SLC26A5 - solute carrier family 26 member 5 Gene

中文名称：溶质载体家族 26 成员 5

种属: Homo sapiens

同用名: PRES; DFNB61

基因 ID: 375611 | 基因类型: protein coding

关于 SLC26A5

Cytogenetic location: 7q22.1 Genomic coordinates (GRCh38): 7:103,352,730-103,446,207 (from NCBI)

This gene has 15 transcripts (splice variants), 219 orthologues, 9 paralogues and is associated with 2 phenotypes. Ubiquitous expression in adrenal (RPKM 1.9), kidney (RPKM 1.8) and 25 other tissues.

功能概要

该基因编码 SLC26A/SulP 转运蛋白家族的成员。该蛋白质在耳蜗的活动外毛细胞 (OHC) 中起着分子马达的作用，诱导细胞长度的变化，从而起到放大声级的作用。跨膜蛋白是一种不完全的阴离子转运蛋白，它不允许阴离子穿过细胞膜，而是经历构象变化以响应细胞内 Cl- 水平的变化，从而导致细胞长度的变化。该蛋白质以微秒级的速度运行，比传统的分子马达蛋白快几个数量级。该基因的突变是导致神经感觉性耳聋的潜在候选者。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供，2009 年 11 月]

This gene encodes a member of the SLC26A/SulP transporter family. The protein functions as a molecular motor in motile outer hair cells (OHCs) of the cochlea, inducing changes in cell length that act to amplify sound levels. The transmembrane protein is an incomplete anion transporter, and does not allow anions to cross the cell membrane but instead undergoes a conformational change in response to changes in intracellular Cl- levels that results in a change in cell length. The protein functions at microsecond rates, which is several orders of magnitude faster than conventional molecular motor proteins. Mutations in this gene are potential candidates for causing neurosensory deafness. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2009]

SLC26A5 基因产物(6)

mRNA	Protein	Name
NM_001167962.2	NP_001161434.1	prestin isoform e
NM_001321787.2	NP_001308716.1	prestin isoform f
NM_198999.3	NP_945350.1	prestin isoform a
NM_206883.3	NP_996766.1	prestin isoform b
NM_206884.3	NP_996767.1	prestin isoform c
NM_206885.3	NP_996768.1	prestin isoform d

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
enables protein binding	IPI IPI: 通过物理相互作用推断	32296183	GOA
enables protein homodimerization activity	IDA IDA: 通过直接分析推断	34390643	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in sensory perception of sound	IMP IMP: 通过突变表型推断	12719379	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in lateral plasma membrane	IDA IDA: 通过直接分析推断	12584604	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

SLC26A5 蛋白结构

Sulfate_transp

STAS

0
200
400
600
744 a.a.

蛋白主名

其他名称

prestin

prestin (motor protein)

关联疾病

疾病名称

别名

Deafness, Autosomal Recessive 61

DFNB61	Autosomal Recessive Nonsyndromic Deafness 61
Autosomal Recessive Deafness 61	Deafness, Autosomal Recessive, 61
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 61	Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 61
Deafness, Autosomal Recessive, Type 61

Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb	Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb
Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb	Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb
Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb	Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb
Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb

Diastrophic Dysplasia

Diastrophic Dwarfism	DTD
Dd	Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant
Dysplasia, Diastrophic	Diastrophic Dysplasia Variant

Pendred Syndrome

Goiter-Deafness Syndrome	Deafness With Goiter
PDS	Thyroid Dyshormonogenesis 2b
Tdh2b	Autosomal Recessive Sensorineural Hearing Impairment And Goiter
Pendred'S Syndrome	Thyroid Hormonogenesis, Genetic Defect In, 2b
Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2b	Congenital Hypothyroidism Due To Dyshormonogenesis 2b
Genetic Defect In Thyroid Hormonogenesis 2b	Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct, And Goiter
Goiter-Hearing Loss Syndrome	Goitre-Deafness Syndrome
Goitre Deafness

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

Pollen Allergy

Hay Fever

Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct

Enlarged Vestibular Aqueduct	DFNB4
Neurosensory Nonsyndromic Recessive Deafness 4	Enlarged Vestibular Aqueduct Syndrome
Nsrd4	Autosomal Recessive Nonsyndromic Deafness 4
Dilated Vestibular Aqueduct	Dva
Enlarged Vestibular Aqueduct, Digenic	Autosomal Recessive Deafness 4 With Enlarged Vestibular Aqueduct
Large Vestibular Aqueduct Syndrome	Deafness, Autosomal Recessive, 4
Deafness Neurosensory Autosomal Recessive 4	Eva
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 4	Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 4
Deafness, Autosomal Recessive, Type 4 , With Enlarged Vestibular Aqueduct

Peripheral Vertigo

Vertigo, Peripheral

Vestibular Disease

Vestibular Diseases	Vertigo, Vestibular Disorder
Vestibular Disorder	Diseases Of Inner Ear

Auditory System Disease

Ear Diseases

Ear And Mastoid Disease

Autosomal Recessive Nonsyndromic Deafness

Deafness, Autosomal Recessive, Nonsyndromic

Autosomal Dominant Nonsyndromic Deafness

Autosomal Dominant Deafness

Usher Syndrome

Deafness-Retinitis Pigmentosa Syndrome	Dystrophia Retinae Pigmentosa-Dysostosis Syndrome
Graefe-Usher Syndrome	Hallgren Syndrome
Usher'S Syndrome	Retinitis Pigmentosa-Deafness Syndrome
Retinitis Pigmentosa-Hearing Loss Syndrome	Ush
Usher Syndromes

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-RS13139	SLC26A5 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	SLC26A5	RGD	RGD:69334
Felis catus	SLC26A5	VGNC	VGNC:69041
Canis familiaris	SLC26A5	VGNC	VGNC:46325
Macaca mulatta	SLC26A5	VGNC	VGNC:77597
Mus musculus	SLC26A5	MGD	MGI:1933154
Bos taurus	SLC26A5	VGNC	VGNC:34780
Others	SLC26A5	NCBI

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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

沪ICP备15051369号-4

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）

SLC26A5 - solute carrier family 26 member 5 Gene

关于 SLC26A5

功能概要

SLC26A5 基因产物(6)

SLC26A5 蛋白结构

关联疾病

直系同源

热门区域

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SLC26A5 - solute carrier family 26 member 5 Gene

关于 SLC26A5

功能概要

SLC26A5 基因产物(6)

SLC26A5 蛋白结构

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