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General Information
- Evidence
- Gene
- mRNA
- CDS
- Protein
- PTM
- Enzyme
- PPi
- Pathway
- Structural
- Domain
- Ontology
- SNP
- Drug
- External Links
Evidence Information
| Pubmed ID | Year | Sample Information | Techniques | Mechanism | Fold Change | Remark |
|---|---|---|---|---|---|---|
| 23965968 | 2013 | Cell line : - Source : Complejo Hospitalario Universitario de Vigo (CHUVI, Vigo, Spain) Sample Type : - No. of Sample : 31 Stage : Duke Stage A-C | real time RT-PCR,Western Blotting | Down-regulation | - | Diminished FUCA1 mRNA levels in tumors, suggesting that expression of tissue alpha-L-fucosidase could be regulated at transcriptional level in colorectal cancer. |
Gene Details
| Gene Type | protein coding |
|---|---|
| Gene Family | - |
| Description | 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] | Chromosome | 1 |
| Location | 1p34 |
| Start | 24171567 |
| End | 24194859 |
| Strand | - |
| Gene Sequence | Download Select all |
| Length | 23293 |
| OMIM ID | 612280 |
| HGNC ID | HGNC:4006 |
| Unigene ID | Hs.370858 |
| Ensembl ID | ENSG00000179163 |
| PharmGKB ID | PA28422 |
mRNA Information
| mRNA ID | NM_000147.4 |
|---|---|
| Exon | join(1..472,2745..2879,5099..5236,8467..8572,13810..14010, 19531..19721,22197..22296,22515..23293) | mRNA Sequence | Download Select all |
| Length | 2133 |
Protein Information
| Protein ID | NP_000138.2 |
|---|---|
| Protein Name | fucosidase, alpha-L- 1, tissue |
| Molecular Wt. (Da) | 0 |
| Protein Sequence | Download Select all |
| Length | 466 |
| Uniprot ID | P20936 |
| Ensembl Protein ID | ENSP00000274376 |
Post-translational Modification Information (Source : HPRD)
No matching records could be found.
Enzyme Information
No matching records could be found.
PPi Information
(Click to view network : Source STRING) View
No matching records from HPRD source could be found.
Pathway Information
| Pathway Name | Pathway ID |
|---|---|
| Lysosome | hsa04142 |
| Other glycan degradation | hsa00511 |
Structure Information
No matching records could be found.
Domain Information
| ID | Location | Description |
|---|---|---|
| smart00812 | 31-413 | Alpha_L_fucos |
| cl07893 | 31-413 | AmyAc_family superfamily |
| pfam01120 | 40-371 | Alpha_L_fucos |
| COG3669 | 63-383 | AfuC |
Ontology Information
| HPRD ID | 7362 |
|---|---|
| Molecular Class | Enzyme: Hydrolase |
| Molecular Function | Guanyl-nucleotide exchange factor activity (GO:0005085) |
| Biological Process | Cell communication (GO:0007154); Signal transduction (GO:0007165) |
Drug Information
No matching records could be found.