Aliases for ACER3 Gene
Aliases for ACER3 Gene
External Ids for ACER3 Gene
- HGNC: 16066
- Entrez Gene: 55331
- Ensembl: ENSG00000078124
- UniProtKB: Q9NUN7
Previous HGNC Symbols for ACER3 Gene
- PHCA
Previous GeneCards Identifiers for ACER3 Gene
- GC11P076250
- GC11P076571
- GC11P072869
Summaries for ACER3 Gene
GeneCards Summary for ACER3 Gene
ACER3 (Alkaline Ceramidase 3) is a Protein Coding gene. Diseases associated with ACER3 include Partial Fetal Alcohol Syndrome and Posterior Amorphous Corneal Dystrophy. Among its related pathways are Metabolism and Sphingolipid metabolism. GO annotations related to this gene include hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides and phytoceramidase activity.
UniProtKB/Swiss-Prot for ACER3 Gene
-
Hydrolyzes only phytoceramide into phytosphingosine and free fatty acid. Does not have reverse activity.
No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACER3 Gene
Genomics for ACER3 Gene
Regulatory Elements for ACER3 Gene
Enhancers for ACER3 Gene
| GeneHancer Identifier | Score | Enhancer Sources | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Other Gene Targets for Enhancer |
|---|
Enhancers around ACER3 on UCSC Golden Path with GeneCards custom track
Promoters for ACER3 Gene
| Ensembl Regulatory Elements (ENSRs) | TSS Distance (bp) | Size (bp) | Binding Sites for Transcription Factors within promoters |
|---|
ENSRs around ACER3 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the ACER3 gene promoter:
Regulatory Element Products
Genomic Location for ACER3 Gene
- Chromosome:
- 11
- Start:
- 76,860,867 bp from pter
- End:
- 77,026,797 bp from pter
- Size:
- 165,931 bases
- Orientation:
- Plus strand
Genomic View for ACER3 Gene
Genes around ACER3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11q13.5 by Ensembl
- 11q13.5 by Entrez Gene
- 11q13.5 by HGNC
ACER3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ACER3 Gene
Proteins for ACER3 Gene
-
Protein details for ACER3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9NUN7-ACER3_HUMAN
- Recommended name:
- Alkaline ceramidase 3
- Protein Accession:
- Q9NUN7
- B2RC99
Protein attributes for ACER3 Gene
- Size:
- 267 amino acids
- Molecular mass:
- 31552 Da
- Quaternary structure:
- No Data Available
Post-translational modifications for ACER3 Gene
Other Protein References for ACER3 Gene
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for ACER3
- Invitrogen Antibodies for ACER3
- antibodies-online Antibodies for ACER3: See all 34
- GeneTex ACER3 antibody for ACER3
-
Santa Cruz Biotechnology (SCBT) Antibodies for ACER3
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for ACER3
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- Search GeneTex for Proteins for ACER3
Assay Products
- antibodies-online Kits for ACER3: See all 5
No data available for DME Specific Peptides for ACER3 Gene
Domains & Families for ACER3 Gene
Gene Families for ACER3 Gene
Protein Domains for ACER3 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for ACER3 Gene
Graphical View of Domain Structure for InterPro Entry
Q9NUN7- Family:
-
- Belongs to the alkaline ceramidase family.
Function for ACER3 Gene
Molecular function for ACER3 Gene
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Activated by Ca(2+) and inhibited by Zn(2+).
- UniProtKB/Swiss-Prot Function:
- Hydrolyzes only phytoceramide into phytosphingosine and free fatty acid. Does not have reverse activity.
Enzyme Numbers (IUBMB) for ACER3 Gene
Phenotypes for ACER3 Gene
- GenomeRNAi human phenotypes for ACER3:
Animal Model Products
-
Taconic Biosciences Mouse Models for ACER3
-
ViGene Biosciences lentiviral particle packaged cDNA for ACER3 gene
-
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CRISPR Products
-
OriGene CRISPR knockouts for ACER3
-
Santa Cruz Biotechnology (SCBT) CRISPR for ACER3
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miRNA for ACER3 Gene
- miRTarBase miRNAs that target ACER3
-
- hsa-mir-30b-5p (MIRT046140)
- hsa-mir-190a-3p (MIRT514744)
- hsa-mir-5011-5p (MIRT514745)
- hsa-mir-340-5p (MIRT514746)
- hsa-mir-410-3p (MIRT514747)
- hsa-mir-5590-3p (MIRT514748)
- hsa-mir-142-5p (MIRT514749)
- hsa-mir-3163 (MIRT514750)
- hsa-mir-1277-5p (MIRT514751)
- hsa-mir-6507-5p (MIRT514752)
- hsa-mir-5692a (MIRT514753)
- hsa-mir-186-5p (MIRT514754)
- hsa-mir-3133 (MIRT514755)
- hsa-mir-2681-5p (MIRT660940)
- hsa-mir-4768-5p (MIRT660941)
- hsa-mir-6833-3p (MIRT660942)
- hsa-mir-580-3p (MIRT660943)
- hsa-mir-4724-3p (MIRT660944)
- hsa-mir-6782-3p (MIRT660945)
- hsa-mir-130b-5p (MIRT660946)
miRNA Products
- Search ViGene Biosciences for ACER3
Inhibitory RNA Products
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-
