Details for: FADS6

Gene ID: 283985

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: FADS6

Ensembl ID: ENSG00000172782

Description: fatty acid desaturase 6

Cell Significance Landscape

Associated with

  • Fatty acid biosynthetic process
    (GO:0006633)
  • Lipid metabolic process
    (GO:0006629)
  • Membrane
    (GO:0016020)
  • 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
    (GO:0016717)
  • Protein binding
    (GO:0005515)

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • enterocyte CL0000584
    CSI 2.74
    rCSI 4.43%
    PRS 99.95

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Network Configuration

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  • Node Color (Target Cell CSI, relative to current network):
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    • High
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    • CSI N/A
  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • Shared Pathway Edge (ONTOLOGY)

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Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [FADS6](/details-gene/283985) (Fatty Acid Desaturase 6) is a protein-coding gene located on chromosome 17q25.1. As an oxidoreductase, it participates in the fatty acid biosynthetic process. Expression data indicates that [FADS6](/details-gene/283985) is a significant gene in [enterocytes](/details-cell/CL0000584), the primary absorptive cells of the intestinal epithelium, suggesting a specialized role in lipid metabolism related to dietary fat processing. ## Cellular Roles and Expression Landscape **Overall**, the expression profile of [FADS6](/details-gene/283985) points to a highly specific function within the gastrointestinal system. Its most significant expression is found in [enterocytes](/details-cell/CL0000584) (CSI: 2.74), the cells responsible for absorbing nutrients, including lipids, from the gut. This specific localization suggests that [FADS6](/details-gene/283985) is not a broadly expressed metabolic enzyme but rather one tailored to the unique metabolic demands of the small intestine, likely involving the modification and processing of dietary fatty acids immediately following their absorption. ## Pathways and Molecular Function The functional annotations for [FADS6](/details-gene/283985) are highly consistent with its cellular expression profile. It is categorized under the biological processes of '[fatty acid biosynthetic process](/details-go/GO0006633)' and the broader '[lipid metabolic process](/details-go/GO0006629)'. Its molecular function is defined as '[oxidoreductase activity](/details-go/GO0016717)', which is characteristic of desaturase enzymes that introduce double bonds into fatty acid chains. As a '[membrane](/details-go/GO0016020)'-associated protein, [FADS6](/details-gene/283985) is likely positioned within the endoplasmic reticulum of [enterocytes](/details-cell/CL0000584), where it can efficiently process newly absorbed lipids. It is also annotated with '[protein binding](/details-go/GO0005515)', suggesting it may interact with other enzymes or regulatory proteins to form a larger metabolic complex. ## Research Directions The specific expression of [FADS6](/details-gene/283985) in [enterocytes](/details-cell/CL0000584) opens several avenues for investigation into its role in metabolic health and disease. **Proposed Hypotheses:** 1. Dysregulation of [FADS6](/details-gene/283985) activity in [enterocytes](/details-cell/CL0000584) contributes to the pathogenesis of metabolic disorders such as malabsorption syndromes or non-alcoholic fatty liver disease (NAFLD) by altering the composition of fatty acids entering circulation. 2. The specific lipid species produced by [FADS6](/details-gene/283985) in the intestinal epithelium act as signaling molecules that influence gut barrier integrity, local inflammation, or the composition of the gut microbiome. **Experimental Approach:** To test the hypothesis that [FADS6](/details-gene/283985) is critical for systemic lipid homeostasis, an intestine-specific knockout mouse model could be generated using a Villin-Cre system. These mice and their wild-type littermates would be challenged with a high-fat diet. Fecal lipid content, serum lipid profiles, and liver histology would be analyzed to determine if the loss of intestinal [FADS6](/details-gene/283985) function leads to malabsorption, dyslipidemia, or hepatic steatosis. Furthermore, lipidomic analysis of the intestinal tissue would directly reveal how its absence alters the local fatty acid landscape. **Therapeutic Potential:** Given its role in modifying dietary fats at the point of absorption, [FADS6](/details-gene/283985) presents a potential therapeutic target for metabolic diseases. A small-molecule inhibitor of [FADS6](/details-gene/283985) could be developed to reduce the intestinal production of specific pro-inflammatory or atherogenic lipid species derived from the diet. Such a strategy would target the initial step in pathological lipid processing and could be relevant for managing conditions like hyperlipidemia or diet-induced obesity.

