UniProtKB - Q9Y5Q0 (FADS3_HUMAN)
Fatty acid desaturase 3
FADS3
Functioni
Mammals have different sphingoid bases that differ in their length and/or pattern of desaturation and hydroxyl groups. The predominant sphingoid base in mammalian ceramides is sphing-4-enine (sphingosine or SPH) which has a trans desaturation at carbon 4. FADS3 is a ceramide desaturase that introduces a cis double bond between carbon 14 and carbon 15 of the SPH-containing ceramides, producing sphinga-4,14-dienine-containing ceramides (SPD ceramides). SPD ceramides occur widely in mammalian tissues and cells. Due to their unusual structure containing a cis double bond, SPD ceramides may have an opposite, negative role in lipid microdomain formation relative to conventional ceramides (PubMed:31916624).
FADS3 also acts as a methyl-end fatty acyl coenzyme A (CoA) desaturase that introduces a cis double bond between the preexisting double bond and the terminal methyl group of the fatty acyl chain. Desaturates (11E)-octadecenoate (trans-vaccenoate, the predominant trans fatty acid in human milk) at carbon 13 to generate (11E,13Z)-octadecadienoate (also known as conjugated linoleic acid 11E,13Z-CLA).
By similarity1 PublicationMiscellaneous
Catalytic activityi
- an N-acylsphing-4-enine + 2 Fe(II)-[cytochrome b5] + 2 H+ + O2 = an N-acyl-sphinga-4E,14Z-dienine + 2 Fe(III)-[cytochrome b5] + 2 H2O1 PublicationThis reaction proceeds in the forward1 Publication direction.
- 2 Fe(II)-[cytochrome b5] + 2 H+ + N-(hexanoyl)sphing-4-enine + O2 = 2 Fe(III)-[cytochrome b5] + 2 H2O + N-hexanoyl-sphinga-4E,14Z-dienine1 PublicationThis reaction proceeds in the forward1 Publication direction.
- (11E)-octadecenoyl-CoA + 2 Fe(II)-[cytochrome b5] + 2 H+ + O2 = (11E,13Z)-octadecadienoyl-CoA + 2 Fe(III)-[cytochrome b5] + 2 H2OBy similarityThis reaction proceeds in the forwardBy similarity direction.
: sphingolipid metabolism Pathwayi
This protein is involved in the pathway sphingolipid metabolism, which is part of Lipid metabolism.1 PublicationView all proteins of this organism that are known to be involved in the pathway sphingolipid metabolism and in Lipid metabolism.
Pathwayi: polyunsaturated fatty acid biosynthesis
This protein is involved in the pathway polyunsaturated fatty acid biosynthesis, which is part of Lipid metabolism.By similarityView all proteins of this organism that are known to be involved in the pathway polyunsaturated fatty acid biosynthesis and in Lipid metabolism.
