• Gene id: 57348

Gene Summary

• Gene Symbol: TTYH1   Gene   UCSC   Ensembl
• Gene name: tweety family member 1
• Alternate names: protein tweety homolog 1, hTTY1, tweety homolog 1,
• Gene location: 19q13.42 (54415463: 54436903)     Exons: 14     NC_000019.10
• Gene summary(Entrez): This gene encodes a member of the tweety family of proteins. Members of this family function as chloride anion channels. The encoded protein functions as a calcium(2+)-independent, volume-sensitive large conductance chloride(-) channel. Three transcript v
• OMIM: 606644

Protein Summary

• Protein general information: Q9H313  
  • Name: Protein tweety homolog 1 (hTTY1)
  • Length: 450  
  • Mass: 49051
  • Tissue specificity: Expressed in brain, eye, ovary and testis, and at lower levels in muscle, placenta, liver and lung. {ECO
• Sequence:

  MGAPPGYRPSAWVHLLHQLPRADFQLRPVPSVFAPQEQEYQQALLLVAALAGLGLGLSLIFIAVYLIRFCCCRPP
  EPPGSKIPSPGGGCVTWSCIVALLAGCTGIGIGFYGNSETSDGVSQLSSALLHANHTLSTIDHLVLETVERLGEA
  VRTELTTLEEVLEPRTELVAAARGARRQAEAAAQQLQGLAFWQGVPLSPLQVAENVSFVEEYRWLAYVLLLLLEL
  LVCLFTLLGLAKQSKWLVIVMTVMSLLVLVLSWGSMGLEAATAVGLSDFCSNPDPYVLNLTQEETGLSSDILSYY
  LLCNRAVSNPFQQRLTLSQRALANIHSQLLGLEREAVPQFPSAQKPLLSLEETLNVTEGNFHQLVALLHCRSLHK
  DYGAALRGLCEDALEGLLFLLLFSLLSAGALATALCSLPRAWALFPPSDDYDDTDDDDPFNPQESKRFVQWQSSI

• Structural information:
  • Interpro: IPR006990  
  • CDD: cd07912
  • STRING: ENSP00000365714
• Other Databases: GeneCards:  TTYH1  Malacards:  TTYH1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005229	intracellular calcium activated chloride channel activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0030868	smooth endoplasmic reticulum membrane	IBA	cellular component
GO:0072320	volume-sensitive chloride channel activity	IBA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006821	chloride transport	IEA	biological process
GO:0034707	chloride channel complex	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005254	chloride channel activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0072320	volume-sensitive chloride channel activity	IDA	molecular function
GO:0006821	chloride transport	IDA	biological process
GO:0005254	chloride channel activity	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0046847	filopodium assembly	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0098609	cell-cell adhesion	IEA	biological process
GO:0032433	filopodium tip	IEA	cellular component
GO:0031589	cell-substrate adhesion	IEA	biological process
GO:0031527	filopodium membrane	IEA	cellular component
GO:0030868	smooth endoplasmic reticulum membrane	IEA	cellular component
GO:0005509	calcium ion binding	IEA	molecular function
GO:0000278	mitotic cell cycle	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0034755	iron ion transmembrane transport	IEA	biological process
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:0006826	iron ion transport	NAS	biological process
GO:0016021	integral component of membrane	TAS	cellular component
GO:0005381	iron ion transmembrane transporter activity	NAS	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

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
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R