1. Gene
  2. SLC9A7 - solute carrier family 9 member A7 Gene

SLC9A7 - solute carrier family 9 member A7 Gene

中文名称:溶质载体家族 9 成员 A7

种属: Homo sapiens

同用名: NHE7; NHE-7; MRX108; SLC9A6

基因 ID: 84679 | 基因类型: protein coding

关于 SLC9A7

Cytogenetic location: Xp11.3 Genomic coordinates (GRCh38): X:46,599,251-46,759,118 (from NCBI)

This gene has 5 transcripts (splice variants), 202 orthologues, 10 paralogues and is associated with 3 phenotypes. Broad expression in brain (RPKM 6.0), lymph node (RPKM 3.6) and 24 other tissues.

功能概要

该基因编码钠和钾/质子反向转运蛋白,它是溶质载体家族 9 蛋白家族的成员。编码的蛋白质主要定位于跨高尔基体网络,并参与维持细胞器沿分泌和内吞途径的 pH 稳态。这种蛋白质可以增强某些乳腺肿瘤的细胞生长。该基因是染色体 Xp11.23 上基因簇的一部分。在 12 号染色体上发现了该基因的假基因。交替剪接导致多个转录变体。[RefSeq 提供,2012 年 3 月]

This gene encodes a sodium and potassium/ proton antiporter that is a member of the solute carrier family 9 protein family. The encoded protein is primarily localized to the trans-Golgi network and is involved in maintaining pH homeostasis in organelles along the secretory and endocytic pathways. This protein may enhance cell growth of certain breast tumors. This gene is part of a gene cluster on chromosome Xp11.23. A pseudogene of this gene is found on chromosome 12. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]

SLC9A7 基因产物(2)

mRNA Protein Name
NM_001257291.2 NP_001244220.1 sodium/hydrogen exchanger 7 isoform 1 precursor
NM_032591.3 NP_115980.1 sodium/hydrogen exchanger 7 isoform 2 precursor
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 potassium:proton antiporter activity IDA
IDA: 通过直接分析推断
11279194 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
15840657 GOA
enables sodium:proton antiporter activity IDA
IDA: 通过直接分析推断
11279194 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in regulation of Golgi lumen acidification IMP
IMP: 通过突变表型推断
30335141 GOA
involved in regulation of pH IDA
IDA: 通过直接分析推断
11279194 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in membrane IDA
IDA: 通过直接分析推断
11279194 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
30335141 GOA
located in recycling endosome membrane IDA
IDA: 通过直接分析推断
15840657 GOA
located in trans-Golgi network IDA
IDA: 通过直接分析推断
11279194 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

SLC9A7 蛋白结构

Na_H_Exchanger

Na_H_Exchanger: Sodium/hydrogen exchanger family (79 - 534)

  • 0
  • 200
  • 400
  • 600
  • 725 a.a.
蛋白主名 其他名称

sodium/hydrogen exchanger 7

Na(+)/H(+) exchanger 7

SLC9A7 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
SLC9A7 Q96T83 SCAMP2 Homo sapiens O15127 15840657
种属内
SLC9A7 Q96T83 SCAMP2 Homo sapiens O15127 15840657
种属内
SLC9A7 Q96T83 SCAMP2 Homo sapiens O15127 15840657
种属内
SLC9A7 Q96T83 SCAMP2 Homo sapiens O15127
Y2H
15840657
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
Intellectual Developmental Disorder, X-Linked 108

MRX108

X-Linked Intellectual Developmental Disorder 108

Mental Retardation, X-Linked 108

Mental Retardation, X-Linked, Type 108

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability

Non-Specific X-Linked Mental Retardation

X-Linked Non-Specific Intellectual Disability

Christianson Syndrome

X-Linked Angelman-Like Syndrome

X-Linked Intellectual Disability, South African Type

X-Linked Intellectual Disability-Craniofacial Dysmorphism-Epilepsy-Ophthalmoplegia-Cerebellar Atrophy Syndrome

Mental Retardation, Microcephaly, Epilepsy, And Ataxia Syndrome

Mental Retardation, X-Linked Syndromic, Christianson Type

Mrxsch

Angelman-Like Syndrome X-Linked

Intellectual Disability Microcephaly Epilepsy And Ataxia Syndrome

Intellectual Disability X-Linked Syndromic Christianson Type

Mrxs Christianson

X-Linked Intellectual Disability - Craniofacial Dysmorphism - Epilepsy - Ophthalmoplegia - Cerebellar Atrophy

Angelman-Like Syndrome, X-Linked

Intellectual Deficit, X-Linked, South African Type

Mental Retardation X-Linked, South African Type

Mental Retardation, X-Linked, Syndromic, Christianson Type

Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type

MRXSBL

Mental Retardation, X-Linked, With Cerebellar Hypoplasia And Distinctive Facial Appearance

X-Linked Mental Retardation With Cerebellar Hypoplasia And Distinctive Facial Appearance

Mental Retardation, X-Linked 60, Formerly

Mrx60, Formerly

Intellectual Developmental Disorder, X-Linked Syndromic, Billuart Type

Mrx60

Mental Retardation, X-Linked, With Cerebellar Hypoplasia, Distinctive Facial Appearance

Deafness, Dystonia, And Cerebral Hypomyelination

Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome

DDCH

Cadds

Severe Motor And Intellectual Disabilities-Sensorineural Hearing Loss-Dystonia Syndrome

