ACER3 - alkaline ceramidase 3 Gene

Also Known as APHC; PHCA; PLDECO

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55331

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables N-acylsphingosine amidohydrolase activity	IDA IDA: Inferred from direct assay	11356846	GOA
enables N-acylsphingosine amidohydrolase activity	IMP IMP: Inferred from mutant phenotype	20207939	GOA
enables calcium ion binding	IDA IDA: Inferred from direct assay	30575723	GOA
enables zinc ion binding	IDA IDA: Inferred from direct assay	30575723	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in ceramide catabolic process	IDA IDA: Inferred from direct assay	30575723	GOA
involved in ceramide catabolic process	IMP IMP: Inferred from mutant phenotype	20207939	GOA
involved in myelination	IMP IMP: Inferred from mutant phenotype	26792856	GOA
involved in phytosphingosine biosynthetic process	IDA IDA: Inferred from direct assay	11356846	GOA
involved in positive regulation of cell population proliferation	IMP IMP: Inferred from mutant phenotype	20068046	GOA
involved in regulation of programmed cell death	IDA IDA: Inferred from direct assay	20068046	GOA
involved in sphingosine biosynthetic process	IDA IDA: Inferred from direct assay	20068046	GOA
involved in sphingosine biosynthetic process	IMP IMP: Inferred from mutant phenotype	20207939	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Golgi membrane	IDA IDA: Inferred from direct assay	11356846	GOA
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	11356846	GOA
located in membrane	IDA IDA: Inferred from direct assay	30575723	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ACER3 Protein Structure

Ceramidase

0
100
200
267 a.a.

Protein Preferred Names	Protein Names
alkaline ceramidase 3	alkCDase 3

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00155	ACER3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20358	Acer3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26867	Acer3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	ACER3	NCBI