ACER3 (alkaline ceramidase 3) - Rat Genome Database

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Gene: ACER3 (alkaline ceramidase 3) Homo sapiens
Analyze
Symbol: ACER3
Name: alkaline ceramidase 3
RGD ID: 1346570
HGNC Page HGNC
Description: Exhibits N-acylsphingosine amidohydrolase activity and metal ion binding activity. Involved in several processes, including myelination; positive regulation of cell population proliferation; and sphingolipid metabolic process. Localizes to integral component of Golgi membrane and integral component of endoplasmic reticulum membrane. Biomarker of hepatocellular carcinoma and non-alcoholic steatohepatitis; PARTICIPATES IN Fabry disease pathway; Gaucher's disease pathway; Krabbe disease pathway; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aristolochic acid; arsane.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: alkaline CDase 3; alkaline dihydroceramidase SB89; alkaline phytoceramidase; alkCDase 3; APHC; FLJ11238; PHCA; phytoceramidase, alkaline; PLDECO
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1176,860,859 - 77,026,797 (+)EnsemblGRCh38hg38GRCh38
GRCh381176,860,888 - 77,026,797 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371176,571,962 - 76,737,841 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361176,249,601 - 76,411,617 (+)NCBINCBI36hg18NCBI36
Build 341176,249,600 - 76,411,615NCBI
Celera1173,879,386 - 74,042,342 (+)NCBI
Cytogenetic Map11q13.5NCBI
HuRef1172,869,413 - 73,032,747 (+)NCBIHuRef
CHM1_11176,454,989 - 76,617,931 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:11356846   PMID:12477932   PMID:14702039   PMID:15489334   PMID:17207965   PMID:18619555   PMID:19322201   PMID:19834535   PMID:19913121   PMID:20068046   PMID:20207939   PMID:20379614  
PMID:20628086   PMID:20706999   PMID:21873635   PMID:26792856   PMID:27470583   PMID:29987050   PMID:30575723  


Genomics

Comparative Map Data
ACER3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1176,860,859 - 77,026,797 (+)EnsemblGRCh38hg38GRCh38
GRCh381176,860,888 - 77,026,797 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371176,571,962 - 76,737,841 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361176,249,601 - 76,411,617 (+)NCBINCBI36hg18NCBI36
Build 341176,249,600 - 76,411,615NCBI
Celera1173,879,386 - 74,042,342 (+)NCBI
Cytogenetic Map11q13.5NCBI
HuRef1172,869,413 - 73,032,747 (+)NCBIHuRef
CHM1_11176,454,989 - 76,617,931 (+)NCBICHM1_1
Acer3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39797,863,015 - 97,970,415 (-)NCBIGRCm39mm39
GRCm39 Ensembl797,855,596 - 97,970,415 (-)Ensembl
GRCm38798,213,808 - 98,321,208 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl798,206,389 - 98,321,208 (-)EnsemblGRCm38mm10GRCm38
MGSCv377105,362,170 - 105,458,037 (-)NCBIGRCm37mm9NCBIm37
MGSCv36798,088,852 - 98,184,719 (-)NCBImm8
Celera798,537,783 - 98,626,816 (-)NCBICelera
Cytogenetic Map7E1NCBI
Acer3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21152,504,180 - 152,606,596 (-)NCBI
Rnor_6.0 Ensembl1163,160,979 - 163,263,606 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01163,160,987 - 163,263,621 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01169,367,775 - 169,469,576 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41155,455,466 - 155,556,319 (-)NCBIRGSC3.4rn4RGSC3.4
Celera1150,595,013 - 150,696,477 (-)NCBICelera
Cytogenetic Map1q32NCBI
Acer3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541414,746,529 - 14,848,151 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541414,741,027 - 14,846,931 (-)NCBIChiLan1.0ChiLan1.0
ACER3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11175,557,846 - 75,717,627 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1175,557,846 - 75,717,586 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01171,911,204 - 72,077,528 (+)NCBIMhudiblu_PPA_v0panPan3
ACER3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12121,711,315 - 21,863,409 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2121,714,156 - 21,863,320 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2121,541,041 - 21,692,389 (-)NCBI
ROS_Cfam_1.02121,911,015 - 22,065,639 (-)NCBI
UMICH_Zoey_3.12121,686,424 - 21,836,835 (-)NCBI
UNSW_CanFamBas_1.02121,904,895 - 22,056,205 (-)NCBI
UU_Cfam_GSD_1.02121,826,685 - 21,978,077 (-)NCBI
Acer3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494763,891,661 - 64,079,838 (+)NCBI
SpeTri2.0NW_0049364985,496,991 - 5,653,206 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ACER3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl910,951,561 - 11,165,493 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1910,985,078 - 11,167,386 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2912,135,522 - 12,190,445 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ACER3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1168,072,323 - 68,228,036 (+)NCBI
ChlSab1.1 Ensembl168,072,544 - 68,227,736 (+)Ensembl
Vero_WHO_p1.0NW_02366604357,546,989 - 57,716,409 (-)NCBI
Acer3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462486337,148 - 96,550 (+)NCBI

Position Markers
RH47059  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,734,475 - 76,734,596UniSTSGRCh37
Build 361176,412,123 - 76,412,244RGDNCBI36
Celera1174,041,967 - 74,042,088RGD
Cytogenetic Map11q13.5UniSTS
HuRef1173,032,372 - 73,032,493UniSTS
GeneMap99-GB4 RH Map11278.45UniSTS
D11S2785  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,666,006 - 76,666,176UniSTSGRCh37
Build 361176,343,654 - 76,343,824RGDNCBI36
Celera1173,973,493 - 73,973,663RGD
Cytogenetic Map11q13.5UniSTS
HuRef1172,963,853 - 72,964,023UniSTS
D11S3647  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,610,826 - 76,611,116UniSTSGRCh37
Build 361176,288,474 - 76,288,764RGDNCBI36
Celera1173,918,287 - 73,918,577RGD
Cytogenetic Map11q13.5UniSTS
HuRef1172,908,337 - 72,908,627UniSTS
A009O40  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,723,162 - 76,723,325UniSTSGRCh37
Build 361176,400,810 - 76,400,973RGDNCBI36
Celera1174,030,670 - 74,030,833RGD
Cytogenetic Map11q13.5UniSTS
HuRef1173,021,074 - 73,021,237UniSTS
GeneMap99-GB4 RH Map11277.11UniSTS
NCBI RH Map11636.6UniSTS
RH36071  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,731,789 - 76,731,892UniSTSGRCh37
Build 361176,409,437 - 76,409,540RGDNCBI36
Celera1174,039,296 - 74,039,399RGD
Cytogenetic Map11q13.5UniSTS
HuRef1173,029,701 - 73,029,804UniSTS
GeneMap99-GB4 RH Map11277.12UniSTS
WI-11295  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,733,768 - 76,733,884UniSTSGRCh37
Build 361176,411,416 - 76,411,532RGDNCBI36
Celera1174,041,275 - 74,041,391RGD
Cytogenetic Map11q13.5UniSTS
HuRef1173,031,680 - 73,031,796UniSTS
GeneMap99-GB4 RH Map11277.11UniSTS
Whitehead-RH Map11372.7UniSTS
NCBI RH Map11636.6UniSTS
RH65512  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,731,352 - 76,731,489UniSTSGRCh37
Build 361176,409,000 - 76,409,137RGDNCBI36
Celera1174,038,859 - 74,038,996RGD
Cytogenetic Map11q13.5UniSTS
HuRef1173,029,264 - 73,029,401UniSTS
GeneMap99-GB4 RH Map11277.11UniSTS
G32714  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371176,723,162 - 76,723,325UniSTSGRCh37
Celera1174,030,670 - 74,030,833UniSTS
Cytogenetic Map11q13.5UniSTS
HuRef1173,021,074 - 73,021,237UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7393
Count of miRNA genes:1298
Interacting mature miRNAs:1657
Transcripts:ENST00000278544, ENST00000525194, ENST00000525325, ENST00000525861, ENST00000526597, ENST00000527508, ENST00000530182, ENST00000530334, ENST00000530921, ENST00000531352, ENST00000531461, ENST00000532485, ENST00000533873, ENST00000534206, ENST00000538157, ENST00000544113
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 217 252 95 27 475 30 1369 62 1278 128 407 864 14 788 627 5
