1. Gene
  2. SLC27A4 - solute carrier family 27 member 4 Gene

SLC27A4 - solute carrier family 27 member 4 Gene

中文名称:溶质载体家族 27 成员 4

种属: Homo sapiens

同用名: IPS; FATP4; ACSVL4

基因 ID: 10999 | 基因类型: protein coding

关于 SLC27A4

Cytogenetic location: 9q34.11 Genomic coordinates (GRCh38): 9:128,340,527-128,361,470 (from NCBI)

This gene has 2 transcripts (splice variants), 248 orthologues, 12 paralogues and is associated with 3 phenotypes. Broad expression in duodenum (RPKM 32.2), small intestine (RPKM 21.2) and 24 other tissues.

功能概要

该基因编码脂肪酸转运蛋白家族的一个成员,该蛋白参与长链脂肪酸跨质膜的转运。这种蛋白质在小肠成熟肠细胞的顶端以高水平表达,似乎是肠细胞中主要的脂肪酸转运体。临床研究表明该基因是胰岛素抵抗综合征的候选基因。该基因的突变与鱼鳞病早产综合症有关。[RefSeq 提供,2010 年 4 月]

This gene encodes a member of a family of fatty acid transport proteins, which are involved in translocation of long-chain fatty acids cross the plasma membrane. This protein is expressed at high levels on the apical side of mature enterocytes in the small intestine, and appears to be the principal fatty acid transporter in enterocytes. Clinical studies suggest this gene as a candidate gene for the Insulin resistance syndrome. Mutations in this gene have been associated with ichthyosis prematurity syndrome. [provided by RefSeq, Apr 2010]

SLC27A4 基因产物(1)

mRNA Protein Name
NM_005094.4 NP_005085.2 long-chain fatty acid transport protein 4
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 transmembrane transporter activity IMP
IMP: 通过突变表型推断
21395585 GOA
enables long-chain fatty acid-CoA ligase activity IDA
IDA: 通过直接分析推断
22022213 GOA
enables oleoyl-CoA ligase activity IDA
IDA: 通过直接分析推断
25603556 GOA
enables palmitoyl-CoA ligase activity IDA
IDA: 通过直接分析推断
25603556 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within activation of GTPase activity IDA
IDA: 通过直接分析推断
25603556 GOA
acts upstream of or within fatty acid metabolic process IDA
IDA: 通过直接分析推断
25603556 GOA
involved in fatty acid transport IMP
IMP: 通过突变表型推断
32521232 GOA
involved in lipid transport across blood-brain barrier IMP
IMP: 通过突变表型推断
21395585 GOA
involved in long-chain fatty acid import into cell IDA
IDA: 通过直接分析推断
22022213 GOA
involved in long-chain fatty acid metabolic process IDA
IDA: 通过直接分析推断
22022213 GOA
involved in long-chain fatty acid transport IMP
IMP: 通过突变表型推断
21395585 GOA
involved in negative regulation of insulin receptor signaling pathway IDA
IDA: 通过直接分析推断
25603556 GOA
involved in positive regulation of apoptotic process IDA
IDA: 通过直接分析推断
25603556 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
32521232 GOA
located in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
22022213 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

SLC27A4 蛋白结构

AMP-binding

AMP-binding: AMP-binding enzyme (80 - 511)

AMP-binding_C

AMP-binding_C: AMP-binding enzyme C-terminal domain (520 - 595)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 600
  • 643 a.a.
蛋白主名 其他名称

long-chain fatty acid transport protein 4

arachidonate--CoA ligase

重组 SLC27A4 蛋白

目录号 产品名 蛋白编号 纯度
HY-P77206 SLC27A4/FATP4 Protein, Human (HEK293, His) Q6P1M0-1 (Q483-L643) ≥95%

