2. Gene
  3. ACER1 - alkaline ceramidase 1 Gene

ACER1 - alkaline ceramidase 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as ASAH3; ALKCDase1

Gene ID: 125981 | Gene type: protein coding

About 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).

Summary

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 Products(1)

mRNA Protein Name
NM_133492.3 NP_597999.1 alkaline ceramidase 1
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
17713573 GOA
enables N-acylsphingosine amidohydrolase activity IMP
IMP: Inferred from mutant phenotype
20207939 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Biological Process GO Annotation Evidence Reference Source
involved in cell differentiation IMP
IMP: Inferred from mutant phenotype
17713573 GOA
involved in cellular response to calcium ion IDA
IDA: Inferred from direct assay
17713573 GOA
involved in ceramide catabolic process IMP
IMP: Inferred from mutant phenotype
20207939 GOA
involved in epidermis development IEP
IEP: Inferred from expression pattern
16477081 GOA
involved in keratinocyte differentiation IEP
IEP: Inferred from expression pattern
16477081 GOA
involved in response to alkaline pH IDA
IDA: Inferred from direct assay
17713573 GOA
involved in sphingolipid biosynthetic process IDA
IDA: Inferred from direct assay
17713573 GOA
involved in sphingosine biosynthetic process IDA
IDA: Inferred from direct assay
17713573 GOA
involved in sphingosine biosynthetic process IMP
IMP: Inferred from mutant phenotype
20207939 GOA
Cellular Component GO Annotation Evidence Reference Source
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
17713573 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

ACER1 Protein Structure

Ceramidase

Ceramidase: Ceramidase (3 - 254)

  • 0
  • 100
  • 200
  • 264 a.a.
Protein Preferred Names Protein Names

alkaline ceramidase 1

CTB-180A7.3

Related Diseases

Diseases Alias
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
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 (12)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-105858 H-Ile-Trp-OH Inhibitor 98.03% Unkown
HY-114424A H-Ile-Pro-Pro-OH hydrochloride Inhibitor 98.48% Unkown
HY-P1032S2 Angiotensin I-13C6,15N (human, mouse, rat) TFA 99.76% Unkown
HY-114424 H-Ile-Pro-Pro-OH Inhibitor / Unkown
HY-N10860 5-O-beta-D-Glucopyranosylmyricanol Activator / Unkown
HY-N3470 Isomartynoside Inhibitor / Unkown
HY-P0095 Acetyl tetrapeptide-5 Inhibitor 98.05% Unkown
HY-P1032F Biotinyl-Angiotensin I (human, mouse, rat) / Unkown
HY-P4471 p-Hydroxyhippuryl-His-Leu / Unkown
HY-P4552 Hippuryl-Phe-Arg-OH Activator / Unkown
HY-P4654 H-Tyr-Lys-OH / Unkown
HY-RS00153 ACER1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source 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