1. Gene
  2. SLC9B1 - solute carrier family 9 member B1 Gene

SLC9B1 - solute carrier family 9 member B1 Gene

中文名称:溶质载体家族 9 成员 B1

种属: Homo sapiens

同用名: NHA1; NHEDC1

基因 ID: 150159 | 基因类型: protein coding

关于 SLC9B1

Cytogenetic location: 4q24 Genomic coordinates (GRCh38): 4:102,885,049-103,019,705 (from NCBI)

This gene has 11 transcripts (splice variants), 291 orthologues and 1 paralogue. Broad expression in testis (RPKM 16.0), kidney (RPKM 1.8) and 17 other tissues.

功能概要

该基因编码的蛋白质是钠/氢交换剂和跨膜蛋白。已在其他哺乳动物物种中发现该基因的高度保守直系同源物。该基因的表达可能仅限于睾丸。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2010 年 7 月]

The protein encoded by this gene is a sodium/hydrogen exchanger and transmembrane protein. Highly conserved orthologs of this gene have been found in other mammalian species. The expression of this gene may be limited to testis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]

SLC9B1 基因产物(2)

mRNA Protein Name
NM_001100874.3 NP_001094344.2 sodium/hydrogen exchanger 9B1 isoform 2
NM_139173.4 NP_631912.3 sodium/hydrogen exchanger 9B1 isoform 1

SLC9B1 蛋白结构

Na_H_Exchanger

Na_H_Exchanger: Sodium/hydrogen exchanger family (100 - 482)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 515 a.a.
蛋白主名 其他名称

sodium/hydrogen exchanger 9B1

NHE domain-containing protein 1

关联疾病

疾病名称 别名
Wolfram Syndrome 2

WFS2

Tinea Nigra

Microsporosis Nigra

Infection By Cladosporium Werneckii

Keratomycosis Nigricans

Tinea Palmaris Nigra

Keratomycosis Nigricans Palmaris

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

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
Macaca mulatta SLC9B1 VGNC VGNC:100270
Rattus norvegicus SLC9B1 RGD RGD:1305087
Mus musculus SLC9B1 MGD MGI:1921696
Canis familiaris SLC9B1 VGNC VGNC:57412