SLC27A4 抗体

目录号 产品名 应用 反应物种
HY-P82243 SLC27A4 Antibody (YA1988) WB, ICC/IF, IP Human

关联疾病

疾病名称 别名
Ichthyosis Prematurity Syndrome

IPS

Ichthyosis Congenita Iv

Ichthyosis-Prematurity Syndrome

Congenital Ichthyosis Type 4

Ichthyosis

Ichthyoses

Non-Syndromic Ichthyosis

Congenital Ichthyosis

Autosomal Recessive Congenital Ichthyosis

Lamellar Ichthyosis

Congenital Ichthyosiform Erythroderma

Li

Congenital Nonbullous Ichthyosiform Erythroderma

Arci

Congenital Lamellar Ichthyosis

Nonbullous Congenital Ichthyosiform Erythroderma

Cie

Congenital Non-Bullous Ichthyosiform Erythroderma

Erythrodermic Ichthyosis

Nbcie

Ncie

Non-Bullous Congenital Ichthyosiform Erythroderma

Collodion Baby

Ichthyosis, Lamellar

Non Bullous Congenital Ichthyosiform Erythroderma

Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form

Ichthyosiform Erythroderma, Congenital, Nonbullous, 1

Collodion Baby Syndrome

Ichthyoses, Lamellar

Nbie

Nonbullous Ichthyosiform Erythroderma

Classic Lamellar Ichthyosis

Ichthyosiform Erythroderma Nonbullous Congenital

Ichthyosiform Erythroderma Congenital

Ichthyosis, Congenital, Autosomal Recessive

Ichthyosiform Erythroderma, Congenital

Collodion Fetus

Non-Bullous Ichthyosiform Erythroderma

Lethal Restrictive Dermopathy

Hyperkeratosis-Contracture Syndrome

Tight Skin Contracture Syndrome

Tight Skin Contracture Syndrome, Lethal

Dermopathy, Restrictive, Lethal

Optic Disc Anomalies With Retinal And/Or Macular Dystrophy

Colobomatous Optic Disc-Macular Atrophy-Chorioretinopathy Syndrome

ODRMD

Optic Disk Anomalies With Retinal And/Or Macular Dystrophy

Ichthyosis, Congenital, Autosomal Recessive 1

Collodion Fetus

Autosomal Recessive Congenital Ichthyosis 1

ARCI1

Ichthyosis Congenita

Lamellar Exfoliation Of Newborn

Desquamation Of Newborn

Ichthyosis Congenita Ii

Shcb

Icr2

Bathing Suit Ichthyosis

Li1

Self-Healing Collodion Baby

Ichthyosis, Congenital, Autosomal Recessive 1, With Bathing Suit Distribution

Collodion Baby, Self-Healing

Ichthyosis, Lamellar, 1, Formerly

Li1, Formerly

Ichthyosis Lamellar 1

Lamellar Ichthyosis, Type 1

Bsi

Autosomal Recessive Congenital Ichthyosis 1 With Bathing Suit Distribution

Autosomal Recessive Congenital Ichthyosis Tgm1-Related

Lamellar Ichthyosis 1

Non-Erythrodermic Ichthyosis

Ichthyosis, Congenital, Autosomal Recessive, Type 1

Congenital Ichthyosis

Persistent Fetal Circulation Syndrome

Persistent Fetal Circulation

Fetal Circulation

Persistent Pulmonary Hypertension Of The Newborn

Congenital Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins

Persistent Foetal Circulation

Persistent Foetal Circulation Syndrome

Pfc - [Persistent Fetal Circulation] Syndrome

Pphn - [Persistent Pulmonary Hypertension Of The Newborn]

Newborn Pulmonary Hypertension

Primary Pulmonary Hypertension Of Newborn

Platelet Glycoprotein Iv Deficiency

Platelet-Type Bleeding Disorder 10

Bdplt10

Cd36 Deficiency

Bleeding Disorder, Platelet-Type, 10

PG4D

Bleeding Disorder Platelet-Type 10

Deficiency, Platelet Glycoprotein Iv

Ichthyosis, Congenital, Autosomal Recessive 4b

Harlequin Ichthyosis

Autosomal Recessive Congenital Ichthyosis 4b

Hi

Harlequin Fetus

ARCI4B

Ichthyosis Congenita, Harlequin Fetus Type

Harlequin Type Ichthyosis

'Harlequin Fetus'

Harlequin Type Ichthyosis Congenita

Harlequin Type Ichthyosis Fetalis

Harlequin Baby Syndrome

Ichthyosis Congenita, Harlequin Type

Ichthyosis Fetalis, Harlequin Type

Ichthyosis Congenita Harlequin Fetus Type

Ichthyosis, Harlequin

Ichthyosis, Congenital, Autosomal Recessive, Type 4b

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
Mus musculus SLC27A4 MGD MGI:1347347
Felis catus SLC27A4 VGNC VGNC:65291
Canis familiaris SLC27A4 VGNC VGNC:46332
Rattus norvegicus SLC27A4 RGD RGD:1307383
Bos taurus SLC27A4 VGNC VGNC:34788
Macaca mulatta SLC27A4 VGNC VGNC:77441
Others SLC27A4 NCBI