2. Gene
  3. SLC27A3 - solute carrier family 27 member 3 Gene

SLC27A3 - solute carrier family 27 member 3 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 27 成员 3

种属: Homo sapiens

同用名: FATP3; ACSVL3; VLCS-3

基因 ID: 11000 | 基因类型: protein coding

关于 SLC27A3

Cytogenetic location: 1q21.3 Genomic coordinates (GRCh38): 1:153,775,407-153,780,157 (from NCBI)

This gene has 13 transcripts (splice variants), 1 gene allele, 202 orthologues and 12 paralogues. Ubiquitous expression in lung (RPKM 12.3), fat (RPKM 11.5) and 25 other tissues.

功能概要

该基因属于一个完整的膜蛋白家族，编码一种参与脂质代谢的蛋白质。该基因在源自诱导性多能干细胞的人类神经干细胞中的表达增加表明它在早期大脑发育中起着重要作用。该基因中自然发生的突变与自闭症谱系障碍有关。可变剪接导致多个转录本变体。[RefSeq 提供，2017 年 2 月]

This gene belongs to a family of integral membrane proteins and encodes a protein that is involved in lipid metabolism. The increased expression of this gene in human neural stem cells derived from induced pluripotent stem cells suggests that it plays an important role in early brain development. Naturally occurring mutations in this gene are associated with autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]

SLC27A3 基因产物(2)

mRNA Protein Name
NM_001317929.4 NP_001304858.3 long-chain fatty acid transport protein 3 isoform 2 precursor
NM_024330.4 NP_077306.3 long-chain fatty acid transport protein 3 isoform 1 precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables long-chain fatty acid-CoA ligase activity IDA
IDA: 通过直接分析推断
23936004 GOA
enables very long-chain fatty acid-CoA ligase activity IDA
IDA: 通过直接分析推断
23936004 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in fatty acid transport IMP
IMP: 通过突变表型推断
32521232 GOA
involved in long-chain fatty acid metabolic process IDA
IDA: 通过直接分析推断
23936004 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrion IDA
IDA: 通过直接分析推断
23936004 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

SLC27A3 蛋白结构

AMP-binding

AMP-binding: AMP-binding enzyme (211 - 597)

AMP-binding_C

AMP-binding_C: AMP-binding enzyme C-terminal domain (606 - 682)

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

long-chain fatty acid transport protein 3

arachidonate--CoA ligase

关联疾病

疾病名称 别名
Gand Syndrome

Mrd18

GAND

Mental Retardation, Autosomal Dominant 18

Autosomal Dominant Non-Syndromic Intellectual Disability 18

Autosomal Dominant Intellectual Developmental Disorder 18

Autosomal Dominant Mental Retardation 18
Hairy Tongue

Overgrowth Of Filiform Papillae

Tongue, Hairy
Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic
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-RS13146 SLC27A3 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 SLC27A3 RGD RGD:1310605
Canis familiaris SLC27A3 VGNC VGNC:46331
Felis catus SLC27A3 VGNC VGNC:65290
Mus musculus SLC27A3 MGD MGI:1347358
Bos taurus SLC27A3 VGNC VGNC:34787
Macaca mulatta SLC27A3 VGNC VGNC:77440
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