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TTYH1

gene
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Summary

TTYH1 (tweety family member 1, HGNC:13476) is a protein-coding gene on chromosome 19q13.42, encoding Protein tweety homolog 1 (Q9H313). 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 glutamate.

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.

Source: NCBI Gene 57348 — RefSeq curated summary.

At a glance

  • GWAS associations: 2
  • Clinical variants (ClinVar): 72 total
  • MANE Select transcript: NM_020659

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:13476
Approved symbolTTYH1
Nametweety family member 1
Location19q13.42
Locus typegene with protein product
StatusApproved
Ensembl geneENSG00000167614
Ensembl biotypeprotein_coding
OMIM605784
Entrez57348

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 9 protein_coding, 9 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay, 1 retained_intron

ENST00000301194, ENST00000376530, ENST00000376531, ENST00000391739, ENST00000423529, ENST00000425969, ENST00000445095, ENST00000461302, ENST00000462757, ENST00000462769, ENST00000467939, ENST00000476757, ENST00000476863, ENST00000478036, ENST00000487134, ENST00000489425, ENST00000492920, ENST00000893954, ENST00000893955, ENST00000893956, ENST00000893957

RefSeq mRNA: 3 — MANE Select: NM_020659 NM_001005367, NM_001201461, NM_020659

CCDS: CCDS12893, CCDS33106, CCDS56102

Canonical transcript exons

ENST00000376530 — 14 exons

ExonStartEnd
ENSE000019557455441546454415678
ENSE000034989345442988254429957
ENSE000035070375442127754421388
ENSE000035072995443109954431191
ENSE000035454845443609154436171
ENSE000035595005441912854419306
ENSE000035607645442219054422410
ENSE000035639835443081354430905
ENSE000036073735442930754429379
ENSE000036160695443582854435873
ENSE000036337635443554254435684
ENSE000036591085443055054430605
ENSE000036602835442667354426768
ENSE000038905745443633354436904

Expression profiles

Bgee: expression breadth ubiquitous, 139 present calls, max score 99.56.

FANTOM5 (CAGE): breadth broad, TPM avg 16.2983 / max 456.2389, expressed in 414 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter IDTPM avgSamples expressed
17749413.7911342
1774931.8333291
1774960.2825126
1775010.2131105
1775020.110868
1775030.067641

Top tissues by expression

139 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
ventricular zoneUBERON:000305399.56gold quality
putamenUBERON:000187499.48gold quality
caudate nucleusUBERON:000187399.47gold quality
nucleus accumbensUBERON:000188299.47gold quality
temporal lobeUBERON:000187199.45gold quality
amygdalaUBERON:000187699.44gold quality
substantia nigraUBERON:000203899.32gold quality
primary visual cortexUBERON:000243699.25gold quality
C1 segment of cervical spinal cordUBERON:000646999.23gold quality
Ammon’s hornUBERON:000195499.22gold quality
right frontal lobeUBERON:000281099.22gold quality
telencephalonUBERON:000189399.10gold quality
Brodmann (1909) area 9UBERON:001354099.04gold quality
superior frontal gyrusUBERON:000266199.00gold quality
hypothalamusUBERON:000189898.98gold quality
frontal cortexUBERON:000187098.96gold quality
dorsolateral prefrontal cortexUBERON:000983498.93gold quality
corpus callosumUBERON:000233698.92gold quality
cerebral cortexUBERON:000095698.87gold quality
anterior cingulate cortexUBERON:000983598.86gold quality
prefrontal cortexUBERON:000045198.81gold quality
ganglionic eminenceUBERON:000402398.63gold quality
right hemisphere of cerebellumUBERON:001489098.00gold quality
brainUBERON:000095597.96gold quality
right uterine tubeUBERON:000130297.95gold quality
cerebellumUBERON:000203797.16gold quality
cerebellar cortexUBERON:000212997.13gold quality
cerebellar hemisphereUBERON:000224597.09gold quality
left testisUBERON:000453395.84gold quality
peripheral nervous systemUBERON:000001095.76gold quality

Single-cell (SCXA)

Detected in 9 experiment(s), a significant marker in 9.

