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Protein

Tissue alpha-L-fucosidase

Gene

FUCA1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Alpha-L-fucosidase is responsible for hydrolyzing the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins.

Catalytic activityi

An alpha-L-fucoside + H2O = L-fucose + an alcohol.PROSITE-ProRule annotation

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei296May be important for catalysis1

GO - Molecular functioni

  • alpha-L-fucosidase activity Source: UniProtKB

GO - Biological processi

  • fucose metabolic process Source: UniProtKB
  • glycosaminoglycan catabolic process Source: UniProtKB
  • glycoside catabolic process Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Glycosidase, Hydrolase

Enzyme and pathway databases

BioCyciZFISH:HS11358-MONOMER.
BRENDAi3.2.1.51. 2681.
ReactomeiR-HSA-6798695. Neutrophil degranulation.
R-HSA-975578. Reactions specific to the complex N-glycan synthesis pathway.
SABIO-RKP04066.

Protein family/group databases

CAZyiGH29. Glycoside Hydrolase Family 29.

Chemistry databases

SwissLipidsiSLP:000001407.

Names & Taxonomyi

Protein namesi
Recommended name:
Tissue alpha-L-fucosidase (EC:3.2.1.51)
Alternative name(s):
Alpha-L-fucosidase I
Alpha-L-fucoside fucohydrolase 1
Short name:
Alpha-L-fucosidase 1
Gene namesi
Name:FUCA1
ORF Names:Nbla10230
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:4006. FUCA1.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • extracellular exosome Source: UniProtKB
  • lysosomal lumen Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Lysosome

Pathology & Biotechi

Involvement in diseasei

Fucosidosis (FUCA1D)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive lysosomal storage disease characterized by accumulation of fucose-containing glycolipids and glycoproteins in various tissues. Clinical signs include facial dysmorphism, dysostosis multiplex, moderate hepatomegaly, severe intellectual deficit, deafness, and according to age, angiokeratomas.
See also OMIM:230000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00244265G → D in FUCA1D; loss of activity. 1 Publication1
Natural variantiVAR_00244368S → L in FUCA1D. 1 Publication1
Natural variantiVAR_016235410L → R in FUCA1D; less than 1% of residual activity. 1 PublicationCorresponds to variant rs80358199dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi2517.
MalaCardsiFUCA1.
MIMi230000. phenotype.
OpenTargetsiENSG00000179163.
Orphaneti349. Fucosidosis.
PharmGKBiPA28422.

Chemistry databases

ChEMBLiCHEMBL4176.

Polymorphism and mutation databases

BioMutaiFUCA1.
DMDMi156631012.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 31Sequence analysisAdd BLAST31
ChainiPRO_000001030832 – 466Tissue alpha-L-fucosidaseAdd BLAST435

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei170PhosphothreonineCombined sources1
Glycosylationi241N-linked (GlcNAc...)1 Publication1
Glycosylationi268N-linked (GlcNAc...)Sequence analysis1
Glycosylationi382N-linked (GlcNAc...)1 Publication1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

EPDiP04066.
MaxQBiP04066.
PaxDbiP04066.
PeptideAtlasiP04066.
PRIDEiP04066.

PTM databases

iPTMnetiP04066.
PhosphoSitePlusiP04066.

Expressioni

Gene expression databases

BgeeiENSG00000179163.
CleanExiHS_FUCA1.
GenevisibleiP04066. HS.

Organism-specific databases

HPAiHPA046542.

Interactioni

Subunit structurei

Homotetramer.

Protein-protein interaction databases

BioGridi108793. 13 interactors.
IntActiP04066. 4 interactors.
STRINGi9606.ENSP00000363603.

Chemistry databases

BindingDBiP04066.

Structurei

3D structure databases

ProteinModelPortaliP04066.
SMRiP04066.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the glycosyl hydrolase 29 family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG3340. Eukaryota.
COG3669. LUCA.
GeneTreeiENSGT00440000035378.
HOGENOMiHOG000029598.
HOVERGENiHBG002155.
InParanoidiP04066.
KOiK01206.
OMAiLPVEFAW.
OrthoDBiEOG091G085V.
PhylomeDBiP04066.
TreeFamiTF313034.

