2. Gene
  3. ACER1 - alkaline ceramidase 1 Gene

ACER1 - alkaline ceramidase 1 Gene

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

中文名称：碱性神经酰胺酶 1

种属: Homo sapiens

同用名: ASAH3; ALKCDase1

基因 ID: 125981 | 基因类型: protein coding

关于 ACER1

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:6,306,142-6,360,368 (from NCBI)

This gene has 1 transcript (splice variant), 188 orthologues and 2 paralogues. Biased expression in skin (RPKM 20.7) and esophagus (RPKM 4.2).

功能概要

神经酰胺是在表皮分化过程中合成的，并在角质层的间隙内积累，它们代表了表皮渗透屏障的关键成分。过量的细胞神经酰胺可以触发抗有丝分裂信号并诱导细胞凋亡，神经酰胺代谢物鞘氨醇和鞘氨醇-1-磷酸 (S1P) 是重要的生物调节分子。有核细胞层中的神经酰胺水解调节角质形成细胞增殖和凋亡以响应外部压力。神经酰胺水解也发生在角质层，释放出作为内源性抗菌剂的游离鞘氨醇碱。 ACER1 在表皮中高度表达并催化超长链神经酰胺水解产生鞘氨醇 (Houben 等人，2006 [PubMed 16477081]；Sun 等人，2008 [PubMed 17713573]) 。[OMIM 提供，2010 年 7 月]

Ceramides are synthesized during epidermal differentiation and accumulate within the interstices of the stratum corneum, where they represent critical components of the epidermal permeability barrier. Excess cellular ceramide can trigger antimitogenic signals and induce Apoptosis, and the ceramide metabolites sphingosine and sphingosine-1-phosphate (S1P) are important bioregulatory molecules. Ceramide hydrolysis in the nucleated cell layers regulates keratinocyte proliferation and Apoptosis in response to external stress. Ceramide hydrolysis also occurs at the stratum corneum, releasing free sphingoid base that functions as an endogenous antimicrobial agent. ACER1 is highly expressed in epidermis and catalyzes the hydrolysis of very long chain ceramides to generate sphingosine (Houben et al., 2006 [PubMed 16477081]; Sun et al., 2008 [PubMed 17713573]).[supplied by OMIM, Jul 2010]

ACER1 基因产物(1)

mRNA Protein Name
NM_133492.3 NP_597999.1 alkaline ceramidase 1
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 N-acylsphingosine amidohydrolase activity IDA
IDA: 通过直接分析推断
17713573 GOA
enables N-acylsphingosine amidohydrolase activity IMP
IMP: 通过突变表型推断
20207939 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
involved in cell differentiation IMP
IMP: 通过突变表型推断
17713573 GOA
involved in cellular response to calcium ion IDA
IDA: 通过直接分析推断
17713573 GOA
involved in ceramide catabolic process IMP
IMP: 通过突变表型推断
20207939 GOA
involved in epidermis development IEP
IEP: 通过表达模式推断
16477081 GOA
involved in keratinocyte differentiation IEP
IEP: 通过表达模式推断
16477081 GOA
involved in response to alkaline pH IDA
IDA: 通过直接分析推断
17713573 GOA
involved in sphingolipid biosynthetic process IDA
IDA: 通过直接分析推断
17713573 GOA
involved in sphingosine biosynthetic process IDA
IDA: 通过直接分析推断
17713573 GOA
involved in sphingosine biosynthetic process IMP
IMP: 通过突变表型推断
20207939 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
17713573 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

ACER1 蛋白结构

Ceramidase

Ceramidase: Ceramidase (3 - 254)

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

alkaline ceramidase 1

CTB-180A7.3

关联疾病

疾病名称 别名
Farber Lipogranulomatosis

Farber Disease

Acid Ceramidase Deficiency

Ceramidase Deficiency

Ac Deficiency

N-Laurylsphingosine Deacylase Deficiency

Farber'S Disease

FRBRL

Farber'S Lipogranulomatosis

Acylsphingosine Deacylase Deficiency

Farber-Uzman Syndrome

Acy
Dermatitis, Atopic, 2

Atopic Dermatitis 2

ATOD2

Dermatitis, Atopic, Susceptibility To, 2

Dermatitis, Atopic, 2, Susceptibility To

Dermatitis, Atopic 2

Dermatitis Atopic 2

Atopic Eczema

Dermatitis, Atopic, Type 2

Dermatitis, Atopic
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy

Jankovic-Rivera Syndrome

SMAPME

Sma-Pme

Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome

Hereditary Myoclonus-Progressive Distal Muscular Atrophy Syndrome

Hereditary Myoclonus With Progressive Distal Muscular Atrophy

Jankovic Rivera Syndrome

Myoclonus, Hereditary, With Progressive Distal Muscular Atrophy

Myoclonus Hereditary Progressive Distal Muscular Atrophy

Atrophy, Muscular, Spinal, With Progressive Myoclonic Epilepsy
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]
Intracranial Berry Aneurysm

Familial Aneurysmal Subarachnoid Hemorrhage

Familial Berry Aneurysm

Familial Intracranial Saccular Aneurysm

Saccular Cerebral Aneurysm

Aneurysm, Intracranial Berry

Aneurysmal Subarachnoid Hemorrhage

Aneurysm, Intracranial Berry, 1
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 (10)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-114424A H-Ile-Pro-Pro-OH hydrochloride Inhibitor 98.48% 否
HY-N10860 5-O-beta-D-Glucopyranosylmyricanol / 否
HY-N3470 Isomartynoside Inhibitor / 否
HY-P0095 Acetyl tetrapeptide-5 Inhibitor 98.05% 否
HY-P1032F Biotinyl-Angiotensin I (human, mouse, rat) / 否
HY-P4471 p-Hydroxyhippuryl-His-Leu / 否
HY-P4654 H-Tyr-Lys-OH / 否
HY-RS00153 ACER1 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-165277 ε-Biotinamidocaproyl-β-alanyl-β-alanyl-lisinopril Inhibitor / 否
HY-114424 H-Ile-Pro-Pro-OH Inhibitor / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus ACER1 VGNC VGNC:25536
Rattus norvegicus ACER1 RGD RGD:1588582
Canis familiaris ACER1 VGNC VGNC:37504
Macaca mulatta ACER1 VGNC VGNC:69460
Mus musculus ACER1 MGD MGI:2181962
Felis catus ACER1 VGNC VGNC:101993
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