TTYH1 - tweety family member 1 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 57348

About TTYH1

Cytogenetic location: 19q13.42 Genomic coordinates (GRCh38): 19:54,415,464-54,436,904 (from NCBI)

This gene has 17 transcripts (splice variants), 1 gene allele, 186 orthologues and 2 paralogues. Biased expression in brain (RPKM 71.7) and testis (RPKM 20.0).

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 variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jan 2011]

TTYH1 Products (3)

mRNA Protein Name
NM_001005367.3 NP_001005367.1 protein tweety homolog 1 isoform 2
NM_001201461.2 NP_001188390.1 protein tweety homolog 1 isoform 3
NM_020659.4 NP_065710.1 protein tweety homolog 1 isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
NOT enables chloride channel activity IDA
IDA: Inferred from direct assay
34385445 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
28298427 GOA
NOT enables volume-sensitive anion channel activity IDA
IDA: Inferred from direct assay
34385445 GOA
enables volume-sensitive chloride channel activity IDA
IDA: Inferred from direct assay
16219661 GOA
Biological Process GO Annotation Evidence References Source
involved in chloride transport IDA
IDA: Inferred from direct assay
16219661 GOA
Cellular Component GO Annotation Evidence References Source
located in plasma membrane IDA
IDA: Inferred from direct assay
34385445 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TTYH1 Protein Structure

Tweety

Tweety: Tweety (27 - 435)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 450 a.a.
Protein Preferred Names Protein Names

protein tweety homolog 1

  • hTTY1

TTYH1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
TTYH1 Q9H313 GPR37 Homo sapiens O15354
Ub Reconstruction
28298427
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Embryonal Tumor With Multilayered Rosettes, C19mc-Altered

  • Ependymoblastoma
Central Nervous System Primitive Neuroectodermal Neoplasm

  • Cpnet
Medulloepithelioma

  • Diktyoma, Malignant

  • Medulloepithelioma, Central Nervous System

  • Medulloepithelioma Of The Central Nervous System
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

  • Charcot-Marie-Tooth Disease Type 4

  • Charcot-Marie-Tooth Disease Type 4e

  • Hereditary Motor And Sensory Neuropathy

  • Cmt4e

  • CHN1

  • Hypomyelinating Neuropathy, Congenital, 1

  • Charcot-Marie-Tooth Neuropathy Type 4e

  • Neuropathy, Congenital Hypomyelinating, 1

  • Ar-Cmt1

  • Autosomal Recessive Demyelinating Charcot-Marie-Tooth

  • Cmt4

  • Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive

  • Hypomyelination, Severe Congenital

  • Charcot-Marie-Tooth Disease, Type 4e

  • Charcot-Marie-Tooth Neuropathy, Type 4e

  • Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy

  • Autosomal Recessive Congenital Hypomyelinating Neuropathy

  • Congenital Amyelinating Neuropathy

  • Congenital Hypomyelinating Neuropathy Autosomal Recessive

  • Neuropathy, Congenital Hypomyelinating Or Amyelinating

  • Severe Congenital Hypomyelination

  • Hereditary Sensory Motor Neuropathy

  • Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive

  • Neuropathy, Hypomyelinating, Congenital, Type 1

  • Neuropathy, Motor And Sensory, Hereditary

  • Congenital Hypomyelinating Neuropathy

  • Hereditary Motor And Sensory Neuropathies

  • Hereditary Sensorimotor Neuropathy

  • Hmsn - [Hereditary Motor And Sensory Neuropathy]

  • Hsmn - [Hereditary Sensory And Motor Neuropathy]

  • Hereditary Motor And Sensory Neuropathy, Types I-Iv
Atypical Teratoid Rhabdoid Tumor

  • Rhabdoid Tumor Predisposition Syndrome

  • Rtps

  • Atypical Teratoid/Rhabdoid Tumor

  • Rhabdoid Predisposition Syndrome

  • Familial Posterior Fossa Brain Tumor Of Infancy

  • Familial Rhabdoid Tumor

  • At/Rt

  • Atypical Teratoid Rhabdoid Tumour

  • Atypical Teratoid/Rhabdoid Tumour

  • Rhabdoid Tumor Of The Cns

  • Rhabdoid Tumour Of The Cns

  • Familial Posterior Fossa Brain Tumor Syndrome

  • Hereditary Swi/Snf Deficiency Syndrome

  • Atrt
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS15241 TTYH1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris TTYH1 VGNC VGNC:47984
Felis catus TTYH1 VGNC VGNC:97673
Bos taurus TTYH1 VGNC VGNC:36500
Macaca mulatta TTYH1 VGNC VGNC:78924
Rattus norvegicus TTYH1 RGD RGD:1310103
Mus musculus TTYH1 MGD MGI:1889007
Others TTYH1 NCBI