1. Gene
  2. SLC27A5 - solute carrier family 27 member 5 Gene

SLC27A5 - solute carrier family 27 member 5 Gene

中文名称:溶质载体家族 27 成员 5

种属: Homo sapiens

同用名: BAL; ACSB; BACS; FATP5; ACSVL6; FACVL3; FATP-5; VLACSR; VLCSH2; VLCS-H2

基因 ID: 10998 | 基因类型: protein coding

关于 SLC27A5

Cytogenetic location: 19q13.43 Genomic coordinates (GRCh38): 19:58,498,333-58,511,992 (from NCBI)

This gene has 8 transcripts (splice variants), 226 orthologues, 12 paralogues and is associated with 1 phenotype. Biased expression in liver (RPKM 126.6) and testis (RPKM 2.0).

功能概要

该基因编码的蛋白质是超长链酰基辅酶 A 合成酶 (VLCS) 的同工酶。它能够激活含有 24 个和 26 个碳原子的超长链脂肪酸。它在肝脏中表达并与内质网相关,但与过氧化物酶体无关。它的主要作用是在脂肪酸延伸或复杂脂质合成中而不是在降解中。该基因具有小鼠直系同源物。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene is an isozyme of very long-chain acyl-CoA synthetase (VLCS). It is capable of activating very long-chain fatty-acids containing 24- and 26-carbons. It is expressed in liver and associated with endoplasmic reticulum but not with peroxisomes. Its primary role is in fatty acid elongation or complex lipid synthesis rather than in degradation. This gene has a mouse ortholog. [provided by RefSeq, Jul 2008]

SLC27A5 基因产物(2)

mRNA Protein Name
NM_001321196.2 NP_001308125.1 long-chain fatty acid transport protein 5 isoform 2 precursor
NM_012254.3 NP_036386.1 long-chain fatty acid transport protein 5 isoform 1 precursor

SLC27A5 蛋白结构

AMP-binding

AMP-binding: AMP-binding enzyme (120 - 557)

AMP-binding_C

AMP-binding_C: AMP-binding enzyme C-terminal domain (566 - 642)

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

long-chain fatty acid transport protein 5

bile acyl-CoA synthetase

BA-CoA ligase

关联疾病

疾病名称 别名
Bile Acid Coa Ligase Deficiency And Defective Amidation
Cholestasis, Benign Recurrent Intrahepatic, 1

Benign Recurrent Intrahepatic Cholestasis

BRIC1

Summerskill Syndrome

Bric

Summerskill-Walshe-Tygstrup Syndrome

Cholestasis, Benign Recurrent Intrahepatic

Benign Recurrent Intrahepatic Cholestasis 1

Benign Recurrent Intrahepatic Cholestasis Type 1

Bric Type 1

Low Gamma-Gt Familial Intrahepatic Cholestasis

Recurrent Familial Intrahepatic Cholestasis

Cholestasis, Benign Recurrent Intrahepatic 1

Mild Atp8b1 Deficiency

Recurrent Familial Intrahepatic Cholestasis 1

Abcb11-Related Intrahepatic Cholestasis

Atp8b1-Related Intrahepatic Cholestasis

Cholestasis, Intrahepatic, Recurrent, Benign, Type 1

Progressive Intrahepatic Cholestasis

Cholestasis, Progressive Familial Intrahepatic 3

Bric - [Benign Recurrent Intrahepatic Cholestasis]

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
Rattus norvegicus SLC27A5 RGD RGD:708535
Felis catus SLC27A5 VGNC VGNC:65292
Mus musculus SLC27A5 MGD MGI:1347100
Macaca mulatta SLC27A5 VGNC VGNC:77442
Bos taurus SLC27A5 VGNC VGNC:34789