ExperimentMarker?Max mean expression
E-HCAD-56yes730.17
E-MTAB-8894yes324.13
E-HCAD-5yes307.86
E-MTAB-10485yes293.69
E-GEOD-93593yes158.38
E-MTAB-10018yes89.28
E-GEOD-137537yes34.14
E-HCAD-25yes21.65
E-ANND-3yes4.68

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

20 targeting TTYH1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-6798-5P100.0065.77699
HSA-MIR-1212199.9966.64255
HSA-MIR-4671-3P99.8872.461045
HSA-MIR-204-5P99.7971.622439
HSA-MIR-211-5P99.7971.652440
HSA-MIR-62399.7668.161170
HSA-MIR-10393-3P99.7266.56961
HSA-MIR-6801-5P99.7266.50981
HSA-MIR-4755-5P99.7170.342716
HSA-MIR-5006-3P99.7170.262728
HSA-MIR-365999.7067.97694
HSA-MIR-6832-3P99.5270.441726
HSA-MIR-1207-5P99.4969.112983
HSA-MIR-4763-3P99.1067.832649
HSA-MIR-447398.8969.10652
HSA-MIR-548S98.5067.171213
HSA-MIR-1227-3P97.3666.94834
HSA-MIR-203B-5P97.2468.54543
HSA-MIR-6718-5P97.2468.15553
HSA-MIR-191397.0766.201417

Literature-anchored findings (GeneRIF, showing 6)

  • Nedd4-2 differentially interacts with and regulates TTYH1-3 (PMID:18577513)
  • Fusion of TTYH1 with the C19MC microRNA cluster drives expression of a brain-specific DNMT3B isoform in the embryonal brain tumor. (PMID:24316981)
  • TTYH1 was not expressed in either the malignant or the control samples (PMID:25182704)
  • In this report, we identify tweety-homolog 1 (Ttyh1), a membrane protein linked to neuronal development, as a potent driver of tumor microtube (TM)-mediated brain colonization by glioma cells. (PMID:28607172)
  • Cryo-EM structures of the TTYH family reveal a novel architecture for lipid interactions. (PMID:34385445)
  • Drosophila tweety facilitates autophagy to regulate mitochondrial homeostasis and bioenergetics in Glia. (PMID:37870193)

Cross-species orthologs

6 orthologs

OrganismSymbolGene ID
danio_reriottyh1ENSDARG00000076804
mus_musculusTtyh1ENSMUSG00000030428
rattus_norvegicusTtyh1ENSRNOG00000032699
drosophila_melanogasterttyFBGN0015558
drosophila_melanogasterCG3638FBGN0261444
caenorhabditis_elegansWBGENE00009632

Paralogs (2): TTYH3 (ENSG00000136295), TTYH2 (ENSG00000141540)

Protein

Protein identifiers

Protein tweety homolog 1 — Q9H313 (reviewed: Q9H313)

Alternative names: Volume-regulated anion channel subunit TTYH1

All UniProt accessions (5): C9J3K6, E7ET67, Q9H313, F8WBE6, G8JLI0

UniProt curated annotations — full annotation on UniProt →

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 glutamate. Ca(2+)-independent, swelling-activated chloride channel, possibly involved in regulation of cell volume.

Subunit / interactions. Homotetramer; disulfide-linked. Homodimer.

Subcellular location. Cell membrane.

Tissue specificity. Expressed in brain, eye, ovary and testis, and at lower levels in muscle, placenta, liver and lung.

Post-translational modifications. N-glycosylated. Contains high-mannose, hybrid and complex oligosaccharides.

Similarity. Belongs to the tweety family.

Isoforms (5)

UniProt IDNamesCanonical?
Q9H313-11yes
Q9H313-22
Q9H313-33, TTYH1s
Q9H313-44
Q9H313-55

RefSeq proteins (3): NP_001005367, NP_001188390, NP_065710* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR006990TweetyFamily

Pfam: PF04906

Catalyzed reactions (Rhea), 2 shown:

  • chloride(in) = chloride(out) (RHEA:29823)
  • L-glutamate(out) = L-glutamate(in) (RHEA:66336)

UniProt features (30 total): splice variant 8, topological domain 6, transmembrane region 5, glycosylation site 4, disulfide bond 2, chain 1, region of interest 1, site 1, modified residue 1, sequence conflict 1

Structure

Experimental structures (PDB)

1 structures.

