Human Gene FASN (ENST00000306749.4_7) from GENCODE V47lift37
  Description: fatty acid synthase (from RefSeq NM_004104.5)
Gencode Transcript: ENST00000306749.4_7
Gencode Gene: ENSG00000169710.9_12
Transcript (Including UTRs)
   Position: hg19 chr17:80,036,214-80,056,112 Size: 19,899 Total Exon Count: 43 Strand: -
Coding Region
   Position: hg19 chr17:80,037,019-80,054,321 Size: 17,303 Coding Exon Count: 42 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:80,036,214-80,056,112)mRNA (may differ from genome)Protein (2511 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FAS_HUMAN
DESCRIPTION: RecName: Full=Fatty acid synthase; EC=2.3.1.85; Includes: RecName: Full=[Acyl-carrier-protein] S-acetyltransferase; EC=2.3.1.38; Includes: RecName: Full=[Acyl-carrier-protein] S-malonyltransferase; EC=2.3.1.39; Includes: RecName: Full=3-oxoacyl-[acyl-carrier-protein] synthase; EC=2.3.1.41; Includes: RecName: Full=3-oxoacyl-[acyl-carrier-protein] reductase; EC=1.1.1.100; Includes: RecName: Full=3-hydroxyacyl-[acyl-carrier-protein] dehydratase; EC=4.2.1.59; Includes: RecName: Full=Enoyl-[acyl-carrier-protein] reductase; EC=1.3.1.10; Includes: RecName: Full=Oleoyl-[acyl-carrier-protein] hydrolase; EC=3.1.2.14;
FUNCTION: Fatty acid synthetase catalyzes the formation of long- chain fatty acids from acetyl-CoA, malonyl-CoA and NADPH. This multifunctional protein has 7 catalytic activities and an acyl carrier protein.
CATALYTIC ACTIVITY: Acetyl-CoA + n malonyl-CoA + 2n NADPH = a long-chain fatty acid + (n+1) CoA + n CO(2) + 2n NADP(+).
CATALYTIC ACTIVITY: Acetyl-CoA + [acyl-carrier-protein] = CoA + acetyl-[acyl-carrier-protein].
CATALYTIC ACTIVITY: Malonyl-CoA + [acyl-carrier-protein] = CoA + malonyl-[acyl-carrier-protein].
CATALYTIC ACTIVITY: Acyl-[acyl-carrier-protein] + malonyl-[acyl- carrier-protein] = 3-oxoacyl-[acyl-carrier-protein] + CO(2) + [acyl-carrier-protein].
CATALYTIC ACTIVITY: (3R)-3-hydroxyacyl-[acyl-carrier-protein] + NADP(+) = 3-oxoacyl-[acyl-carrier-protein] + NADPH.
CATALYTIC ACTIVITY: A (3R)-3-hydroxyacyl-[acyl-carrier protein] = a trans-2-enoyl-[acyl-carrier protein] + H(2)O.
CATALYTIC ACTIVITY: Acyl-[acyl-carrier-protein] + NADP(+) = trans- 2,3-dehydroacyl-[acyl-carrier-protein] + NADPH.
CATALYTIC ACTIVITY: Oleoyl-[acyl-carrier-protein] + H(2)O = [acyl- carrier-protein] + oleate.
SUBUNIT: Homodimer which is arranged in a head to tail fashion.
SUBCELLULAR LOCATION: Cytoplasm. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV.
TISSUE SPECIFICITY: Ubiquitous. Prominent expression in brain, lung, and liver.
MISCELLANEOUS: The relatively low beta-ketoacyl synthase activity may be attributable to the low 4'-phosphopantetheine content of the protein.
SIMILARITY: Contains 1 acyl carrier domain.
SEQUENCE CAUTION: Sequence=AAB35516.1; Type=Erroneous initiation; Sequence=AAC50259.1; Type=Miscellaneous discrepancy; Note=Several sequencing errors; Sequence=BAE06070.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: FASN
Diseases sorted by gene-association score: partial fetal alcohol syndrome (7), obesity (4), prostate cancer (3), breast cancer (2), colorectal cancer (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 192.70 RPKM in Adipose - Subcutaneous
Total median expression: 1682.22 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -33.60123-0.273 Picture PostScript Text
3' UTR -331.90805-0.412 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001227 - Ac_transferase_dom
IPR009081 - Acyl_carrier_prot-like
IPR014043 - Acyl_transferase
IPR016035 - Acyl_Trfase/lysoPLipase
IPR013149 - ADH_C
IPR002198 - DH_sc/Rdtase_SDR
IPR023102 - Fatty_acid_synthase_dom_2
IPR011032 - GroES-like
IPR018201 - Ketoacyl_synth_AS
IPR014031 - Ketoacyl_synth_C
IPR014030 - Ketoacyl_synth_N
IPR016036 - Malonyl_transacylase_ACP-bd
IPR013217 - Methyltransf_12
IPR016040 - NAD(P)-bd_dom
IPR020842 - PKS/FAS_KR
IPR020843 - PKS_ER
IPR006162 - PPantetheine_attach_site
IPR001031 - Thioesterase
IPR016039 - Thiolase-like
IPR016038 - Thiolase-like_subgr

