ACER1

ACER1
Identifiers
Aliases	ACER1, ALKCDase1, ASAH3, alkaline ceramidase 1
External IDs	OMIM: 613491 MGI: 2181962 HomoloGene: 15853 GeneCards: ACER1
Gene location (Human)
Chr.	Chromosome 19 (human)
End	6,333,612 bp
Gene location (Mouse)
Chr.	Chromosome 17 (mouse)
End	57,289,126 bp
RNA expression pattern
	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
	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
	125981
	171168
	ENSG00000167769
	ENSMUSG00000045019
	Q8TDN7
	Q8R4X1
	NM_133492
	NM_175731
	NP_597999
	NP_783858
	Wikidata
View/Edit Human	View/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]

Model organisms

*Acer1* knockout mouse phenotype
Characteristic	Phenotype
All data available at.^[6]^[7]^[8]
Peripheral blood leukocytes 6 Weeks	Normal
Haematology 6 Weeks	Normal
Insulin	Normal
Homozygous viability at P14	Normal
Homozygous Fertility	Normal
General Observations	Abnormal
Body weight	Normal
Neurological assessment	Normal
Grip strength	Normal
Dysmorphology	Abnormal
Indirect calorimetry	Abnormal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Haematology 16 Weeks	Normal
Peripheral blood leukocytes 16 Weeks	Normal
Heart weight	Normal
Salmonella infection	Normal
Cytotoxic T Cell Function	Normal
Spleen Immunophenotyping	Normal
Mesenteric Lymph Node Immunophenotyping	Normal
Anti-nuclear Antibody Assay	Normal
Influenza Challenge	Normal

Model organisms have been used in the study of ACER1 function. A conditional knockout mouse line called Acer1^{tm1a(EUCOMM)Wtsi} was generated at the Wellcome Trust Sanger Institute.^[9] Male and female animals underwent a standardized phenotypic screen^[6] to determine the effects of deletion.^[10]^[11]^[12]^[13] Additional screens performed: - In-depth immunological phenotyping^[7] - in-depth bone and cartilage phenotyping^[8]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000167769 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000045019 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^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.
^ ^a ^b "International Mouse Phenotyping Consortium".
^ ^a ^b "Infection and Immunity Immunophenotyping (3i) Consortium".
^ ^a ^b "OBCD Consortium".
^ Gerdin AK (Sep 2010). "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice". Acta Ophthalmologica. 88 (Supplement s246): 4142. doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.
^ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
^ Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
^ Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. S2CID 18872015.
^ White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC, Sanger Institute Mouse Genetics Project, Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP (2013). "Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes". Cell. 154 (2): 452–64. doi:10.1016/j.cell.2013.06.022. PMC 3717207. PMID 23870131.

External links

Human ACER1 genome location and ACER1 gene details page in the UCSC Genome Browser.

Function

Model organisms

References

External links

Further reading