1. Gene
  2. SLC36A1 - solute carrier family 36 member 1 Gene

SLC36A1 - solute carrier family 36 member 1 Gene

中文名称:溶质载体家族 36 成员 1

种属: Homo sapiens

同用名: Dct1; PAT1; LYAAT1; TRAMD3

基因 ID: 206358 | 基因类型: protein coding

关于 SLC36A1

Cytogenetic location: 5q33.1 Genomic coordinates (GRCh38): 5:151,344,596-151,556,085 (from NCBI)

This gene has 11 transcripts (splice variants), 249 orthologues and 15 paralogues. Broad expression in duodenum (RPKM 7.4), small intestine (RPKM 6.6) and 20 other tissues.

功能概要

该基因编码真核生物特异性氨基酸/生长素通透酶 (AAAP) 1 转运蛋白家族的成员。编码的蛋白质起质子依赖性小氨基酸转运蛋白的作用。该基因与染色体 5q33.1 上的相关家族成员聚集在一起。可变剪接导致多个转录本变体。[RefSeq 提供,2015 年 4 月]

This gene encodes a member of the eukaryote-specific amino acid/Auxin permease (AAAP) 1 transporter family. The encoded protein functions as a proton-dependent, small amino acid transporter. This gene is clustered with related family members on chromosome 5q33.1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

SLC36A1 基因产物(4)

mRNA Protein Name
NM_001308150.2 NP_001295079.1 proton-coupled amino acid transporter 1 isoform b
NM_001308151.2 NP_001295080.1 proton-coupled amino acid transporter 1 isoform c
NM_001349740.2 NP_001336669.1 proton-coupled amino acid transporter 1 isoform d
NM_078483.4 NP_510968.2 proton-coupled amino acid transporter 1 isoform a

SLC36A1 蛋白结构

Aa_trans

Aa_trans: Transmembrane amino acid transporter protein (46 - 454)

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

proton-coupled amino acid transporter 1

lysosomal amino acid transporter 1

关联疾病

疾病名称 别名
Iminoglycinuria

Iminoglycinuria, Digenic

IG

Hyperglycinuria

Glycinuria With Or Without Oxalate Urolithiasis

Glycinuria With Or Without Oxalate Nephrolithiasis

Iminoglycinuria Type Ii

HG

Hartnup Disorder

Hartnup Disease

HND

Neutral 1 Amino Acid Transport Defect

Neutral Amino Acid Transport Defect

Deficiency Of Tryptophan Oxygenase

Hartnup'S Disease

Aminoaciduria, Hartnup Type

Disorder Of Neutral Amino Acid Transport

Digenic Disease
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 SLC36A1 VGNC VGNC:102322
Canis familiaris SLC36A1 VGNC VGNC:46382
Macaca mulatta SLC36A1 VGNC VGNC:77509
Mus musculus SLC36A1 MGD MGI:2445299
Bos taurus SLC36A1 VGNC VGNC:34838
Rattus norvegicus SLC36A1 RGD RGD:619801