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Cell Line Products
-
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-
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-
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Flow Cytometry Products
No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ACER3 Gene
Localization for ACER3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ACER3 Gene
- Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 5 |
| golgi apparatus | 5 |
| lysosome | 3 |
| plasma membrane | 3 |
| vacuole | 3 |
| extracellular | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0030176 | integral component of endoplasmic reticulum membrane | IDA | 11356846 |
Pathways & Interactions for ACER3 Gene
More details on SuperPathways for ACER3| Superpath | Contained pathways | ||
|---|---|---|---|
| 1 | Sphingolipid metabolism | ||
| 2 | Metabolism |
.38
|
Pathways by source for ACER3 Gene
4 Reactome pathways for ACER3 Gene
1 KEGG pathway for ACER3 Gene
Interacting Proteins for ACER3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006672 | ceramide metabolic process | IEA | -- |
| GO:0030148 | sphingolipid biosynthetic process | TAS | -- |
No data available for SIGNOR curated interactions for ACER3 Gene
Drugs & Compounds for ACER3 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| sphinganine | Pharma | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Dihydroceramide |
|
|
||||
| Water |
|
7732-18-5 |
|
Transcripts for ACER3 Gene
mRNA/cDNA for ACER3 Gene
- (10) REFSEQ mRNAs :
- (14) Additional mRNA sequences :
- (173) Selected AceView cDNA sequences:
- (14) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for ACER3
-
Santa Cruz Biotechnology (SCBT) CRISPR for ACER3
- GenScript: Design CRISPR guide RNA sequences for ACER3
miRNA Products
- Search ViGene Biosciences for ACER3
Inhibitory RNA Products
- Origene siRNA, shRNA, mouse_rna, and RNAi products in human, mouse, rat for ACER3
- Browse OriGene Inhibitory RNA Products For ACER3
-
ViGene Biosciences ready-to-package AAV shRNAs for ACER3 gene
Clone Products
- OriGene clones in human for ACER3
- OriGene ORF clones in human,mouse for ACER3
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- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
Flow Cytometry Products
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||||||||
| SP2: | - | - | - | ||||||||||||||||||||||||||
| SP3: | - | - | - | - | |||||||||||||||||||||||||
| SP4: | - | - | - | - |
Expression for ACER3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Limb (Muscoskeletal System)
- Limb Muscle Progenitor Cells Forelimb Myotome
-
Skeletal Muscle (Muscoskeletal System)
- Limb Muscle Progenitor Cells Forelimb Myotome
-
Testis (Reproductive System)
SOURCE GeneReport for Unigene cluster for ACER3 Gene Hs.23862
mRNA Expression by UniProt/SwissProt for ACER3 Gene
Q9NUN7-ACER3_HUMAN
Tissue specificity:
Ubiquitously expressed. Highest expression in placenta.
Primer Products
-
OriGene qPCR primer pairs for ACER3
-
OriGene qPCR primer pairs and template standards for ACER3
No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for ACER3 Gene
Orthologs for ACER3 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| cow (Bos Taurus) |
Mammalia | ACER3 35 |
|
||
| ACER3 36 |
|
OneToOne | |||
| dog (Canis familiaris) |
Mammalia | ACER3 35 |
|
||
| ACER3 36 |
|
OneToOne | |||
| mouse (Mus musculus) |
Mammalia | Acer3 35 |
|
||
| Acer3 16 |
|
||||
| Acer3 36 |
|
OneToOne | |||
| chimpanzee (Pan troglodytes) |
Mammalia | ACER3 35 |
|
||
| ACER3 36 |
|
OneToOne | |||
| rat (Rattus norvegicus) |
Mammalia | Acer3 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | ACER3 36 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | ACER3 36 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ACER3 35 |
|
||
| ACER3 36 |
|
OneToOne | |||
| lizard (Anolis carolinensis) |
Reptilia | ACER3 36 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | acer3 35 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.32071 35 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | Dr.27687 35 |
|
||
| LOC555411 35 |
|
||||
| acer3 36 |
|
OneToOne | |||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E23981g 35 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | YDC1 35 |
|
||
| YDC1 36 |
|
OneToMany | |||
| YPC1 36 |
|
OneToMany | |||
| YDC1 38 |
|
|
|||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | ATCES1 35 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os03g0698900 35 |
|
||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU02969 35 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 36 |
|
OneToOne |
