2. Gene
  3. CERS5 - ceramide synthase 5 Gene

CERS5 - ceramide synthase 5 Gene

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

中文名称：神经酰胺合成酶 5

种属: Homo sapiens

同用名: Trh4; LASS5

基因 ID: 91012 | 基因类型: protein coding

关于 CERS5

Cytogenetic location: 12q13.12 Genomic coordinates (GRCh38): 12:50,129,289-50,167,369 (from NCBI)

This gene has 28 transcripts (splice variants), 255 orthologues and 5 paralogues. Ubiquitous expression in endometrium (RPKM 6.0), placenta (RPKM 5.6) and 25 other tissues.

功能概要

该基因编码的蛋白质属于 TLC (TRAM、LAG1 和 CLN8 同源域) 蛋白质家族。编码的蛋白质在神经酰胺的合成中发挥作用，神经酰胺是一种参与多种细胞信号通路的脂质分子。交替剪接导致多个转录本变体。[RefSeq 提供，2013 年 8 月]

This gene encodes a protein that belongs to the TLC (TRAM, LAG1 and CLN8 homology domains) family of proteins. The encoded protein functions in the synthesis of ceramide, a lipid molecule that is involved in a several cellular signaling pathways. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

CERS5 基因产物(7)

mRNA Protein Name
NM_001281731.2 NP_001268660.1 ceramide synthase 5 isoform 2
NM_001331069.3 NP_001317998.1 ceramide synthase 5 isoform 3
NM_001331070.3 NP_001317999.1 ceramide synthase 5 isoform 4
NM_001331071.3 NP_001318000.1 ceramide synthase 5 isoform 5
NM_001331072.3 NP_001318001.1 ceramide synthase 5 isoform 6
NM_001331073.3 NP_001318002.1 ceramide synthase 5 isoform 7
NM_147190.5 NP_671723.1 ceramide synthase 5 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 sphingosine N-acyltransferase activity IDA
IDA: 通过直接分析推断
16951403 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in ceramide biosynthetic process IDA
IDA: 通过直接分析推断
16951403 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

CERS5 蛋白结构

Homeobox

Homeobox: Homeobox domain (90 - 134)

TRAM_LAG1_CLN8

TRAM_LAG1_CLN8: TLC domain (140 - 333)

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

ceramide synthase 5

LAG1 homolog, ceramide synthase 5

关联疾病

疾病名称 别名
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]
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-146909S CER5-2’R-d9 ≥99.0% 否
HY-146942S CER5-2’S-d9 / 否
HY-RS02540 CERS5 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS02541 CERS6 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus CERS5 MGD MGI:1919199
Canis familiaris CERS5 VGNC VGNC:39151
Felis catus CERS5 VGNC VGNC:60795
Rattus norvegicus CERS5 RGD RGD:1311597
Macaca mulatta CERS5 VGNC VGNC:71078
Bos taurus CERS5 VGNC VGNC:27227
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