Seroatlas · Human Serome Atlas

FUCA1

Tissue alpha-L-fucosidase

Also known as: FUCO_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: P04066
Gene: FUCA1
Ensembl: ENSG00000179163
Chromosome: 1
Canonical length: 466 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location: Vesicles
Secretome location: Intracellular and membrane
Quaternary structure: Homotetramer

OverviewNCBI Gene

The protein encoded by this gene is a lysosomal enzyme involved in the degradation of fucose-containing glycoproteins and glycolipids. Mutations in this gene are associated with fucosidosis (FUCA1D), which is an autosomal recessive lysosomal storage disease. A pseudogene of this locus is present on chr 2.[provided by RefSeq, Oct 2009]

Canonical amino-acid sequenceUniProt

466 residues, UniProt reviewed canonical sequence.

>P04066|FUCA1
     1  MRAPGMRSRP AGPALLLLLL FLGAAESVRR AQPPRRYTPD WPSLDSRPLP AWFDEAKFGV
    61  FIHWGVFSVP AWGSEWFWWH WQGEGRPQYQ RFMRDNYPPG FSYADFGPQF TARFFHPEEW
   121  ADLFQAAGAK YVVLTTKHHE GFTNWPSPVS WNWNSKDVGP HRDLVGELGT ALRKRNIRYG
   181  LYHSLLEWFH PLYLLDKKNG FKTQHFVSAK TMPELYDLVN SYKPDLIWSD GEWECPDTYW
   241  NSTNFLSWLY NDSPVKDEVV VNDRWGQNCS CHHGGYYNCE DKFKPQSLPD HKWEMCTSID
   301  KFSWGYRRDM ALSDVTEESE IISELVQTVS LGGNYLLNIG PTKDGLIVPI FQERLLAVGK
   361  WLSINGEAIY ASKPWRVQWE KNTTSVWYTS KGSAVYAIFL HWPENGVLNL ESPITTSTTK
   421  ITMLGIQGDL KWSTDPDKGL FISLPQLPPS AVPAEFAWTI KLTGVK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FUCA1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.25
Highest tissue expression: 157 nTPM

Expression across tissuesHPA

Tissue

lymph node: 157 nTPM
rectum: 132 nTPM
colon: 116 nTPM
epididymis: 107 nTPM
liver: 98 nTPM
tonsil: 88 nTPM

Single-cell type

syncytiotrophoblasts: 251 nCPM
kupffer cells: 250 nCPM
cytotrophoblasts: 241 nCPM
enterocytes: 209 nCPM
colonocytes: 188 nCPM
hofbauer cells: 180 nCPM

Immune cell

classical monocyte: 101 nTPM
intermediate monocyte: 100 nTPM
non-classical monocyte: 92 nTPM
total PBMC: 65 nTPM
basophil: 55 nTPM
eosinophil: 52 nTPM

Brain region

choroid plexus: 42 nTPM
white matter: 18 nTPM
thalamus: 15 nTPM
hypothalamus: 13 nTPM
pons: 12 nTPM
medulla oblongata: 11 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FUCA1.

Disease | AllUniProt

Conditions FUCA1 is implicated in, by any mechanism.

Fucosidosis (FUCA1D) MIM:230000

Disease | GeneticClinVar

88 pathogenic / likely-pathogenic of 499 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.94
gnomAD pLI: 0
gnomAD missense Z: 0.85
DepMap mean gene effect: -0.13
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

alpha-L-fucosidase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads FUCA1 as an antibody target. Whether an autoantibody or antibody against FUCA1 could matter depends on whether native FUCA1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

FUCA1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label FUCA1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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