DEFB1 (defensin beta 1)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1672
Gene name Gene Name - the full gene name approved by the HGNC.
Defensin beta 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DEFB1
Synonyms (NCBI Gene) Gene synonyms aliases
BD1, DEFB-1, DEFB101, HBD1
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8p23.1
Summary Summary of gene provided in NCBI Entrez Gene.
Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 1, an antimicrobial peptide implicated in the resistance of epithel
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT755820 hsa-miR-186-5p Western blotting, qRT-PCR 36678471
MIRT755821 hsa-miR-340-5p Western blotting, qRT-PCR 36678471
MIRT931952 hsa-miR-3163 CLIP-seq
MIRT931953 hsa-miR-340 CLIP-seq
MIRT931954 hsa-miR-579 CLIP-seq
Transcription factors
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
HDAC1 Unknown 23185513
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0002227 Process Innate immune response in mucosa IBA 21873635
GO:0002227 Process Innate immune response in mucosa IDA 12860195
GO:0005515 Function Protein binding IPI 25122636, 32296183
GO:0005576 Component Extracellular region TAS
GO:0005615 Component Extracellular space IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
602056 2766 ENSG00000164825
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P60022
Protein name Beta-defensin 1 (BD-1) (hBD-1) (Defensin, beta 1)
Protein function Has bactericidal activity. May act as a ligand for C-C chemokine receptor CCR6. Positively regulates the sperm motility and bactericidal activity in a CCR6-dependent manner. Binds to CCR6 and triggers Ca2+ mobilization in the sperm which is impo
PDB 1E4S , 1IJU , 1IJV , 1KJ5 , 2NLB , 2NLC , 2NLD , 2NLE , 2NLF , 2NLG , 2NLH , 2NLP , 2NLQ , 2NLS , 2PLZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00711 Defensin_beta 33 → 68 Beta defensin Domain
Tissue specificity 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:00
Sequence 
MRTSYLLLFTLCLLLSEMASGGNFLTGLGHRSDHYNCVSSGGQCLYSACPIFTKIQGTCY
RGKAKCCK
Sequence length 68
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  ABC transporters
Staphylococcus aureus infection 		  Beta defensins
Defensins
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal
Disease term Disease name dbSNP ID References
Dermatitis Contact Dermatitis rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174 25724174
Prostate cancer Malignant neoplasm of prostate rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 17013881
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Mental depression Unipolar Depression, Major Depressive Disorder 29317604 ClinVar
Show/Hide Text Mining Associations (91)
Associations from Text Mining
Disease Name Relationship Type References
Abortion Habitual Associate 23583422
Acne Vulgaris Associate 11710922
Adenoma Oxyphilic Associate 15858144
Adenoma Pleomorphic Associate 18840281
Allergic Fungal Sinusitis Associate 19153309, 22508623
Alzheimer Disease Stimulate 24139179
Appendicitis Inhibit 24336024
Arthritis Psoriatic Associate 25332209
Asthma Associate 15696078, 22192168, 23185513, 33826097
Autoimmune Diseases Associate 19811257, 36535830