Low 2222 2731 1629 595 1469 433 2979 2124 2456 291 1053 749 161 1 416 2152 1 2
Below cutoff 8 2 2 7 2 9 11 9

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001300953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001300954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001300955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF214454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF327353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI885537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK002100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP002498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP003119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC049837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC073853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG702017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB461413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000278544   ⟹   ENSP00000278544
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1176,860,950 - 77,022,925 (+)Ensembl
RefSeq Acc Id: ENST00000525194   ⟹   ENSP00000432109
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1176,860,924 - 77,016,689 (+)Ensembl
RefSeq Acc Id: ENST00000525325
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1176,998,554 - 77,020,312 (+)Ensembl
RefSeq Acc Id: ENST00000525861   ⟹   ENSP00000432379
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1176,860,935 - 77,021,346 (+)Ensembl
RefSeq Acc Id: ENST00000526597   ⟹   ENSP00000431149
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1176,860,939 - 77,020,700 (+)Ensembl
RefSeq Acc Id: ENST00000527508
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1176,926,557 - 77,015,106 (+)Ensembl
RefSeq Acc Id: ENST00000530182
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1176,860,921 - 76,994,212 (+)Ensembl
RefSeq Acc Id: ENST00000530334   ⟹   ENSP00000435048
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1176,860,937 - 77,015,261 (+)Ensembl
RefSeq Acc Id: ENST00000530921
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1177,019,537 - 77,020,600 (+)Ensembl
RefSeq Acc Id: ENST00000531352   ⟹   ENSP00000431504
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1176,860,943 - 77,021,545 (+)Ensembl
RefSeq Acc Id: ENST00000531461   ⟹   ENSP00000433368
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1176,860,936 - 77,020,827 (+)Ensembl
RefSeq Acc Id: ENST00000532485   ⟹   ENSP00000434480
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1176,860,918 - 77,026,797 (+)Ensembl
RefSeq Acc Id: ENST00000533873   ⟹   ENSP00000436252
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1176,860,942 - 77,020,528 (+)Ensembl
RefSeq Acc Id: ENST00000534206   ⟹   ENSP00000435733
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1176,860,867 - 77,019,767 (+)Ensembl
RefSeq Acc Id: ENST00000679611
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1176,860,937 - 76,980,663 (+)Ensembl
RefSeq Acc Id: ENST00000679754   ⟹   ENSP00000505416
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1176,860,859 - 77,023,879 (+)Ensembl
RefSeq Acc Id: ENST00000679759
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1177,013,435 - 77,023,879 (+)Ensembl
RefSeq Acc Id: ENST00000679813
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1177,016,013 - 77,024,052 (+)Ensembl
RefSeq Acc Id: ENST00000679866   ⟹   ENSP00000505175
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1176,860,870 - 77,023,879 (+)Ensembl
RefSeq Acc Id: ENST00000679924   ⟹   ENSP00000506405
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1176,860,939 - 77,023,879 (+)Ensembl
RefSeq Acc Id: ENST00000680164
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1177,010,761 - 77,022,892 (+)Ensembl
RefSeq Acc Id: ENST00000680351
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1176,920,079 - 77,024,039 (+)Ensembl