PDBMethodResolution (Å)
7P5JELECTRON MICROSCOPY4

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9H313-F189.780.78

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 165 (essential for the formation of the channel-pore)

Post-translational modifications (1): 440

Disulfide bonds (2): 275–385, 303–370

Glycosylation sites (4): 130, 205, 284, 355

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

IDPathway
R-HSA-2672351Stimuli-sensing channels

MSigDB gene sets: 178 (showing top): LEE_NEURAL_CREST_STEM_CELL_DN, BENPORATH_ES_WITH_H3K27ME3, GOBP_TRANSITION_METAL_ION_TRANSPORT, GOBP_INORGANIC_ANION_TRANSPORT, GOBP_NEUROGENESIS, CERVERA_SDHB_TARGETS_1_DN, GOBP_AMINO_ACID_TRANSMEMBRANE_TRANSPORT, GOBP_IRON_ION_TRANSPORT, GOBP_STEM_CELL_PROLIFERATION, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_ORGANIC_ACID_TRANSPORT, GOBP_CELL_CELL_ADHESION, MARTORIATI_MDM4_TARGETS_NEUROEPITHELIUM_DN, GOBP_CHLORIDE_TRANSPORT, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4

GO Biological Process (18): mitotic cell cycle (GO:0000278), cell morphogenesis (GO:0000902), chloride transport (GO:0006821), iron ion transport (GO:0006826), Notch signaling pathway (GO:0007219), gene expression (GO:0010467), L-glutamate transmembrane transport (GO:0015813), neurogenesis (GO:0022008), cell-substrate adhesion (GO:0031589), monoatomic ion transmembrane transport (GO:0034220), filopodium assembly (GO:0046847), stem cell differentiation (GO:0048863), stem cell proliferation (GO:0072089), cell-cell adhesion (GO:0098609), monoatomic ion transport (GO:0006811), cell adhesion (GO:0007155), iron ion transmembrane transport (GO:0034755), chloride transmembrane transport (GO:1902476)

GO Molecular Function (6): intracellularly calcium-gated chloride channel activity (GO:0005229), chloride channel activity (GO:0005254), iron ion transmembrane transporter activity (GO:0005381), calcium ion binding (GO:0005509), volume-sensitive chloride channel activity (GO:0072320), protein binding (GO:0005515)

GO Cellular Component (7): plasma membrane (GO:0005886), membrane (GO:0016020), smooth endoplasmic reticulum membrane (GO:0030868), filopodium membrane (GO:0031527), filopodium tip (GO:0032433), chloride channel complex (GO:0034707), synapse (GO:0045202)

Reactome top-level categories

Rollup of top-1 pathways:

CategoryPathways
Ion channel transport1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cell differentiation2
cell adhesion2
chloride channel activity2
cellular anatomical structure2
filopodium2
cell cycle1
mitotic nuclear division1
anatomical structure morphogenesis1
monoatomic anion transport1
inorganic anion transport1
transition metal ion transport1
cell surface receptor signaling pathway1
macromolecule biosynthetic process1
L-glutamate import1
L-alpha-amino acid transmembrane transport1
nervous system development1
monoatomic ion transport1
transmembrane transport1
plasma membrane bounded cell projection assembly1
cell population proliferation1
stem cell division1
transport1
cellular process1
iron ion transport1
monoatomic cation transmembrane transport1
chloride transport1
monoatomic anion transmembrane transport1
ligand-gated monoatomic anion channel activity1
intracellularly calcium-gated channel activity1
monoatomic anion channel activity1
chloride transmembrane transporter activity1
iron ion transmembrane transport1
transition metal ion transmembrane transporter activity1
metal ion binding1
volume-sensitive anion channel activity1
binding1
membrane1
cell periphery1
endoplasmic reticulum membrane1
smooth endoplasmic reticulum1

Protein interactions and networks

STRING

1092 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
TTYH1LENG8Q96PV6649
TTYH1CDC42EP5Q6NZY7617
TTYH1RER1O15258617
TTYH1LENG9Q96B70551
TTYH1LRRC8CQ8TDW0545
TTYH1LRRC8EQ6NSJ5531
TTYH1LRRC8AQ8IWT6505
TTYH1LRRC8DQ7L1W4494
TTYH1LRRC8BQ6P9F7494
TTYH1LAIR1Q6GTX8462
TTYH1KCPQ6ZWJ8461
TTYH1LAIR2Q6ISS4460
TTYH1RPS9P46781456
TTYH1FGFBP3Q8TAT2418
TTYH1FCARP24071387

