1. Gene
  2. SLC36A4 - solute carrier family 36 member 4 Gene

SLC36A4 - solute carrier family 36 member 4 Gene

中文名称:溶质载体家族 36 成员 4

种属: Homo sapiens

同用名: PAT4

基因 ID: 120103 | 基因类型: protein coding

关于 SLC36A4

Cytogenetic location: 11q21 Genomic coordinates (GRCh38): 11:93,144,174-93,197,991 (from NCBI)

This gene has 7 transcripts (splice variants), 194 orthologues and 15 paralogues. Ubiquitous expression in brain (RPKM 3.7), bone marrow (RPKM 3.3) and 25 other tissues.

功能概要

基于与其他家族成员 (例如,SLC36A1;MIM 606561) 的序列相似性,SLC36A4 属于氨基酸转运蛋白的 SLC36 家族。 SLC36 蛋白包含约 500 个氨基酸并具有 9 至 11 个跨膜结构域。与其他 SLC36 家族成员不同,它们是质子偶联氨基酸转运蛋白,SLC36A4 是一种高亲和力/低容量非质子偶联氨基酸转运蛋白 (Pillai 和 Meredith,2011 [PubMed 21097500]) 。[OMIM 提供, 2011 年 2 月]

SLC36A4 belongs to the SLC36 family of amino acid transporters based on sequence similarity with Other family members (e.g., SLC36A1; MIM 606561). SLC36 proteins contain about 500 Amino acids and have 9 to 11 transmembrane domains. Unlike Other SLC36 family members, which are proton-coupled amino acid transporters, SLC36A4 is a high-affinity/low-capacity non-proton-coupled Amino acid Transporter (Pillai and Meredith, 2011 [PubMed 21097500]).[supplied by OMIM, Feb 2011]

SLC36A4 基因产物(2)

mRNA Protein Name
NM_001286139.2 NP_001273068.1 proton-coupled amino acid transporter 4 isoform 2
NM_152313.4 NP_689526.2 proton-coupled amino acid transporter 4 isoform 1
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables L-alanine transmembrane transporter activity IDA
IDA: 通过直接分析推断
21097500 GOA
enables L-proline transmembrane transporter activity EXP
EXP: 通过实验结果推断
21097500 GOA
enables L-proline transmembrane transporter activity IDA
IDA: 通过直接分析推断
21097500 GOA
enables L-tryptophan transmembrane transporter activity EXP
EXP: 通过实验结果推断
21097500 GOA
enables L-tryptophan transmembrane transporter activity IDA
IDA: 通过直接分析推断
21097500 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in L-alanine transport IDA
IDA: 通过直接分析推断
21097500 GOA
involved in proline transport IDA
IDA: 通过直接分析推断
21097500 GOA
involved in tryptophan transport IDA
IDA: 通过直接分析推断
21097500 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

SLC36A4 蛋白结构

Aa_trans

Aa_trans: Transmembrane amino acid transporter protein (58 - 471)

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

proton-coupled amino acid transporter 4

solute carrier family 36 (proton/amino acid symporter), member 4

关联疾病

疾病名称 别名
Iminoglycinuria

Iminoglycinuria, Digenic

IG

Epilepsy, Juvenile Absence 1

Epilepsy, Juvenile Absence, Susceptibility To, 1

EJA1

JAE1

Juvenile Absence Epilepsy 1

Susceptibility To Juvenile Absence Epilepsy 1

Epilepsy, Juvenile Absence, Susceptibility To, Type 1

Absence Epilepsy

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
Canis familiaris SLC36A4 VGNC VGNC:46385
Rattus norvegicus SLC36A4 RGD RGD:1311528
Bos taurus SLC36A4 VGNC VGNC:34841
Macaca mulatta SLC36A4 VGNC VGNC:101398
Mus musculus SLC36A4 MGD MGI:2442595
Felis catus SLC36A4 VGNC VGNC:65340