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Set Analyses:

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ACER3 Gene

protein-coding GIFtS: 57
GCID: GC11P076571

Alkaline Ceramidase 3

(Previous names: phytoceramidase, alkaline)
(Previous symbol: PHCA)

See related diseases
at

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Alkaline Ceramidase 3¹ ²		Alkaline Dihydroceramidase SB89² ³
PHCA¹ ² ³		AlkCDase 3² ³
Alkaline Phytoceramidase¹ ² ³		APHC² ³
Phytoceramidase, Alkaline¹ ²		EC 3.5.1.-³
Alkaline CDase 3² ³		aPHC³

External Ids:	HGNC: 16066¹	Entrez Gene: 55331²	Ensembl: ENSG00000078124⁷	UniProtKB: Q9NUN7³

Export aliases for ACER3 gene to outside databases

Previous GC identifers: GC11P076250 GC11P072869

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ACER3 Gene:

ACER3 (alkaline ceramidase 3) is a protein-coding gene. Diseases associated with ACER3 include partial fetal alcohol syndrome, and lipogranulomatosis. GO annotations related to this gene include phytoceramidase activity.

UniProtKB/Swiss-Prot: ACER3_HUMAN, Q9NUN7

Function: Hydrolyzes only phytoceramide into phytosphingosine and free fatty acid. Does not have reverse activity

Gene Wiki entry for ACER3 Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000011.10 NT_167190.2 NC_018922.2

Regulatory elements:

Regulatory transcription factor binding sites in the ACER3 gene promoter:
STAT1 Pax-6 YY1 Evi-1 C/EBPalpha RORalpha1 Pax-3 c-Myb ZIC2/Zic2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ACER3 promoter sequence

Search Chromatin IP Primers for ACER3

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ACER3

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q13.5 Ensembl cytogenetic band: 11q13.5 HGNC cytogenetic band: 11q13.5

ACER3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACER3 gene location

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11P076571: view genomic region (about GC identifiers)

Start:	76,571,911 bp from pter	End:	76,737,841 bp from pter
Size:	165,931 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ACER3_HUMAN, Q9NUN7 (See protein sequence)

Recommended Name: Alkaline ceramidase 3

Size: 267 amino acids; 31552 Da

Secondary accessions: B2RC99

Alternative splicing: 2 isoforms: Q9NUN7-1 Q9NUN7-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ACER3: NX_Q9NUN7

Explore proteomics data for ACER3 at MOPED

Post-translational modifications:

Glycosylation² at Asn24

See ACER3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_060837.3

ENSEMBL proteins:

ENSP00000435733 ENSP00000434480 ENSP00000432109 ENSP00000432379 ENSP00000433368

ENSP00000435048 ENSP00000431149 ENSP00000436252 ENSP00000431504 ENSP00000278544

ENSP00000440916 ENSP00000440663

Reactome Protein details: Q9NUN7

ACER3 Human Recombinant Protein Products:

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ACER3 Assay Products:

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:

ACER: Alkaline ceramidase

1 InterPro protein domain:

IPR008901 Ceramidase

Graphical View of Domain Structure for InterPro Entry Q9NUN7

ProtoNet protein and cluster: Q9NUN7

2 Blocks protein domains:

IPB002222 Ribosomal protein S19/S15

IPB008901 Alkaline phytoceramidase

UniProtKB/Swiss-Prot: ACER3_HUMAN, Q9NUN7

Similarity: Belongs to the alkaline ceramidase family

ACER3 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: ACER3_HUMAN, Q9NUN7

Function: Hydrolyzes only phytoceramide into phytosphingosine and free fatty acid. Does not have reverse activity

Enzyme regulation: Activated by Ca(2+) and inhibited by Zn(2+)

Enzyme Number (IUBMB): EC 3.5.1.-¹

Gene Ontology (GO): 2 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016811	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides	--	--
GO:0070774	phytoceramidase activity	IDA	11356846

ACER3 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for ACER3:

Increased gamma-H2AX phosphory

Animal Models:

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ACER3

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ACER3

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ACER3

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ACER3

miRNA Products:		miRTarBase miRNAs that target ACER3: hsa-mir-30b-5p (MIRT046140)