Pfam Domains:
PF00107 - Zinc-binding dehydrogenase
PF00109 - Beta-ketoacyl synthase, N-terminal domain
PF00550 - Phosphopantetheine attachment site
PF00698 - Acyl transferase domain
PF00975 - Thioesterase domain
PF02801 - Beta-ketoacyl synthase, C-terminal domain
PF08242 - Methyltransferase domain
PF08659 - KR domain
PF13602 - Zinc-binding dehydrogenase
PF14765 - Polyketide synthase dehydratase
PF16197 - Ketoacyl-synthetase C-terminal extension

SCOP Domains:
47336 - ACP-like
50129 - GroES-like
52151 - FabD/lysophospholipase-like
51735 - NAD(P)-binding Rossmann-fold domains
51905 - FAD/NAD(P)-binding domain
51984 - MurCD N-terminal domain
53335 - S-adenosyl-L-methionine-dependent methyltransferases
53474 - alpha/beta-Hydrolases
53901 - Thiolase-like
55048 - Probable ACP-binding domain of malonyl-CoA ACP transacylase

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1XKT - X-ray MuPIT 2CG5 - X-ray MuPIT 2JFD - X-ray MuPIT 2JFK - X-ray MuPIT 2PX6 - X-ray MuPIT 3HHD - X-ray MuPIT 3TJM - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P49327
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0003824 catalytic activity
GO:0004312 fatty acid synthase activity
GO:0004313 [acyl-carrier-protein] S-acetyltransferase activity
GO:0004314 [acyl-carrier-protein] S-malonyltransferase activity
GO:0004315 3-oxoacyl-[acyl-carrier-protein] synthase activity
GO:0004316 3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity
GO:0004320 oleoyl-[acyl-carrier-protein] hydrolase activity
GO:0005515 protein binding
GO:0008144 drug binding
GO:0016295 myristoyl-[acyl-carrier-protein] hydrolase activity
GO:0016296 palmitoyl-[acyl-carrier-protein] hydrolase activity
GO:0016297 acyl-[acyl-carrier-protein] hydrolase activity
GO:0016419 S-malonyltransferase activity
GO:0016491 oxidoreductase activity
GO:0016740 transferase activity
GO:0016787 hydrolase activity
GO:0016788 hydrolase activity, acting on ester bonds
GO:0016829 lyase activity
GO:0019171 3-hydroxyacyl-[acyl-carrier-protein] dehydratase activity
GO:0031177 phosphopantetheine binding
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0045296 cadherin binding
GO:0047117 enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity
GO:0047451 3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity
GO:0070402 NADPH binding
GO:0102132 3-oxo-pimeloyl-[acp] methyl ester reductase activity

Biological Process:
GO:0001649 osteoblast differentiation
GO:0006084 acetyl-CoA metabolic process
GO:0006629 lipid metabolic process
GO:0006631 fatty acid metabolic process
GO:0006633 fatty acid biosynthetic process
GO:0008152 metabolic process
GO:0009058 biosynthetic process
GO:0030879 mammary gland development
GO:0031325 positive regulation of cellular metabolic process
GO:0045540 regulation of cholesterol biosynthetic process
GO:0046949 fatty-acyl-CoA biosynthetic process
GO:0055114 oxidation-reduction process
GO:0071353 cellular response to interleukin-4

