TTYH1 (tweety family member 1)

Gene

• Entrez ID: 57348
• Gene name: Tweety family member 1
• Gene symbol: TTYH1
• Synonyms (NCBI Gene): -
• Chromosome: 19
• Chromosome location: 19q13.42
• Summary: 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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000278	Process	Mitotic cell cycle	IEA
GO:0000902	Process	Cell morphogenesis	IEA
GO:0005225	Function	Volume-sensitive anion channel activity	IDA	34385445
GO:0005229	Function	Intracellularly calcium-gated chloride channel activity	IBA
GO:0005254	Function	Chloride channel activity	IDA	34385445
GO:0005254	Function	Chloride channel activity	TAS
GO:0005381	Function	Iron ion transmembrane transporter activity	NAS	10950931
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	28298427, 32296183, 32814053
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	34385445
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006821	Process	Chloride transport	IDA	16219661
GO:0006821	Process	Chloride transport	IEA
GO:0006826	Process	Iron ion transport	NAS	10950931
GO:0007155	Process	Cell adhesion	IEA
GO:0007219	Process	Notch signaling pathway	IEA
GO:0010467	Process	Gene expression	IEA
GO:0015813	Process	L-glutamate transmembrane transport	IEA
GO:0015813	Process	L-glutamate transmembrane transport	ISS
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	10950931
GO:0022008	Process	Neurogenesis	IEA
GO:0030868	Component	Smooth endoplasmic reticulum membrane	IBA
GO:0030868	Component	Smooth endoplasmic reticulum membrane	IEA
GO:0031527	Component	Filopodium membrane	IEA
GO:0031589	Process	Cell-substrate adhesion	IEA
GO:0032433	Component	Filopodium tip	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	TAS
GO:0034707	Component	Chloride channel complex	IEA
GO:0034755	Process	Iron ion transmembrane transport	IEA
GO:0045202	Component	Synapse	IEA
GO:0046847	Process	Filopodium assembly	IEA
GO:0048863	Process	Stem cell differentiation	IEA
GO:0072089	Process	Stem cell proliferation	IEA
GO:0072320	Function	Volume-sensitive chloride channel activity	IBA
GO:0072320	Function	Volume-sensitive chloride channel activity	IDA	16219661
GO:0098609	Process	Cell-cell adhesion	IEA
GO:1902476	Process	Chloride transmembrane transport	IEA

Other IDs

• MIM: 605784
• HGNC: 13476
• e!Ensembl: ENSG00000167614

Protein

• UniProt ID: Q9H313
• Protein name: Protein tweety homolog 1 (hTTY1) (Volume-regulated anion channel subunit TTYH1)
• Protein function: Calcium-independent, swelling-dependent volume-regulated anion channel (VRAC-swell) which plays a pivotal role in the process of regulatory volume decrease (RVD) in the brain through the efflux of anions like chloride and organic osmolytes like
• PDB: 7P5J
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04906	Tweety	26 → 435	Tweety	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in brain, eye, ovary and testis, and at lower levels in muscle, placenta, liver and lung. {ECO:0000269|PubMed:17116230}.
• Sequence:

  MGAPPGYRPSAWVHLLHQLPRADFQLRPVPSVFAPQEQEYQQALLLVAALAGLGLGLSLI
  FIAVYLIRFCCCRPPEPPGSKIPSPGGGCVTWSCIVALLAGCTGIGIGFYGNSETSDGVS
  QLSSALLHANHTLSTIDHLVLETVERLGEAVRTELTTLEEVLEPRTELVAAARGARRQAE
  AAAQQLQGLAFWQGVPLSPLQVAENVSFVEEYRWLAYVLLLLLELLVCLFTLLGLAKQSK
  WLVIVMTVMSLLVLVLSWGSMGLEAATAVGLSDFCSNPDPYVLNLTQEETGLSSDILSYY
  LLCNRAVSNPFQQRLTLSQRALANIHSQLLGLEREAVPQFPSAQKPLLSLEETLNVTEGN
  FHQLVALLHCRSLHKDYGAALRGLCEDALEGLLFLLLFSLLSAGALATALCSLPRAWALF
  PPSDDYDDTDDDDPFNPQESKRFVQWQSSI

• Sequence length: 450

Pathways

Reactome:

Stimuli-sensing channels

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
IDIOPATHIC PULMONARY FIBROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Neoplasms	Associate	31181821	★☆☆☆☆ Found in Text Mining only
Strabismus	Associate	33435129	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Associate	31974598, 33879671	★☆☆☆☆ Found in Text Mining only