• Gene id: 2589

Gene Summary

• Gene Symbol: GALNT1   Gene   UCSC   Ensembl
• Aliases: GALNAC-T1
• Gene name: polypeptide N-acetylgalactosaminyltransferase 1
• Alternate names: polypeptide N-acetylgalactosaminyltransferase 1, GalNAc transferase 1, UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 1, UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1), polypeptide GalNAc transferase 1,
• Gene location: 18q12.2 (35654568: 35711833)     Exons: 11     NC_000018.10
• Gene summary(Entrez): 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 GalN
• OMIM: 602273

Protein Summary

• Protein general information: Q10472  
  • Name: Polypeptide N acetylgalactosaminyltransferase 1 (EC 2.4.1.41) (Polypeptide GalNAc transferase 1) (GalNAc T1) (pp GaNTase 1) (Protein UDP acetylgalactosaminyltransferase 1) (UDP GalNAc:polypeptide N acetylgalactosaminyltransferase 1) [Cleaved into: Polypep
  • Length: 559  
  • Mass: 64219
  • Tissue specificity: Widely expressed. Expressed in all tissues tested. {ECO
• Sequence:

  MRKFAYCKVVLATSLIWVLLDMFLLLYFSECNKCDEKKERGLPAGDVLEPVQKPHEGPGEMGKPVVIPKEDQEKM
  KEMFKINQFNLMASEMIALNRSLPDVRLEGCKTKVYPDNLPTTSVVIVFHNEAWSTLLRTVHSVINRSPRHMIEE
  IVLVDDASERDFLKRPLESYVKKLKVPVHVIRMEQRSGLIRARLKGAAVSKGQVITFLDAHCECTVGWLEPLLAR
  IKHDRRTVVCPIIDVISDDTFEYMAGSDMTYGGFNWKLNFRWYPVPQREMDRRKGDRTLPVRTPTMAGGLFSIDR
  DYFQEIGTYDAGMDIWGGENLEISFRIWQCGGTLEIVTCSHVGHVFRKATPYTFPGGTGQIINKNNRRLAEVWMD
  EFKNFFYIISPGVTKVDYGDISSRVGLRHKLQCKPFSWYLENIYPDSQIPRHYFSLGEIRNVETNQCLDNMARKE
  NEKVGIFNCHGMGGNQVFSYTANKEIRTDDLCLDVSKLNGPVTMLKCHHLKGNQLWEYDPVKLTLQHVNSNQCLD
  KATEEDSQVPSIRDCNGSRSQQWLLRNVTLPEIF

• Structural information:
  • Protein Domains: (429..55-)
    lectin (/note="Ricin-B-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00174"-)
  • Interpro: IPR001173  IPR029044  IPR035992  IPR000772  
  • Prosite: PS50231
  • CDD: cd00161
  • STRING: ENSP00000269195
• Other Databases: GeneCards:  GALNT1  Malacards:  GALNT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006493	protein O-linked glycosylation	ISS	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0030246	carbohydrate binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0004653	polypeptide N-acetylgalactosaminyltransferase activity	TAS	molecular function
GO:0006493	protein O-linked glycosylation	TAS	biological process
GO:0004653	polypeptide N-acetylgalactosaminyltransferase activity	IEA	molecular function
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0016266	O-glycan processing	TAS	biological process
GO:0004653	polypeptide N-acetylgalactosaminyltransferase activity	IEA	molecular function
GO:0004653	polypeptide N-acetylgalactosaminyltransferase activity	IEA	molecular function
GO:0006493	protein O-linked glycosylation	IEA	biological process
GO:0004653	polypeptide N-acetylgalactosaminyltransferase activity	IDA	molecular function
GO:0030145	manganese ion binding	IDA	molecular function
GO:0018242	protein O-linked glycosylation via serine	IDA	biological process
GO:0018243	protein O-linked glycosylation via threonine	IDA	biological process
GO:0005794	Golgi apparatus	IDA	colocalizes with
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0032580	Golgi cisterna membrane	IEA	cellular component
GO:0006486	protein glycosylation	IEA	biological process
GO:0004653	polypeptide N-acetylgalactosaminyltransferase activity	IDA	molecular function
GO:0006493	protein O-linked glycosylation	IDA	biological process
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00514	Other types of O-glycan biosynthesis
hsa00512	Mucin type O-glycan biosynthesis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray