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Protein

Fatty acid desaturase 3

Gene

FADS3

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

Functioni

GO - Molecular functioni

GO - Biological processi

  • unsaturated fatty acid biosynthetic process Source: UniProtKB

Keywordsi

Molecular functionOxidoreductase
Biological processElectron 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

EuPathDBiHostDB:ENSG00000221968.8
HGNCiHGNC:3576 FADS3
MIMi606150 gene
neXtProtiNX_Q9Y5Q0

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

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
ProteomicsDBi86470

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
IntActiQ9Y5Q0, 1 interactor
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

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
InterProiView 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
PfamiView protein in Pfam
PF00173 Cyt-b5, 1 hit
PF00487 FA_desaturase, 1 hit
PIRSFiPIRSF015921 FA_sphinglp_des, 1 hit
SMARTiView protein in SMART
SM01117 Cyt-b5, 1 hit
SUPFAMiSSF55856 SSF55856, 1 hit
PROSITEiView protein in PROSITE
PS50255 CYTOCHROME_B5_2, 1 hit

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 dbSNP:rs35479241Ensembl.1
Natural variantiVAR_035342216N → 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
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

Similar proteinsi

Entry informationi

Entry nameiFADS3_HUMAN
AccessioniPrimary (citable) accession number: Q9Y5Q0
Secondary accession number(s): O60426
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: November 1, 1999
Last modified: July 18, 2018
This is version 131 of the entry and version 1 of the sequence. See 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

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