GO - Molecular functioni
- oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water Source: GO_Central
GO - Biological processi
- lipid metabolic process Source: GO_Central
- sphingolipid metabolic process Source: UniProtKB-UniPathway
- unsaturated fatty acid biosynthetic process Source: UniProtKB
Keywordsi
Molecular function | Oxidoreductase |
Biological process | Electron transport, Fatty acid biosynthesis, Fatty acid metabolism, Lipid biosynthesis, Lipid metabolism, Transport |
Enzyme and pathway databases
BRENDAi | 1.14.19.30, 2681 |
PathwayCommonsi | Q9Y5Q0 |
SignaLinki | Q9Y5Q0 |
SIGNORi | Q9Y5Q0 |
UniPathwayi | UPA00222 UPA00658 |
Chemistry databases
SwissLipidsi | SLP:000000278 |
Names & Taxonomyi
Protein namesi | Recommended name: Fatty acid desaturase 3By similarity (EC:1.14.19.-1 Publication)Alternative name(s): Delta(13) fatty acid desaturaseBy similarity Short name: Delta(13) desaturaseBy similarity |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:3576, FADS3 |
MIMi | 606150, gene |
neXtProti | NX_Q9Y5Q0 |
VEuPathDBi | HostDB:ENSG00000221968 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum membrane 1 Publication; Multi-pass membrane protein Sequence analysis
Endoplasmic reticulum
- endoplasmic reticulum membrane Source: UniProtKB-SubCell
Other locations
- integral component of membrane Source: UniProtKB-KW
- membrane Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 133 | CytoplasmicCuratedAdd BLAST | 133 | |
Transmembranei | 134 – 154 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 155 – 159 | LumenalCurated | 5 | |
Transmembranei | 160 – 180 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 181 – 263 | CytoplasmicCuratedAdd BLAST | 83 | |
Transmembranei | 264 – 284 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 285 – 306 | LumenalCuratedAdd BLAST | 22 | |
Transmembranei | 307 – 327 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 328 – 445 | CytoplasmicCuratedAdd BLAST | 118 |
Keywords - Cellular componenti
Endoplasmic reticulum, MembranePathology & Biotechi
Organism-specific databases
DisGeNETi | 3995 |
OpenTargetsi | ENSG00000221968 |
PharmGKBi | PA27975 |
Miscellaneous databases
Pharosi | Q9Y5Q0, Tbio |
Genetic variation databases
BioMutai | FADS3 |
DMDMi | 74762790 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000307108 | 1 – 445 | Fatty acid desaturase 3Add BLAST | 445 |
Proteomic databases
EPDi | Q9Y5Q0 |
jPOSTi | Q9Y5Q0 |
MassIVEi | Q9Y5Q0 |
MaxQBi | Q9Y5Q0 |
PaxDbi | Q9Y5Q0 |
PeptideAtlasi | Q9Y5Q0 |
PRIDEi | Q9Y5Q0 |
ProteomicsDBi | 86470 |
PTM databases
iPTMneti | Q9Y5Q0 |
PhosphoSitePlusi | Q9Y5Q0 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000221968, Expressed in left coronary artery and 242 other tissues |
ExpressionAtlasi | Q9Y5Q0, baseline and differential |
Genevisiblei | Q9Y5Q0, HS |
Organism-specific databases
HPAi | ENSG00000221968, Low tissue specificity |
Interactioni
Binary interactionsi
Q9Y5Q0
With | #Exp. | IntAct |
---|---|---|
DHRSX [Q8N5I4] | 3 | EBI-17548630,EBI-3923585 |
Protein-protein interaction databases
BioGRIDi | 110182, 39 interactors |
IntActi | Q9Y5Q0, 19 interactors |
STRINGi | 9606.ENSP00000278829 |
Miscellaneous databases