IntAct

15 interactions, top by confidence:

ABTypeScore
GPR37TTYH1psi-mi:“MI:0915”(physical association)0.510
TTYH1GPR37psi-mi:“MI:0915”(physical association)0.510
TTYH1CCR9psi-mi:“MI:0915”(physical association)0.370
TTYH1DRD2psi-mi:“MI:0915”(physical association)0.370
TTYH1HTR6psi-mi:“MI:0915”(physical association)0.370
TTYH1TTYH1psi-mi:“MI:0407”(direct interaction)0.360
SNAP25STX7psi-mi:“MI:0914”(association)0.350
TTYH1TMEM223psi-mi:“MI:0914”(association)0.350
CD226TMED7-TICAM2psi-mi:“MI:0914”(association)0.350
CLGNTMEM131Lpsi-mi:“MI:0914”(association)0.350
EFNB1IPO5psi-mi:“MI:0914”(association)0.350
HTR1EESYT2psi-mi:“MI:0914”(association)0.350
S1PR1ISLRpsi-mi:“MI:0914”(association)0.350
DSCR9TTYH1psi-mi:“MI:0915”(physical association)0.000

BioGRID (301): TTYH1 (Affinity Capture-MS), TTYH1 (Two-hybrid), TTYH1 (Affinity Capture-Western), TTYH1 (Two-hybrid), TTYH1 (Two-hybrid), TTYH1 (Two-hybrid), TTYH1 (Two-hybrid), TTYH1 (Affinity Capture-RNA), ENTPD4 (Affinity Capture-MS), ALG9 (Affinity Capture-MS), GHDC (Affinity Capture-MS), TMEM219 (Affinity Capture-MS), SLC9A1 (Affinity Capture-MS), BSCL2 (Affinity Capture-MS), PTPLB (Affinity Capture-MS)

ESM2 similar proteins: A0PJX8, A4IFG4, A5D7M7, A6NKF7, A7MBM2, E9PY61, J3QMI4, L5KLU7, O70491, Q03395, Q08E36, Q0V8E7, Q0VD38, Q1KZG0, Q2KJ98, Q3SWY4, Q3TYP4, Q49LS1, Q4QR83, Q53RY4, Q5GH56, Q5GH64, Q5GH72, Q5R7B4, Q5T1A1, Q5XK03, Q66K66, Q674R7, Q6EBV9, Q6GQT5, Q6P5W5, Q6PEY1, Q6PRD1, Q80WF4, Q80ZU9, Q86XJ0, Q8BG75, Q8K177, Q8N144, Q8N4L1

Diamond homologs: P0C5X8, Q0V9V9, Q2KJ98, Q32LT7, Q3TH73, Q6AX57, Q6GM04, Q6GPA5, Q6NUZ2, Q6P1U2, Q6P5F7, Q7ZWN9, Q9BSA4, Q9C0H2, Q9D3A9, Q9H313, Q9MZZ8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

72 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance59
Likely benign5
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2401 predictions. Top by Δscore:

VariantEffectΔscore
19:54415667:G:GTdonor_gain1.0000
19:54415674:AGCAG:Adonor_loss1.0000
19:54415675:GCAG:Gdonor_gain1.0000
19:54415676:CAG:Cdonor_loss1.0000
19:54415677:AGGTG:Adonor_loss1.0000
19:54415678:GG:Gdonor_loss1.0000
19:54415679:GTGGG:Gdonor_loss1.0000
19:54422352:G:GTdonor_gain1.0000
19:54426667:TCCCA:Tacceptor_loss1.0000
19:54426668:CCCA:Cacceptor_loss1.0000
19:54426669:CCA:Cacceptor_loss1.0000
19:54426670:CAG:Cacceptor_loss1.0000
19:54426671:A:ATacceptor_loss1.0000
19:54426765:TCGTG:Tdonor_loss1.0000
19:54426766:CGTGT:Cdonor_loss1.0000
19:54426767:GT:Gdonor_gain1.0000
19:54426768:TGTA:Tdonor_loss1.0000
19:54426769:G:GAdonor_loss1.0000
19:54426769:G:GGdonor_gain1.0000
19:54426770:TAAG:Tdonor_loss1.0000
19:54429302:TCTA:Tacceptor_loss1.0000
19:54429304:TA:Tacceptor_loss1.0000
19:54429305:A:AGacceptor_gain1.0000
19:54429305:AG:Aacceptor_gain1.0000
19:54429306:G:Cacceptor_loss1.0000
19:54429306:G:GGacceptor_gain1.0000
19:54429306:GG:Gacceptor_gain1.0000
19:54429380:G:GGdonor_gain1.0000
19:54431097:A:AGacceptor_gain1.0000
19:54431098:G:GGacceptor_gain1.0000