Cellular Component:
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0042470 melanosome
GO:0042587 glycogen granule
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  LF213781 - JP 2014500723-A/21284: Polycomb-Associated Non-Coding RNAs.
LF209453 - JP 2014500723-A/16956: Polycomb-Associated Non-Coding RNAs.
BC014634 - Homo sapiens fatty acid synthase, mRNA (cDNA clone IMAGE:3535581), partial cds.
S80437 - fatty acid synthase {3' region} [human, breast and HepG2 cells, mRNA Partial, 2237 nt].
BC007909 - Homo sapiens fatty acid synthase, mRNA (cDNA clone IMAGE:4299348), complete cds.
BC007267 - Homo sapiens, clone IMAGE:3138929, mRNA, partial cds.
BC063242 - Homo sapiens fatty acid synthase, mRNA (cDNA clone MGC:60044 IMAGE:6172538), complete cds.
AB209988 - Homo sapiens mRNA for FASN variant protein, clone: ae00014.
U29344 - Human breast carcinoma fatty acid synthase mRNA, complete cds.
JD490946 - Sequence 471970 from Patent EP1572962.
BC007305 - Homo sapiens fatty acid synthase, mRNA (cDNA clone IMAGE:3352118), partial cds.
BC021544 - Homo sapiens fatty acid synthase, mRNA (cDNA clone IMAGE:3355480), partial cds.
BC014631 - Homo sapiens fatty acid synthase, mRNA (cDNA clone IMAGE:3351370), partial cds.
JD473420 - Sequence 454444 from Patent EP1572962.
JD451103 - Sequence 432127 from Patent EP1572962.
JD473419 - Sequence 454443 from Patent EP1572962.
JD191549 - Sequence 172573 from Patent EP1572962.
JD361469 - Sequence 342493 from Patent EP1572962.
JD194986 - Sequence 176010 from Patent EP1572962.
JD124635 - Sequence 105659 from Patent EP1572962.
JD365360 - Sequence 346384 from Patent EP1572962.
JD547087 - Sequence 528111 from Patent EP1572962.
JD142911 - Sequence 123935 from Patent EP1572962.
JD446309 - Sequence 427333 from Patent EP1572962.
JD487057 - Sequence 468081 from Patent EP1572962.
AY451392 - Homo sapiens fatty acid synthase mRNA, complete cds.
U26644 - Human fatty acid synthase (fas) mRNA, complete cds.
KJ901424 - Synthetic construct Homo sapiens clone ccsbBroadEn_10818 FASN gene, encodes complete protein.
AB384663 - Synthetic construct DNA, clone: pF1KB0001, Homo sapiens FASN gene for fatty acid synthase, complete cds, without stop codon, in Flexi system.
LF328628 - JP 2014500723-A/136131: Polycomb-Associated Non-Coding RNAs.
LF328629 - JP 2014500723-A/136132: Polycomb-Associated Non-Coding RNAs.
LF328631 - JP 2014500723-A/136134: Polycomb-Associated Non-Coding RNAs.
LF328632 - JP 2014500723-A/136135: Polycomb-Associated Non-Coding RNAs.
LF328633 - JP 2014500723-A/136136: Polycomb-Associated Non-Coding RNAs.
LF328634 - JP 2014500723-A/136137: Polycomb-Associated Non-Coding RNAs.
LF328635 - JP 2014500723-A/136138: Polycomb-Associated Non-Coding RNAs.
LF328636 - JP 2014500723-A/136139: Polycomb-Associated Non-Coding RNAs.
LF328637 - JP 2014500723-A/136140: Polycomb-Associated Non-Coding RNAs.
LF328638 - JP 2014500723-A/136141: Polycomb-Associated Non-Coding RNAs.
DQ591327 - Homo sapiens piRNA piR-58439, complete sequence.
LF328639 - JP 2014500723-A/136142: Polycomb-Associated Non-Coding RNAs.
LF328640 - JP 2014500723-A/136143: Polycomb-Associated Non-Coding RNAs.
LF328641 - JP 2014500723-A/136144: Polycomb-Associated Non-Coding RNAs.
LF328642 - JP 2014500723-A/136145: Polycomb-Associated Non-Coding RNAs.
LF328643 - JP 2014500723-A/136146: Polycomb-Associated Non-Coding RNAs.
LF328645 - JP 2014500723-A/136148: Polycomb-Associated Non-Coding RNAs.
JD382468 - Sequence 363492 from Patent EP1572962.
JD458362 - Sequence 439386 from Patent EP1572962.
JD129529 - Sequence 110553 from Patent EP1572962.
JD129756 - Sequence 110780 from Patent EP1572962.
JD397929 - Sequence 378953 from Patent EP1572962.
MA564205 - JP 2018138019-A/136131: Polycomb-Associated Non-Coding RNAs.
MA564206 - JP 2018138019-A/136132: Polycomb-Associated Non-Coding RNAs.
MA564208 - JP 2018138019-A/136134: Polycomb-Associated Non-Coding RNAs.
MA564209 - JP 2018138019-A/136135: Polycomb-Associated Non-Coding RNAs.
MA564210 - JP 2018138019-A/136136: Polycomb-Associated Non-Coding RNAs.
MA564211 - JP 2018138019-A/136137: Polycomb-Associated Non-Coding RNAs.
MA564212 - JP 2018138019-A/136138: Polycomb-Associated Non-Coding RNAs.
MA564213 - JP 2018138019-A/136139: Polycomb-Associated Non-Coding RNAs.
MA564214 - JP 2018138019-A/136140: Polycomb-Associated Non-Coding RNAs.
MA564215 - JP 2018138019-A/136141: Polycomb-Associated Non-Coding RNAs.
MA564216 - JP 2018138019-A/136142: Polycomb-Associated Non-Coding RNAs.
MA564217 - JP 2018138019-A/136143: Polycomb-Associated Non-Coding RNAs.
MA564218 - JP 2018138019-A/136144: Polycomb-Associated Non-Coding RNAs.
MA564219 - JP 2018138019-A/136145: Polycomb-Associated Non-Coding RNAs.
MA564220 - JP 2018138019-A/136146: Polycomb-Associated Non-Coding RNAs.
MA564222 - JP 2018138019-A/136148: Polycomb-Associated Non-Coding RNAs.
MA449358 - JP 2018138019-A/21284: Polycomb-Associated Non-Coding RNAs.
MA445030 - JP 2018138019-A/16956: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-5966-1 - fatty acid biosynthesis initiation (animals and fungi, cytoplasm)

