Details for: ELOVL4

Gene ID: 6785

Symbol: ELOVL4

Ensembl ID: ENSG00000118402

Description: ELOVL fatty acid elongase 4

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 43.2116
    Cell Significance Index: -17.5600
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 18.3871
    Cell Significance Index: -17.5600
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 10.4349
    Cell Significance Index: 657.6800
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 2.7599
    Cell Significance Index: 45.4800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 2.0510
    Cell Significance Index: 44.4400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.8535
    Cell Significance Index: 84.0200
  • Cell Name: sebaceous gland cell (CL2000021)
    Fold Change: 1.7700
    Cell Significance Index: 2.2900
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 1.4832
    Cell Significance Index: 282.2700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.3732
    Cell Significance Index: 275.4600
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 1.1879
    Cell Significance Index: 26.0100
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 1.1259
    Cell Significance Index: 13.9700
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 1.0234
    Cell Significance Index: 53.7300
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.9256
    Cell Significance Index: 91.5600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.8198
    Cell Significance Index: 740.2200
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.7986
    Cell Significance Index: 22.7900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.5479
    Cell Significance Index: 196.5300
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.5094
    Cell Significance Index: 19.2900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.4877
    Cell Significance Index: 21.5700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.4856
    Cell Significance Index: 32.6500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.4601
    Cell Significance Index: 74.8400
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 0.3957
    Cell Significance Index: 3.0500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.3278
    Cell Significance Index: 35.6600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.2637
    Cell Significance Index: 14.8000
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.2552
    Cell Significance Index: 176.4900
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.2512
    Cell Significance Index: 15.4400
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1614
    Cell Significance Index: 11.1700
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: 0.1487
    Cell Significance Index: 1.3100
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.1351
    Cell Significance Index: 1.6100
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.1115
    Cell Significance Index: 1.9100
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.1042
    Cell Significance Index: 2.5000
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0909
    Cell Significance Index: 40.1800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0549
    Cell Significance Index: 7.5400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0395
    Cell Significance Index: 21.5800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0386
    Cell Significance Index: 1.0800
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.0097
    Cell Significance Index: 0.5800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0031
    Cell Significance Index: -0.1100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0035
    Cell Significance Index: -1.5900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0069
    Cell Significance Index: -0.2000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0090
    Cell Significance Index: -17.0300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0128
    Cell Significance Index: -23.5300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0146
    Cell Significance Index: -22.5200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0163
    Cell Significance Index: -1.0000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0165
    Cell Significance Index: -10.5100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0175
    Cell Significance Index: -23.7400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0189
    Cell Significance Index: -14.0200
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0231
    Cell Significance Index: -0.4900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0261
    Cell Significance Index: -19.1700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0270
    Cell Significance Index: -15.2200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0287
    Cell Significance Index: -21.7300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0384
    Cell Significance Index: -23.9900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0513
    Cell Significance Index: -5.2400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0516
    Cell Significance Index: -1.2900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0527
    Cell Significance Index: -7.6600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0572
    Cell Significance Index: -16.4700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0772
    Cell Significance Index: -1.6500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0843
    Cell Significance Index: -15.1900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0901
    Cell Significance Index: -17.8900
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0949
    Cell Significance Index: -12.1700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1031
    Cell Significance Index: -21.7100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.1243
    Cell Significance Index: -15.2900
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.1259
    Cell Significance Index: -1.5700
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.1310
    Cell Significance Index: -2.7400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.1326
    Cell Significance Index: -22.6400
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1398
    Cell Significance Index: -2.3400
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.1407
    Cell Significance Index: -3.0400
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: -0.1435
    Cell Significance Index: -1.7400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1453
    Cell Significance Index: -16.9300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1512
    Cell Significance Index: -19.5400
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1557
    Cell Significance Index: -11.0100
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.1689
    Cell Significance Index: -3.3400
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1714
    Cell Significance Index: -20.2100
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1922
    Cell Significance Index: -6.1200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1960
    Cell Significance Index: -22.4600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1988
    Cell Significance Index: -20.7000
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: -0.2049
    Cell Significance Index: -1.3600
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2260
    Cell Significance Index: -7.4000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2401
    Cell Significance Index: -7.6900
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.2412
    Cell Significance Index: -3.8700
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2446
    Cell Significance Index: -19.3700
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.2456
    Cell Significance Index: -4.9300
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.2575
    Cell Significance Index: -3.2500
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.2578
    Cell Significance Index: -3.6700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2655
    Cell Significance Index: -19.7900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.2682
    Cell Significance Index: -20.5800
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: -0.2750
    Cell Significance Index: -0.6200
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: -0.2799
    Cell Significance Index: -2.3100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.2971
    Cell Significance Index: -13.8500
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.3001
    Cell Significance Index: -3.2700
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.3096
    Cell Significance Index: -4.3400
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: -0.3158
    Cell Significance Index: -3.2900
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.3164
    Cell Significance Index: -7.8900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.3201
    Cell Significance Index: -20.6500
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.3218
    Cell Significance Index: -3.0500
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.3245
    Cell Significance Index: -7.8600
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.3266
    Cell Significance Index: -11.4400
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.3283
    Cell Significance Index: -3.8300
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.3366
    Cell Significance Index: -17.5400
  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: -0.3399
    Cell Significance Index: -3.8400
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.3400
    Cell Significance Index: -8.4800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.3569
    Cell Significance Index: -18.5400

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.