Family and domain databases

Gene3Di2.60.40.1180. 1 hit.
3.20.20.80. 1 hit.
InterProiIPR016286. FUC_metazoa-typ.
IPR028755. FUCA1.
IPR031919. Fucosidase_C.
IPR000933. Glyco_hydro_29.
IPR018526. Glyco_hydro_29_CS.
IPR013780. Glyco_hydro_b.
IPR013781. Glyco_hydro_catalytic_dom.
IPR017853. Glycoside_hydrolase_SF.
[Graphical view]
PANTHERiPTHR10030. PTHR10030. 1 hit.
PTHR10030:SF2. PTHR10030:SF2. 1 hit.
PfamiPF01120. Alpha_L_fucos. 1 hit.
PF16757. Fucosidase_C. 1 hit.
[Graphical view]
PIRSFiPIRSF001092. Alpha-L-fucosidase. 1 hit.
PRINTSiPR00741. GLHYDRLASE29.
SMARTiSM00812. Alpha_L_fucos. 1 hit.
[Graphical view]
SUPFAMiSSF51445. SSF51445. 1 hit.
PROSITEiPS00385. ALPHA_L_FUCOSIDASE. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P04066-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MRAPGMRSRP AGPALLLLLL FLGAAESVRR AQPPRRYTPD WPSLDSRPLP
60 70 80 90 100
AWFDEAKFGV FIHWGVFSVP AWGSEWFWWH WQGEGRPQYQ RFMRDNYPPG
110 120 130 140 150
FSYADFGPQF TARFFHPEEW ADLFQAAGAK YVVLTTKHHE GFTNWPSPVS
160 170 180 190 200
WNWNSKDVGP HRDLVGELGT ALRKRNIRYG LYHSLLEWFH PLYLLDKKNG
210 220 230 240 250
FKTQHFVSAK TMPELYDLVN SYKPDLIWSD GEWECPDTYW NSTNFLSWLY
260 270 280 290 300
NDSPVKDEVV VNDRWGQNCS CHHGGYYNCE DKFKPQSLPD HKWEMCTSID
310 320 330 340 350
KFSWGYRRDM ALSDVTEESE IISELVQTVS LGGNYLLNIG PTKDGLIVPI
360 370 380 390 400
FQERLLAVGK WLSINGEAIY ASKPWRVQWE KNTTSVWYTS KGSAVYAIFL
410 420 430 440 450
HWPENGVLNL ESPITTSTTK ITMLGIQGDL KWSTDPDKGL FISLPQLPPS
460
AVPAEFAWTI KLTGVK
Length:466
Mass (Da):53,689
Last modified:July 24, 2007 - v4
Checksum:iD9A38ECC7BADCBBB
GO

Sequence cautioni

The sequence AAA35519 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAA52481 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAH17338 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAG37210 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence CAA25646 differs from that shown. Translation of X01390 sequence produces a larger peptide than that shown in CAA25646.1.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti54 – 56DEA → NEV in BAC04002 (PubMed:14702039).Curated3
Sequence conflicti74S → T no nucleotide entry (PubMed:2174090).Curated1
Sequence conflicti76 – 77WF → FL in AAA52482 (PubMed:2983333).Curated2
Sequence conflicti76 – 77WF → FL in CAA25646 (PubMed:6096099).Curated2
Sequence conflicti93 – 114Missing in BAC04002 (PubMed:14702039).CuratedAdd BLAST22
Sequence conflicti127A → T in BAC04002 (PubMed:14702039).Curated1
Sequence conflicti171A → G in BAC04002 (PubMed:14702039).Curated1
Sequence conflicti244N → D in BAC04002 (PubMed:14702039).Curated1
Sequence conflicti427Q → P in AAA52482 (PubMed:2983333).Curated1

Polymorphismi

There are two common alleles of FUCA1; FUCA1*1; also known as Fu1; has Arg-281 and FUCA1*2; also known as Fu2; has Gln-281.

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0491062R → W.Corresponds to variant rs2070955dbSNPEnsembl.1
Natural variantiVAR_01623310P → R.Corresponds to variant rs2070956dbSNPEnsembl.1
Natural variantiVAR_00244265G → D in FUCA1D; loss of activity. 1 Publication1
Natural variantiVAR_00244368S → L in FUCA1D. 1 Publication1
Natural variantiVAR_049107146P → L.Corresponds to variant rs2228424dbSNPEnsembl.1
Natural variantiVAR_049108260V → I.Corresponds to variant rs665dbSNPEnsembl.1
Natural variantiVAR_016234269C → S.3 PublicationsCorresponds to variant rs1126512dbSNPEnsembl.1
Natural variantiVAR_002444286Q → R in allele FUCA1*2. 5 PublicationsCorresponds to variant rs13551dbSNPEnsembl.1
Natural variantiVAR_016235410L → R in FUCA1D; less than 1% of residual activity. 1 PublicationCorresponds to variant rs80358199dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M80815
, M80809, M80810, M80811, M80812, M80813, M80814 Genomic DNA. Translation: AAA52481.1. Different initiation.
AB074175 mRNA. Translation: BAE45738.1.
AK092914 mRNA. Translation: BAC04002.1.
AK314649 mRNA. Translation: BAG37210.1. Different initiation.
AL590728 Genomic DNA. Translation: CAH74004.2.
BC017338 mRNA. Translation: AAH17338.1. Different initiation.
M29877 mRNA. Translation: AAA35519.1. Different initiation.
M10355 mRNA. Translation: AAA52482.1.
X01390 mRNA. Translation: CAA25646.1. Sequence problems.
CCDSiCCDS244.2.
PIRiA33427. HWHUFA.
RefSeqiNP_000138.2. NM_000147.4.
UniGeneiHs.370858.

