| Gene Information | |
|---|---|
| Gene Name | HBD1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 68 |
| Protein Names | Beta-defensin 1 (BD-1) (hBD-1) (Defensin, beta 1) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | P60022 |
| Gene Card | DEFB1 |
| Uniprot ID | P60022 |
| Pfam | PF00711 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Blood plasma. Sperm. Highly expressed in the lower head and midpiece of sperm. Significantly reduced levels found in the sperms of asthenozoospermia and leukocytospermia patients (at protein level). {ECO:0000269|PubMed:25122636, ECO:0000269|PubMed:7628632}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 1E4S (NMR - ) 1IJU (X-ray 1.40A ) 1IJV (X-ray 1.20A ) 1KJ5 (NMR - ) 2NLB (X-ray 1.85A ) 2NLC (X-ray 1.65A ) 2NLD (X-ray 1.49A ) 2NLE (X-ray 1.35A ) 2NLF (X-ray 1.45A ) 2NLG (X-ray 1.65A ) 2NLH (X-ray 1.85A ) 2NLP (X-ray 1.85A ) 2NLQ (X-ray 1.80A ) 2NLS (X-ray 0.98A ) 2PLZ (X-ray 1.36A ) |
| DBSNP | rs2738047 rs1800967 rs1800968 |
| Subcellular location [CC] | Secreted {ECO:0000269|PubMed:7628632}. Membrane {ECO:0000269|PubMed:23938203}. Note=Associates with tumor cell membrane-derived microvesicles (PubMed:23938203). {ECO:0000269|PubMed:23938203}. |
| Mouse PG classification | NA |
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