TTYH1 - tweety family member 1 Gene

Homo sapiens

Gene ID: 57348 | Gene type: protein coding

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	Reference	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	Reference	Source
involved in chloride transport	IDA IDA: Inferred from direct assay	16219661	GOA

Cellular Component GO Annotation	Evidence	Reference	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

0
100
200
300
400
450 a.a.

Protein Preferred Names

Protein Names

protein tweety homolog 1

hTTY1

TTYH1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15241	TTYH1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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