| Gene Information | |
|---|---|
| Gene Name | ARVCF |
| Organism | Homo sapiens (Human) |
| Gene Length | 962 |
| Protein Names | Splicing regulator ARVCF (Armadillo repeat protein deleted in velo-cardio-facial syndrome) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 645 ( ENSG00000099889 ) |
| Evolutionary Stage | Eumetazoa |
| AlphaFoldDB | O00192 |
| Gene Card | ARVCF |
| Uniprot ID | O00192 |
| Pfam | PF00514 |
| In ASD | no |
| Allosteric Prediction | no (-1.173198882) |
| Ortholog in Animals | Alpaca_ ARVCF ( ortholog_one2one ) Dog_ ARVCF ( ortholog_one2one ) GuineaPig_ ARVCF ( ortholog_one2one ) Macaque_ ARVCF ( ortholog_one2one ) Mouse_ Arvcf ( ortholog_one2one ) Pig_ ARVCF ( ortholog_one2one ) Rat_ Arvcf ( ortholog_one2one ) Rabbit_ ARVCF ( ortholog_one2one ) |
| Ohnologs | CTNND1 |
| Paralogs | CTNND1, PKP1, PKP3, PKP4, CTNND2, PKP2 |
| Tissue | NA |
| Tissue Specificity | Found in all the examined tissues including heart, brain, liver and kidney. Found at low level in lung. Expressed in dermal connective tissue, salivary gland duct and in the corneal layer (at protein level) (PubMed:30479852). Expressed in arrector pili muscle (at protein level) (PubMed:29034528). High levels detected in epithelial cells with lower levels found in fibroblasts and T lymphocytes (PubMed:10725230). {ECO:0000269|PubMed:10725230, ECO:0000269|PubMed:29034528, ECO:0000269|PubMed:30479852}. |
| Pharmacological Animal Models | 0.000730(Chimpanzee);NULL(Mouse);NULL(Rat);NULL(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs2240717 rs2073748 rs16982871 rs165815 rs34638476 rs34687532 rs34445280 |
| Subcellular location [CC] | Cell junction, adherens junction {ECO:0000269|PubMed:10725230, ECO:0000269|PubMed:24644279, ECO:0000305|PubMed:30479852}. Nucleus {ECO:0000269|PubMed:10725230, ECO:0000269|PubMed:24644279}. Cytoplasm {ECO:0000269|PubMed:24644279}. Note=In heart, localizes at area composita, the mixed-type junctional structure composed of both desmosomal and adherens junctional proteins. {ECO:0000250|UniProtKB:B4F7F3}. |
| Mouse PG classification | NA |
| click here to return to the previous page | |