Genular Protein ID: 332512539

Symbol: FADS6_HUMAN

Name: Fatty acid desaturase 6

UniProtKB Accession Codes:

Q8N9I5 Q17RQ7 Q6XYE1

Database IDs:

AGR 1 AlphaFoldDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CTD 1 DMDM 1 DNASU 1 EC 1 EMBL 3 GO 4 GeneCards 1 GenomeRNAi 1 HGNC 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MIM 1 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 RNAct 1 RefSeq 1 SIGNOR 1 STRING 1 SignaLink 1 TreeFam 1 UniPathway 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 15498874

Title: Large-scale cDNA transfection screening for genes related to cancer development and progression.

PubMed ID: 15498874

DOI: 10.1073/pnas.0404089101

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

Sequence Information:

  • Length: 356
  • Mass: 40447
  • Checksum: C405D980D1C93439
  • Sequence:
    • MEPTEPMEPT EPMEPTEPME PARSAHRGGE ALLRELEVLV QDVVRTSSWW ERHGVDCAIL 
ALSLFALPAG FLCLRWENAL VFASGITILG VCHYTLTVKG SHLATHGALT ESKRWSKIWL 
LFFVEVCTAF TAEHATHGHV KMHHAYTNVV GLGDSSTWRL PCLNRYVYMF LAPFLLPIAT 
PLVAVERLRK VELGTALRTL ALISLGLYSH YWLLLNVSGF KNPSSALGCM FLTRSLLAHP 
YLHVNIFQHI GLPMFSRDNK PRRIHMMSLG VLNLARLPVL DWAFGHSIIS CHVEHHLFPR 
LSDNMCLKVK PVVSQFLREK QLPYNEDSYL ARFQLFLRRY EEFMVQAPPI TELVGL

Genular Protein ID: 1984091118

Symbol: A0A087WYB9_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A087WYB9

Database IDs:

ARBA 3 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 DNASU 1 EMBL 1 Ensembl 2 ExpressionAtlas 1 GO 2 GeneTree 1 HGNC 1 InterPro 2 KEGG 1 MANE-Select 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OrthoDB 1 PANTHER 2 PeptideAtlas 2 Pfam 2 Proteomes 2 ProteomicsDB 1 RefSeq 1 SAM 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 16625196

Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

PubMed ID: 16625196

DOI: 10.1038/nature04689

Sequence Information:

  • Length: 368
  • Mass: 41817
  • Checksum: 0FAD1773CC96BCDC
  • Sequence:
    • MEPTEPMEPT EPMEPTEPME PTEPMEPTEP MEPARSAHRG GEALLRELEV LVQDVVRTSS 
WWERHGVDCA ILALSLFALP AGFLCLRWEN ALVFASGITI LGVCHYTLTV KGSHLATHGA 
LTESKRWSKI WLLFFVEVCT AFTAEHATHG HVKMHHAYTN VVGLGDSSTW RLPCLNRYVY 
MFLAPFLLPI ATPLVAVERL RKVELGTALR TLALISLGLY SHYWLLLNVS GFKNPSSALG 
CMFLTRSLLA HPYLHVNIFQ HIGLPMFSRD NKPRRIHMMS LGVLNLARLP VLDWAFGHSI 
ISCHVEHHLF PRLSDNMCLK VKPVVSQFLR EKQLPYNEDS YLARFQLFLR RYEEFMVQAP 
PITELVGL