ACER1 (alkaline ceramidase 1) - Rat Genome Database

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Gene: ACER1 (alkaline ceramidase 1) Homo sapiens
Analyze
Symbol: ACER1
Name: alkaline ceramidase 1
RGD ID: 1344470
HGNC Page HGNC:18356
Description: Enables N-acylsphingosine amidohydrolase activity. Involved in several processes, including keratinocyte differentiation; response to alkaline pH; and sphingolipid metabolic process. Located in endoplasmic reticulum.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: acylsphingosine deacylase 3; alkaline CDase 1; alkCDase 1; ALKCDase1; ASAH3; CTB-180A7.3; MGC138327; MGC138329; N-acylsphingosine amidohydrolase (alkaline ceramidase) 3; N-acylsphingosine amidohydrolase 3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38196,306,142 - 6,360,368 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl196,306,142 - 6,333,612 (-)EnsemblGRCh38hg38GRCh38
GRCh37196,306,153 - 6,333,623 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36196,257,725 - 6,284,562 (-)NCBINCBI36Build 36hg18NCBI36
Build 34196,257,724 - 6,284,562NCBI
Celera196,245,303 - 6,272,430 (-)NCBICelera
Cytogenetic Map19p13.3NCBI
HuRef196,065,539 - 6,093,294 (-)NCBIHuRef
CHM1_1196,306,127 - 6,333,277 (-)NCBICHM1_1
T2T-CHM13v2.0196,294,362 - 6,349,269 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. Genome-wide haplotype association mapping in mice identifies a genetic variant in CER1 associated with BMD and fracture in southern Chinese women. Tang PL, etal., J Bone Miner Res. 2009 Jun;24(6):1013-21. doi: 10.1359/jbmr.081258.
Additional References at PubMed
PMID:11915342   PMID:12477932   PMID:12783875   PMID:15489334   PMID:16477081   PMID:17562024   PMID:17713573   PMID:20207939   PMID:20628055   PMID:21873635   PMID:30021884   PMID:32296183  
PMID:34732716  


