FASN (fatty acid synthase)

Gene

• Entrez ID: 2194
• Gene name: Fatty acid synthase
• Gene symbol: FASN
• Synonyms: FAS, OA-519, SDR27X1
• Chromosome: 17
• Chromosome location: 17q25.3
• Summary: The enzyme encoded by this gene is a multifunctional protein. Its main function is to catalyze the synthesis of palmitate from acetyl-CoA and malonyl-CoA, in the presence of NADPH, into long-chain saturated fatty acids. In some cancer cell lines, this protein has been found to be fused with estrogen receptor-alpha (ER-alpha), in which the N-terminus of FAS is fused in-frame with the C-terminus of ER-alpha. [provided by RefSeq, Jul 2008]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs145515446	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT035759	hsa-miR-2110	CLASH	23622248
MIRT035847	hsa-miR-1268a	CLASH	23622248
MIRT035891	hsa-miR-1303	CLASH	23622248
MIRT036557	hsa-miR-942-5p	CLASH	23622248
MIRT036832	hsa-miR-877-3p	CLASH	23622248
MIRT037647	hsa-miR-744-5p	CLASH	23622248
MIRT038318	hsa-miR-130b-5p	CLASH	23622248
MIRT039824	hsa-miR-615-3p	CLASH	23622248
MIRT040657	hsa-miR-92b-3p	CLASH	23622248
MIRT041353	hsa-miR-193b-3p	CLASH	23622248
MIRT041844	hsa-miR-484	CLASH	23622248
MIRT042639	hsa-miR-423-3p	CLASH	23622248
MIRT042890	hsa-miR-324-3p	CLASH	23622248
MIRT043370	hsa-miR-331-3p	CLASH	23622248
MIRT043627	hsa-miR-326	CLASH	23622248
MIRT044920	hsa-miR-186-5p	CLASH	23622248
MIRT046177	hsa-miR-27b-3p	CLASH	23622248
MIRT046667	hsa-miR-222-3p	CLASH	23622248
MIRT047454	hsa-miR-10b-5p	CLASH	23622248
MIRT047715	hsa-miR-10a-5p	CLASH	23622248
MIRT048070	hsa-miR-197-3p	CLASH	23622248
MIRT048815	hsa-miR-93-5p	CLASH	23622248
MIRT049363	hsa-miR-92a-3p	CLASH	23622248
MIRT050182	hsa-miR-26a-5p	CLASH	23622248
MIRT050921	hsa-miR-17-5p	CLASH	23622248
MIRT051341	hsa-miR-15a-5p	CLASH	23622248
MIRT051341	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT051341	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT053106	hsa-miR-424-5p	Luciferase reporter assay, Western blot	23599729
MIRT053106	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT053106	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT053228	hsa-miR-195-5p	Luciferase reporter assay, qRT-PCR, Western blot	23162665
MIRT053228	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT053228	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT054707	hsa-miR-1-3p	qRT-PCR, Western blot	24310399
MIRT548280	hsa-miR-15b-3p	PAR-CLIP	21572407
MIRT548280	hsa-miR-15b-3p	PAR-CLIP	20371350
MIRT548281	hsa-miR-4668-3p	PAR-CLIP	21572407
MIRT548281	hsa-miR-4668-3p	PAR-CLIP	20371350
MIRT548282	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT548282	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT548283	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT548283	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT548284	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT548284	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT548285	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT548285	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT658277	hsa-miR-4774-3p	HITS-CLIP	23824327
MIRT658278	hsa-miR-4314	HITS-CLIP	23824327
MIRT658279	hsa-miR-6740-3p	HITS-CLIP	23824327
MIRT658280	hsa-miR-3182	HITS-CLIP	23824327
MIRT658281	hsa-miR-6776-5p	HITS-CLIP	23824327
MIRT658282	hsa-miR-6861-5p	HITS-CLIP	23824327
MIRT658283	hsa-miR-1264	HITS-CLIP	23824327
MIRT658284	hsa-miR-6771-3p	HITS-CLIP	23824327
MIRT734477	hsa-miR-486-3p	qRT-PCR, Western blot	25983556
MIRT734478	hsa-miR-532-5p	qRT-PCR, Western blot	25983556
MIRT735066	hsa-miR-30c-5p	Immunoprecipitaion, qRT-PCR, Western blot	28088781

