ACER3 - alkaline ceramidase 3 Gene

Homo sapiens

Also known as APHC; PHCA; PLDECO

Gene ID: 55331 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00155	ACER3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

Name
Email *

	Sorry, but the email address you supplied was invalid.