2. Gene
  3. SLC17A9 - solute carrier family 17 member 9 Gene

SLC17A9 - solute carrier family 17 member 9 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：溶质载体家族 17 成员 9

种属: Homo sapiens

同用名: VNUT; POROK8; C20orf59

基因 ID: 63910 | 基因类型: protein coding

关于 SLC17A9

Cytogenetic location: 20q13.33 Genomic coordinates (GRCh38): 20:62,952,709-62,969,585 (from NCBI)

This gene has 7 transcripts (splice variants), 259 orthologues, 12 paralogues and is associated with 2 phenotypes. Broad expression in stomach (RPKM 12.3), bone marrow (RPKM 8.3) and 20 other tissues.

功能概要

该基因编码参与小分子运输的跨膜蛋白家族成员。编码的蛋白质参与三磷酸腺苷 (ATP) 和其他核苷酸的囊泡摄取、储存和分泌。在患有常染色体显性遗传性播散性浅表光化性汗孔角化症 8 的个体中发现了该基因的突变。可变剪接导致多个转录本变体。[RefSeq 提供，2014 年 11 月]

This gene encodes a member of a family of transmembrane proteins that are involved in the transport of small molecules. The encoded protein participates in the vesicular uptake, storage, and secretion of adenoside triphosphate (ATP) and Other nucleotides. A mutation in this gene was found in individuals with autosomal dominant disseminated superficial actinic porokeratosis-8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

SLC17A9 基因产物(2)

mRNA Protein Name
NM_001302643.2 NP_001289572.2 solute carrier family 17 member 9 isoform 2
NM_022082.4 NP_071365.4 solute carrier family 17 member 9 isoform 1

SLC17A9 蛋白结构

MFS_1

MFS_1: Major Facilitator Superfamily (30 - 386)

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

solute carrier family 17 member 9

solute carrier family 17 (vesicular nucleotide transporter), member 9

SLC17A9 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
SLC17A9 Q9BYT1 SMG9 Homo sapiens Q9H0W8
Validated Y2H
32296183
种属内
SLC17A9 Q9BYT1 DIABLO Homo sapiens Q9NR28
Validated Y2H
32296183
种属内
SLC17A9 Q9BYT1 MYG1 Homo sapiens Q9HB07
Validated Y2H
32296183
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
Porokeratosis 8, Disseminated Superficial Actinic Type

POROK8

Porokeratosis, Type 8, Disseminated Superficial Actinic Type
Porokeratosis

Disseminated Superficial Actinic Porokeratosis

Dsap

Porokeratosis Of Mibelli

Porokeratosis, Disseminated Superficial Actinic

Porokeratosis, Disseminated Superficial Actinic, 1
Punctate Porokeratosis

Porokeratosis, Punctate

Keratoderma, Palmoplantar, Punctate Type Ii
Linear Porokeratosis

Congenital Facial Linear Porokeratosis

Porokeratosis, Linear
Deafness, Autosomal Dominant 67

DFNA67

Autosomal Dominant Nonsyndromic Deafness 67

Autosomal Dominant Deafness 67

Deafness, Autosomal Dominant, 67

Deafness, Autosomal Dominant, Type 67
Atrophoderma Vermiculata

Atrophoderma Vermiculatum

Folliculitis Ulerythematosa Reticulata

Atrophodermia Vermiculata

Honeycomb Atrophy

Atrophodermia Reticulata Symmetrica Faciei

AVA

Atrophodermia Reticulata

Folliculitis Ulerythematosa

Folliculitis Ulerythematosa Reticulate

Burnett Schwartz Berberian Syndrome
Thiamine-Responsive Megaloblastic Anemia Syndrome

TRMA

Rogers Syndrome

Thiamine-Responsive Myelodysplasia

Thiamine-Responsive Anemia Syndrome

Thiamine Metabolism Dysfunction Syndrome 1

Thmd1

Megaloblastic Anemia, Thiamine-Responsive, With Diabetes Mellitus And Sensorineural Deafness

Thiamine-Responsive Megaloblastic Anemia With Diabetes Mellitus And Sensorineural Deafness

Thiamine Responsive Megaloblastic Anemia Syndrome

Megaloblastic Anemia Thiamine-Responsive With Diabetes Mellitus And Sensorineural Deafness

Thiamine-Responsive Megaloblastic Anemia

Thiamine-Responsive Anaemia Syndrome

Thiamine-Responsive Megaloblastic Anaemia Syndrome

Thiamine-Responsive Megaloblastic Anaemia With Diabetes Mellitus And Sensorineural Deafness

Thiamine-Responsive Megaloblastic Anemia With Diabetes Mellitus And Sensorineural Hearing Loss
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS13042 SLC17A9 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus SLC17A9 VGNC VGNC:65225
Mus musculus SLC17A9 MGD MGI:1919107
Rattus norvegicus SLC17A9 RGD RGD:1311940
Bos taurus SLC17A9 VGNC VGNC:34704
Macaca mulatta SLC17A9 VGNC VGNC:77492
Canis familiaris SLC17A9 VGNC VGNC:46254
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