ACER1

Protein-coding gene in the species Homo sapiens
ACER1
Identifiers
AliasesACER1, ALKCDase1, ASAH3, alkaline ceramidase 1
External IDsOMIM: 613491 MGI: 2181962 HomoloGene: 15853 GeneCards: ACER1
Gene location (Human)
Chromosome 19 (human)
Chr.Chromosome 19 (human)[1]
Chromosome 19 (human)
Genomic location for ACER1
Genomic location for ACER1
Band19p13.3Start6,306,142 bp[1]
End6,333,612 bp[1]
Gene location (Mouse)
Chromosome 17 (mouse)
Chr.Chromosome 17 (mouse)[2]
Chromosome 17 (mouse)
Genomic location for ACER1
Genomic location for ACER1
Band17|17 DStart57,260,490 bp[2]
End57,289,126 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • skin of abdomen

  • vulva

  • human penis

  • nipple

  • oral cavity

  • vagina

  • lymph node

  • blood

  • thymus

  • right lobe of liver
Top expressed in
  • lip

  • condyle

  • skin of back

  • epithelium of stomach

  • left colon

  • epidermis

  • skin of abdomen

  • Paneth cell

  • hair follicle

  • fossa
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • dihydroceramidase activity
  • hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides
  • hydrolase activity
  • N-acylsphingosine amidohydrolase activity
  • ceramidase activity
  • metal ion binding
Cellular component
  • membrane
  • integral component of membrane
  • endoplasmic reticulum membrane
  • endoplasmic reticulum
Biological process
  • cellular response to calcium ion
  • regulation of lipid metabolic process
  • cell differentiation
  • sphingosine biosynthetic process
  • sphingolipid biosynthetic process
  • response to alkaline pH
  • keratinocyte differentiation
  • ceramide metabolic process
  • epidermis development
  • lipid metabolism
  • ceramide catabolic process
  • sphingolipid metabolic process
  • regulation of water loss via skin
  • sebaceous gland development
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

125981

171168

Ensembl

ENSG00000167769

ENSMUSG00000045019

UniProt

Q8TDN7

Q8R4X1

RefSeq (mRNA)

NM_133492

NM_175731

RefSeq (protein)

NP_597999

NP_783858

Location (UCSC)Chr 19: 6.31 – 6.33 MbChr 17: 57.26 – 57.29 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Alkaline ceramidase 1 also known as ACER1 is a ceramidase enzyme which in humans is encoded by the ACER1 gene.[5]

Function

ACER1 mediates cellular differentiation by controlling the generation of sphingosine (SPH) and sphingosine-1-phosphate (S1P).[5]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000167769 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000045019 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b Mao C, Xu R, Szulc ZM, Bielawski J, Becker KP, Bielawska A, Galadari SH, Hu W, Obeid LM (Aug 2003). "Cloning and characterization of a mouse endoplasmic reticulum alkaline ceramidase: an enzyme that preferentially regulates metabolism of very long chain ceramides". The Journal of Biological Chemistry. 278 (33): 31184–91. doi:10.1074/jbc.M303875200. PMID 12783875.

External links

Further reading

  • Sun W, Xu R, Hu W, Jin J, Crellin HA, Bielawski J, Szulc ZM, Thiers BH, Obeid LM, Mao C (Feb 2008). "Upregulation of the human alkaline ceramidase 1 and acid ceramidase mediates calcium-induced differentiation of epidermal keratinocytes". The Journal of Investigative Dermatology. 128 (2): 389–97. doi:10.1038/sj.jid.5701025. PMID 17713573.
  • Toulza E, Mattiuzzo NR, Galliano MF, Jonca N, Dossat C, Jacob D, de Daruvar A, Wincker P, Serre G, Guerrin M (2007). "Large-scale identification of human genes implicated in epidermal barrier function". Genome Biology. 8 (6): R107. doi:10.1186/gb-2007-8-6-r107. PMC 2394760. PMID 17562024.
  • Ito M, Okino N, Tani M, Mitsutake S, Mori K (Mar 2002). "[Molecular evolution of neutral ceramidase: signalling molecule and virulence factor]". Tanpakushitsu Kakusan Koso. Protein, Nucleic Acid, Enzyme. 47 (4 Suppl): 455–62. PMID 11915342.
  • Houben E, Holleran WM, Yaginuma T, Mao C, Obeid LM, Rogiers V, Takagi Y, Elias PM, Uchida Y (May 2006). "Differentiation-associated expression of ceramidase isoforms in cultured keratinocytes and epidermis". Journal of Lipid Research. 47 (5): 1063–70. doi:10.1194/jlr.M600001-JLR200. PMID 16477081.


Stub icon

This article on a gene on human chromosome 19 is a stub. You can help Wikipedia by expanding it.

  • v
  • t
  • e