RefSeq Acc Id: ENST00000680583   ⟹   ENSP00000505842
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1176,860,906 - 77,024,055 (+)Ensembl
RefSeq Acc Id: ENST00000680624
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1177,018,042 - 77,023,904 (+)Ensembl
RefSeq Acc Id: ENST00000680842   ⟹   ENSP00000506534
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1176,860,873 - 77,023,879 (+)Ensembl
RefSeq Acc Id: ENST00000681004   ⟹   ENSP00000505132
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1176,860,924 - 77,023,889 (+)Ensembl
RefSeq Acc Id: ENST00000681251   ⟹   ENSP00000505549
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1176,860,940 - 77,023,879 (+)Ensembl
RefSeq Acc Id: ENST00000681257   ⟹   ENSP00000506160
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1176,860,877 - 77,023,879 (+)Ensembl
RefSeq Acc Id: ENST00000681258
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1176,989,513 - 77,023,879 (+)Ensembl
RefSeq Acc Id: ENST00000681354   ⟹   ENSP00000505846
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1176,860,888 - 77,023,879 (+)Ensembl
RefSeq Acc Id: ENST00000681375   ⟹   ENSP00000506417
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1176,860,924 - 77,024,057 (+)Ensembl
RefSeq Acc Id: ENST00000681411   ⟹   ENSP00000504918
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1176,860,937 - 77,023,879 (+)Ensembl
RefSeq Acc Id: ENST00000681591
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1176,976,304 - 76,991,317 (+)Ensembl
RefSeq Acc Id: ENST00000681732   ⟹   ENSP00000504927
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1176,860,896 - 77,024,055 (+)Ensembl
RefSeq Acc Id: ENST00000681955   ⟹   ENSP00000505191
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1176,860,937 - 77,023,977 (+)Ensembl
RefSeq Acc Id: NM_001300953   ⟹   NP_001287882
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381176,860,918 - 77,026,797 (+)NCBI
CHM1_11176,454,989 - 76,620,916 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001300954   ⟹   NP_001287883
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381176,860,918 - 77,026,797 (+)NCBI
CHM1_11176,454,989 - 76,620,916 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001300955   ⟹   NP_001287884
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381176,860,918 - 77,026,797 (+)NCBI
CHM1_11176,454,989 - 76,620,916 (+)NCBI
Sequence:
RefSeq Acc Id: NM_018367   ⟹   NP_060837
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381176,860,918 - 77,026,797 (+)NCBI
GRCh371176,571,917 - 76,734,850 (+)RGD
Build 361176,249,601 - 76,411,617 (+)NCBI Archive
Celera1173,879,386 - 74,042,342 (+)RGD
HuRef1172,869,413 - 73,032,747 (+)ENTREZGENE
CHM1_11176,454,989 - 76,620,916 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545151   ⟹   XP_011543453
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381176,860,907 - 77,026,797 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545152   ⟹   XP_011543454
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381176,920,113 - 77,026,797 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545153   ⟹   XP_011543455
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381176,860,907 - 77,016,743 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017017987   ⟹   XP_016873476
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381176,860,888 - 76,997,224 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017017988   ⟹   XP_016873477
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381176,860,907 - 77,012,417 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001747918
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381176,860,907 - 77,026,797 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001747919
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381176,860,907 - 77,026,797 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_060837   ⟸   NM_018367
