Details for: FUCA1

Gene ID: 2517

Symbol: FUCA1

Ensembl ID: ENSG00000179163

Description: alpha-L-fucosidase 1

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: polychromatophilic erythroblast (CL0000550)
    Fold Change: 145.2793
    Cell Significance Index: -22.6000
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 88.1158
    Cell Significance Index: -22.3500
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 53.8329
    Cell Significance Index: -21.8700
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 49.8702
    Cell Significance Index: -25.6500
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 23.1790
    Cell Significance Index: -22.1300
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 18.8490
    Cell Significance Index: -23.2400
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 8.0445
    Cell Significance Index: -21.5500
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 6.1124
    Cell Significance Index: -24.1200
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 4.9488
    Cell Significance Index: -15.2000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 3.3269
    Cell Significance Index: 387.7100
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 3.1020
    Cell Significance Index: 161.1400
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 2.9369
    Cell Significance Index: 27.0500
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 1.8797
    Cell Significance Index: 28.1700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.7875
    Cell Significance Index: 83.3400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 1.7868
    Cell Significance Index: 322.1100
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.5626
    Cell Significance Index: 21.3200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 1.3545
    Cell Significance Index: 166.5500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.2112
    Cell Significance Index: 661.4800
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.1240
    Cell Significance Index: 1014.8500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 1.0866
    Cell Significance Index: 23.5400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.7480
    Cell Significance Index: 38.9600
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.7393
    Cell Significance Index: 51.1300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.7273
    Cell Significance Index: 19.4200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.6908
    Cell Significance Index: 112.3500
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.5423
    Cell Significance Index: 8.3900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.5414
    Cell Significance Index: 53.5600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.4748
    Cell Significance Index: 13.6800
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.3969
    Cell Significance Index: 9.1700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.3947
    Cell Significance Index: 17.8900
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.3551
    Cell Significance Index: 9.5100
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.3075
    Cell Significance Index: 8.3700
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.2802
    Cell Significance Index: 2.2900
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.2469
    Cell Significance Index: 31.6500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.2352
    Cell Significance Index: 47.1900
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.2164
    Cell Significance Index: 6.9300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1842
    Cell Significance Index: 81.4300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1766
    Cell Significance Index: 30.1500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1645
    Cell Significance Index: 31.3100
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1546
    Cell Significance Index: 106.9600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.1262
    Cell Significance Index: 9.4100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1085
    Cell Significance Index: 38.9300
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.1010
    Cell Significance Index: 20.0500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0784
    Cell Significance Index: 10.7700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0526
    Cell Significance Index: 1.8500
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0512
    Cell Significance Index: 1.0900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0511
    Cell Significance Index: 37.4700
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.0416
    Cell Significance Index: 0.8700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0051
    Cell Significance Index: 9.5300
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.0039
    Cell Significance Index: 0.0400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.0017
    Cell Significance Index: 0.1700
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 0.0000
    Cell Significance Index: 0.0000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0028
    Cell Significance Index: -2.0700
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0051
    Cell Significance Index: -0.3600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0087
    Cell Significance Index: -6.6100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0113
    Cell Significance Index: -20.8300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0123
    Cell Significance Index: -7.6900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0136
    Cell Significance Index: -7.6500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0145
    Cell Significance Index: -22.2700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0176
    Cell Significance Index: -2.0800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0198
    Cell Significance Index: -12.5500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0203
    Cell Significance Index: -27.6700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0436
    Cell Significance Index: -9.1800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0464
    Cell Significance Index: -21.0500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0466
    Cell Significance Index: -5.3400
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0474
    Cell Significance Index: -5.4100
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0615
    Cell Significance Index: -7.9400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0683
    Cell Significance Index: -19.6500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0997
    Cell Significance Index: -7.6500
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.1040
    Cell Significance Index: -2.6000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1045
    Cell Significance Index: -6.7400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1072
    Cell Significance Index: -15.5900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1363
    Cell Significance Index: -3.8100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1860
    Cell Significance Index: -8.7400
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.2205
    Cell Significance Index: -3.6900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2273
    Cell Significance Index: -23.6700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2656
    Cell Significance Index: -16.3200
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2729
    Cell Significance Index: -21.6100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.2921
    Cell Significance Index: -18.4100
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.3077
    Cell Significance Index: -8.2300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.3111
    Cell Significance Index: -20.9200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.3545
    Cell Significance Index: -18.6100
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.3642
    Cell Significance Index: -18.4100
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.3712
    Cell Significance Index: -12.9000
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.3951
    Cell Significance Index: -10.3900
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.4047
    Cell Significance Index: -7.4800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.4168
    Cell Significance Index: -23.3900
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.4172
    Cell Significance Index: -4.7400
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.4190
    Cell Significance Index: -10.7700
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.4350
    Cell Significance Index: -19.2400
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.4427
    Cell Significance Index: -27.1400
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.4614
    Cell Significance Index: -13.5900
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: -0.4919
    Cell Significance Index: -5.0900
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.4935
    Cell Significance Index: -20.2200
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.5047
    Cell Significance Index: -10.4700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.5109
    Cell Significance Index: -19.3500
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.5213
    Cell Significance Index: -19.1400
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.5590
    Cell Significance Index: -14.2800
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.5845
    Cell Significance Index: -4.9100
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.5925
    Cell Significance Index: -19.4000
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.5951
    Cell Significance Index: -13.0300