Transcription factors

Transcription factor	Regulation	Reference
KLF5	Activation	18774944
SREBF1	Unknown	10520861;11790787;17449569

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001649	Process	Osteoblast differentiation	HDA	16210410
GO:0002068	Process	Glandular epithelial cell development	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0004313	Function	[acyl-carrier-protein] S-acetyltransferase activity	IEA
GO:0004314	Function	[acyl-carrier-protein] S-malonyltransferase activity	IEA
GO:0004315	Function	3-oxoacyl-[acyl-carrier-protein] synthase activity	IEA
GO:0004316	Function	3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity	IEA
GO:0004317	Function	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity	IEA
GO:0004320	Function	Oleoyl-[acyl-carrier-protein] hydrolase activity	IEA
GO:0005515	Function	Protein binding	IPI	18022563, 23427160, 25959826, 27478939, 32296183, 32814053
GO:0005794	Component	Golgi apparatus	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0006084	Process	Acetyl-CoA metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	TAS	7835891
GO:0006633	Process	Fatty acid biosynthetic process	IEA
GO:0008611	Process	Ether lipid biosynthetic process	IEA
GO:0008659	Function	(3R)-hydroxymyristoyl-[acyl-carrier-protein] dehydratase activity	IEA
GO:0008693	Function	3-hydroxydecanoyl-[acyl-carrier-protein] dehydratase activity	IEA
GO:0016020	Component	Membrane	HDA	16210410, 19946888
GO:0016295	Function	Myristoyl-[acyl-carrier-protein] hydrolase activity	IEA
GO:0016296	Function	Palmitoyl-[acyl-carrier-protein] hydrolase activity	IEA
GO:0030223	Process	Neutrophil differentiation	IEA
GO:0030224	Process	Monocyte differentiation	IEA
GO:0030879	Process	Mammary gland development	IEA
GO:0031177	Function	Phosphopantetheine binding	IEA
GO:0031325	Process	Positive regulation of cellular metabolic process	TAS
GO:0042470	Component	Melanosome	IEA
GO:0042587	Component	Glycogen granule	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0045540	Process	Regulation of cholesterol biosynthetic process	TAS
GO:0046949	Process	Fatty-acyl-CoA biosynthetic process	TAS
GO:0047117	Function	Enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity	IEA
GO:0047451	Function	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 20458337, 23533145
GO:0071353	Process	Cellular response to interleukin-4	IEA
GO:0090557	Process	Establishment of endothelial intestinal barrier	IEA
GO:0102131	Function	3-oxo-glutaryl-[acp] methyl ester reductase activity	IEA
GO:0102132	Function	3-oxo-pimeloyl-[acp] methyl ester reductase activity	IEA

