Swiss-Prot
    Q8IUC8
    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
  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
  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
  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
  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
  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
  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
  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
  10. NM_001376405.1NP_001363334.1  polypeptide N-acetylgalactosaminyltransferase 13 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC008166, AC009227, AC009297, AC092584, AC133107
  11. 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
    Q8IUC8
    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: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    153871922..154454177
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452643.1XP_024308411.1  polypeptide N-acetylgalactosaminyltransferase 13 isoform X6

    Conserved Domains (2) summary
    cd02510
    Location:1237
    pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
    pfam00652
    Location:250366
    Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
  2. XM_017003259.1XP_016858748.1  polypeptide N-acetylgalactosaminyltransferase 13 isoform X1

    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
  3. XM_011510538.2XP_011508840.1  polypeptide N-acetylgalactosaminyltransferase 13 isoform X4

    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
  4. XM_017003262.1XP_016858751.1  polypeptide N-acetylgalactosaminyltransferase 13 isoform X5

RNA

  1. XR_001738599.2 RNA Sequence

  2. XR_001738598.2 RNA Sequence

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