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. **Enzyme specificity**: FUCA1 is specifically responsible for the degradation of alpha-L-fucose-containing glycoconjugates, which are essential for the functioning of various immune cells and tissues. 2. **Cellular localization**: FUCA1 is localized to the lysosomal lumen, Golgi apparatus, and cytoplasm, where it can interact with various glycoconjugates and regulate their degradation. 3. **Expression patterns**: FUCA1 is expressed in various cell types, including immune cells (e.g., myeloid leukocytes, Kupffer cells), epithelial cells (e.g., bladder urothelial cells, enterocytes), and trophoblasts (e.g., placental villous trophoblasts). 4. **Substrate specificity**: FUCA1 has a broad substrate specificity, degrading various alpha-L-fucose-containing glycoconjugates, including glycolipids, glycosaminoglycans, and glycoproteins. **Pathways and Functions:** 1. **Immune response**: FUCA1 plays a crucial role in regulating immune homeostasis by degrading alpha-L-fucose-containing glycoconjugates on the surface of immune cells, such as myeloid leukocytes and Kupffer cells. This process modulates the activity of these cells, influencing their ability to recognize and respond to pathogens. 2. **Inflammation regulation**: FUCA1 can regulate the production of pro-inflammatory and anti-inflammatory cytokines by modulating the activity of immune cells. By degrading alpha-L-fucose-containing glycoconjugates, FUCA1 can influence the balance between these cytokines, thereby regulating inflammation. 3. **Glycosylation and protein modification**: FUCA1 is involved in the regulation of glycosylation and protein modification by degrading alpha-L-fucose-containing glycoconjugates. This process can influence the activity and stability of various proteins, including those involved in immune response and inflammation. 4. **Metabolic processes**: FUCA1 is also involved in the degradation of glycolipids and glycosaminoglycans, which are essential components of the cell membrane and extracellular matrix. This process can influence cellular metabolism and signaling pathways. **Clinical Significance:** 1. **Immune-related disorders**: Dysregulation of FUCA1 has been implicated in various immune-related disorders, including autoimmune diseases (e.g., rheumatoid arthritis, lupus) and inflammatory conditions (e.g., atherosclerosis, inflammatory bowel disease). 2. **Cancer**: FUCA1 has been shown to be overexpressed in various types of cancer, including breast, lung, and colon cancer. This overexpression can contribute to cancer progression and metastasis by regulating immune homeostasis and inflammation. 3. **Neurological disorders**: FUCA1 has been implicated in various neurological disorders, including Alzheimer's disease and Parkinson's disease. Dysregulation of FUCA1 can influence the accumulation of amyloid-beta and alpha-synuclein, respectively, which are hallmark features of these diseases. 4. **Infectious diseases**: FUCA1 can also play a role in the regulation of immune response to infections, particularly those caused by bacteria and viruses. Dysregulation of FUCA1 can influence the ability of immune cells to recognize and respond to pathogens. In conclusion, alpha-L-fucosidase 1 (FUCA1) is a crucial enzyme involved in various cellular processes, including immune response, metabolism, and protein modification. Its dysregulation has been implicated in various diseases, including immune-related disorders, cancer, and neurological disorders. Further research is needed to fully understand the role of FUCA1 in human health and disease.

