TTYH1 - tweety family member 1 Gene

中文名称：tweety 家族成员 1

种属: Homo sapiens

基因 ID: 57348 | 基因类型: protein coding

关于 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).

功能概要

该基因编码 tweety 蛋白质家族的成员。这个家族的成员起到氯离子通道的作用。编码的蛋白质作为钙 (2+) 独立、体积敏感的大电导氯化物 (-) 通道发挥作用。已经为该基因鉴定了编码不同亚型的三种转录物变体。[RefSeq 提供，2011 年 1 月]

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 基因产物(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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
NOT enables chloride channel activity	IDA IDA: 通过直接分析推断	34385445	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	28298427	GOA
NOT enables volume-sensitive anion channel activity	IDA IDA: 通过直接分析推断	34385445	GOA
enables volume-sensitive chloride channel activity	IDA IDA: 通过直接分析推断	16219661	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in chloride transport	IDA IDA: 通过直接分析推断	16219661	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in plasma membrane	IDA IDA: 通过直接分析推断	34385445	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

TTYH1 蛋白结构

Tweety

0
100
200
300
400
450 a.a.

蛋白主名

其他名称

protein tweety homolog 1

hTTY1

TTYH1 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	TTYH1	Q9H313	GPR37	Homo sapiens	O15354	Ub Reconstruction	28298427

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS15241	TTYH1 Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 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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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

粤ICP备2021105330号-3

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

TTYH1 - tweety family member 1 Gene

关于 TTYH1

功能概要

TTYH1 基因产物(3)

TTYH1 蛋白结构

TTYH1 蛋白互作信息

关联疾病

直系同源

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TTYH1 - tweety family member 1 Gene

关于 TTYH1

功能概要

TTYH1 基因产物(3)

TTYH1 蛋白结构

TTYH1 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z