RNActi | Q9Y5Q0, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 20 – 97 | Cytochrome b5 heme-bindingPROSITE-ProRule annotationAdd BLAST | 78 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 21 | DisorderedSequence analysisAdd BLAST | 21 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 182 – 186 | Histidine box-11 Publication | 5 | |
Motifi | 219 – 223 | Histidine box-21 Publication | 5 | |
Motifi | 383 – 387 | Histidine box-31 Publication | 5 |
Domaini
Sequence similaritiesi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG4232, Eukaryota |
GeneTreei | ENSGT00950000182990 |
InParanoidi | Q9Y5Q0 |
OMAi | WMHEAGH |
OrthoDBi | 1060606at2759 |
PhylomeDBi | Q9Y5Q0 |
TreeFami | TF313604 |
Family and domain databases
Gene3Di | 3.10.120.10, 1 hit |
InterProi | View protein in InterPro IPR001199, Cyt_B5-like_heme/steroid-bd IPR036400, Cyt_B5-like_heme/steroid_sf IPR005804, FA_desaturase_dom IPR012171, Fatty_acid_desaturase |
PANTHERi | PTHR19353, PTHR19353, 1 hit |
Pfami | View protein in Pfam PF00173, Cyt-b5, 1 hit PF00487, FA_desaturase, 1 hit |
PIRSFi | PIRSF015921, FA_sphinglp_des, 1 hit |
SMARTi | View protein in SMART SM01117, Cyt-b5, 1 hit |
SUPFAMi | SSF55856, SSF55856, 1 hit |
PROSITEi | View protein in PROSITE PS50255, CYTOCHROME_B5_2, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 6 potential isoforms that are computationally mapped.Show allAlign All
10 20 30 40 50
MGGVGEPGPR EGPAQPGAPL PTFCWEQIRA HDQPGDKWLV IERRVYDISR
60 70 80 90 100
WAQRHPGGSR LIGHHGAEDA TDAFRAFHQD LNFVRKFLQP LLIGELAPEE
110 120 130 140 150
PSQDGPLNAQ LVEDFRALHQ AAEDMKLFDA SPTFFAFLLG HILAMEVLAW
160 170 180 190 200
LLIYLLGPGW VPSALAAFIL AISQAQSWCL QHDLGHASIF KKSWWNHVAQ
210 220 230 240 250
KFVMGQLKGF SAHWWNFRHF QHHAKPNIFH KDPDVTVAPV FLLGESSVEY
260 270 280 290 300
GKKKRRYLPY NQQHLYFFLI GPPLLTLVNF EVENLAYMLV CMQWADLLWA
310 320 330 340 350
ASFYARFFLS YLPFYGVPGV LLFFVAVRVL ESHWFVWITQ MNHIPKEIGH
360 370 380 390 400
EKHRDWVSSQ LAATCNVEPS LFTNWFSGHL NFQIEHHLFP RMPRHNYSRV
410 420 430 440
APLVKSLCAK HGLSYEVKPF LTALVDIVRS LKKSGDIWLD AYLHQ
Computationally mapped potential isoform sequencesi
There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE9PS00 | E9PS00_HUMAN | Fatty acid desaturase 3 | FADS3 | 417 | Annotation score: | ||
E9PKP8 | E9PKP8_HUMAN | Fatty acid desaturase 3 | FADS3 | 330 | Annotation score: | ||
E9PQC2 | E9PQC2_HUMAN | Fatty acid desaturase 3 | FADS3 | 199 | Annotation score: | ||
E9PPZ4 | E9PPZ4_HUMAN | Fatty acid desaturase 3 | FADS3 | 188 | Annotation score: | ||
H0YED5 | H0YED5_HUMAN | Fatty acid desaturase 3 | FADS3 | 229 | Annotation score: | ||
H0YCN1 | H0YCN1_HUMAN | Fatty acid desaturase 3 | FADS3 | 116 | Annotation score: |
Sequence cautioni
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_035341 | 192 | K → N. Corresponds to variant dbSNP:rs35479241Ensembl. | 1 | |
Natural variantiVAR_035342 | 216 | N → K. Corresponds to variant dbSNP:rs34511441Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF084560 mRNA Translation: AAG23122.1 AF134404 mRNA Translation: AAD31282.1 AC004770 Genomic DNA Translation: AAC23396.1 Sequence problems. AP006260 Genomic DNA No translation available. BC004901 mRNA Translation: AAH04901.1 |
CCDSi | CCDS8013.1 |
RefSeqi | NP_068373.1, NM_021727.4 |
Genome annotation databases
Ensembli | ENST00000278829.7; ENSP00000278829.2; ENSG00000221968.9 |
GeneIDi | 3995 |
KEGGi | hsa:3995 |
MANE-Selecti | ENST00000278829.7; ENSP00000278829.2; NM_021727.5; NP_068373.1 |
