2. Gene
  3. SLC45A1 - solute carrier family 45 member 1 Gene

SLC45A1 - solute carrier family 45 member 1 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 45 成员 1

种属: Homo sapiens

同用名: DNB5; IDDNPF; PAST-A

基因 ID: 50651 | 基因类型: protein coding

关于 SLC45A1

Cytogenetic location: 1p36.23 Genomic coordinates (GRCh38): 1:8,318,114-8,344,165 (from NCBI)

This gene has 4 transcripts (splice variants), 195 orthologues, 3 paralogues and is associated with 3 phenotypes. Broad expression in brain (RPKM 4.3), endometrium (RPKM 1.5) and 19 other tissues.

功能概要

该基因最初是从染色体 1p 上的一个区域分离出来的，该区域在人类神经母细胞瘤中经常被删除，尽管此后没有证明因果关系。编码的蛋白质属于糖苷-戊糖苷-己糖醛酸阳离子同向转运体转运蛋白家族，可能在葡萄糖摄取中发挥作用。[RefSeq 提供，2014 年 3 月]

This gene was isolated initially from a region on chromosome 1p that is frequently deleted in human neuroblastoma, although no causal relationship has since been demonstrated. The encoded protein belongs to the glycoside-pentoside-hexuronide cation symporter transporter family and may play a role in glucose uptake. [provided by RefSeq, Mar 2014]

SLC45A1 基因产物(6)

mRNA Protein Name
NM_001080397.3 NP_001073866.3 proton-associated sugar transporter A isoform 2
NM_001379614.1 NP_001366543.1 proton-associated sugar transporter A isoform 1
NM_001379615.1 NP_001366544.1 proton-associated sugar transporter A isoform 3
NM_001379616.1 NP_001366545.1 proton-associated sugar transporter A isoform 4
NM_001379617.1 NP_001366546.1 proton-associated sugar transporter A isoform 5
NM_001379618.1 NP_001366547.1 proton-associated sugar transporter A isoform 6

SLC45A1 蛋白结构

MFS_1

MFS_1: Major Facilitator Superfamily (110 - 310)

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

proton-associated sugar transporter A

H+/sugar symporter

关联疾病

疾病名称 别名
Intellectual Developmental Disorder With Neuropsychiatric Features

IDDNPF
Autosomal Recessive Non-Syndromic Intellectual Disability

Ar-Nsid

Ns-Arid
Neuroblastoma 5

Neuroblastoma, Susceptibility To, 5

NBLST5
Hypopigmentation Of Eyelid
Hyperekplexia 3

HKPX3

Hyperekplexia, Type 3
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
Neuroblastoma

Nb

Neuroblastoma, Susceptibility To

Neuroblastomas

Central Neuroblastoma
Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders
Brown-Vialetto-Van Laere Syndrome
Hyperekplexia

Hereditary Hyperekplexia

Kok Disease

Congenital Stiff Man Syndrome

Familial Startle Disease

Sthe

Stiff-Baby Syndrome

Hereditary Hyperexplexia

Startle Disease

Exaggerated Startle Reaction

Hyperexplexia Hereditary

Startle Disease, Familial

Startle Reaction, Exaggerated

Stiff-Man Syndrome, Congenital

Stiff-Person Syndrome, Congenital

Congenital Stiff-Man Syndrome

Congenital Stiff-Person Syndrome

Familial Hyperekplexia

Startle Syndrome

Stiff Baby Syndrome

Hyperekplexia, Hereditary

Stiff-Person Syndrome
Autosomal Recessive Intellectual Developmental Disorder

Mental Retardation, Autosomal Recessive

Autosomal Recessive Mental Retardation

Autosomal Recessive Non-Syndromic Mental Retardation

Autosomal Recessive Non-Syndromic Intellectual Disability
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-RS13256 SLC45A1 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 SLC45A1 RGD RGD:708502
Mus musculus SLC45A1 MGD MGI:2653235
Canis familiaris SLC45A1 VGNC VGNC:46422
Bos taurus SLC45A1 VGNC VGNC:34880
Macaca mulatta SLC45A1 VGNC VGNC:77732
Felis catus SLC45A1 VGNC VGNC:65376
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