Reactome (by CSHL, EBI, and GO)

Protein P49327 (Reactome details) participates in the following event(s):

R-HSA-163756 Formation of fatty acid synthase (FAS) dimer
R-HSA-199202 Phosphopantetheine conjugation of the ACP domain of FAS
R-HSA-5655955 OLAH hydrolyzes decanoyl-FASN dimer to DECA and FASN dimer
R-HSA-75872 acetyl-CoA + 7 malonyl-CoA + 14 NADHP + 14 H+ => palmitate + 7 CO2 + 14 NADP+ + 8 CoASH + 6 H2O
R-HSA-75105 Fatty acyl-CoA biosynthesis
R-HSA-163765 ChREBP activates metabolic gene expression
R-HSA-199220 Vitamin B5 (pantothenate) metabolism
R-HSA-2426168 Activation of gene expression by SREBF (SREBP)
R-HSA-8978868 Fatty acid metabolism
R-HSA-163685 Energy Metabolism
R-HSA-196849 Metabolism of water-soluble vitamins and cofactors
R-HSA-1655829 Regulation of cholesterol biosynthesis by SREBP (SREBF)
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism
R-HSA-196854 Metabolism of vitamins and cofactors
R-HSA-8957322 Metabolism of steroids

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000306749.1, ENST00000306749.2, ENST00000306749.3, FAS, FAS_HUMAN, NM_004104, P49327, Q13479, Q16702, Q4LE83, Q6P4U5, Q6SS02, Q969R1, Q96C68, Q96IT0, uc317nxn.1, uc317nxn.2
UCSC ID: ENST00000306749.4_7
RefSeq Accession: NM_004104.5
Protein: P49327 (aka FAS_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.