Details for: FUCA1

Gene ID: 2517

Symbol: FUCA1

Ensembl ID: ENSG00000179163

Description: alpha-L-fucosidase 1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.94
    Marker Score: 2851
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 1.93
    Marker Score: 1933.5
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.91
    Marker Score: 7513
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 1.91
    Marker Score: 9149
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 1.85
    Marker Score: 2239
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 1.74
    Marker Score: 4389
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.66
    Marker Score: 57649
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 1.63
    Marker Score: 895
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 1.59
    Marker Score: 5003
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.46
    Marker Score: 167922
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 1.4
    Marker Score: 2157
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 1.28
    Marker Score: 32874
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 1.28
    Marker Score: 370
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.27
    Marker Score: 2901
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 1.26
    Marker Score: 2086
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 1.25
    Marker Score: 583
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 1.25
    Marker Score: 3337
  • Cell Name: lung secretory cell (CL1000272)
    Fold Change: 1.2
    Marker Score: 1066
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 1.17
    Marker Score: 1219
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 1.16
    Marker Score: 7395
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 1.15
    Marker Score: 2599
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 1.14
    Marker Score: 765
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 1.13
    Marker Score: 1595
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.12
    Marker Score: 4150
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 1.11
    Marker Score: 8290
  • Cell Name: decidual natural killer cell, human (CL0002343)
    Fold Change: 1.09
    Marker Score: 3023
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 1.08
    Marker Score: 9402
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 1.08
    Marker Score: 452
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 1.06
    Marker Score: 6434
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 1.06
    Marker Score: 1681
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: 1.06
    Marker Score: 1209
  • Cell Name: stem cell (CL0000034)
    Fold Change: 1.05
    Marker Score: 2504
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.04
    Marker Score: 1035
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.04
    Marker Score: 251699
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 1.03
    Marker Score: 3548
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71718
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47942
  • Cell Name: club cell (CL0000158)
    Fold Change: 0.99
    Marker Score: 1155
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.99
    Marker Score: 1805
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30394
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: 0.97
    Marker Score: 308
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 0.96
    Marker Score: 456
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: 0.95
    Marker Score: 1808
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2399
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.94
    Marker Score: 484
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.93
    Marker Score: 948
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.93
    Marker Score: 439
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 0.93
    Marker Score: 457
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.92
    Marker Score: 5243
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 0.91
    Marker Score: 4780
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2706
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.87
    Marker Score: 7675
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.86
    Marker Score: 5240
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.86
    Marker Score: 911
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.86
    Marker Score: 499
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.85
    Marker Score: 307.5
  • Cell Name: serous secreting cell (CL0000313)
    Fold Change: 0.85
    Marker Score: 340
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.83
    Marker Score: 239
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 0.83
    Marker Score: 796
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.81
    Marker Score: 554
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.81
    Marker Score: 1010
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.8
    Marker Score: 194
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.79
    Marker Score: 195
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.78
    Marker Score: 597
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1268
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 0.78
    Marker Score: 292
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.76
    Marker Score: 305
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.75
    Marker Score: 344
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.75
    Marker Score: 147
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.74
    Marker Score: 595
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.72
    Marker Score: 375
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.72
    Marker Score: 460
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.72
    Marker Score: 357
  • Cell Name: intraepithelial lymphocyte (CL0002496)
    Fold Change: 0.72
    Marker Score: 795
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 0.71
    Marker Score: 499
  • Cell Name: mucus secreting cell (CL0000319)
    Fold Change: 0.7
    Marker Score: 178
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.7
    Marker Score: 2922
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.69
    Marker Score: 10850
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.68
    Marker Score: 756
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.67
    Marker Score: 709
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.67
    Marker Score: 614
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 0.67
    Marker Score: 250
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.67
    Marker Score: 2375
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.66
    Marker Score: 170
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 0.66
    Marker Score: 4297
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.65
    Marker Score: 356
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.63
    Marker Score: 902
  • Cell Name: tracheobronchial goblet cell (CL0019003)
    Fold Change: 0.63
    Marker Score: 172
  • Cell Name: pulmonary ionocyte (CL0017000)
    Fold Change: 0.62
    Marker Score: 377.5
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.61
    Marker Score: 124
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.61
    Marker Score: 301
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.61
    Marker Score: 999
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.61
    Marker Score: 142
  • Cell Name: renal intercalated cell (CL0005010)
    Fold Change: 0.6
    Marker Score: 322
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.6
    Marker Score: 635
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.59
    Marker Score: 1069
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.59
    Marker Score: 391
  • Cell Name: enterocyte of epithelium proper of ileum (CL1000342)
    Fold Change: 0.58
    Marker Score: 168
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.58
    Marker Score: 383.5
  • Cell Name: kidney loop of Henle epithelial cell (CL1000909)
    Fold Change: 0.58
    Marker Score: 363

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Other Information

## Summary The FUCA1 gene encodes a protein called alpha-L-fucosidase 1, which is an enzyme involved in the synthesis of fucosylated glycans. Fucosylation is a complex and essential process that occurs on the surface of various cells and molecules, including glycoproteins and glycolipids. ## Key characteristics * The gene is located on chromosome 15q26.1. * It is a large gene with a length of approximately 10.7 kb. * It encodes a protein of 533 amino acids. * It is expressed in a variety of cell types, including bladder urothelial cells, Kupffer cells, placental villous trophoblast cells, enterocytes, myeloid leukocytes, kidney collecting duct principal cells, cell lines, and Hofbauer cells. ## Pathways and functions * The FUCA1 gene is involved in several important pathways, including: * Alpha-l-fucosidase activity * Asparagine n-linked glycosylation * Extracellular region * Fucose metabolic process * Glycolipid catabolic process * Glycosaminoglycan catabolic process * Glycoside catabolic process * Immune system * Innate immune system * Metabolism of proteins * N-glycan antennae elongation in the medial/trans-golgi * Neutrophil degranulation * Post-translational protein modification * Protein binding * These pathways are essential for the proper development and function of various tissues and organs, including the skin, immune system, and central nervous system. ## Clinical significance * Mutations in the FUCA1 gene have been linked to several human diseases, including: * Fanconi's syndrome * Hemolytic anemia * Diabetes * Cancer * These diseases are caused by mutations in genes that are involved in the synthesis of fucosylated glycans. * Understanding the function of the FUCA1 gene and its role in these diseases could lead to the development of new treatments.

Genular Protein ID: 3191407321

Symbol: FUCO_HUMAN

Name: Alpha-L-fucosidase I

UniProtKB Accession Codes:

P04066 B2RBG3 Q14334 Q14335 Q3LID0 Q8NAC2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CAZy 1 CCDS 1 CPTAC 1 CTD 1 ChEBI 12 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 15 EMDB 2 EPD 1 Ensembl 1 GO 12 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 2 PIR 1 PIRSF 1 PRINTS 1 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 2 RefSeq 1 Rhea 6 SABIO-RK 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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. For the full schema, download it here.