- Peptide Label: isoform a
- UniProtKB: Q9NUN7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001287883   ⟸   NM_001300954
- Peptide Label: isoform c
- UniProtKB: B7Z2V2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001287884   ⟸   NM_001300955
- Peptide Label: isoform c
- UniProtKB: B7Z2V2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001287882   ⟸   NM_001300953
- Peptide Label: isoform b
- UniProtKB: B7Z2Q2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011543453   ⟸   XM_011545151
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011543455   ⟸   XM_011545153
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011543454   ⟸   XM_011545152
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016873476   ⟸   XM_017017987
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016873477   ⟸   XM_017017988
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: ENSP00000435048   ⟸   ENST00000530334
RefSeq Acc Id: ENSP00000433368   ⟸   ENST00000531461
RefSeq Acc Id: ENSP00000431504   ⟸   ENST00000531352
RefSeq Acc Id: ENSP00000434480   ⟸   ENST00000532485
RefSeq Acc Id: ENSP00000436252   ⟸   ENST00000533873
RefSeq Acc Id: ENSP00000435733   ⟸   ENST00000534206
RefSeq Acc Id: ENSP00000432379   ⟸   ENST00000525861
RefSeq Acc Id: ENSP00000432109   ⟸   ENST00000525194
RefSeq Acc Id: ENSP00000431149   ⟸   ENST00000526597
RefSeq Acc Id: ENSP00000278544   ⟸   ENST00000278544
RefSeq Acc Id: ENSP00000504918   ⟸   ENST00000681411
RefSeq Acc Id: ENSP00000504927   ⟸   ENST00000681732
RefSeq Acc Id: ENSP00000505175   ⟸   ENST00000679866
RefSeq Acc Id: ENSP00000505842   ⟸   ENST00000680583
RefSeq Acc Id: ENSP00000505132   ⟸   ENST00000681004
RefSeq Acc Id: ENSP00000506405   ⟸   ENST00000679924
RefSeq Acc Id: ENSP00000506160   ⟸   ENST00000681257
RefSeq Acc Id: ENSP00000506417   ⟸   ENST00000681375
RefSeq Acc Id: ENSP00000505416   ⟸   ENST00000679754
RefSeq Acc Id: ENSP00000505549   ⟸   ENST00000681251
RefSeq Acc Id: ENSP00000506534   ⟸   ENST00000680842
RefSeq Acc Id: ENSP00000505191   ⟸   ENST00000681955
RefSeq Acc Id: ENSP00000505846   ⟸   ENST00000681354

Promoters
RGD ID:6788437
Promoter ID:HG_KWN:13776
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_018367,   UC001OXU.2,   UC009YUL.1,   UC009YUN.1,   UC009YUO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361176,249,229 - 76,249,729 (+)MPROMDB
RGD ID:7221615
Promoter ID:EPDNEW_H16553
Type:initiation region
Name:ACER3_1
Description:alkaline ceramidase 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381176,860,937 - 76,860,997EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11q13.4-14.1(chr11:71923251-79662025)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052684]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052684]|See cases [RCV000052684] Chr11:71923251..79662025 [GRCh38]
Chr11:71634297..79373069 [GRCh37]
Chr11:71311945..79050717 [NCBI36]
Chr11:11q13.4-14.1
pathogenic
GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1 copy number loss See cases [RCV000052708] Chr11:71928796..77064521 [GRCh38]
Chr11:71639842..76751808 [GRCh37]
Chr11:71317490..76453216 [NCBI36]
Chr11:11q13.4-13.5
pathogenic
GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1 copy number loss See cases [RCV000052709] Chr11:71969881..78232895 [GRCh38]
Chr11:71680927..77943941 [GRCh37]
Chr11:71358575..77621589 [NCBI36]
Chr11:11q13.4-14.1
pathogenic
NM_018367.7(ACER3):c.566G>A (p.Trp189Ter) single nucleotide variant Alkaline ceramidase 3 deficiency [RCV001291525] Chr11:77015084 [GRCh38]
Chr11:76726128 [GRCh37]
Chr11:11q13.5
pathogenic
NM_018367.7(ACER3):c.587G>A (p.Cys196Tyr) single nucleotide variant Alkaline ceramidase 3 deficiency [RCV001331893] Chr11:77015105 [GRCh38]
Chr11:76726149 [GRCh37]
Chr11:11q13.5
pathogenic
GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1 copy number loss See cases [RCV000133838] Chr11:75941754..98357960 [GRCh38]
Chr11:75652798..98228688 [GRCh37]
Chr11:75330446..97733898 [NCBI36]
Chr11:11q13.5-22.1
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_018367.7(ACER3):c.98A>G (p.Glu33Gly) single nucleotide variant Alkaline ceramidase 3 deficiency [RCV000515460] Chr11:76861074 [GRCh38]
Chr11:76572118 [GRCh37]
Chr11:11q13.5
pathogenic
NM_018367.7(ACER3):c.607C>T (p.Arg203Ter) single nucleotide variant Alkaline ceramidase 3 deficiency [RCV000662224] Chr11:77016682 [GRCh38]
Chr11:76727726 [GRCh37]
Chr11:11q13.5
pathogenic|uncertain significance
GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3 copy number gain not provided [RCV000683374] Chr11:71588805..116680918 [GRCh37]
Chr11:11q13.4-23.3
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q13.5(chr11:76673691-76691264)x0 copy number loss not provided [RCV000737589] Chr11:76673691..76691264 [GRCh37]
Chr11:11q13.5
benign
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_018367.7(ACER3):c.475C>T (p.Arg159Ter) single nucleotide variant Alkaline ceramidase 3 deficiency [RCV001193350] Chr11:76998799 [GRCh38]
Chr11:76709843 [GRCh37]
Chr11:11q13.5
likely pathogenic
NM_018367.7(ACER3):c.227G>A (p.Gly76Glu) single nucleotide variant not specified [RCV001193349] Chr11:76958991 [GRCh38]
Chr11:76670035 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_018367.7(ACER3):c.292T>C (p.Tyr98His) single nucleotide variant Alkaline ceramidase 3 deficiency [RCV001270148] Chr11:76976313 [GRCh38]
Chr11:76687357 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_018367.7(ACER3):c.53T>C (p.Leu18Pro) single nucleotide variant Alkaline ceramidase 3 deficiency [RCV001270362] Chr11:76861029 [GRCh38]
Chr11:76572073 [GRCh37]
Chr11:11q13.5
uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16066 AgrOrtholog
COSMIC ACER3 COSMIC
Ensembl Genes ENSG00000078124 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000278544 UniProtKB/TrEMBL
  ENSP00000431149 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000431504 UniProtKB/TrEMBL
  ENSP00000432109 UniProtKB/TrEMBL
  ENSP00000432379 UniProtKB/TrEMBL
  ENSP00000433368 UniProtKB/TrEMBL
  ENSP00000434480 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000435048 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000435733 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000436252 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000505175 ENTREZGENE
  ENSP00000505842 ENTREZGENE
Ensembl Transcript ENST00000278544 UniProtKB/TrEMBL
  ENST00000525194 UniProtKB/TrEMBL
  ENST00000525861 UniProtKB/TrEMBL
  ENST00000526597 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000530334 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000531352 UniProtKB/TrEMBL
  ENST00000531461 UniProtKB/TrEMBL
  ENST00000532485 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000533873 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000534206 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000679866 ENTREZGENE
  ENST00000680583 ENTREZGENE
GTEx ENSG00000078124 GTEx
HGNC ID HGNC:16066 ENTREZGENE
Human Proteome Map ACER3 Human Proteome Map
InterPro ACER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55331 UniProtKB/Swiss-Prot
NCBI Gene 55331 ENTREZGENE
OMIM 617036 OMIM
  617762 OMIM
PANTHER PTHR46187 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ceramidase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33256 PharmGKB
UniProt ACER3_HUMAN UniProtKB/Swiss-Prot
  B7Z2Q2 ENTREZGENE, UniProtKB/TrEMBL
  B7Z2V2 ENTREZGENE, UniProtKB/TrEMBL
  E9PIN9_HUMAN UniProtKB/TrEMBL
  E9PKR3_HUMAN UniProtKB/TrEMBL
  E9PL35_HUMAN UniProtKB/TrEMBL
  E9PLZ9_HUMAN UniProtKB/TrEMBL
  E9PR08_HUMAN UniProtKB/TrEMBL
  J3KN85_HUMAN UniProtKB/TrEMBL
  L8E8G3_HUMAN UniProtKB/TrEMBL
  Q9NUN7 ENTREZGENE
UniProt Secondary B2RC99 UniProtKB/Swiss-Prot