Other IDs

• MIM: 600212
• HGNC: 3594
• e!Ensembl: ENSG00000169710

Protein

• UniProt ID: P49327
• Protein name: Fatty acid synthase (EC 2.3.1.85) (Type I fatty acid synthase) [Includes: [Acyl-carrier-protein] S-acetyltransferase (EC 2.3.1.38); [Acyl-carrier-protein] S-malonyltransferase (EC 2.3.1.39); 3-oxoacyl-[acyl-carrier-protein] synthase (EC 2.3.1.41); 3-oxoacyl-[acyl-carrier-protein] reductase (EC 1.1.1.100); 3-hydroxyacyl-[acyl-carrier-protein] dehydratase (EC 4.2.1.59); Enoyl-[acyl-carrier-protein] reductase (EC 1.3.1.39); Acyl-[acyl-carrier-protein] hydrolase (EC 3.1.2.14)]
• Protein function: Fatty acid synthetase is a multifunctional enzyme that catalyzes the de novo biosynthesis of long-chain saturated fatty acids starting from acetyl-CoA and malonyl-CoA in the presence of NADPH. This multifunctional protein contains 7 catalytic activities and a site for the binding of the prosthetic group 4'-phosphopantetheine of the acyl carrier protein ([ACP]) domain.
• PDB: 1XKT, 2CG5, 2JFD, 2JFK, 2PX6, 3HHD, 3TJM, 4PIV, 4W82, 4W9N, 4Z49, 5C37, 6NNA
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00109	ketoacyl-synt	1 → 239	Beta-ketoacyl synthase, N-terminal domain	Domain
  PF02801	Ketoacyl-synt_C	243 → 360	Beta-ketoacyl synthase, C-terminal domain	Domain
  PF16197	KAsynt_C_assoc	362 → 472	Ketoacyl-synthetase C-terminal extension	Family
  PF00698	Acyl_transf_1	493 → 810	Acyl transferase domain	Domain
  PF14765	PS-DH	865 → 1108	Polyketide synthase dehydratase	Domain
  PF08242	Methyltransf_12	1243 → 1342	Methyltransferase domain	Domain
  PF00107	ADH_zinc_N	1679 → 1816	Zinc-binding dehydrogenase	Family
  PF08659	KR	1885 → 2065	KR domain	Family
  PF00550	PP-binding	2125 → 2192	Phosphopantetheine attachment site	Domain
  PF00975	Thioesterase	2242 → 2501	Thioesterase domain	Domain

• Sequence:

