• Gene id: 7286

Gene Summary

• Gene Symbol: TUFT1   Gene   UCSC   Ensembl
• Gene name: tuftelin 1
• Alternate names: tuftelin,
• Gene location: 1q21.3 (151540293: 151583582)     Exons: 15     NC_000001.11
• Gene summary(Entrez): Tuftelin is an acidic protein that is thought to play a role in dental enamel mineralization and is implicated in caries susceptibility. It is also thought to be involved with adaptation to hypoxia, mesenchymal stem cell function, and neurotrophin nerve g
• OMIM: 613104

Protein Summary

• Protein general information: Q9NNX1  
  • Name: Tuftelin
  • Length: 390  
  • Mass: 44264
  • Tissue specificity: Present in the extracellular enamel and is mainly associated with the crystal component. {ECO
• Sequence:

  MNGTRNWCTLVDVHPEDQAAGSVDILRLTLQGELTGDELEHIAQKAGRKTYAMVSSHSAGHSLASELVESHDGHE
  EIIKVYLKGRSGDKMIHEKNINQLKSEVQYIQEARNCLQKLREDISSKLDRNLGDSLHRQEIQVVLEKPNGFSQS
  PTALYSSPPEVDTCINEDVESLRKTVQDLLAKLQEAKRQHQSDCVAFEVTLSRYQREAEQSNVALQREEDRVEQK
  EAEVGELQRRLLGMETEHQALLAKVREGEVALEELRSNNADCQAEREKAATLEKEVAGLREKIHHLDDMLKSQQR
  KVRQMIEQLQNSKAVIQSKDATIQELKEKIAYLEAENLEMHDRMEHLIEKQISHGNFSTQARAKTENPGSIRISK
  PPSPKPMPVIRVVET

• Structural information:
  • Interpro: IPR024846  
  • STRING: ENSP00000357842
• Other Databases: GeneCards:  TUFT1  Malacards:  TUFT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0035556	intracellular signal transduction	IBA	biological process
GO:0031214	biomineral tissue development	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0042476	odontogenesis	NAS	biological process
GO:0030282	bone mineralization	NAS	biological process
GO:0030345	structural constituent of tooth enamel	NAS	molecular function
GO:0005576	extracellular region	NAS	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0035556	intracellular signal transduction	IBA	biological process
GO:0031214	biomineral tissue development	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0042476	odontogenesis	NAS	biological process
GO:0030282	bone mineralization	NAS	biological process
GO:0030345	structural constituent of tooth enamel	NAS	molecular function
GO:0005576	extracellular region	NAS	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881