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  2. SCD5 - stearoyl-CoA desaturase 5 Gene

SCD5 - stearoyl-CoA desaturase 5 Gene

中文名称:硬脂酰辅酶 A 去饱和酶 5

种属: Homo sapiens

同用名: SCD2; SCD4; ACOD4; FADS4; HSCD5; DFNA79

基因 ID: 79966 | 基因类型: protein coding

关于 SCD5

Cytogenetic location: 4q21.22 Genomic coordinates (GRCh38): 4:82,629,539-82,798,796 (from NCBI)

This gene has 2 transcripts (splice variants), 143 orthologues, 1 paralogue and is associated with 1 phenotype. Biased expression in brain (RPKM 129.6), adrenal (RPKM 62.7) and 5 other tissues.

功能概要

硬脂酰辅酶 A 去饱和酶 (SCD; EC 1.14.99.5) 是内质网的一种整合膜蛋白,可催化饱和脂肪酸形成单不饱和脂肪酸。 SCD 可能是能量代谢的关键调节因子,在肥胖和血脂异常中起作用。四种 SCD 亚型,Scd1 到 Scd4,已在小鼠中鉴定出来。相比之下,在人类中仅鉴定出 2 种 SCD 亚型,SCD1 (MIM 604031) 和 SCD5。 SCD1 与所有 4 种小鼠 SCD 亚型以及大鼠 Scd1 和 Scd2 共享约 85% 的氨基酸同一性。相比之下,SCD5 与啮齿动物 SCD 的同源性有限,并且似乎是灵长类动物独有的 (Wang 等人,2005 [PubMed 15907797]) 。[OMIM 提供,2008 年 3 月]

Stearoyl-CoA desaturase (SCD; EC 1.14.99.5) is an integral membrane protein of the endoplasmic reticulum that catalyzes the formation of monounsaturated fatty acids from saturated fatty acids. SCD may be a key regulator of energy metabolism with a role in obesity and dislipidemia. Four SCD isoforms, Scd1 through Scd4, have been identified in mouse. In contrast, only 2 SCD isoforms, SCD1 (MIM 604031) and SCD5, have been identified in human. SCD1 shares about 85% amino acid identity with all 4 mouse SCD isoforms, as well as with rat Scd1 and Scd2. In contrast, SCD5 shares limited homology with the rodent SCDs and appears to be unique to primates (Wang et al., 2005 [PubMed 15907797]).[supplied by OMIM, Mar 2008]

SCD5 基因产物(2)

mRNA Protein Name
NM_001037582.3 NP_001032671.2 stearoyl-CoA desaturase 5 isoform a
NM_024906.3 NP_079182.2 stearoyl-CoA desaturase 5 isoform b
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 oxidoreductase activity IDA
IDA: 通过直接分析推断
15907797 GOA
enables stearoyl-CoA 9-desaturase activity IDA
IDA: 通过直接分析推断
15907797 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in unsaturated fatty acid biosynthetic process IDA
IDA: 通过直接分析推断
15907797 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
15907797 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

SCD5 蛋白结构

FA_desaturase

FA_desaturase: Fatty acid desaturase (74 - 279)

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

stearoyl-CoA desaturase 5

acyl-CoA-desaturase 4

关联疾病

疾病名称 别名
Deafness, Autosomal Dominant 79

DFNA79

Deafness, Autosomal Dominant, 79

Chronic Maxillary Sinusitis

Chronic Antritis

Lipodystrophy, Congenital Generalized, Type 3

Congenital Generalized Lipodystrophy Type 3

CGL3

Bscl3

Berardinelli-Seip Congenital Lipodystrophy Type 3

Berardinelli-Seip Congenital Lipodystrophy, Type 3

Lipodystrophy, Berardinelli-Seip Congenital, Type 3

Type 3 Berardinelli-Seip Congenital Lipodystrophy

Congenital Generalized Lipodystrophy 3

Vas Deferens, Congenital Bilateral Aplasia Of

Congenital Bilateral Absence Of Vas Deferens

CBAVD

Cavd

Congenital Bilateral Aplasia Of Vas Deferens

Congenital Bilateral Absence Of The Vas Deferens

Congenital Bilateral Agenesis Of Vas Deferens

Absence Of Vas Deferens

Absent Vasa

Congenital Absence Of Vas Deferens

Congenital Aplasia Of Vas Deferens

Absent Vas Deferens

Vas Deferens, Congenital Bilateral Absence

Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency

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