• Gene id: 338707

Gene Summary

• Gene Symbol: B4GALNT4   Gene   UCSC   Ensembl
• Gene name: beta-1,4-N-acetyl-galactosaminyltransferase 4
• Alternate names: N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 1, N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N- acetylgalactosaminyltransferase, NGalNAc-T1, beta-1,4-N-acetyl-galactosaminyl transferase 4, beta-1,4-N-acetylgalactosaminylt,
• Gene location: 11p15.5 (369498: 382116)     Exons: 21     NC_000011.10

Protein Summary

• Protein general information: Q76KP1  
  • Name: N acetyl beta glucosaminyl glycoprotein 4 beta N acetylgalactosaminyltransferase 1 (NGalNAc T1) (EC 2.4.1.244) (Beta 1,4 N acetylgalactosaminyltransferase IV) (Beta4GalNAc T4) (Beta4GalNAcT4)
  • Length: 1039  
  • Mass: 116513
  • Tissue specificity: Highly expressed in ovary, adult and fetal brain. Also expressed in fetal kidney and lung. {ECO
• Sequence:

  MPRLPVKKIRKQMKLLLLLLLLSCAAWLTYVHLGLVRQGRALRQRLGYGRDGEKLTSETDGRGVHAAPSTQRAED
  SSESREEEQAPEGRDLDMLFPGGAGRLPLNFTHQTPPWREEYKGQVNLHVFEDWCGGAVGHLRRNLHFPLFPHTR
  TTVKKLAVSPKWKNYGLRIFGFIHPARDGDVQFSVASDDNSEFWLSLDESPAAAQLVAFVGKTGSEWTAPGEFTK
  FSSQVSKPRRLMASRRYYFELLHKQDDRGSDHVEVGWRAFLPGLKFEVISSAHISLYTDESALKMDHVAHVPQSP
  ASHVGGRPPQEETSADMLRPDPRDTFFLTPRMESSSLENVLEPCAYAPTYVVKDFPIARYQGLQFVYLSFVYPND
  YTRLTHMETDNKCFYRESPLYLERFGFYKYMKMDKEEGDEDEEDEVQRRAFLFLNPDDFLDDEDEGELLDSLEPT
  EAAPPRSGPQSPAPAAPAQPGATLAPPTPPRPRDGGTPRHSRALSWAARAARPLPLFLGRAPPPRPAVEQPPPKV
  YVTRVRPGQRASPRAPAPRAPWPPFPGVFLHPRPLPRVQLRAPPRPPRPHGRRTGGPQATQPRPPARAQATQGGR
  EGQARTLGPAAPTVDSNLSSEARPVTSFLSLSQVSGPQLPGEGEEEEEGEDDGAPGDEAASEDSEEAAGPALGRW
  REDAIDWQRTFSVGAVDFELLRSDWNDLRCNVSGNLQLPEAEAVDVTAQYMERLNARHGGRFALLRIVNVEKRRD
  SARGSRFLLELELQERGGGRLRLSEYVFLRLPGARVGDADGESPEPAPAASVRPDGRPELCRPLRLAWRQDVMVH
  FIVPVKNQARWVAQFLADMAALHARTGDSRFSVVLVDFESEDMDVERALRAARLPRYQYLRRTGNFERSAGLQAG
  VDAVEDASSIVFLCDLHIHFPPNILDGIRKHCVEGRLAFAPVVMRLSCGSSPRDPHGYWEVNGFGLFGIYKSDFD
  RVGGMNTEEFRDQWGGEDWELLDRVLQAGLEVERLRLRNFYHHYHSKRGMWSVRSRKGSRTGAS

• Structural information:
  • Protein Domains: (108..27-)
    (/note="PA14-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01164"-)
  • Interpro: IPR008428  IPR029044  IPR037524  IPR011658  
  • Prosite: PS51820
  • STRING: ENSP00000328277
• Other Databases: GeneCards:  B4GALNT4  Malacards:  B4GALNT4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008376	acetylgalactosaminyltransferase activity	IDA	molecular function
GO:0008376	acetylgalactosaminyltransferase activity	IEA	molecular function
GO:0032580	Golgi cisterna membrane	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0033842	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	IEA	molecular function
GO:0032580	Golgi cisterna membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00513	Various types of N-glycan biosynthesis

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq