Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	3995
Gene name	Fatty acid desaturase 3
Gene symbol	FADS3
Synonyms (NCBI Gene)	CYB5RPLLCDL3
Chromosome	11
Chromosome location	11q12.2
Summary	The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family mem

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miRTarBase ID	miRNA	Experiments	Reference
MIRT027418	hsa-miR-98-5p	Microarray	19088304
MIRT715975	hsa-miR-1226-3p	HITS-CLIP	19536157
MIRT715974	hsa-miR-4733-3p	HITS-CLIP	19536157
MIRT715973	hsa-miR-499b-5p	HITS-CLIP	19536157
MIRT715972	hsa-miR-211-3p	HITS-CLIP	19536157
MIRT715971	hsa-miR-4270	HITS-CLIP	19536157
MIRT715970	hsa-miR-4441	HITS-CLIP	19536157
MIRT715969	hsa-miR-6754-5p	HITS-CLIP	19536157
MIRT715968	hsa-miR-4778-3p	HITS-CLIP	19536157
MIRT715967	hsa-miR-6505-3p	HITS-CLIP	19536157
MIRT715966	hsa-miR-6879-3p	HITS-CLIP	19536157
MIRT715965	hsa-miR-3127-5p	HITS-CLIP	19536157
MIRT715975	hsa-miR-1226-3p	HITS-CLIP	19536157
MIRT715974	hsa-miR-4733-3p	HITS-CLIP	19536157
MIRT715973	hsa-miR-499b-5p	HITS-CLIP	19536157
MIRT715972	hsa-miR-211-3p	HITS-CLIP	19536157
MIRT715971	hsa-miR-4270	HITS-CLIP	19536157
MIRT715970	hsa-miR-4441	HITS-CLIP	19536157
MIRT715969	hsa-miR-6754-5p	HITS-CLIP	19536157
MIRT715968	hsa-miR-4778-3p	HITS-CLIP	19536157
MIRT715967	hsa-miR-6505-3p	HITS-CLIP	19536157
MIRT715966	hsa-miR-6879-3p	HITS-CLIP	19536157
MIRT715965	hsa-miR-3127-5p	HITS-CLIP	19536157
MIRT715975	hsa-miR-1226-3p	HITS-CLIP	19536157
MIRT715974	hsa-miR-4733-3p	HITS-CLIP	19536157
MIRT715973	hsa-miR-499b-5p	HITS-CLIP	19536157
MIRT715972	hsa-miR-211-3p	HITS-CLIP	19536157
MIRT715971	hsa-miR-4270	HITS-CLIP	19536157
MIRT715970	hsa-miR-4441	HITS-CLIP	19536157
MIRT715969	hsa-miR-6754-5p	HITS-CLIP	19536157
MIRT715968	hsa-miR-4778-3p	HITS-CLIP	19536157
MIRT715967	hsa-miR-6505-3p	HITS-CLIP	19536157
MIRT715966	hsa-miR-6879-3p	HITS-CLIP	19536157
MIRT715965	hsa-miR-3127-5p	HITS-CLIP	19536157
MIRT715975	hsa-miR-1226-3p	HITS-CLIP	19536157
MIRT715974	hsa-miR-4733-3p	HITS-CLIP	19536157
MIRT715973	hsa-miR-499b-5p	HITS-CLIP	19536157
MIRT715972	hsa-miR-211-3p	HITS-CLIP	19536157
MIRT715971	hsa-miR-4270	HITS-CLIP	19536157
MIRT715970	hsa-miR-4441	HITS-CLIP	19536157
MIRT715969	hsa-miR-6754-5p	HITS-CLIP	19536157
MIRT715968	hsa-miR-4778-3p	HITS-CLIP	19536157
MIRT715967	hsa-miR-6505-3p	HITS-CLIP	19536157
MIRT715966	hsa-miR-6879-3p	HITS-CLIP	19536157
MIRT715965	hsa-miR-3127-5p	HITS-CLIP	19536157
MIRT975078	hsa-miR-1178	CLIP-seq
MIRT975079	hsa-miR-4496	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0006629	Process	Lipid metabolic process	IBA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006633	Process	Fatty acid biosynthetic process	IEA
GO:0006636	Process	Unsaturated fatty acid biosynthetic process	IEA
GO:0006636	Process	Unsaturated fatty acid biosynthetic process	IEA
GO:0006636	Process	Unsaturated fatty acid biosynthetic process	NAS	10860662
GO:0006665	Process	Sphingolipid metabolic process	IEA
GO:0010467	Process	Gene expression	IEA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	10860662
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016717	Function	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	IBA

MIM	HGNC	e!Ensembl
606150	3576	ENSG00000221968

Q9Y5Q0

Protein name

Fatty acid desaturase 3 (FADS3) (EC 1.14.19.-) (Delta(13) fatty acid desaturase) (Delta(13) desaturase)

Protein function

Mammals have different sphingoid bases that differ in their length and/or pattern of desaturation and hydroxyl groups. The predominant sphingoid base that comprises mammalian ceramides is sphing-4-enine (sphingosine or SPH) which has a trans (E)

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00173	Cyt-b5	24 → 97	Cytochrome b5-like Heme/Steroid binding domain	Domain
PF00487	FA_desaturase	158 → 419	Fatty acid desaturase	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in various organs and tissues including liver, kidney, brain, lung, pancreas, testis, ovary and skeletal muscle (at protein level). {ECO:0000269|PubMed:19752397}.

Sequence

MGGVGEPGPREGPAQPGAPLPTFCWEQIRAHDQPGDKWLVIERRVYDISRWAQRHPGGSR
LIGHHGAEDATDAFRAFHQDLNFVRKFLQPLLIGELAPEEPSQDGPLNAQLVEDFRALHQ
AAEDMKLFDASPTFFAFLLGHILAMEVLAWLLIYLLGPGWVPSALAAFILAISQAQSWCL
QHDLGHASIFKKSWWNHVAQKFVMGQLKGFSAHWWNFRHFQHHAKPNIFHKDPDVTVAPV
FLLGESSVEYGKKKRRYLPYNQQHLYFFLIGPPLLTLVNFEVENLAYMLVCMQWADLLWA
ASFYARFFLSYLPFYGVPGVLLFFVAVRVLESHWFVWITQMNHIPKEIGHEKHRDWVSSQ
LAATCNVEPSLFTNWFSGHLNFQIEHHLFPRMPRHNYSRVAPLVKSLCAKHGLSYEVKPF
LTALVDIVRSLKKSGDIWLDAYLHQ

Sequence length

445

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

FADS3 (fatty acid desaturase 3)