		Block miRNA regulation of human, mouse, rat ACER3 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate ACER3 (see all 43):
		hsa-let-7d hsa-miR-4328 hsa-miR-3653 hsa-miR-578 hsa-let-7g hsa-miR-649 hsa-let-7a hsa-miR-298

		SwitchGear 3'UTR luciferase reporter plasmid: ACER3 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for ACER3
		Predesigned siRNA for gene silencing in human, mouse, rat ACER3

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for ACER3

Clone Products:		OriGene clones in human, mouse for ACER3 (see all 6) OriGene ORF clones in mouse, rat for ACER3 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: ACER3 (NM_018367)
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACER3

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

ACER3_HUMAN, Q9NUN7: Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane;

Multi-pass membrane protein

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
endoplasmic reticulum	5
golgi apparatus	5
plasma membrane	3
lysosome	2

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Gene Ontology (GO): 4 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005789	endoplasmic reticulum membrane	TAS	--
GO:0016021	integral component of membrane	--	--
GO:0030173	integral component of Golgi membrane	IDA	11356846
GO:0030176	integral component of endoplasmic reticulum membrane	IDA	11356846

ACER3 for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for ACER3 About

See pathways by source

SuperPath

Contained pathways About

Sphingolipid metabolism

	Sphingolipid metabolism	0.61			Sphingolipid de novo biosynthesis	0.46
	Sphingolipid metabolism	0.61

Metabolism

Metabolism

0.38

Metabolism of lipids and lipoproteins

0.37

Pathways by source See SuperPaths
Show all pathways

1 Reactome Pathway for ACER3

Sphingolipid de novo biosynthesis

1 Kegg Pathway (Kegg details for ACER3):

Sphingolipid metabolism

ACER3 for pathways About GeneDecksing

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for ACER3
Interactions:

Search GeneGlobe Interaction Network for ACER3

STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

Selected Interacting proteins for ACER3 (Q9NUN7³ ENSP00000278544⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 48)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
AGPAT1	Q99943³	I2D: score=1
ENSG00000206324	Q99943³	I2D: score=1
ENSG00000226467	Q99943³	I2D: score=1
ENSG00000227642	Q99943³	I2D: score=1
ENSG00000228892	Q99943³	I2D: score=1

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Gene Ontology (GO): Selected biological process terms (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006665	sphingolipid metabolic process	TAS	--
GO:0006672	ceramide metabolic process	IEA	--
GO:0008284	positive regulation of cell proliferation	IMP	--
GO:0030148	sphingolipid biosynthetic process	TAS	--
GO:0044281	small molecule metabolic process	TAS	--

ACER3 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for ACER3

2 HMDB Compounds for ACER3 About this table

Compound	Synonyms	CAS #	PubMed Ids
Dihydroceramide	N-Acylsphinganine (see all 2)	--	--
Sphinganine	2-amino-D-erythro-1,3-Octadecanediol (see all 13)	764-22-7	--

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for ACER3 gene:

NM_018367.5

Unigene Cluster for ACER3:

Alkaline ceramidase 3

Hs.23862 [show with all ESTs]

Unigene Representative Sequence: NM_018367

16 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000534206 ENST00000532485(uc009yum.1 uc001oxu.2 uc009yun.1 uc009yuo.1 uc010rsh.1 uc010rsi.1 uc010rsj.1)

ENST00000530182 ENST00000525194(uc009yul.1) ENST00000525861 ENST00000531461

ENST00000530334(uc010rsg.1) ENST00000526597 ENST00000533873 ENST00000531352

ENST00000278544 ENST00000527508 ENST00000525325 ENST00000530921 ENST00000538157

ENST00000544113

miRNA Products:		Block miRNA regulation of human, mouse, rat ACER3 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate ACER3 (see all 43):
		hsa-let-7d hsa-miR-4328 hsa-miR-3653 hsa-miR-578 hsa-let-7g hsa-miR-649 hsa-let-7a hsa-miR-298

		SwitchGear 3'UTR luciferase reporter plasmid: ACER3 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for ACER3
		Predesigned siRNA for gene silencing in human, mouse, rat ACER3

Clone Products:		OriGene clones in human, mouse for ACER3 (see all 6) OriGene ORF clones in mouse, rat for ACER3 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: ACER3 (NM_018367)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACER3
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACER3

