Tissue expression of ACER1 - Summary - The Human Protein Atlas

GENERAL INFORMATION
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

RNA tissue category

HPA:	Tissue enriched (skin)
GTEx:	Tissue enriched (skin)
FANTOM5:	Group enriched (esophagus, cervix, uterine, tonsil)

Protein evidence

Evidence at transcript level

DATA RELIABILITY
Reliability score	Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

N/A

Cerebral cortex

N/A

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

N/A

Thyroid gland

N/A

Parathyroid gland

N/A

Adrenal gland

N/A

Bone marrow & immune system

N/A

Appendix

N/A

Bone marrow

N/A

Lymph node

N/A

Tonsil

N/A

Spleen

N/A

Muscle tissues

N/A

Heart muscle

N/A

Skeletal muscle

N/A

Smooth muscle

N/A

Lung

N/A

Nasopharynx

N/A

Bronchus

N/A

Lung

N/A

Liver & gallbladder

N/A

Liver

N/A

Gallbladder

N/A

Pancreas

N/A

Pancreas

N/A

Gastrointestinal tract

N/A

Oral mucosa

N/A

Salivary gland

N/A

Esophagus

N/A

Stomach

N/A

Duodenum

N/A

Small intestine

N/A

Colon

N/A

Rectum

N/A

Kidney & urinary bladder

N/A

Kidney

N/A

Urinary bladder

N/A

Male tissues

N/A

Testis

N/A

Epididymis

N/A

Prostate

N/A

Seminal vesicle

N/A

Female tissues

N/A

Breast

N/A

Vagina

N/A

Cervix, uterine

N/A

Endometrium

N/A

Fallopian tube

N/A

Ovary

N/A

Placenta

N/A

Adipose & soft tissue

N/A

Adipose tissue

N/A

Soft tissue

N/A

Skin

N/A

Skin

N/A

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Tissue enriched (skin)
GTEx dataset Organ Expression Alphabetical RNA tissue category: Tissue enriched (skin)
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Group enriched (esophagus, cervix, uterine, tonsil)

GENE INFORMATION
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 83.38)
Entrez gene	125981
UniProt	Q8TDN7 (UniProt - Evidence at transcript level)
neXtProt	NX_Q8TDN7
Antibodypedia	ACER1 antibodies

PROTEIN BROWSER

ACER1-001

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
ACER1-001 ENSP00000301452 ENST00000301452	Q8TDN7 [Direct mapping] Alkaline ceramidase 1 Show all	Enzymes ENZYME proteins Hydrolases Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 8TM proteins predicted by MDM Show all	GO:0005783 [endoplasmic reticulum] GO:0005789 [endoplasmic reticulum membrane] GO:0006665 [sphingolipid metabolic process] GO:0006672 [ceramide metabolic process] GO:0008544 [epidermis development] GO:0010446 [response to alkaline pH] GO:0016021 [integral component of membrane] GO:0016811 [hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides] GO:0017040 [ceramidase activity] GO:0019216 [regulation of lipid metabolic process] GO:0030148 [sphingolipid biosynthetic process] GO:0030154 [cell differentiation] GO:0030216 [keratinocyte differentiation] GO:0044281 [small molecule metabolic process] GO:0046512 [sphingosine biosynthetic process] GO:0046514 [ceramide catabolic process] GO:0071277 [cellular response to calcium ion] GO:0071633 [dihydroceramidase activity] Show all	264 aa 31.1 kDa	No	8