2. Gene
  3. ACER3 - alkaline ceramidase 3 Gene

ACER3 - alkaline ceramidase 3 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 3

种属: Homo sapiens

同用名: APHC; PHCA; PLDECO

基因 ID: 55331 | 基因类型: protein coding

关于 ACER3

Cytogenetic location: 11q13.5 Genomic coordinates (GRCh38): 11:76,860,918-77,026,797 (from NCBI)

This gene has 35 transcripts (splice variants), 199 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in fat (RPKM 8.3), brain (RPKM 5.5) and 24 other tissues.

功能概要

启用 N-酰基鞘氨醇酰胺水解酶活性和金属离子结合活性。参与多个过程，包括髓鞘形成；细胞群增殖的正向调节；和鞘脂代谢过程。是高尔基体膜的组成部分和内质网膜的组成部分。肝细胞癌和非酒精性脂肪性肝炎的生物标志物。 [由基因组资源联盟提供，2022 年 4 月]

Enables N-acylsphingosine amidohydrolase activity and metal ion binding activity. Involved in several processes, including myelination; positive regulation of cell population proliferation; and sphingolipid metabolic process. Is integral component of Golgi membrane and integral component of endoplasmic reticulum membrane. Biomarker of hepatocellular carcinoma and non-alcoholic steatohepatitis. [provided by Alliance of Genome Resources, Apr 2022]

ACER3 基因产物(4)

mRNA Protein Name
NM_001300953.2 NP_001287882.1 alkaline ceramidase 3 isoform b
NM_001300954.2 NP_001287883.1 alkaline ceramidase 3 isoform c
NM_001300955.2 NP_001287884.1 alkaline ceramidase 3 isoform c
NM_018367.7 NP_060837.3 alkaline ceramidase 3 isoform a
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
11356846 GOA
enables N-acylsphingosine amidohydrolase activity IMP
IMP: 通过突变表型推断
20207939 GOA
enables calcium ion binding IDA
IDA: 通过直接分析推断
30575723 GOA
enables zinc ion binding IDA
IDA: 通过直接分析推断
30575723 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in ceramide catabolic process IDA
IDA: 通过直接分析推断
30575723 GOA
involved in ceramide catabolic process IMP
IMP: 通过突变表型推断
20207939 GOA
involved in myelination IMP
IMP: 通过突变表型推断
26792856 GOA
involved in phytosphingosine biosynthetic process IDA
IDA: 通过直接分析推断
11356846 GOA
involved in positive regulation of cell population proliferation IMP
IMP: 通过突变表型推断
20068046 GOA
involved in regulation of programmed cell death IDA
IDA: 通过直接分析推断
20068046 GOA
involved in sphingosine biosynthetic process IDA
IDA: 通过直接分析推断
20068046 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 Golgi membrane IDA
IDA: 通过直接分析推断
11356846 GOA
located in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
11356846 GOA
located in membrane IDA
IDA: 通过直接分析推断
30575723 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

ACER3 蛋白结构

Ceramidase

Ceramidase: Ceramidase (8 - 257)

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

alkaline ceramidase 3

alkCDase 3

关联疾病

疾病名称 别名
Leukodystrophy, Progressive, Early Childhood-Onset

Alkaline Ceramidase 3 Deficiency

PLDECO

Acer3-Related Early Childhood-Onset Progressive Leukodystrophy

Leukodystrophy Due To Alkaline Ceramidase 3 Deficiency
Non-Alcoholic Steatohepatitis

Nonalcoholic Steatohepatitis

Nash

Nash - [Non-Alcoholic Steatohepatitis]

Non-Alcoholic Steatohepatosis
Neurogenic Bladder

Neurogenic Dysfunction Of The Urinary Bladder

Neurogenic Urinary Bladder Disorder

Neuropathic Bladder

Bladder Neurogenic

Urinary Bladder, Neurogenic

Neurogenic Urinary Bladder
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
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
Leukodystrophy

Leukodystrophies
Partial Fetal Alcohol Syndrome
Spastic Paraplegia 46, Autosomal Recessive

SPG46

Hereditary Spastic Paraplegia 46

Autosomal Recessive Spastic Paraplegia Type 46

Autosomal Recessive Spastic Paraplegia 46

Paraplegia, Spastic, Type 46, Autosomal Recessive
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
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]
Syndromic X-Linked Intellectual Disability Siderius Type

Mrxssd

Siderius-Hamel Syndrome

Siderius X-Linked Mental Retardation Syndrome
Alcohol-Related Birth Defects

Arbd

Alcohol-Related Birth Defect

Alcohol Related Birth Defect

Fetal Alcohol Syndrome
Nemaline Myopathy 2

NEM2

Nemaline Myopathy 2, Autosomal Recessive

Nemaline Myopathy, Type 2

Neb-Related Nemaline Myopathy

Myopathy, Nemaline, Type 2
Hepatocellular Carcinoma

Liver Cancer

Primary Liver Cancer

HCC

Hepatoma

Malignant Neoplasm Of Liver

Liver Neoplasms

Cancer, Hepatocellular

Liver Cell Carcinoma

Lcc

Hepatoblastoma, Somatic

Hepatic Cancer

Primary Malignant Neoplasm Of Liver

Rare Tumor Of Liver And Intrahepatic Biliary Tract

Hepatocellular Carcinoma, Somatic

Hepatocellular Carcinoma, Childhood Type, Somatic

Hepatocellular Cancer, Somatic

Ca Liver - Primary

Hepatic Neoplasm

Malignant Hepato-Biliary Neoplasm

Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary

Malignant Neoplasm Of Liver, Primary

Malignant Tumor Of Liver

Neoplasm Of Liver

Non-Resectable Primary Hepatic Malignant Neoplasm

Resectable Malignant Neoplasm Of Liver

Resectable Malignant Neoplasm Of The Liver

Primary Liver Carcinoma

Primary Malignant Liver Neoplasm

Primary Cancer Of Liver

Primary Tumor Of The Liver

Rare Tumor Of Liver And Ibt

Hepatocellular Cancer

Neoplasm Of The Liver

Carcinoma, Hepatocellular

Hepatomas

Liver Neoplasm

Liver Carcinoma

Liver And Intrahepatic Biliary Tract Carcinoma

Malignant Hepatobiliary Neoplasm

Adult Primary Hepatocellular Carcinoma

Hepatoblastoma

Carcinoma Of Liver

Malignant Liver Tumour

Malignant Hepatic Tumour
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 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS00155 ACER3 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus ACER3 VGNC VGNC:59508
Rattus norvegicus ACER3 RGD RGD:1561254
Macaca mulatta ACER3 VGNC VGNC:69415
Canis familiaris ACER3 VGNC VGNC:37506
Bos taurus ACER3 VGNC VGNC:25538
Mus musculus ACER3 MGD MGI:1913440
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