- Species with no ortholog for ACER3:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for ACER3 Gene
No data available for Paralogs for ACER3 Gene
Variants for ACER3 Gene
| SNP ID | Clin | Chr 11 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs525256 | -- | 76,941,012(-) | tgtgt(A/T)TATAC | intron-variant | |
| rs538849 | -- | 76,992,886(+) | TTTTT(G/T)GAAAT | intron-variant | |
| rs547411 | -- | 76,918,159(+) | CTCCC(A/C)ACTTA | intron-variant, upstream-variant-2KB | |
| rs579401 | -- | 76,933,103(-) | tttta(A/G)gtagg | intron-variant | |
| rs584031 | -- | 76,889,080(+) | CCCAC(A/C)AGCAT | intron-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv518920 | CNV | Loss | 19592680 |
| nsv519309 | CNV | Loss | 19592680 |
| nsv519700 | CNV | Gain+Loss | 19592680 |
| esv1509546 | CNV | Insertion | 17803354 |
| nsv396 | CNV | Loss | 18451855 |
| esv2661671 | CNV | Deletion | 23128226 |
| nsv498761 | CNV | Loss | 21111241 |
| esv23557 | CNV | Loss | 19812545 |
| nsv507599 | CNV | Insertion | 20534489 |
Residual Variation Intolerance Score:
48.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.15;
3.39% of all genes are more intolerant (likely to be disease-causing)
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for ACER3 Gene
Disorders for ACER3 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| partial fetal alcohol syndrome |
|
|
| posterior amorphous corneal dystrophy |
|
|
| farber lipogranulomatosis |
|
|
Search ACER3 in MalaCards
View complete list of genes associated with diseases
Relevant External Links for ACER3
No data available for UniProtKB/Swiss-Prot and Genatlas for ACER3 Gene
Publications for ACER3 Gene
- Cloning and characterization of a novel human alkaline ceramidase. A mammalian enzyme that hydrolyzes phytoceramide. (PMID: 11356846) Mao C. … Obeid L.M. (J. Biol. Chem. 2001) 2 3 4 23 67
- Ceramidases: regulators of cellular responses mediated by ceramide, sphingosine, and sphingosine-1-phosphate. (PMID: 18619555) Mao C. … Obeid L.M. (Biochim. Biophys. Acta 2008) 2 3
- Alkaline ceramidase 3 (ACER3) hydrolyzes unsaturated long-chain ceramides, and its down-regulation inhibits both cell proliferation and apoptosis. (PMID: 20068046) Hu W. … Mao C. (J. Biol. Chem. 2010) 3
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3
- Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3
Products for ACER3 Gene
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- antibodies-online Antibodies for ACER3: See all 34
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Sources for ACER3 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) I2D
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) UniGene
- (28) AceView
- (29) RNAdb
- (30) ASD
- (31) ECgene
- (32) GeneAnnot
- (33) SAGE
- (34) SOURCE
- (35) HomoloGene
- (36) PanEnsembl
- (37) euGenes
- (38) SGD
- (39) FlyBase
- (40) WormBase
- (41) Pseudogene
- (42) DGV
- (43) dbSNP
- (44) HapMap
- (45) GenAtlas
- (46) GeneTests
- (47) HGMD
- (48) GAD
- (49) LSDB
- (50) BGMUT
- (51) HuGE
- (52) eBioscience
- (53) Atlas
- (54) Cell Signaling Technology
- (55) GenBank
- (56) H-invDB
- (57) HORDE
- (58) HUGE
- (59) IMGT
- (60) Leiden
- (61) MILLIPORE
- (62) miRBase
- (63) DME
- (64) Nature
- (65) NCBI
- (66) OriGene
- (67) PubMed
- (68) R&D Systems
- (69) Salk
- (70) TGDB
- (71) Tufts
- (72) YEDA
- (73) CROW21
- (74) Tocris
- (75) Abcam
- (76) Novus
- (77) ProSpec
- (78) Sino Biological
- (79) GenScript
- (80) Qiagen
- (81) Cloud-Clone Corp.
- (82) Enzo Life Sciences
- (83) OCA
- (84) Proteopedia
- (85) MOPED
- (86) SPIRE
- (87) neXtProt
- (88) Reactome
- (89) GeneGo (Thomson Reuters)
- (90) fRNAdb
- (91) DISEASES
- (92) SIMAP
- (93) GenomeRNAi
- (94) LifeMap
- (95) miRTarBase
- (96) MalaCards
- (97) Invitrogen
- (98) BitterDB
- (99) Vector BioLabs
- (100) ESI-BIO
- (101) RefSeq
- (102) BioSystems
- (103) MaxQB
- (104) IUPHAR
- (105) BioGPS
- (106) Illumina
- (107) COMPARTMENTS
- (108) HOMER
- (109) PaxDb
- (110) ApexBio
- (111) Addgene
- (112) Advanced Cell Diagnostics
- (113) antibodies-online
- (114) CYP
- (115) NONCODE
- (116) SwitchGear Genomics
- (117) TreeFam
- (118) PathCards
- (119) GeneReviews
- (120) GeneTex
- (121) Taconic Biosciences
- (122) GTEx
- (123) ProteomicsDB
- (124) SCBT
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- (126) ClinicalTrials
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- (136) Genetics Home Reference
- (137) MeSH
- (138) MedlinePlus
- (139) CDC
- (140) NINDS
- (141) NCBI Bookshelf
- (142) ClinVar
- (143) Gene Damage Index
- (144) ViGene Biosciences
- (145) HPO
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- (148) FANTOM5
- (149) ENCODE
- (150) ProSci
- (151) Horizon