UCSCi | uc001nsm.5, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF084560 mRNA Translation: AAG23122.1 AF134404 mRNA Translation: AAD31282.1 AC004770 Genomic DNA Translation: AAC23396.1 Sequence problems. AP006260 Genomic DNA No translation available. BC004901 mRNA Translation: AAH04901.1 |
CCDSi | CCDS8013.1 |
RefSeqi | NP_068373.1, NM_021727.4 |
3D structure databases
AlphaFoldDBi | Q9Y5Q0 |
SMRi | Q9Y5Q0 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 110182, 39 interactors |
IntActi | Q9Y5Q0, 19 interactors |
STRINGi | 9606.ENSP00000278829 |
Chemistry databases
SwissLipidsi | SLP:000000278 |
PTM databases
iPTMneti | Q9Y5Q0 |
PhosphoSitePlusi | Q9Y5Q0 |
Genetic variation databases
BioMutai | FADS3 |
DMDMi | 74762790 |
Proteomic databases
EPDi | Q9Y5Q0 |
jPOSTi | Q9Y5Q0 |
MassIVEi | Q9Y5Q0 |
MaxQBi | Q9Y5Q0 |
PaxDbi | Q9Y5Q0 |
PeptideAtlasi | Q9Y5Q0 |
PRIDEi | Q9Y5Q0 |
ProteomicsDBi | 86470 |
Protocols and materials databases
Antibodypediai | 28347, 154 antibodies from 22 providers |
DNASUi | 3995 |
Genome annotation databases
Ensembli | ENST00000278829.7; ENSP00000278829.2; ENSG00000221968.9 |
GeneIDi | 3995 |
KEGGi | hsa:3995 |
MANE-Selecti | ENST00000278829.7; ENSP00000278829.2; NM_021727.5; NP_068373.1 |
UCSCi | uc001nsm.5, human |
Organism-specific databases
CTDi | 3995 |
DisGeNETi | 3995 |
GeneCardsi | FADS3 |
HGNCi | HGNC:3576, FADS3 |
HPAi | ENSG00000221968, Low tissue specificity |
MIMi | 606150, gene |
neXtProti | NX_Q9Y5Q0 |
OpenTargetsi | ENSG00000221968 |
PharmGKBi | PA27975 |
VEuPathDBi | HostDB:ENSG00000221968 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4232, Eukaryota |
GeneTreei | ENSGT00950000182990 |
InParanoidi | Q9Y5Q0 |
OMAi | WMHEAGH |
OrthoDBi | 1060606at2759 |
PhylomeDBi | Q9Y5Q0 |
TreeFami | TF313604 |
Enzyme and pathway databases
UniPathwayi | UPA00222 UPA00658 |
BRENDAi | 1.14.19.30, 2681 |
PathwayCommonsi | Q9Y5Q0 |
SignaLinki | Q9Y5Q0 |
SIGNORi | Q9Y5Q0 |
Miscellaneous databases
BioGRID-ORCSi | 3995, 9 hits in 1075 CRISPR screens |
ChiTaRSi | FADS3, human |
GenomeRNAii | 3995 |
Pharosi | Q9Y5Q0, Tbio |
PROi | PR:Q9Y5Q0 |
RNActi | Q9Y5Q0, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000221968, Expressed in left coronary artery and 242 other tissues |
ExpressionAtlasi | Q9Y5Q0, baseline and differential |
Genevisiblei | Q9Y5Q0, HS |
Family and domain databases
Gene3Di | 3.10.120.10, 1 hit |
InterProi | View protein in InterPro IPR001199, Cyt_B5-like_heme/steroid-bd IPR036400, Cyt_B5-like_heme/steroid_sf IPR005804, FA_desaturase_dom IPR012171, Fatty_acid_desaturase |
PANTHERi | PTHR19353, PTHR19353, 1 hit |
Pfami | View protein in Pfam PF00173, Cyt-b5, 1 hit PF00487, FA_desaturase, 1 hit |
PIRSFi | PIRSF015921, FA_sphinglp_des, 1 hit |
SMARTi | View protein in SMART SM01117, Cyt-b5, 1 hit |
SUPFAMi | SSF55856, SSF55856, 1 hit |
PROSITEi | View protein in PROSITE PS50255, CYTOCHROME_B5_2, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | FADS3_HUMAN | |
Accessioni | Q9Y5Q0Primary (citable) accession number: Q9Y5Q0 Secondary accession number(s): O60426 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 2, 2007 |
Last sequence update: | November 1, 1999 | |
Last modified: | May 25, 2022 | |
This is version 153 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - SIMILARITY comments
Index of protein domains and families