Genomics

Comparative Map Data
ACER1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38196,306,142 - 6,360,368 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl196,306,142 - 6,333,612 (-)EnsemblGRCh38hg38GRCh38
GRCh37196,306,153 - 6,333,623 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36196,257,725 - 6,284,562 (-)NCBINCBI36Build 36hg18NCBI36
Build 34196,257,724 - 6,284,562NCBI
Celera196,245,303 - 6,272,430 (-)NCBICelera
Cytogenetic Map19p13.3NCBI
HuRef196,065,539 - 6,093,294 (-)NCBIHuRef
CHM1_1196,306,127 - 6,333,277 (-)NCBICHM1_1
T2T-CHM13v2.0196,294,362 - 6,349,269 (-)NCBIT2T-CHM13v2.0
Acer1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391757,260,490 - 57,289,126 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1757,260,490 - 57,289,126 (-)EnsemblGRCm39 Ensembl
GRCm381756,953,490 - 56,982,126 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1756,953,490 - 56,982,126 (-)EnsemblGRCm38mm10GRCm38
MGSCv371757,092,913 - 57,121,549 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361756,638,614 - 56,667,250 (-)NCBIMGSCv36mm8
Celera1761,301,415 - 61,330,050 (-)NCBICelera
Cytogenetic Map17DNCBI
cM Map1729.59NCBI
Acer1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr891,881,361 - 1,911,439 (-)NCBIGRCr8
mRatBN7.291,794,340 - 1,824,432 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl91,793,139 - 1,824,434 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx92,228,390 - 2,258,319 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.097,577,751 - 7,607,677 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.096,533,609 - 6,563,538 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0910,061,978 - 10,093,588 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl910,061,978 - 10,093,588 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.099,062,245 - 9,093,541 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera96,692,746 - 6,724,451 (+)NCBICelera
Cytogenetic Map9q11NCBI
Acer1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554953,247,083 - 3,271,720 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554953,247,170 - 3,271,417 (+)NCBIChiLan1.0ChiLan1.0
ACER1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22010,706,922 - 10,738,430 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1199,932,811 - 9,964,360 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0195,327,251 - 5,393,587 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1196,252,300 - 6,281,016 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl196,252,300 - 6,281,016 (-)Ensemblpanpan1.1panPan2
ACER1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12053,819,224 - 53,838,183 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2053,819,074 - 53,838,438 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2053,566,184 - 53,584,788 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02054,473,745 - 54,491,643 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2054,473,658 - 54,491,842 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12053,540,193 - 53,558,067 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02053,988,319 - 54,007,142 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02054,218,116 - 54,237,024 (+)NCBIUU_Cfam_GSD_1.0
Acer1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118214,128,914 - 214,148,773 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365883,688,244 - 3,705,831 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365883,688,244 - 3,705,831 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ACER1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl272,743,643 - 72,769,570 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1272,704,603 - 72,767,474 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2273,283,294 - 73,331,148 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ACER1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.165,949,286 - 5,978,282 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660812,050,460 - 2,092,860 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Acer1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248284,041,875 - 4,045,675 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248284,022,288 - 4,046,235 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ACER1
23 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|See cases [RCV000052876] Chr19:265917..8564134 [GRCh38]
Chr19:265917..8629018 [GRCh37]
Chr19:216917..8535018 [NCBI36]
Chr19:19p13.3-13.2		 pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3 copy number gain See cases [RCV000052879] Chr19:1972245..9648879 [GRCh38]
Chr19:1972244..9759555 [GRCh37]
Chr19:1923244..9620555 [NCBI36]
Chr19:19p13.3-13.2		 pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:4039158-9176125)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]|See cases [RCV000052881] Chr19:4039158..9176125 [GRCh38]
Chr19:4039156..9286801 [GRCh37]
Chr19:3990156..9147801 [NCBI36]
Chr19:19p13.3-13.2		 pathogenic
GRCh38/hg38 19p13.3(chr19:4934885-6501642)x3 copy number gain See cases [RCV000052882] Chr19:4934885..6501642 [GRCh38]
Chr19:4934897..6501653 [GRCh37]
Chr19:4885897..6452653 [NCBI36]
Chr19:19p13.3		 pathogenic
NM_133492.2(ACER1):c.332C>T (p.Ser111Phe) single nucleotide variant Malignant melanoma [RCV000072411] Chr19:6312167 [GRCh38]
Chr19:6312178 [GRCh37]
Chr19:6263178 [NCBI36]
Chr19:19p13.3		 not provided
NM_133492.2(ACER1):c.53A>G (p.Asn18Ser) single nucleotide variant Malignant melanoma [RCV000072413] Chr19:6333499 [GRCh38]
Chr19:6333510 [GRCh37]
Chr19:6284510 [NCBI36]
Chr19:19p13.3		 not provided
GRCh38/hg38 19p13.3-13.2(chr19:5905175-6916287)x3 copy number gain See cases [RCV000139338] Chr19:5905175..6916287 [GRCh38]
Chr19:5905186..6916298 [GRCh37]
Chr19:5856186..6867298 [NCBI36]
Chr19:19p13.3-13.2		 uncertain significance