Contiguous Abcd1 Dxs1357e Deletion Syndrome

Zellweger-Like Contiguous Gene Deletion Syndrome

Contiguous Abcd1/Dxs1375e Deletion Syndrome

Deafness, Dystonia, Cerebral Hypomyelination

Contiguous Abcd1-Dxs1375e Deletion Syndrome

Brown-Vialetto-Van Laere Syndrome 1

BVVLS1

Pontobulbar Palsy With Deafness

Bulbar Palsy, Progressive, With Sensorineural Deafness

Rfvt2-Related Riboflavin Transporter Deficiency

Rtd2

Riboflavin Transporter Deficiency 2

Bulbar Palsy Progressive With Sensorineural Deafness

Riboflavin Transporter Deficiency Type 2

Brown-Vialetto-Van Laere Syndrome, Type 1

Brown-Vialetto-Van Laere Syndrome

Cystinuria

CSNU

Cystinuria Type B

Cystinuria Type A

Cystinuria, Type I, Formerly

Csnu1, Formerly

Cystinuria, Type Ii, Formerly

Cystinuria, Type Iii, Formerly

Csnu3, Formerly

Cystinuria, Type Non-I, Formerly

Cystinuria-Lysinuria

Cystinuria-Lysinuria Syndrome

Csnu1

Csnu3

Cystinuria 1

Cystinuria Type A/B

Cystinuria Type I

Cystinuria Type Ii

Cystinuria Type Iii

Cystinuria Type Non-I

Cystinuria, Type A/B

Cystinuria Type 1

Cystinuria - Lysinuria

Csnu - [Cystinuria]

Cystine Disease

Mowat-Wilson Syndrome

MOWS

Microcephaly, Mental Retardation, And Distinct Facial Features, With Or Without Hirschsprung Disease

Hirschsprung Disease-Mental Retardation Syndrome

Mowat-Wilson Syndrome Due To Monosomy 2q22

Hirschsprung Disease Mental Retardation Syndrome

Microcephaly, Mental Retardation, And Distinct Facial Featrues, With Or Without Hirschprung Disease

Hirschsprung Disease - Intellectual Disability Syndrome

Hirschsprung Disease Intellectual Disability Syndrome

Intellectual Disability, Microcephaly, And Distinct Facial Features With Or Without Hirschsprung Disease

Mws

Hirschsprung Disease-Intellectual Disability Syndrome

Hirschsprung Disease And Intellectual Disability Due To 2q22 Microdeletion

Hirschsprung Disease And Intellectual Disability Due To Del(2)(Q22)

Hirschsprung Disease And Intellectual Disability Due To Monosomy 2q22

Mowat-Wilson Syndrome Due To 2q22 Microdeletion

Mowat-Wilson Syndrome Due To Del(2)Q(22)

Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation

Hirschsprung Disease And Intellectual Disability Due To A Zeb2 Point Mutation

Syndromic X-Linked Intellectual Disability

X-Linked Syndromic Intellectual Disability

Pitt-Hopkins Syndrome

PTHS

Encephalopathy, Severe Epileptic, With Autonomic Dysfunction

Mental Retardation, Syndromal, With Intermittent Hyperventilation

Intellectual Disability, Wide Mouth, Distinctive Facial Features, And Intermittent Hyperventilation Followed By Apnea

Pitt Hopkins Syndrome

Phs

Encephalopathy Severe Epileptic With Autonomic Dysfunction

Developmental And Epileptic Encephalopathy 94

Epileptic Encephalopathy, Childhood-Onset

Eeoc

DEE94

Childhood Onset Epileptic Encephalopathy

Encephalopathy, Epileptic, Childhood-Onset

Syndromic Intellectual Disability
Landau-Kleffner Syndrome

Acquired Epileptic Aphasia

Lks

Acquired Aphasia With Convulsive Disorder

Acquired Epileptiform Aphasia

Landau Kleffner Syndrome

Childhood Epileptic Aphasia

Intellectual Developmental Disorder, Autosomal Dominant 41

MRD41

Autosomal Dominant Non-Syndromic Intellectual Disability 41

Mental Retardation, Autosomal Dominant 41

Autosomal Dominant Intellectual Developmental Disorder 41

Autosomal Dominant Mental Retardation 41

Mental Retardation, Autosomal Dominant, Type 41

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy

Benign Rolandic Epilepsy

Epilepsy, Rolandic

Bcects

Benign Childhood Epilepsy With Centrotemporal Spike

Sylvan Seizures

Becrs

Bects

Bre

Benign Epilepsy Of Childhood With Centrotemporal Spikes

Benign Familial Epilepsy Of Childhood With Rolandic Spikes

Centrotemporal Epilepsy

West Syndrome

Infantile Spasms

Infantile Spasms Syndrome

Infantile Spasm

X-Linked Infantile Spasm Syndrome

X-Linked Infantile Spasms

Epileptic Encephalopathy, Early Infantile, 1

Is

Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

West'S Syndrome

Spasms, Infantile

Is -[Infantile Spasm]

Salaam Spasm

Salaam Tic

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

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

直系同源

种属 基因名 来源 基因 ID
Felis catus SLC9A7 VGNC VGNC:65438
Rattus norvegicus SLC9A7 RGD RGD:1561385
Bos taurus SLC9A7 VGNC VGNC:54488
Canis familiaris SLC9A7 VGNC VGNC:46489
Macaca mulatta SLC9A7 VGNC VGNC:103867
Mus musculus SLC9A7 MGD MGI:2444530