Genome annotation databases

EnsembliENST00000374479; ENSP00000363603; ENSG00000179163.
GeneIDi2517.
KEGGihsa:2517.
UCSCiuc001bie.5. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M80815
, M80809, M80810, M80811, M80812, M80813, M80814 Genomic DNA. Translation: AAA52481.1. Different initiation.
AB074175 mRNA. Translation: BAE45738.1.
AK092914 mRNA. Translation: BAC04002.1.
AK314649 mRNA. Translation: BAG37210.1. Different initiation.
AL590728 Genomic DNA. Translation: CAH74004.2.
BC017338 mRNA. Translation: AAH17338.1. Different initiation.
M29877 mRNA. Translation: AAA35519.1. Different initiation.
M10355 mRNA. Translation: AAA52482.1.
X01390 mRNA. Translation: CAA25646.1. Sequence problems.
CCDSiCCDS244.2.
PIRiA33427. HWHUFA.
RefSeqiNP_000138.2. NM_000147.4.
UniGeneiHs.370858.

3D structure databases

ProteinModelPortaliP04066.
SMRiP04066.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108793. 13 interactors.
IntActiP04066. 4 interactors.
STRINGi9606.ENSP00000363603.

Chemistry databases

BindingDBiP04066.
ChEMBLiCHEMBL4176.
SwissLipidsiSLP:000001407.

Protein family/group databases

CAZyiGH29. Glycoside Hydrolase Family 29.

PTM databases

iPTMnetiP04066.
PhosphoSitePlusiP04066.

Polymorphism and mutation databases

BioMutaiFUCA1.
DMDMi156631012.

Proteomic databases

EPDiP04066.
MaxQBiP04066.
PaxDbiP04066.
PeptideAtlasiP04066.
PRIDEiP04066.

Protocols and materials databases

DNASUi2517.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000374479; ENSP00000363603; ENSG00000179163.
GeneIDi2517.
KEGGihsa:2517.
UCSCiuc001bie.5. human.

Organism-specific databases

CTDi2517.
DisGeNETi2517.
GeneCardsiFUCA1.
HGNCiHGNC:4006. FUCA1.
HPAiHPA046542.
MalaCardsiFUCA1.
MIMi230000. phenotype.
612280. gene.
neXtProtiNX_P04066.
OpenTargetsiENSG00000179163.
Orphaneti349. Fucosidosis.
PharmGKBiPA28422.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3340. Eukaryota.
COG3669. LUCA.
GeneTreeiENSGT00440000035378.
HOGENOMiHOG000029598.
HOVERGENiHBG002155.
InParanoidiP04066.
KOiK01206.
OMAiLPVEFAW.
OrthoDBiEOG091G085V.
PhylomeDBiP04066.
TreeFamiTF313034.

Enzyme and pathway databases

BioCyciZFISH:HS11358-MONOMER.
BRENDAi3.2.1.51. 2681.
ReactomeiR-HSA-6798695. Neutrophil degranulation.
R-HSA-975578. Reactions specific to the complex N-glycan synthesis pathway.
SABIO-RKP04066.

Miscellaneous databases

GeneWikiiFucosidase.
GenomeRNAii2517.
PROiP04066.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000179163.
CleanExiHS_FUCA1.
GenevisibleiP04066. HS.

Family and domain databases

Gene3Di2.60.40.1180. 1 hit.
3.20.20.80. 1 hit.
InterProiIPR016286. FUC_metazoa-typ.
IPR028755. FUCA1.
IPR031919. Fucosidase_C.
IPR000933. Glyco_hydro_29.
IPR018526. Glyco_hydro_29_CS.
IPR013780. Glyco_hydro_b.
IPR013781. Glyco_hydro_catalytic_dom.
IPR017853. Glycoside_hydrolase_SF.
[Graphical view]
PANTHERiPTHR10030. PTHR10030. 1 hit.
PTHR10030:SF2. PTHR10030:SF2. 1 hit.
PfamiPF01120. Alpha_L_fucos. 1 hit.
PF16757. Fucosidase_C. 1 hit.
[Graphical view]
PIRSFiPIRSF001092. Alpha-L-fucosidase. 1 hit.
PRINTSiPR00741. GLHYDRLASE29.
SMARTiSM00812. Alpha_L_fucos. 1 hit.
[Graphical view]
SUPFAMiSSF51445. SSF51445. 1 hit.
PROSITEiPS00385. ALPHA_L_FUCOSIDASE. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiFUCO_HUMAN
AccessioniPrimary (citable) accession number: P04066
Secondary accession number(s): B2RBG3
, Q14334, Q14335, Q3LID0, Q8NAC2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1986
Last sequence update: July 24, 2007
Last modified: November 30, 2016
This is version 179 of the entry and version 4 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Glycosyl hydrolases
    Classification of glycosyl hydrolase families and list of entries
  2. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.