Genular Protein ID: 3191407321

Symbol: FUCO_HUMAN

Name: Alpha-L-fucosidase I

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 8504303

Title: Fucosidosis: four new mutations and a new polymorphism.

PubMed ID: 8504303

DOI: 10.1093/hmg/2.4.423

PubMed ID: 12880961

Title: Neuroblastoma oligo-capping cDNA project: toward the understanding of the genesis and biology of neuroblastoma.

PubMed ID: 12880961

DOI: 10.1016/s0304-3835(03)00085-5

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

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: 2803312

Title: Human alpha-L-fucosidase: complete coding sequence from cDNA clones.

PubMed ID: 2803312

DOI: 10.1016/0006-291x(89)91739-7

PubMed ID: 2174090

Title: Sequencing and expression of a full-length cDNA for human alpha-L-fucosidase.

PubMed ID: 2174090

DOI: 10.1007/bf01799583

PubMed ID: 2983333

Title: Molecular cloning of a cDNA for human alpha-L-fucosidase.

PubMed ID: 2983333

DOI: 10.1073/pnas.82.4.1262

PubMed ID: 6096099

Title: Chromogenic immunodetection of human serum albumin and alpha-L-fucosidase clones in a human hepatoma cDNA expression library.

PubMed ID: 6096099

DOI: 10.1089/dna.1.1984.3.437

PubMed ID: 2894306

Title: Molecular biology of the alpha-6L-fucosidase gene and fucosidosis.

PubMed ID: 2894306

DOI: 10.1159/000469189

PubMed ID: 9741689

Title: Degradation of blood group A glycolipid A-6-2 by normal and mutant human skin fibroblasts.

PubMed ID: 9741689

PubMed ID: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 8399358

Title: Pedigree analysis of alpha-L-fucosidase gene mutations in a fucosidosis family.

PubMed ID: 8399358

DOI: 10.1016/0925-4439(93)90065-9

PubMed ID: 7874128

Title: A missense mutation (S63L) in alpha-L-fucosidase is responsible for fucosidosis in an Italian patient.

PubMed ID: 7874128

PubMed ID: 7815431

Title: Molecular basis of the common electrophoretic polymorphism (Fu1/Fu2) in human alpha-L-fucosidase.

PubMed ID: 7815431

DOI: 10.1136/jmg.31.8.659-a

PubMed ID: 9762612

Title: A fucosidosis patient with relative longevity and a missense mutation in exon 7 of the alpha-fucosidase gene.

PubMed ID: 9762612

DOI: 10.1023/a:1005405222252

PubMed ID: 10094192

Title: Spectrum of mutations in fucosidosis.

PubMed ID: 10094192

DOI: 10.1038/sj.ejhg.5200272

PubMed ID: 12408193

Title: A novel FUCA1 mutation causing fucosidosis in a Chinese boy.

PubMed ID: 12408193

DOI: 10.1023/a:1020116220624

Sequence Information:

  • Length: 466
  • Mass: 53689
  • Checksum: D9A38ECC7BADCBBB
  • Sequence:
  • MRAPGMRSRP AGPALLLLLL FLGAAESVRR AQPPRRYTPD WPSLDSRPLP AWFDEAKFGV 
    FIHWGVFSVP AWGSEWFWWH WQGEGRPQYQ RFMRDNYPPG FSYADFGPQF TARFFHPEEW 
    ADLFQAAGAK YVVLTTKHHE GFTNWPSPVS WNWNSKDVGP HRDLVGELGT ALRKRNIRYG 
    LYHSLLEWFH PLYLLDKKNG FKTQHFVSAK TMPELYDLVN SYKPDLIWSD GEWECPDTYW 
    NSTNFLSWLY NDSPVKDEVV VNDRWGQNCS CHHGGYYNCE DKFKPQSLPD HKWEMCTSID 
    KFSWGYRRDM ALSDVTEESE IISELVQTVS LGGNYLLNIG PTKDGLIVPI FQERLLAVGK 
    WLSINGEAIY ASKPWRVQWE KNTTSVWYTS KGSAVYAIFL HWPENGVLNL ESPITTSTTK 
    ITMLGIQGDL KWSTDPDKGL FISLPQLPPS AVPAEFAWTI KLTGVK

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.