TTYH1
Protein tweety homolog 1
Also known as: TTYH1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9H313
- Gene
- TTYH1
- Ensembl
- ENSG00000167614
- Chromosome
- 19
- Canonical length
- 450 aa
- Protein class
- Predicted membrane proteins, Transporters
- Subcellular location
- Nucleoplasm,Plasma membrane
- Quaternary structure
- Homotetramer
OverviewNCBI Gene
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 variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jan 2011]
Canonical amino-acid sequenceUniProt
450 residues, UniProt reviewed canonical sequence.
>Q9H313|TTYH1
1 MGAPPGYRPS AWVHLLHQLP RADFQLRPVP SVFAPQEQEY QQALLLVAAL AGLGLGLSLI
61 FIAVYLIRFC CCRPPEPPGS KIPSPGGGCV TWSCIVALLA GCTGIGIGFY GNSETSDGVS
121 QLSSALLHAN HTLSTIDHLV LETVERLGEA VRTELTTLEE VLEPRTELVA AARGARRQAE
181 AAAQQLQGLA FWQGVPLSPL QVAENVSFVE EYRWLAYVLL LLLELLVCLF TLLGLAKQSK
241 WLVIVMTVMS LLVLVLSWGS MGLEAATAVG LSDFCSNPDP YVLNLTQEET GLSSDILSYY
301 LLCNRAVSNP FQQRLTLSQR ALANIHSQLL GLEREAVPQF PSAQKPLLSL EETLNVTEGN
361 FHQLVALLHC RSLHKDYGAA LRGLCEDALE GLLFLLLFSL LSAGALATAL CSLPRAWALF
421 PPSDDYDDTD DDDPFNPQES KRFVQWQSSILocalizationUniProt · AlphaFold · HPA
Whether an antibody against TTYH1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 5
- Mean surface accessibility (rSASA)
- 0.3
- Highest tissue expression
- 419 nTPM
Expression across tissuesHPA
Tissue
- basal ganglia: 419 nTPM
- amygdala: 378 nTPM
- cerebral cortex: 340 nTPM
- midbrain: 298 nTPM
- hippocampal formation: 237 nTPM
- spinal cord: 221 nTPM
Single-cell type
- astrocytes: 426 nCPM
- bergmann glia: 398 nCPM
- oligodendrocytes: 162 nCPM
- oligodendrocyte progenitor cells: 109 nCPM
- ependymal cells: 95 nCPM
- fallopian secretory cells: 27 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- thalamus: 84 nTPM
- spinal cord: 79 nTPM
- basal ganglia: 77 nTPM
- medulla oblongata: 76 nTPM
- white matter: 75 nTPM
- midbrain: 75 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.25
- gnomAD pLI
- 1
- gnomAD missense Z
- 0.38
- DepMap mean gene effect
- 0.01
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cell morphogenesis
- cell-cell adhesion
- cell-substrate adhesion
- chloride transport
- filopodium assembly
- gene expression
- iron ion transport
- L-glutamate transmembrane transport
- mitotic cell cycle
- monoatomic ion transmembrane transport
- neurogenesis
- Notch signaling pathway
- stem cell differentiation
- stem cell proliferation
Molecular functions
- calcium ion binding
- chloride channel activity
- intracellularly calcium-gated chloride channel activity
- iron ion transmembrane transporter activity
- volume-sensitive chloride channel activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of TTYH1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads TTYH1 as an antibody target. Whether an autoantibody or antibody against TTYH1 could matter depends on whether native TTYH1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TTYH1 is annotated at the cell surface, where native TTYH1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label TTYH1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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