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ACER3 alkaline ceramidase 3 [ Homo sapiens (human) ]

Gene ID: 55331, updated on 21-Dec-2019

Summary

Official Symbol
ACER3provided by HGNC
Official Full Name
alkaline ceramidase 3provided by HGNC
Primary source
HGNC:HGNC:16066
See related
Ensembl:ENSG00000078124 MIM:617036
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
APHC; PHCA; PLDECO
Expression
Ubiquitous expression in fat (RPKM 8.3), brain (RPKM 5.5) and 24 other tissues See more
Orthologs

Genomic context

See ACER3 in Genome Data Viewer
Location:
11q13.5
Exon count:
16
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (76860888..77026797)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (76571917..76734850)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928837 Neighboring gene tsukushi, small leucine rich proteoglycan Neighboring gene CRISPRi-validated cis-regulatory element chr11.4478 Neighboring gene Sharpr-MPRA regulatory region 1403 Neighboring gene uncharacterized LOC105369399 Neighboring gene UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ11238

Gene Ontology Provided by GOA

Function Evidence Code Pubs
N-acylsphingosine amidohydrolase activity IDA
Inferred from Direct Assay
more info
PubMed 
N-acylsphingosine amidohydrolase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
ceramidase activity IEA
Inferred from Electronic Annotation
more info
 
dihydroceramidase activity IDA
Inferred from Direct Assay
more info
PubMed 
dihydroceramidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
phytoceramidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phytoceramidase activity IDA
Inferred from Direct Assay
more info
PubMed 
phytoceramidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
phytoceramidase activity TAS
Traceable Author Statement
more info
 
zinc ion binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
ceramide catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
ceramide catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
inflammatory response IEA
Inferred from Electronic Annotation
more info
 
myelination IMP
Inferred from Mutant Phenotype
more info
PubMed 
phytosphingosine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phytosphingosine biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of programmed cell death IDA
Inferred from Direct Assay
more info
PubMed 
sphingolipid biosynthetic process TAS
Traceable Author Statement
more info
 
sphingosine biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
sphingosine biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of Golgi membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
alkaline ceramidase 3
Names
alkCDase 3
alkaline CDase 3
alkaline dihydroceramidase SB89
alkaline phytoceramidase
phytoceramidase, alkaline
NP_001287882.1
NP_001287883.1
NP_001287884.1
NP_060837.3
XP_011543453.1
XP_011543454.1
XP_011543455.1
XP_016873476.1
XP_016873477.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001300953.2NP_001287882.1  alkaline ceramidase 3 isoform b

    See identical proteins and their annotated locations for NP_001287882.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AI885537, AK294978, AP000752, AP002498, BG702017
    Consensus CDS
    CCDS76454.1
    UniProtKB/TrEMBL
    B7Z2Q2
    Related
    ENSP00000436252.1, ENST00000533873.1
    Conserved Domains (1) summary
    pfam05875
    Location:9222
    Ceramidase; Ceramidase
  2. NM_001300954.2NP_001287883.1  alkaline ceramidase 3 isoform c

    See identical proteins and their annotated locations for NP_001287883.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an internal exon and has another exon in its place compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3 and 4 both encode the same isoform (c).
    Source sequence(s)
    AI885537, AP000752, BC049837, BG702017
    Consensus CDS
    CCDS73352.1
    UniProtKB/TrEMBL
    B7Z2V2
    Related
    ENSP00000431149.1, ENST00000526597.5
    Conserved Domains (1) summary
    pfam05875
    Location:1161
    Ceramidase; Ceramidase
  3. NM_001300955.2NP_001287884.1  alkaline ceramidase 3 isoform c

    See identical proteins and their annotated locations for NP_001287884.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an alternate exon and uses a downstream translation start codon compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3 and 4 both encode the same isoform (c).
    Source sequence(s)
    AI885537, AK316120, AP000752, BG702017
    Consensus CDS
    CCDS73352.1
    UniProtKB/TrEMBL
    B7Z2V2
    Conserved Domains (1) summary
    pfam05875
    Location:1161
    Ceramidase; Ceramidase
  4. NM_018367.7NP_060837.3  alkaline ceramidase 3 isoform a

    See identical proteins and their annotated locations for NP_060837.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AI885537, AK315000, AP000752, AP002498, DB461413
    Consensus CDS
    CCDS8247.1
    UniProtKB/Swiss-Prot
    Q9NUN7
    Related
    ENSP00000434480.1, ENST00000532485.6
    Conserved Domains (1) summary
    pfam05875
    Location:9259
    Ceramidase; Ceramidase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    76860888..77026797
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017017987.1XP_016873476.1  alkaline ceramidase 3 isoform X3

  2. XM_011545151.2XP_011543453.1  alkaline ceramidase 3 isoform X1

    Conserved Domains (1) summary
    pfam05875
    Location:9225
    Ceramidase; Ceramidase
  3. XM_011545153.2XP_011543455.1  alkaline ceramidase 3 isoform X4

    See identical proteins and their annotated locations for XP_011543455.1

    Conserved Domains (1) summary
    pfam05875
    Location:9164
    Ceramidase; Ceramidase
  4. XM_017017988.1XP_016873477.1  alkaline ceramidase 3 isoform X4

    Conserved Domains (1) summary
    pfam05875
    Location:9164
    Ceramidase; Ceramidase
  5. XM_011545152.2XP_011543454.1  alkaline ceramidase 3 isoform X2

    See identical proteins and their annotated locations for XP_011543454.1

    Related
    ENSP00000435733.1, ENST00000534206.5
    Conserved Domains (1) summary
    pfam05875
    Location:1217
    Ceramidase; Ceramidase

RNA

  1. XR_001747919.1 RNA Sequence

  2. XR_001747918.1 RNA Sequence

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