2. Gene
  3. DEGS1 - delta 4-desaturase, sphingolipid 1 Gene

DEGS1 - delta 4-desaturase, sphingolipid 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：δ 4-去饱和酶，鞘脂 1

种属: Homo sapiens

同用名: MLD; DEGS; DES1; Des-1; FADS7; HLD18; MIG15; DEGS-1

基因 ID: 8560 | 基因类型: protein coding

关于 DEGS1

Cytogenetic location: 1q42.11 Genomic coordinates (GRCh38): 1:224,183,240-224,193,441 (from NCBI)

This gene has 5 transcripts (splice variants), 226 orthologues, 1 paralogue and is associated with 2 phenotypes. Broad expression in skin (RPKM 186.9), placenta (RPKM 50.2) and 21 other tissues.

功能概要

该基因编码膜脂肪酸去饱和酶家族的一个成员，该家族负责将双键插入脂肪酸的特定位置。该蛋白质包含三个含有 His 的共有基序，这些基序是一组膜脂肪酸去饱和酶的特征。预计它是一种定位于内质网的多跨膜蛋白。该基因的过度表达抑制了 EGF 受体的生物合成，表明脂肪酸去饱和酶可能在调节 EGF 受体的生物合成过程中发挥作用。[RefSeq 提供，2010 年 3 月]

This gene encodes a member of the membrane fatty acid desaturase family which is responsible for inserting double bonds into specific positions in fatty acids. This protein contains three His-containing consensus motifs that are characteristic of a group of membrane fatty acid desaturases. It is predicted to be a multiple membrane-spanning protein localized to the endoplasmic reticulum. Overexpression of this gene inhibited biosynthesis of the EGF receptor, suggesting a possible role of a fatty acid desaturase in regulating biosynthetic processing of the EGF receptor. [provided by RefSeq, Mar 2010]

DEGS1 基因产物(3)

mRNA Protein Name
NM_001321541.2 NP_001308470.1 sphingolipid delta(4)-desaturase DES1 isoform 2
NM_001321542.2 NP_001308471.1 sphingolipid delta(4)-desaturase DES1 isoform 3
NM_003676.4 NP_003667.1 sphingolipid delta(4)-desaturase DES1 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 protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
enables retinol isomerase activity IDA
IDA: 通过直接分析推断
23143414 GOA
enables sphingolipid delta-4 desaturase activity IMP
IMP: 通过突变表型推断
30620337 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in myelin maintenance IMP
IMP: 通过突变表型推断
30620337 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

DEGS1 蛋白结构

Lipid_DES

Lipid_DES: Sphingolipid Delta4-desaturase (DES) (5 - 42)

FA_desaturase

FA_desaturase: Fatty acid desaturase (68 - 285)

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

sphingolipid delta(4)-desaturase DES1

cell migration-inducing gene 15 protein

DEGS1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
DEGS1 O15121 C4orf3 Homo sapiens Q8WVX3-2
Validated Y2H
32296183
种属内
DEGS1 O15121 SEMA4G Homo sapiens Q9NTN9-2
Validated Y2H
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

DEGS1 抗体

目录号 产品名 应用 反应物种
HY-P83490 MLD Antibody (YA3235) WB Human

关联疾病

疾病名称 别名
Leukodystrophy, Hypomyelinating, 18

HLD18
Hypomyelinating Leukodystrophy

Hld

Leukodystrophy, Hypomyelinating
Leukodystrophy

Leukodystrophies
Hereditary Sensory And Autonomic Neuropathy Type 1

Hereditary Sensory And Autonomic Neuropathy Type I

Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome

Hsan1e

Hsan1

Dnmt1-Related Dementia, Deafness, And Sensory Neuropathy

Hsn1e

Hsnie

Hereditary Sensory Neuropathy Type Ie

Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome

Hereditary Sensory And Autonomic Neuropathy Type Ie

Hereditary Sensory And Autonomic Neuropathy Type 1e

Hereditary Sensory Neuropathy With Hearing Loss And Dementia

Dnmt1-Complex Disorder

Hereditary Sensory And Autonomic Neuropathy Type 1 With Dementia And Hearing Loss

Hsn Ie

Hereditary Sensory Autonomic Neuropathy, Type 1

Hsan1- [Hereditary Sensory And Autonomic Neuropathy Type I]
Nephrotic Syndrome, Type 14

Sphingosine Phosphate Lyase Insufficiency Syndrome

Nephrotic Syndrome 14

NPHS14

Splis

Nephrotic Syndrome Type 14

Sgpl1 Deficiency

Steroid-Resistant Nephrotic Syndrome Type 14

Familial Steroid-Resistant Nephrotic Syndrome With Adrenal Insufficiency

Primary Adrenal Insufficiency-Steroid-Resistant Nephrotic Syndrome Due To Sgpl1 Deficiency
Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia
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 (4)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-153665 Deg-1 99.45% 否
HY-RS03682 DEGS1 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS21551 Degs1 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS28069 Degs1 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus DEGS1 RGD RGD:70917
Macaca mulatta DEGS1 VGNC VGNC:71620
Canis familiaris DEGS1 VGNC VGNC:49678
Bos taurus DEGS1 VGNC VGNC:27990
Mus musculus DEGS1 MGD MGI:1097711
Felis catus DEGS1 VGNC VGNC:61428
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