ELOVL3 (ELOVL fatty acid elongase 3) - Rat Genome Database
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Gene: ELOVL3 (ELOVL fatty acid elongase 3) Homo sapiens
Analyze
Symbol: ELOVL3
Name: ELOVL fatty acid elongase 3
RGD ID: 1316352
HGNC Page HGNC
Description: Predicted to have fatty acid elongase activity. Involved in fatty acid biosynthetic process. Localizes to endoplasmic reticulum.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 3-keto acyl-CoA synthase ELOVL3; CIG-30; CIG30; cold-inducible glycoprotein of 30 kDa; elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3; elongation of very long chain fatty acids protein 3; ELOVL FA elongase 3; MGC21435; very long chain 3-ketoacyl-CoA synthase 3; very long chain 3-oxoacyl-CoA synthase 3; very-long-chain 3-oxoacyl-CoA synthase 3
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 Ensembl10102,226,299 - 102,229,589 (+)EnsemblGRCh38hg38GRCh38
GRCh3810102,224,767 - 102,229,589 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3710103,986,056 - 103,989,346 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3610103,976,133 - 103,979,336 (+)NCBINCBI36hg18NCBI36
Build 3410103,976,132 - 103,979,332NCBI
Celera1097,727,066 - 97,730,269 (+)NCBI
Cytogenetic Map10q24.32NCBI
HuRef1097,618,434 - 97,621,637 (+)NCBIHuRef
CHM1_110104,269,548 - 104,272,859 (+)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

References

References - curated
1. GOA_HUMAN data from the GO Consortium
2. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8944226   PMID:10429212   PMID:10970790   PMID:12477932   PMID:14581464   PMID:15489334   PMID:16326704   PMID:17207965   PMID:17583696   PMID:20937905   PMID:21873635   PMID:21988832  
PMID:29987050   PMID:31154107  


Genomics

Comparative Map Data
ELOVL3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl10102,226,299 - 102,229,589 (+)EnsemblGRCh38hg38GRCh38
GRCh3810102,224,767 - 102,229,589 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3710103,986,056 - 103,989,346 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3610103,976,133 - 103,979,336 (+)NCBINCBI36hg18NCBI36
Build 3410103,976,132 - 103,979,332NCBI
Celera1097,727,066 - 97,730,269 (+)NCBI
Cytogenetic Map10q24.32NCBI
HuRef1097,618,434 - 97,621,637 (+)NCBIHuRef
CHM1_110104,269,548 - 104,272,859 (+)NCBICHM1_1
Elovl3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391946,120,336 - 46,124,133 (+)NCBIGRCm39mm39
GRCm39 Ensembl1946,120,336 - 46,124,133 (+)Ensembl
GRCm381946,131,897 - 46,135,694 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1946,131,897 - 46,135,694 (+)EnsemblGRCm38mm10GRCm38
MGSCv371946,206,389 - 46,210,184 (+)NCBIGRCm37mm9NCBIm37
MGSCv361946,185,210 - 46,189,005 (+)NCBImm8
Celera1946,895,708 - 46,899,495 (+)NCBICelera
Cytogenetic Map19C3NCBI
cM Map1938.75NCBI
Elovl3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21244,997,287 - 245,001,115 (+)NCBI
Rnor_6.0 Ensembl1265,883,355 - 265,887,226 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01265,883,353 - 265,887,181 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01273,313,712 - 273,317,540 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41251,351,908 - 251,355,736 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11251,612,505 - 251,615,901 (+)NCBI
Celera1240,780,618 - 240,784,446 (+)NCBICelera
Cytogenetic Map1q54NCBI
Elovl3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554858,142,081 - 8,144,286 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554858,141,818 - 8,144,458 (-)NCBIChiLan1.0ChiLan1.0
ELOVL3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.110102,297,291 - 102,300,601 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl10102,297,291 - 102,300,594 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01098,788,505 - 98,833,146 (+)NCBIMhudiblu_PPA_v0panPan3
ELOVL3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12814,756,019 - 14,759,893 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2814,756,653 - 14,759,580 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2814,928,412 - 14,932,460 (+)NCBI
ROS_Cfam_1.02815,229,782 - 15,233,833 (+)NCBI
UMICH_Zoey_3.12814,774,899 - 14,778,950 (+)NCBI
UNSW_CanFamBas_1.02814,814,056 - 14,818,104 (+)NCBI
UU_Cfam_GSD_1.02814,946,816 - 14,950,866 (+)NCBI
Elovl3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_ltri_2NW_02440721332,016,309 - 32,020,340 (-)NCBI
SpeTri2.0NW_0049366003,619,549 - 3,623,495 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ELOVL3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl14113,226,621 - 113,230,208 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.114113,226,589 - 113,230,038 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.214123,080,520 - 123,083,970 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ELOVL3
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1995,260,674 - 95,265,682 (+)NCBI
ChlSab1.1 Ensembl995,262,342 - 95,265,350 (+)Ensembl
Elovl3
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248311,646,319 - 1,649,435 (+)NCBI

