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Protein

Fatty acid desaturase 3

Gene

FADS3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

GO - Molecular functioni

GO - Biological processi

  • unsaturated fatty acid biosynthetic process Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Biological processi

Electron transport, Fatty acid biosynthesis, Fatty acid metabolism, Lipid biosynthesis, Lipid metabolism, Transport

Names & Taxonomyi

Protein namesi
Recommended name:
Fatty acid desaturase 3 (EC:1.14.19.-)
Alternative name(s):
Cytochrome b5-related protein
Gene namesi
Name:FADS3
Synonyms:CYB5RP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:3576. FADS3.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 133CytoplasmicSequence analysisAdd BLAST133
Transmembranei134 – 154HelicalSequence analysisAdd BLAST21
Topological domaini155 – 159LumenalSequence analysis5
Transmembranei160 – 180HelicalSequence analysisAdd BLAST21
Topological domaini181 – 263CytoplasmicSequence analysisAdd BLAST83
Transmembranei264 – 284HelicalSequence analysisAdd BLAST21
Topological domaini285 – 306LumenalSequence analysisAdd BLAST22
Transmembranei307 – 327HelicalSequence analysisAdd BLAST21
Topological domaini328 – 445CytoplasmicSequence analysisAdd BLAST118

GO - Cellular componenti

  • endoplasmic reticulum membrane Source: UniProtKB-SubCell
  • integral component of membrane Source: UniProtKB-KW
  • membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi3995.
OpenTargetsiENSG00000221968.
PharmGKBiPA27975.

Polymorphism and mutation databases

DMDMi74762790.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003071081 – 445Fatty acid desaturase 3Add BLAST445

Proteomic databases

EPDiQ9Y5Q0.
MaxQBiQ9Y5Q0.
PaxDbiQ9Y5Q0.
PeptideAtlasiQ9Y5Q0.
PRIDEiQ9Y5Q0.

PTM databases

iPTMnetiQ9Y5Q0.
PhosphoSitePlusiQ9Y5Q0.

Expressioni

Tissue specificityi

Has been found in heart, liver, lung, uterus, and brainstem.1 Publication

Gene expression databases

BgeeiENSG00000221968.
CleanExiHS_FADS3.
ExpressionAtlasiQ9Y5Q0. baseline and differential.
GenevisibleiQ9Y5Q0. HS.

Organism-specific databases

HPAiHPA045224.

Interactioni

Protein-protein interaction databases

BioGridi110182. 17 interactors.
STRINGi9606.ENSP00000278829.

Structurei

3D structure databases

ProteinModelPortaliQ9Y5Q0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini20 – 97Cytochrome b5 heme-bindingPROSITE-ProRule annotationAdd BLAST78

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi182 – 186Histidine box-15
Motifi219 – 223Histidine box-25
Motifi383 – 387Histidine box-35

Domaini

The histidine box domains may contain the active site and/or be involved in metal ion binding.

Sequence similaritiesi

Contains 1 cytochrome b5 heme-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4232. Eukaryota.
ENOG410XVSZ. LUCA.
GeneTreeiENSGT00510000046574.
HOGENOMiHOG000012997.
HOVERGENiHBG002839.
InParanoidiQ9Y5Q0.
KOiK10225.
OMAiPSLFIDW.
OrthoDBiEOG091G0E0W.
PhylomeDBiQ9Y5Q0.
TreeFamiTF313604.

Family and domain databases

Gene3Di3.10.120.10. 1 hit.
InterProiIPR001199. Cyt_B5-like_heme/steroid-bd.
IPR005804. FA_desaturase_dom.
IPR012171. Fatty_acid_desaturase.
[Graphical view]
PfamiPF00173. Cyt-b5. 1 hit.
PF00487. FA_desaturase. 1 hit.
[Graphical view]
PIRSFiPIRSF015921. FA_sphinglp_des. 1 hit.
SMARTiSM01117. Cyt-b5. 1 hit.
[Graphical view]
SUPFAMiSSF55856. SSF55856. 1 hit.
PROSITEiPS50255. CYTOCHROME_B5_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9Y5Q0-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:445
Mass (Da):51,145
Last modified:November 1, 1999 - v1
Checksum:i7840EF6BE055111D
GO

Sequence cautioni

The sequence AAC23396 differs from that shown. Reason: Erroneous gene model prediction.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_035341192K → N.Corresponds to variant rs35479241dbSNPEnsembl.1
Natural variantiVAR_035342216N → K.Corresponds to variant rs34511441dbSNPEnsembl.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.
CCDSiCCDS8013.1.
RefSeqiNP_068373.1. NM_021727.4.
UniGeneiHs.21765.

Genome annotation databases

EnsembliENST00000278829; ENSP00000278829; ENSG00000221968.
GeneIDi3995.
KEGGihsa:3995.
UCSCiuc001nsm.5. human.

Keywords - Coding sequence diversityi

Polymorphism

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.
CCDSiCCDS8013.1.
RefSeqiNP_068373.1. NM_021727.4.
UniGeneiHs.21765.

3D structure databases

ProteinModelPortaliQ9Y5Q0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110182. 17 interactors.
STRINGi9606.ENSP00000278829.

PTM databases

iPTMnetiQ9Y5Q0.
PhosphoSitePlusiQ9Y5Q0.

Polymorphism and mutation databases

DMDMi74762790.

Proteomic databases

EPDiQ9Y5Q0.
MaxQBiQ9Y5Q0.
PaxDbiQ9Y5Q0.
PeptideAtlasiQ9Y5Q0.
PRIDEiQ9Y5Q0.

Protocols and materials databases

DNASUi3995.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000278829; ENSP00000278829; ENSG00000221968.
GeneIDi3995.
KEGGihsa:3995.
UCSCiuc001nsm.5. human.

Organism-specific databases

CTDi3995.
DisGeNETi3995.
GeneCardsiFADS3.
HGNCiHGNC:3576. FADS3.
HPAiHPA045224.
MIMi606150. gene.
neXtProtiNX_Q9Y5Q0.
OpenTargetsiENSG00000221968.
PharmGKBiPA27975.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4232. Eukaryota.
ENOG410XVSZ. LUCA.
GeneTreeiENSGT00510000046574.
HOGENOMiHOG000012997.
HOVERGENiHBG002839.
InParanoidiQ9Y5Q0.
KOiK10225.
OMAiPSLFIDW.
OrthoDBiEOG091G0E0W.
PhylomeDBiQ9Y5Q0.
TreeFamiTF313604.

Miscellaneous databases

ChiTaRSiFADS3. human.
GenomeRNAii3995.
PROiQ9Y5Q0.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000221968.
CleanExiHS_FADS3.
ExpressionAtlasiQ9Y5Q0. baseline and differential.
GenevisibleiQ9Y5Q0. HS.

Family and domain databases

Gene3Di3.10.120.10. 1 hit.
InterProiIPR001199. Cyt_B5-like_heme/steroid-bd.
IPR005804. FA_desaturase_dom.
IPR012171. Fatty_acid_desaturase.
[Graphical view]
PfamiPF00173. Cyt-b5. 1 hit.
PF00487. FA_desaturase. 1 hit.
[Graphical view]
PIRSFiPIRSF015921. FA_sphinglp_des. 1 hit.
SMARTiSM01117. Cyt-b5. 1 hit.
[Graphical view]
SUPFAMiSSF55856. SSF55856. 1 hit.
PROSITEiPS50255. CYTOCHROME_B5_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiFADS3_HUMAN
AccessioniPrimary (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: November 30, 2016
This is version 125 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.