| Gene Information | |
|---|---|
| Gene Name | ELNR1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 677 |
| Protein Names | Beta-galactosidase (EC 3.2.1.23) (Acid beta-galactosidase) (Lactase) (Elastin receptor 1) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | P16278 |
| Gene Card | GLB1 |
| Uniprot ID | P16278 |
| Pfam | PF13364; PF01301 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Detected in placenta (at protein level) (PubMed:8383699). Detected in fibroblasts and testis (PubMed:2511208). {ECO:0000269|PubMed:2511208, ECO:0000269|PubMed:8383699}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 3THC (X-ray 1.80A ) 3THD (X-ray 1.79A ) 3WEZ (X-ray 2.11A ) 3WF0 (X-ray 2.20A ) 3WF1 (X-ray 2.00A ) 3WF2 (X-ray 2.30A ) 3WF3 (X-ray 2.15A ) 3WF4 (X-ray 2.30A ) |
| DBSNP | rs7637099 rs72555358 rs780523881 rs72555390 rs756878418 rs72555392 rs572237881 rs72555370 rs72555393 rs1553612220 rs72555364 rs35289681 rs879050821 rs28934274 rs886042079 rs1553612189 rs773562141 rs747305905 rs192732174 rs192732174 rs778700089 rs376710410 rs397515617 rs756575833 rs72555360 rs189115557 rs72555366 rs886042815 rs746766232 rs1553610553 rs377174858 rs1214295886 rs376663785 rs72555362 rs745386663 rs72555361 rs781658798 rs752177002 rs749980306 rs72555369 rs200181401 rs758203004 rs267599773 rs34421970 rs72555367 rs780724173 rs564428355 rs28934886 rs72555365 rs72555391 rs968221254 rs780232995 rs1172435886 rs1312626201 rs72555368 rs72555363 rs4302331 rs73826339 rs776327443 rs371582179 rs746350513 rs794727165 rs398123351 rs72555371 rs72555373 rs201807974 |
| Subcellular location [CC] | [Isoform 1]: Lysosome {ECO:0000269|PubMed:2511208, ECO:0000269|PubMed:3084261}.; [Isoform 2]: Cytoplasm, perinuclear region {ECO:0000269|PubMed:2511208}. Note=Localized to the perinuclear area of the cytoplasm but not to lysosomes. {ECO:0000269|PubMed:2511208}. |
| Mouse PG classification | NA |
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