ACER1

GENERAL INFORMATION

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Gene name

ACER1

Gene description

Alkaline ceramidase 1

Protein class

Enzymes
Predicted membrane proteins

Predicted localization

Membrane

Number of transcripts

1
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Group enriched (esophagus, skin)
GTEx:Group enriched (skin)

Protein evidence

Evidence at transcript level

Protein localization

Normal tissues exhibited moderate cytoplasmic and membranous positivity. Airway epithelia, urinary bladder and placental trophoblasts showed strong positivity. Hepatocytes, lymphoid tissue and glial cells were weakly stained or negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA042506
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Group enriched (esophagus, skin)

Organ

Expression

GTEx dataset
RNA tissue category:  Group enriched (skin)

Organ

Expression



GENE INFORMATION

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Gene name

ACER1 (HGNC Symbol)

Synonyms

ASAH3

Description

Alkaline ceramidase 1 (HGNC Symbol)

Entrez gene 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]

Chromosome

19

Cytoband

p13.3

Chromosome location (bp)

6306142 - 6333629

Protein evidence

Evidence at transcript level (all genes)

Ensembl

ENSG00000167769 (version 78.38)

Entrez gene

125981

UniProt

Q8TDN7 (UniProt - Evidence at transcript level)

neXtProt

NX_Q8TDN7

Antibodypedia

ACER1 antibodies


PROTEIN BROWSER

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ENST00000301452
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ACER1-001 ENSP00000301452
ENST00000301452
Q8TDN7
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