Primer Products:		OriGene qPCR primer pairs and template standards for ACER3 OriGene qSTAR qPCR primer pairs in human, mouse for ACER3
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat ACER3
		QuantiTect SYBR Green Assays in human, mouse, rat ACER3
		QuantiFast Probe-based Assays in human, mouse, rat ACER3

Additional mRNA sequence:

AF214454.1 AF327353.1 AK002100.1 AK090589.1 AK293800.1 AK294978.1 AK295142.1 AK295327.1

AK308856.1 AK315000.1 AK316120.1 BC049837.1 BC063034.1 BC073853.1

11 DOTS entries:

DT.215247 DT.95272209 DT.99965280 DT.75187136 DT.100775431 DT.120712876 DT.92430861 DT.91850107

DT.120712854 DT.91978817 DT.100775433

Selected AceView cDNA sequences (see all 173):

AL041534 Z42572 AI375670 AA993809 AW269898 AW580728 CB151110 AU127447

AK090589 AI381255 AW128871 BX509135 AA172039 AA258916 F08429 BQ889235

BU679820 AI494146 AA810123 AI089829 BF109605 AA285133 AA828500 BC049837

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for ACER3 About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15
SP1:			-								-
SP2:							-				-								-
SP3:			-				-				-								-
SP4:			-				-		-										-

ECgene alternative splicing isoforms for ACER3

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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ACER3 expression in normal human tissues (normalized intensities) ACER3 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: GTGGCAGAGC

About this image

ACER3 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 3) fully expand


Limb (Muscoskeletal System)
Limb Muscle Progenitor Cells Forelimb Myotome

Skeletal Muscle (Muscoskeletal System)
Limb Muscle Progenitor Cells Forelimb Myotome

Testis (Reproductive System)

ACER3 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

ACER3 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.23862

UniProtKB/Swiss-Prot: ACER3_HUMAN, Q9NUN7

Tissue specificity: Ubiquitously expressed. Highest expression in placenta

Custom PCR Arrays for ACER3

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACER3

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of eukaryotes.

Orthologs for ACER3 gene from Selected species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Acer3^{1 , 5}	alkaline ceramidase 3^{1, 5}	88.51(n)¹ 88.39(a)¹		7 (53.65 cM)⁵ 66190¹ NM_025408.2¹ NP_079684.2¹ 98213658⁵
chicken (Gallus gallus)	Aves	ACER3¹	alkaline ceramidase 3	76.94(n) 74.44(a)		419087 XM_417279.4 XP_417279.1
lizard (Anolis carolinensis)	Reptilia	ACER3⁶	alkaline ceramidase 3	75(a)	1 ↔ 1	GL343493.1(138772-176417)
African clawed frog (Xenopus laevis)	Amphibia	Xl.32071²	Xenopus laevis transcribed sequence with moderate similarity more	74.52(n)		CD303475.1
zebrafish (Danio rerio)	Actinopterygii	Dr.27687²	Transcribed sequence with weak similarity to protein more	77.72(n)		AI979378.1
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	YDC1(YPL087W)⁴ YDC1¹	Alkaline dihydroceramidase, involved in sphingolipid more⁴ YDC1¹	49.65(n)¹ 38.4(a)¹		16(383455-384408)⁴ 856018^{1, 4} NP_015238.1^{1, 4}
thale cress (Arabidopsis thaliana)	eudicotyledons	ATCES1¹	ATCES1	45.13(n) 30.86(a)		828328 NM_118359.3 NP_567660.1
rice (Oryza sativa)	Liliopsida	Os03g0698900¹	Os03g0698900	44.81(n) 32.38(a)		4333811 NM_001057518.1 NP_001050983.1

