Q9Y5Q0 (FADS3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Fatty acid desaturase 3
EC=1.14.19.-

Alternative name(s):
Cytochrome b5-related protein

Gene names

Name:	FADS3
Synonyms:	CYB5RP

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	445 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Subcellular location	Endoplasmic reticulum membrane; Multi-pass membrane protein By similarity.
Tissue specificity	Has been found in heart, liver, lung, uterus, and brainstem. Ref.1
Domain	The histidine box domains may contain the active site and/or be involved in metal ion binding.
Sequence similarities	Belongs to the fatty acid desaturase family. Contains 1 cytochrome b5 heme-binding domain.
Sequence caution	The sequence AAC23396.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
Biological process	Electron transport Fatty acid biosynthesis Lipid synthesis Transport
Cellular component	Endoplasmic reticulum Membrane
Coding sequence diversity	Polymorphism
Domain	Transmembrane Transmembrane helix
Molecular function	Oxidoreductase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	electron transport chain Inferred from electronic annotation. Source: UniProtKB-KW transport Inferred from electronic annotation. Source: UniProtKB-KW unsaturated fatty acid biosynthetic process Non-traceable author statement Ref.1. Source: UniProtKB
Cellular component	endoplasmic reticulum membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW membrane fraction Non-traceable author statement Ref.1. Source: UniProtKB
Molecular function	heme binding Inferred from electronic annotation. Source: InterPro 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 Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 445	445	Fatty acid desaturase 3		PRO_0000307108
Regions
	Topological domain	1 – 133	133	Cytoplasmic Potential
	Transmembrane	134 – 154	21	Helical; Potential
	Topological domain	155 – 159	5	Lumenal Potential
	Transmembrane	160 – 180	21	Helical; Potential
	Topological domain	181 – 263	83	Cytoplasmic Potential
	Transmembrane	264 – 284	21	Helical; Potential
	Topological domain	285 – 306	22	Lumenal Potential
	Transmembrane	307 – 327	21	Helical; Potential
	Topological domain	328 – 445	118	Cytoplasmic Potential
	Domain	20 – 97	78	Cytochrome b5 heme-binding
	Motif	182 – 186	5	Histidine box-1
	Motif	219 – 223	5	Histidine box-2
	Motif	383 – 387	5	Histidine box-3
Natural variations
	Natural variant	192	1	K → N. Corresponds to variant rs35479241 [ dbSNP | Ensembl ].		VAR_035341
	Natural variant	216	1	N → K. Corresponds to variant rs34511441 [ dbSNP | Ensembl ].		VAR_035342

Sequences

	Sequence		Length	Mass (Da)
	Q9Y5Q0 [UniParc]. Last modified November 1, 1999. Version 1. Checksum: 7840EF6BE055111D	FASTA	445	51,145
	10 20 30 40 50 60 MGGVGEPGPR EGPAQPGAPL PTFCWEQIRA HDQPGDKWLV IERRVYDISR WAQRHPGGSR 70 80 90 100 110 120 LIGHHGAEDA TDAFRAFHQD LNFVRKFLQP LLIGELAPEE PSQDGPLNAQ LVEDFRALHQ 130 140 150 160 170 180 AAEDMKLFDA SPTFFAFLLG HILAMEVLAW LLIYLLGPGW VPSALAAFIL AISQAQSWCL 190 200 210 220 230 240 QHDLGHASIF KKSWWNHVAQ KFVMGQLKGF SAHWWNFRHF QHHAKPNIFH KDPDVTVAPV 250 260 270 280 290 300 FLLGESSVEY GKKKRRYLPY NQQHLYFFLI GPPLLTLVNF EVENLAYMLV CMQWADLLWA 310 320 330 340 350 360 ASFYARFFLS YLPFYGVPGV LLFFVAVRVL ESHWFVWITQ MNHIPKEIGH EKHRDWVSSQ 370 380 390 400 410 420 LAATCNVEPS LFTNWFSGHL NFQIEHHLFP RMPRHNYSRV APLVKSLCAK HGLSYEVKPF 430 440 LTALVDIVRS LKKSGDIWLD AYLHQ

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"cDNA cloning, genomic structure, and chromosomal localization of three members of the human fatty acid desaturase family." Marquardt A., Stoehr H., White K., Weber B.H. Genomics 66:175-183(2000) [PubMed: 10860662] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
[2]	"Human retina-specific delta 6 fatty acid desaturase." Li W., Metzker M.L., Caskey C.T., Petrukhin K. Submitted (MAR-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[3]	"Human chromosome 11 DNA sequence and analysis including novel gene identification." Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y. Nature 440:497-500(2006) [PubMed: 16554811] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Muscle.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00028040.
RefSeq	NP_068373.1. NM_021727.3.
UniGene	Hs.21765.
3D structure databases
HSSP	HSSP built from PDB template 1CXY based on UniProtKB P82291.
ProteinModelPortal	Q9Y5Q0.
SMR	Q9Y5Q0. Positions 19-96.
ModBase	Search...
Protein-protein interaction databases
STRING	Q9Y5Q0.
Polymorphism databases
DMDM	74762790.
Proteomic databases
PRIDE	Q9Y5Q0.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000278829; ENSP00000278829; ENSG00000221968.
GeneID	3995.
KEGG	hsa:3995.
UCSC	uc001nsm.1. human.
Organism-specific databases
CTD	3995.
GeneCards	GC11M061640.
H-InvDB	HIX0079272.
HGNC	HGNC:3576. FADS3.
HPA	HPA045224.
MIM	606150. gene.
neXtProt	NX_Q9Y5Q0.
PharmGKB	PA27975.
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00510000046574.
HOGENOM	HBG283658.
HOVERGEN	HBG002839.
InParanoid	Q9Y5Q0.
OMA	WTDLLWA.
OrthoDB	EOG4G7BZ9.
PhylomeDB	Q9Y5Q0.
Gene expression databases
ArrayExpress	Q9Y5Q0.
Bgee	Q9Y5Q0.
CleanEx	HS_FADS3.
Genevestigator	Q9Y5Q0.
Family and domain databases
InterPro	IPR001199. Cyt_B5. IPR012171. Fatty_acid/sphinglp_desaturase. IPR005804. Fatty_acid_desaturase-1. [Graphical view]
Gene3D	G3DSA:3.10.120.10. Cyt_B5. 1 hit.
KO	K10225.
Pfam	PF00173. Cyt-b5. 1 hit. PF00487. FA_desaturase. 1 hit. [Graphical view]
PIRSF	PIRSF015921. FA_sphinglp_des. 1 hit.
SUPFAM	SSF55856. Cyt_B5. 1 hit.
PROSITE	PS00191. CYTOCHROME_B5_1. False negative. PS50255. CYTOCHROME_B5_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	15678.
SOURCE	Search...

Entry information

Entry name

FADS3_HUMAN

Accession

Primary (citable) accession number: Q9Y5Q0
Secondary accession number(s): O60426

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 2, 2007
Last sequence update:	November 1, 1999
Last modified:	January 25, 2012
This is version 86 of the entry and version 1 of the sequence. [Complete history]

Entry status

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.