2. Gene
  3. GALNT1 - polypeptide N-acetylgalactosaminyltransferase 1 Gene

GALNT1 - polypeptide N-acetylgalactosaminyltransferase 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as GALNAC-T1

Gene ID: 2589 | Gene type: protein coding

About GALNT1

Cytogenetic location: 18q12.2 Genomic coordinates (GRCh38): 18:35,580,922-35,711,834 (from NCBI)

This gene has 6 transcripts (splice variants), 220 orthologues and 19 paralogues. Ubiquitous expression in urinary bladder (RPKM 44.6), esophagus (RPKM 32.6) and 25 other tissues.

Summary

This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. Transcript variants derived from this gene that utilize alternative polyA signals have been described in the literature. [provided by RefSeq, Jul 2008]

GALNT1 Products(10)

mRNA Protein Name
NM_001384438.1 NP_001371367.1 polypeptide N-acetylgalactosaminyltransferase 1
NM_001384439.1 NP_001371368.1 polypeptide N-acetylgalactosaminyltransferase 1
NM_001384440.1 NP_001371369.1 polypeptide N-acetylgalactosaminyltransferase 1
NM_001384441.1 NP_001371370.1 polypeptide N-acetylgalactosaminyltransferase 1
NM_001384442.1 NP_001371371.1 polypeptide N-acetylgalactosaminyltransferase 1
NM_001384443.1 NP_001371372.1 polypeptide N-acetylgalactosaminyltransferase 1
NM_001384444.1 NP_001371373.1 polypeptide N-acetylgalactosaminyltransferase 1
NM_001384445.1 NP_001371374.1 polypeptide N-acetylgalactosaminyltransferase 1
NM_001384446.1 NP_001371375.1 polypeptide N-acetylgalactosaminyltransferase 1
NM_020474.4 NP_065207.2 polypeptide N-acetylgalactosaminyltransferase 1

GALNT1 Protein Structure

Glycos_transf_2

Glycos_transf_2: Glycosyl transferase family 2 (119 - 303)

Ricin_B_lectin

Ricin_B_lectin: Ricin-type beta-trefoil lectin domain (432 - 548)

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  • 559 a.a.
Protein Preferred Names Protein Names

polypeptide N-acetylgalactosaminyltransferase 1

GalNAc transferase 1

Related Diseases

Diseases Alias
Kleefstra Syndrome 1

9q Subtelomeric Deletion Syndrome

KLEFS1

Chromosome 9q34.3 Deletion Syndrome

9q- Syndrome

9q34 Deletion Syndrome

Kleefstra Syndrome Due To 9q34 Microdeletion

Kleefstra Syndrome

9q-Syndrome

9qstds

Kleefstra Syndrome Due To 9q Subtelomeric Deletion

Kleefstra Syndrome Due To Del(9)(Q34)

Kleefstra Syndrome Due To Monosomy 9q34

Chromosome 9q Subtelomeric Deletion Syndrome

Kleefstra Syndrome, Type 1
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (4)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS01300 B3GALNT1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown
HY-RS01315 B4GALNT1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown
HY-RS05247 GALNT1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown
HY-E70290 N-Acetylgalactosaminyltransferase 1 Agonist / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris GALNT1 VGNC VGNC:41084
Felis catus GALNT1 VGNC VGNC:62442
Rattus norvegicus GALNT1 RGD RGD:620358
Bos taurus GALNT1 VGNC VGNC:29222
Macaca mulatta GALNT1 VGNC VGNC:72871
Mus musculus GALNT1 MGD MGI:894693
Others GALNT1 NCBI