Other Information

**Key Characteristics:** 1. **Fatty Acid Elongation:** ELOVL4 is responsible for the elongation of unsaturated fatty acids, specifically monounsaturated and polyunsaturated fatty acids, which are critical components of cellular membranes and energy storage molecules. 2. **Tissue-Specific Expression:** ELOVL4 is highly expressed in hematopoietic stem cells, retinal rod cells, neurons, and enterocytes, indicating its importance in these tissues. 3. **Enzyme Characteristics:** ELOVL4 is a member of the ELOVL family of enzymes, which share a similar catalytic mechanism for fatty acid elongation. 4. **Pathway Involvement:** ELOVL4 is involved in various fatty acid-related pathways, including fatty acid biosynthesis, fatty acid elongation, and very long-chain fatty acid biosynthesis. **Pathways and Functions:** ELOVL4's involvement in fatty acid metabolism is multifaceted, with implications for energy homeostasis, immunological function, and neurological processes. The following pathways and functions highlight the significance of ELOVL4: 1. **Fatty Acid Biosynthesis:** ELOVL4 contributes to the production of fatty acids, which are essential for energy storage and cellular membrane structure. 2. **Fatty Acid Elongation:** ELOVL4 elongates unsaturated fatty acids, which are critical for the production of polyunsaturated fatty acids, essential for cellular membrane fluidity and signaling. 3. **Very Long-Chain Fatty Acid Biosynthesis:** ELOVL4 is involved in the elongation of very long-chain fatty acids, which are crucial for the production of lipids and energy storage molecules. 4. **G Protein-Coupled Photoreceptor Activity:** ELOVL4's involvement in G protein-coupled photoreceptor activity suggests its role in the visual system, where fatty acid metabolism influences photoreceptor function. 5. **Neurological Function:** ELOVL4's expression in neurons and GABAergic amacrine cells highlights its significance in neurological processes, including synaptic transmission and neuronal development. **Clinical Significance:** ELOVL4's role in fatty acid metabolism and its tissue-specific expression make it a potential target for the treatment of various diseases, including: 1. **Metabolic Disorders:** ELOVL4's involvement in fatty acid metabolism suggests its potential role in the treatment of metabolic disorders, such as obesity and type 2 diabetes. 2. **Neurological Disorders:** ELOVL4's expression in neurons and its involvement in G protein-coupled photoreceptor activity make it a potential target for the treatment of neurological disorders, such as retinitis pigmentosa and Alzheimer's disease. 3. **Immunological Disorders:** ELOVL4's involvement in fatty acid metabolism and its expression in hematopoietic stem cells suggest its potential role in the treatment of immunological disorders, such as autoimmune diseases and cancer. In conclusion, ELOVL4 is a vital enzyme involved in fatty acid metabolism, with significant implications for energy homeostasis, immunological function, and neurological processes. Further research is necessary to fully elucidate ELOVL4's role in disease and to explore its potential as a therapeutic target.

Genular Protein ID: 3639325743

Symbol: ELOV4_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q9GZR5 B2R6B5 Q5TCS2 Q86YJ1 Q9H139

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChEBI 100 ChEMBL 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 EC 1 EMBL 14 Ensembl 1 GO 12 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HAMAP 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 7 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 1 RefSeq 1 Rhea 52 SIGNOR 1 SMR 1 STRING 1 SignaLink 1 SwissLipids 1 SwissPalm 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 11138005

Title: A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy.

PubMed ID: 11138005

DOI: 10.1038/83817

PubMed ID: 11581213

Title: A novel gene for autosomal dominant Stargardt-like macular dystrophy with homology to the SUR4 protein family.

PubMed ID: 11581213

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

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

PubMed ID: 16036915

Title: Dominant negative mechanism underlies autosomal dominant Stargardt-like macular dystrophy linked to mutations in ELOVL4.

PubMed ID: 16036915

DOI: 10.1074/jbc.m503411200

PubMed ID: 20937905

Title: ELOVL1 production of C24 acyl-CoAs is linked to C24 sphingolipid synthesis.

PubMed ID: 20937905

DOI: 10.1073/pnas.1005572107

PubMed ID: 22100072

Title: Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia.

PubMed ID: 22100072

DOI: 10.1016/j.ajhg.2011.10.011

PubMed ID: 23479632

Title: Role of ELOVL4 and very long-chain polyunsaturated fatty acids in mouse models of Stargardt type 3 retinal degeneration.

PubMed ID: 23479632

DOI: 10.1073/pnas.1214707110

PubMed ID: 12592226

Title: Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis.

PubMed ID: 12592226

PubMed ID: 24566826

Title: Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia.

PubMed ID: 24566826

DOI: 10.1001/jamaneurol.2013.6337

Sequence Information:

  • Length: 314
  • Mass: 36829
  • Checksum: B2EBCE54D868E96E
  • Sequence:
    • MGLLDSEPGS VLNVVSTALN DTVEFYRWTW SIADKRVENW PLMQSPWPTL SISTLYLLFV 
WLGPKWMKDR EPFQMRLVLI IYNFGMVLLN LFIFRELFMG SYNAGYSYIC QSVDYSNNVH 
EVRIAAALWW YFVSKGVEYL DTVFFILRKK NNQVSFLHVY HHCTMFTLWW IGIKWVAGGQ 
AFFGAQLNSF IHVIMYSYYG LTAFGPWIQK YLWWKRYLTM LQLIQFHVTI GHTALSLYTD 
CPFPKWMHWA LIAYAISFIF LFLNFYIRTY KEPKKPKAGK TAMNGISANG VSKSEKQLMI 
ENGKKQKNGK AKGD

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.