ENSEMBL Gene Tree for ACER3 (if available)
TreeFam Gene Tree for ACER3 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs12795242^1,2	C,F	--	76569933(+)	`gagggG/Agtact`	1	--	us2k¹		4		NA WA	242
rs117946672^1,2	F	--	76569952(+)	`ATTCCC/TGGAAG`	1	--	us2k¹		1		NA	120
rs144168028^1,2	C	--	76570007(+)	`TGGGCA/GACAGA`	1	--	us2k¹		0	--	--	--	--
rs193081866^1,2		--	76570030(+)	`CTCAAA/CAAAGA`	1	--	us2k¹		0	--	--	--	--
rs7931561^1,2	C,F,A,H	--	76570060(+)	`TATTCC/GTATTA`	1	--	us2k¹ tfbs³		28		NS EA NA WA CSA	2778
rs147781105^1,2	C	--	76570145(+)	`ATCACA/GAGGTC`	1	--	us2k¹		0	--	--	--	--
rs185412332^1,2		--	76570182(+)	`AAGGTA/GAAACC`	1	--	us2k¹		0	--	--	--	--
rs7931894^1,2	C,F,A	--	76570322(+)	`TGCCAC/GTGCAT`	1	--	us2k¹		7		NA WA CSA	12
rs189890384^1,2		--	76570339(+)	`CTGGCA/CGACAG`	1	--	us2k¹		0	--	--	--	--
rs10677160^1,2	C	--	76570372(+)	`aaaaa-/A/ AAAAAaaaaa`	1	--	us2k¹ trp³		1		NA	2

HapMap Linkage Disequilibrium report for ACER3 (76571911 - 76737841 bp)

Structural Variations
Database of Genomic Variants (DGV) 9 variations for ACER3: About this table

Variant ID	Type	Subtype	PubMed ID
esv2661671	CNV	Deletion	23128226
esv1509546	CNV	Insertion	17803354
nsv507599	CNV	Insertion	20534489
nsv498761	CNV	Loss	21111241
nsv518920	CNV	Loss	19592680
esv23557	CNV	Loss	19812545
nsv396	CNV	Loss	18451855
nsv519309	CNV	Loss	19592680
nsv519700	CNV	Gain+Loss	19592680

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing ACER3

DNA2.0 Custom Variant and Variant Library Synthesis for ACER3

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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7 diseases for ACER3: About MalaCards

partial fetal alcohol syndrome lipogranulomatosis farber lipogranulomatosis fetal alcohol syndrome

cortical blindness lynch syndrome blindness

2 diseases from the University of Copenhagen DISEASES database for ACER3:

Partial fetal alcohol syndrome Farber lipogranulomatosis

ACER3 for disorders About GeneDecksing

Genetic Association Database (GAD): ACER3
Human Genome Epidemiology (HuGE) Navigator: ACER3 (5 documents)

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(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for ACER3 gene, integrated from 10 sources (see all 16):
(articles sorted by number of sources associating them with ACER3)

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Cloning and characterization of a novel human alkaline ceramidase. A mammalian enzyme that hydrolyzes phytoceramide. (PubMed id 11356846)^{1, 2, 3, 9} Mao C.... Obeid L.M. (J. Biol. Chem. 2001)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)^{1, 4} Rose J.E....Uhl G.R. (Mol. Med. 2010)
Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)^{1, 4} Bailey S.D....Anand S. (Diabetes Care 2010)
Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PubMed id 19834535)^{1, 4} Wheeler H.E....Kim S.K. (PLoS Genet. 2009)
Ceramidases: regulators of cellular responses mediated by ceramide, sphingosine, and sphingosine-1-phosphate. (PubMed id 18619555)^{1, 3} Mao C. and Obeid L.M. (Biochim. Biophys. Acta 2008)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S.... Malek J. (Genome Res. 2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (Nat. Genet. 2004)
Cytoskeletal scaffolding proteins interact with Lynch-Syndrome associated mismatch repair protein MLH1. (PubMed id 20706999)¹ Brieger A....Trojan J. (Proteomics 2010)
Alkaline ceramidase 3 (ACER3) hydrolyzes unsaturated long-chain ceramides, and its down-regulation inhibits both cell proliferation and apoptosis. (PubMed id 20068046)¹ Hu W....Mao C. (J. Biol. Chem. 2010)
Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)¹ Abdelmohsen K....Gorospe M. (EMBO J. 2009)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 55331	HGNC: 16066	AceView: PHCA	Ensembl:ENSG00000078124	euGenes: HUgn55331
ECgene: ACER3	Kegg: 55331	H-InvDB: ACER3

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for ACER3	Pharmacogenomics, SNPs, Pathways

Intellectual Property for ACER3 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for ACER3 gene:
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ACER3 Gene

Alkaline Ceramidase 3

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ACER3 Gene

Alkaline Ceramidase 3

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