• Gene id: 258

Gene Summary

• Gene Symbol: AMBN   Gene   UCSC   Ensembl
• Aliases: AI1F
• Gene name: ameloblastin
• Alternate names: ameloblastin, enamel matrix protein,
• Gene location: 4q13.3 (70592255: 70607287)     Exons: 13     NC_000004.12
• Gene summary(Entrez): This gene encodes the nonamelogenin enamel matrix protein ameloblastin. The encoded protein may be important in enamel matrix formation and mineralization. This gene is located in the calcium-binding phosphoprotein gene cluster on chromosome 4. Mutations
• OMIM: 601259

Protein Summary

• Protein general information: Q9NP70  
  • Name: Ameloblastin
  • Length: 447  
  • Mass: 48283
  • Tissue specificity: Ameloblast-specific. Located at the Tomes processes of secretory ameloblasts and in the sheath space between rod-interrod enamel.
• Sequence:

  MSASKIPLFKMKDLILILCLLEMSFAVPFFPQQSGTPGMASLSLETMRQLGSLQRLNTLSQYSRYGFGKSFNSLW
  MHGLLPPHSSLPWMRPREHETQQYEYSLPVHPPPLPSQPSLKPQQPGLKPFLQSAAATTNQATALKEALQPPIHL
  GHLPLQEGELPLVQQQVAPSDKPPKPELPGVDFADPQGPSLPGMDFPDPQGPSLPGLDFADPQGSTIFQIARLIS
  HGPMPQNKQSPLYPGMLYVPFGANQLNAPARLGIMSSEEVAGGREDPMAYGAMFPGFGGMRPGFEGMPHNPAMGG
  DFTLEFDSPVAATKGPENEEGGAQGSPMPEANPDNLENPAFLTELEPAPHAGLLALPKDDIPGLPRSPSGKMKGL
  PSVTPAAADPLMTPELADVYRTYDADMTTSVDFQEEATMDTTMAPNSLQTSMPGNKAQEPEMMHDAWHFQEP

• Structural information:
  • Interpro: IPR007798  
  • STRING: ENSP00000313809
• Other Databases: GeneCards:  AMBN  Malacards:  AMBN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008083	growth factor activity	IBA	molecular function
GO:0007155	cell adhesion	IBA	biological process
GO:0030345	structural constituent of tooth enamel	IEA	molecular function
GO:0042475	odontogenesis of dentin-containing tooth	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0031214	biomineral tissue development	IEA	biological process
GO:0044267	cellular protein metabolic process	TAS	biological process
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0043687	post-translational protein modification	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008083	growth factor activity	ISS	molecular function
GO:0042127	regulation of cell population proliferation	ISS	biological process
GO:0007155	cell adhesion	ISS	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0007165	signal transduction	IEA	biological process

Diseases

Associated diseases	References
Amelogenesis imperfecta	KEGG:H00615
Amelogenesis imperfecta	KEGG:H00615
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)