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:232
Count of miRNA genes:215
Interacting mature miRNAs:222
Transcripts:ENST00000370005
Prediction methods:Miranda, Rnahybrid, Targetscan
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 12 5 5 3 10 3 443 4 3 3 76 14 1 56 159
Low 506 744 314 72 907 44 1940 312 1239 131 748 821 38 1 1063 870 3
Below cutoff 1747 1924 1068 358 724 240 1770 1692 2299 243 569 629 121 84 1569 2 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000370005   ⟹   ENSP00000359022
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl10102,226,299 - 102,229,589 (+)Ensembl
RefSeq Acc Id: NM_152310   ⟹   NP_689523
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,226,299 - 102,229,589 (+)NCBI
GRCh3710103,986,143 - 103,989,346 (+)RGD
Build 3610103,976,133 - 103,979,336 (+)NCBI Archive
Celera1097,727,066 - 97,730,269 (+)RGD
HuRef1097,618,326 - 97,621,637 (+)NCBI
CHM1_110104,269,548 - 104,272,859 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011540245   ⟹   XP_011538547
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,224,767 - 102,229,589 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_689523 (Get FASTA)   NCBI Sequence Viewer  
  XP_011538547 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAG17875 (Get FASTA)   NCBI Sequence Viewer  
  AAH34344 (Get FASTA)   NCBI Sequence Viewer  
  EAW49711 (Get FASTA)   NCBI Sequence Viewer  
  Q9HB03 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_689523   ⟸   NM_152310
- UniProtKB: Q9HB03 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011538547   ⟸   XM_011540245
- Peptide Label: isoform X1
- UniProtKB: Q9HB03 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000359022   ⟸   ENST00000370005

Promoters
RGD ID:7218505
Promoter ID:EPDNEW_H14997
Type:initiation region
Name:ELOVL3_1
Description:ELOVL fatty acid elongase 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,226,299 - 102,226,359EPDNEW
RGD ID:6787528
Promoter ID:HG_KWN:10968
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000050030
Position:
Human AssemblyChrPosition (strand)Source
Build 3610103,975,786 - 103,976,286 (+)MPROMDB
RGD ID:6814465
Promoter ID:HG_XEF:1090
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:NM_001107602,   NM_007703
Position:
Human AssemblyChrPosition (strand)Source
Build 3610103,976,631 - 103,977,131 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3 copy number gain See cases [RCV000050747] Chr10:95112607..116776637 [GRCh38]
Chr10:96872364..118383651 [GRCh37]
Chr10:96862354..118526138 [NCBI36]
Chr10:10q23.33-25.3		 pathogenic
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] Chr10:91048545..133620674 [GRCh38]
Chr10:92808302..135434178 [GRCh37]
Chr10:92798282..135284168 [NCBI36]
Chr10:10q23.31-26.3		 pathogenic
GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3 copy number gain See cases [RCV000053564] Chr10:100194215..132432797 [GRCh38]
Chr10:101953972..134246301 [GRCh37]
Chr10:101943962..134096291 [NCBI36]
Chr10:10q24.31-26.3		 pathogenic
GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3 copy number gain See cases [RCV000137747] Chr10:100600492..133622588 [GRCh38]
Chr10:102360249..135436092 [GRCh37]
Chr10:102350239..135286082 [NCBI36]
Chr10:10q24.31-26.3		 pathogenic
GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3 copy number gain See cases [RCV000240457] Chr10:103288313..135512075 [GRCh37]
Chr10:10q24.32-26.3		 pathogenic
GRCh37/hg19 10q24.2-26.3(chr10:100780957-135427143)x3 copy number gain See cases [RCV000446733] Chr10:100780957..135427143 [GRCh37]
Chr10:10q24.2-26.3		 pathogenic
GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1 copy number loss PARP Inhibitor response [RCV000431909] Chr10:85557432..105804295 [GRCh37]
Chr10:10q23.1-25.1		 pathogenic|drug response
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 copy number gain See cases [RCV000510972] Chr10:93283493..135427143 [GRCh37]
Chr10:10q23.32-26.3		 pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss PARP Inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3		 drug response
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3 copy number gain not provided [RCV000683291] Chr10:94346520..135427143 [GRCh37]
Chr10:10q23.33-26.3		 pathogenic
GRCh37/hg19 10q24.32-24.33(chr10:103891057-105339973)x1 copy number loss not provided [RCV000683260] Chr10:103891057..105339973 [GRCh37]
Chr10:10q24.32-24.33		 likely pathogenic
GRCh37/hg19 10q24.32(chr10:103984060-103999784)x3 copy number gain not provided [RCV000737290] Chr10:103984060..103999784 [GRCh37]
Chr10:10q24.32		 benign
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18047 AgrOrtholog
COSMIC ELOVL3 COSMIC
Ensembl Genes ENSG00000119915 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000359022 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000370005 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000119915 GTEx
HGNC ID HGNC:18047 ENTREZGENE
Human Proteome Map ELOVL3 Human Proteome Map
InterPro ELO_CS UniProtKB/Swiss-Prot
  ELO_fam UniProtKB/Swiss-Prot
  ELOVL3 UniProtKB/Swiss-Prot
KEGG Report hsa:83401 UniProtKB/Swiss-Prot
NCBI Gene 83401 ENTREZGENE
OMIM 611815 OMIM
PANTHER PTHR11157 UniProtKB/Swiss-Prot
  PTHR11157:SF68 UniProtKB/Swiss-Prot
Pfam ELO UniProtKB/Swiss-Prot
PharmGKB PA27762 PharmGKB
PROSITE ELO UniProtKB/Swiss-Prot
UniProt ELOV3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q5VZL3 UniProtKB/Swiss-Prot
  Q8N180 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-09-01 ELOVL3  ELOVL fatty acid elongase 3  ELOVL3  ELOVL fatty acid elongase 3  Symbol and/or name change 5135510 APPROVED
2011-07-27 ELOVL3  ELOVL fatty acid elongase 3  ELOVL3  elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3  Symbol and/or name change 5135510 APPROVED