  MEEVVIAGMSGKLPESENLQEFWDNLIGGVDMVTDDDRRWKAGLYGLPRRSGKLKDLSRF
  DASFFGVHPKQAHTMDPQLRLLLEVTYEAIVDGGINPDSLRGTHTGVWVGVSGSETSEAL
  SRDPETLVGYSMVGCQRAMMANRLSFFFDFRGPSIALDTACSSSLMALQNAYQAIHSGQC
  PAAIVGGINVLLKPNTSVQFLRLGMLSPEGTCKAFDTAGNGYCRSEGVVAVLLTKKSLAR
  RVYATILNAGTNTDGFKEQGVTFPSGDIQEQLIRSLYQSAGVAPESFEYIEAHGTGTKVG
  DPQELNGITRALCATRQEPLLIGSTKSNMGHPEPASGLAALAKVLLSLEHGLWAPNLHFH
  SPNPEIPALLDGRLQVVDQPLPVRGGNVGINSFGFGGSNVHIILRPNTQPPPAPAPHATL
  PRLLRASGRTPEAVQKLLEQGLRHSQDLAFLSMLNDIAAVPATAMPFRGYAVLGGERGGP
  EVQQVPAGERPLWFICSGMGTQWRGMGLSLMRLDRFRDSILRSDEAVKPFGLKVSQLLLS
  TDESTFDDIVHSFVSLTAIQIGLIDLLSCMGLRPDGIVGHSLGEVACGYADGCLSQEEAV
  LAAYWRGQCIKEAHLPPGAMAAVGLSWEECKQRCPPGVVPACHNSKDTVTISGPQAPVFE
  FVEQLRKEGVFAKEVRTGGMAFHSYFMEAIAPPLLQELKKVIREPKPRSARWLSTSIPEA
  QWHSSLARTSSAEYNVNNLVSPVLFQEALWHVPEHAVVLEIAPHALLQAVLKRGLKPSCT
  IIPLMKKDHRDNLEFFLAGIGRLHLSGIDANPNALFPPVEFPAPRGTPLISPLIKWDHSL
  AWDVPAAEDFPNGSGSPSAAIYNIDTSSESPDHYLVDHTLDGRVLFPATGYLSIVWKTLA
  RALGLGVEQLPVVFEDVVLHQATILPKTGTVSLEVRLLEASRAFEVSENGNLVVSGKVYQ
  WDDPDPRLFDHPESPTPNPTEPLFLAQAEVYKELRLRGYDYGPHFQGILEASLEGDSGRL
  LWKDNWVSFMDTMLQMSILGSAKHGLYLPTRVTAIHIDPATHRQKLYTLQDKAQVADVVV
  SRWLRVTVAGGVHISGLHTESAPRRQQEQQVPILEKFCFTPHTEEGCLSERAALQEELQL
  CKGLVQALQTKVTQQGLKMVVPGLDGAQIPRDPSQQELPRLLSAACRLQLNGNLQLELAQ
  VLAQERPKLPEDPLLSGLLDSPALKACLDTAVENMPSLKMKVVEVLAGHGHLYSRIPGLL
  SPHPLLQLSYTATDRHPQALEAAQAELQQHDVAQGQWDPADPAPSALGSADLLVCNCAVA
  ALGDPASALSNMVAALREGGFLLLHTLLRGHPLGDIVAFLTSTEPQYGQGILSQDAWESL
  FSRVSLRLVGLKKSFYGSTLFLCRRPTPQDSPIFLPVDDTSFRWVESLKGILADEDSSRP
  VWLKAINCATSGVVGLVNCLRREPGGNRLRCVLLSNLSSTSHVPEVDPGSAELQKVLQGD
  LVMNVYRDGAWGAFRHFLLEEDKPEEPTAHAFVSTLTRGDLSSIRWVCSSLRHAQPTCPG
  AQLCTVYYASLNFRDIMLATGKLSPDAIPGKWTSQDSLLGMEFSGRDASGKRVMGLVPAK
  GLATSVLLSPDFLWDVPSNWTLEEAASVPVVYSTAYYALVVRGRVRPGETLLIHSGSGGV
  GQAAIAIALSLGCRVFTTVGSAEKRAYLQARFPQLDSTSFANSRDTSFEQHVLWHTGGKG
  VDLVLNSLAEEKLQASVRCLATHGRFLEIGKFDLSQNHPLGMAIFLKNVTFHGVLLDAFF
  NESSADWREVWALVQAGIRDGVVRPLKCTVFHGAQVEDAFRYMAQGKHIGKVVVQVLAEE
  PEAVLKGAKPKLMSAISKTFCPAHKSYIIAGGLGGFGLELAQWLIQRGVQKLVLTSRSGI
  RTGYQAKQVRRWRRQGVQVQVSTSNISSLEGARGLIAEAAQLGPVGGVFNLAVVLRDGLL
  ENQTPEFFQDVCKPKYSGTLNLDRVTREACPELDYFVVFSSVSCGRGNAGQSNYGFANSA
  MERICEKRRHEGLPGLAVQWGAIGDVGILVETMSTNDTIVSGTLPQRMASCLEVLDLFLN
  QPHMVLSSFVLAEKAAAYRDRDSQRDLVEAVAHILGIRDLAAVNLDSSLADLGLDSLMSV
  EVRQTLERELNLVLSVREVRQLTLRKLQELSSKADEASELACPTPKEDGLAQQQTQLNLR
  SLLVNPEGPTLMRLNSVQSSERPLFLVHPIEGSTTVFHSLASRLSIPTYGLQCTRAAPLD
  SIHSLAAYYIDCIRQVQPEGPYRVAGYSYGACVAFEMCSQLQAQQSPAPTHNSLFLFDGS
  PTYVLAYTQSYRAKLTPGCEAEAETEAICFFVQQFTDMEHNRVLEALLPLKGLEERVAAA
  VDLIIKSHQGLDRQELSFAARSFYYKLRAAEQYTPKAKYHGNVMLLRAKTGGAYGEDLGA
  DYNLSQVCDGKVSVHVIEGDHRTLLEGSGLESIISIIHSSLAEPRVSVREG

• Sequence length: 2511