AlphaMissense

2859 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
19:54421307:C:AN112K0.995
19:54421307:C:GN112K0.995
19:54422410:G:TR213M0.995
19:54435587:G:CG391R0.995
19:54421303:G:AG111D0.994
19:54429320:A:CS250R0.993
19:54429322:T:AS250R0.993
19:54429322:T:GS250R0.993
19:54429344:T:AW258R0.993
19:54429344:T:CW258R0.993
19:54429898:G:AC275Y0.993
19:54419173:A:CS58R0.992
19:54419175:C:AS58R0.992
19:54419175:C:GS58R0.992
19:54421294:G:AG108D0.992
19:54429888:A:CS272R0.992
19:54429890:T:AS272R0.992
19:54429890:T:GS272R0.992
19:54429897:T:AC275S0.992
19:54429898:G:CC275S0.992
19:54429899:C:GC275W0.992
19:54429897:T:CC275R0.991
19:54431176:C:GC370W0.991
19:54435570:G:AC385Y0.991
19:54421288:G:AG106D0.990
19:54421293:G:CG108R0.990
19:54421297:T:CF109S0.990
19:54426734:G:CG234R0.990
19:54431175:G:AC370Y0.990
19:54435587:G:TG391C0.990

dbSNP variants (sampled 300 via entrez): RS1000057837 (19:54432983 G>A), RS1000062574 (19:54432639 C>T), RS1000303252 (19:54416680 T>A,G), RS1000427212 (19:54416157 G>A,C), RS1000626078 (19:54414641 T>C,G), RS1000640808 (19:54415464 A>G), RS1000705200 (19:54419791 A>G), RS1000971067 (19:54419291 C>T), RS1000998223 (19:54423177 CAT>C), RS1001071148 (19:54422924 A>G,T), RS1001152363 (19:54428569 T>C), RS1001183500 (19:54428321 T>G), RS1001249983 (19:54427413 GGC>G), RS1001463161 (19:54428010 C>T), RS1002052840 (19:54415491 G>A,T)

Disease associations

OMIM: gene MIM:605784 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

2 associations (top):

StudyTraitp-value
GCST002039_8Blood trace element (Se levels)9.000000e-07
GCST004986_8Idiopathic pulmonary fibrosis3.000000e-09

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0000768idiopathic pulmonary fibrosis

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Acidincreases expression, increases methylation, affects cotreatment, decreases expression6
trichostatin Aaffects cotreatment, decreases expression3
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, increases expression, decreases expression2
Vorinostataffects cotreatment, decreases expression2
Benzo(a)pyreneaffects methylation, decreases expression2
Phenylmercuric Acetateaffects cotreatment, decreases expression2
p-Chloromercuribenzoic Aciddecreases expression, affects cotreatment2
aristolochic acid Iincreases expression1
methylmercuric chloridedecreases expression1
triphenyl phosphateaffects expression1
bisphenol Aaffects cotreatment, increases methylation1
benzo(e)pyrenedecreases methylation1
aflatoxin B2decreases methylation1
dorsomorphindecreases expression, affects cotreatment1
LDN 193189affects cotreatment, increases expression1
Fulvestrantaffects cotreatment, increases methylation1
Air Pollutantsincreases abundance, increases expression1
Calcitrioldecreases expression1
Cytarabineincreases expression1
Diethylhexyl Phthalatedecreases expression1
Methapyrilenedecreases methylation1
Nickeldecreases expression1
Tobacco Smoke Pollutionincreases expression1
Tretinoindecreases expression1
Asbestos, Crocidolitedecreases methylation1
Asbestos, Amositedecreases methylation1
Acrylamidedecreases expression1
Particulate Matterincreases abundance, increases expression1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
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This page pulls from 75 datasets indexed by BioBTree:

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