GRCh38/hg38 19p13.3(chr19:259395-6795611)x3 copy number gain See cases [RCV000142627] Chr19:259395..6795611 [GRCh38]
Chr19:259395..6795622 [GRCh37]
Chr19:210395..6746622 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3 copy number gain not provided [RCV000684096] Chr19:3120160..9732820 [GRCh37]
Chr19:19p13.3-13.2		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_133492.3(ACER1):c.663G>A (p.Met221Ile) single nucleotide variant not provided [RCV000959521] Chr19:6306846 [GRCh38]
Chr19:6306857 [GRCh37]
Chr19:19p13.3		 likely benign
NM_133492.3(ACER1):c.544G>A (p.Val182Ile) single nucleotide variant not provided [RCV000879732] Chr19:6307235 [GRCh38]
Chr19:6307246 [GRCh37]
Chr19:19p13.3		 benign
NM_133492.3(ACER1):c.734G>A (p.Arg245Gln) single nucleotide variant not specified [RCV004198893] Chr19:6306775 [GRCh38]
Chr19:6306786 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_133492.3(ACER1):c.110T>C (p.Phe37Ser) single nucleotide variant not specified [RCV004308224] Chr19:6312483 [GRCh38]
Chr19:6312494 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:6246138-6823741)x3 copy number gain not provided [RCV001007029] Chr19:6246138..6823741 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:5949772-6699729)x3 copy number gain not provided [RCV001007028] Chr19:5949772..6699729 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:6096399-6699729)x3 copy number gain not provided [RCV001259930] Chr19:6096399..6699729 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_133492.3(ACER1):c.341G>C (p.Gly114Ala) single nucleotide variant not specified [RCV004332807] Chr19:6312158 [GRCh38]
Chr19:6312169 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_133492.3(ACER1):c.715A>G (p.Lys239Glu) single nucleotide variant not specified [RCV004169939] Chr19:6306794 [GRCh38]
Chr19:6306805 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_133492.3(ACER1):c.251G>A (p.Gly84Asp) single nucleotide variant not specified [RCV004208744] Chr19:6312248 [GRCh38]
Chr19:6312259 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_133492.3(ACER1):c.351G>T (p.Arg117Ser) single nucleotide variant not specified [RCV004131568] Chr19:6309834 [GRCh38]
Chr19:6309845 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_133492.3(ACER1):c.365G>A (p.Arg122His) single nucleotide variant not specified [RCV004287444] Chr19:6309820 [GRCh38]
Chr19:6309831 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_133492.3(ACER1):c.115A>G (p.Ile39Val) single nucleotide variant not specified [RCV004310343] Chr19:6312478 [GRCh38]
Chr19:6312489 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_133492.3(ACER1):c.236C>T (p.Thr79Met) single nucleotide variant not specified [RCV004341866] Chr19:6312263 [GRCh38]
Chr19:6312274 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_133492.3(ACER1):c.571C>T (p.Arg191Cys) single nucleotide variant not specified [RCV004366112] Chr19:6307208 [GRCh38]
Chr19:6307219 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_133492.3(ACER1):c.434C>G (p.Ala145Gly) single nucleotide variant not specified [RCV004354523] Chr19:6309751 [GRCh38]
Chr19:6309762 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3 copy number gain not provided [RCV003485190] Chr19:260912..7246777 [GRCh37]
Chr19:19p13.3-13.2		 pathogenic
NM_133492.3(ACER1):c.572G>C (p.Arg191Pro) single nucleotide variant not specified [RCV004432261] Chr19:6307207 [GRCh38]
Chr19:6307218 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_133492.3(ACER1):c.427G>A (p.Ala143Thr) single nucleotide variant not specified [RCV004432259] Chr19:6309758 [GRCh38]
Chr19:6309769 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_133492.3(ACER1):c.772C>T (p.Arg258Trp) single nucleotide variant not specified [RCV004432270] Chr19:6306737 [GRCh38]
Chr19:6306748 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_133492.3(ACER1):c.661A>G (p.Met221Val) single nucleotide variant not specified [RCV004432264] Chr19:6306848 [GRCh38]
Chr19:6306859 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_5691310)_(8008536_?)dup duplication not provided [RCV004579685] Chr19:5691310..8008536 [GRCh37]
Chr19:19p13.3-13.2		 uncertain significance
NM_133492.3(ACER1):c.163C>T (p.Arg55Cys) single nucleotide variant not specified [RCV004602354] Chr19:6312430 [GRCh38]
Chr19:6312441 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_133492.3(ACER1):c.611A>G (p.Tyr204Cys) single nucleotide variant not specified [RCV004887172] Chr19:6307168 [GRCh38]
Chr19:6307179 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_133492.3(ACER1):c.412C>T (p.Arg138Trp) single nucleotide variant not specified [RCV004887187] Chr19:6309773 [GRCh38]
Chr19:6309784 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_133492.3(ACER1):c.181G>A (p.Val61Ile) single nucleotide variant not specified [RCV004887181] Chr19:6312412 [GRCh38]
Chr19:6312423 [GRCh37]
Chr19:19p13.3		 likely benign
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:356
Count of miRNA genes:300
Interacting mature miRNAs:313
Transcripts:ENST00000301452
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298499UAE1_HUrinary albumin excretion QTL 1 (human)2.730.0009Urinary albumin excretionurine albumin:creatinine ratio (ACR)19116075902Human
597439308GWAS1535382_Hperipheral arterial disease, traffic air pollution measurement QTL GWAS1535382 (human)0.000003peripheral arterial disease, traffic air pollution measurement1963404526340453Human
1643451SLIPL6_HSerum lipid level QTL 6 (human)2.190.0008Lipid level19116075902Human
1581534BP76_HBlood pressure QTL 76 (human)20.001Blood pressurepulse pressure19116075902Human
1581535BP65_HBlood pressure QTL 65 (human)3.10.001Blood pressurepulse pressure19116075902Human
2314591INSUL4_HInsulin level QTL 4 (human)3.80.000038Insulin levelfasting19116075902Human
1298476BP3_HBlood pressure QTL 3 (human)2.4Blood pressuresystolic19116075902Human


