| Gene Information | |
|---|---|
| Gene Name | HMCN1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 5635 |
| Protein Names | Hemicentin-1 (Fibulin-6) (FIBL-6) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 987 ( ENSG00000143341 ) |
| Evolutionary Stage | Eumetazoa |
| AlphaFoldDB | NA |
| Gene Card | HMCN1 |
| Uniprot ID | Q96RW7 |
| Pfam | PF12662; PF07645; PF07474; PF07679; PF00090 |
| In ASD | no |
| Allosteric Prediction | no (-1.414170125) |
| Ortholog in Animals | Alpaca_ HMCN1 ( ortholog_one2one ) Dog_ HMCN1 ( ortholog_one2one ) GuineaPig_ HMCN1 ( ortholog_one2one ) Macaque_ HMCN1 ( ortholog_one2one ) Mouse_ Hmcn1 ( ortholog_one2one ) Pig_ HMCN1 ( ortholog_one2one ) Rat_ Hmcn1 ( ortholog_one2one ) Rabbit_ HMCN1 ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | OBSCN, PALLD, MYPN, IGFN1, CCDC141, ALPK3, SPEG, SPEGNB, MYOT |
| Tissue | aorta |
| Tissue Specificity | Expressed in hair follicles and in the dermis (at protein level). {ECO:0000269|PubMed:32035013}.; [Isoform 1]: Expressed in skin fibroblasts and retinal pigment epithelium (RPE) cells. {ECO:0000269|PubMed:14570714}.; [Isoform 2]: Expressed in skin fibroblasts and retinal pigment epithelium (RPE) cells. {ECO:0000269|PubMed:14570714}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs7539719 rs12239296 rs12067376 rs12129650 rs10798035 rs41317489 rs10911825 rs6693069 rs41317507 rs121434382 |
| Subcellular location [CC] | Secreted, extracellular space, extracellular matrix, basement membrane {ECO:0000250|UniProtKB:D3YXG0}. Cytoplasm {ECO:0000250|UniProtKB:D3YXG0}. Cell junction {ECO:0000250|UniProtKB:D3YXG0}. Cleavage furrow {ECO:0000250|UniProtKB:D3YXG0}. Note=Has been detected in the glomerular basement membrane in one study. However, another study found expression in the glomerular mesangial matrix but not in the glomerular basement membrane. The antibody used to determine subcellular location does not distinguish between HMCN1 and HMCN2. {ECO:0000250|UniProtKB:D3YXG0}. |
| Mouse PG classification | NA |
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