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1111 2165 2350 1825 4442 1520 2074 3 519 1515 368 2182 5748 5416 52 3240 700 1658 1441 164

Sequence


Ensembl Acc Id: ENST00000301452   ⟹   ENSP00000301452
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,306,142 - 6,333,612 (-)Ensembl
RefSeq Acc Id: NM_133492   ⟹   NP_597999
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38196,306,142 - 6,333,612 (-)NCBI
GRCh37196,306,510 - 6,333,640 (-)RGD
Build 36196,257,725 - 6,284,562 (-)NCBI Archive
Celera196,245,303 - 6,272,430 (-)RGD
HuRef196,065,539 - 6,093,294 (-)ENTREZGENE
CHM1_1196,306,127 - 6,333,277 (-)NCBI
T2T-CHM13v2.0196,294,362 - 6,322,526 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011527673   ⟹   XP_011525975
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38196,306,142 - 6,360,368 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054319747   ⟹   XP_054175722
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0196,294,362 - 6,349,269 (-)NCBI
RefSeq Acc Id: NP_597999   ⟸   NM_133492
- UniProtKB: Q8TDN7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011525975   ⟸   XM_011527673
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000301452   ⟸   ENST00000301452
RefSeq Acc Id: XP_054175722   ⟸   XM_054319747
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8TDN7-F1-model_v2 AlphaFold Q8TDN7 1-264 view protein structure

Promoters
RGD ID:7238201
Promoter ID:EPDNEW_H24846
Type:initiation region
Name:ACER1_1
Description:alkaline ceramidase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24848  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38196,333,593 - 6,333,653EPDNEW
RGD ID:7238207
Promoter ID:EPDNEW_H24848
Type:multiple initiation site
Name:ACER1_2
Description:alkaline ceramidase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24846  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38196,362,152 - 6,362,212EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18356 AgrOrtholog
COSMIC ACER1 COSMIC
Ensembl Genes ENSG00000167769 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000301452 ENTREZGENE
  ENST00000301452.5 UniProtKB/Swiss-Prot
GTEx ENSG00000167769 GTEx
HGNC ID HGNC:18356 ENTREZGENE
Human Proteome Map ACER1 Human Proteome Map
InterPro ACER UniProtKB/Swiss-Prot
KEGG Report hsa:125981 UniProtKB/Swiss-Prot
NCBI Gene ACER1 ENTREZGENE
OMIM 613491 OMIM
PANTHER ALKALINE CERAMIDASE 1 UniProtKB/Swiss-Prot
  PTHR46139 UniProtKB/Swiss-Prot
Pfam Ceramidase UniProtKB/Swiss-Prot
PharmGKB PA164714838 PharmGKB
UniProt ACER1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE