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Gene: DEFB1 (defensin beta 1) Homo sapiens
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Symbol: DEFB1
Name: defensin beta 1
Description: Exhibits CCR6 chemokine receptor binding activity and identical protein binding activity. Involved in several processes, including defense response to other organism; positive regulation of flagellated sperm motility involved in capacitation; and second-messenger-mediated signaling. Localizes to several cellular components, including extracellular space; microvesicle; and sperm midpiece. Implicated in asthma; chronic obstructive pulmonary disease; and lung disease. Biomarker of lung disease; pneumonia; pulmonary alveolar proteinosis; pulmonary fibrosis; and pulmonary sarcoidosis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BD-1; BD1; beta defensin 1; beta-defensin 1; beta-defensin-1; DEFB-1; DEFB101; defensin, beta 1; HBD1; MGC51822
Orthologs:
Mus musculus (house mouse) : Defb1 (defensin beta 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Defb1 (defensin beta 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : LOC102004444 (beta-defensin 1-like)
Pan paniscus (bonobo/pygmy chimpanzee) : DEFB1 (defensin beta 1)
Canis lupus familiaris (dog) : DEFB1 (defensin beta 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Defb1 (defensin beta 1)
Sus scrofa (pig) : DEFB1 (defensin beta 1)
Chlorocebus sabaeus (African green monkey) : DEFB1 (defensin beta 1)
Heterocephalus glaber (naked mole-rat) : Defb1 (defensin beta 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl86,870,592 - 6,877,936 (-)EnsemblGRCh38hg38GRCh38
GRCh3886,870,592 - 6,877,936 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3786,728,097 - 6,735,529 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3686,715,507 - 6,722,939 (-)NCBINCBI36hg18NCBI36
Build 3486,715,510 - 6,722,939NCBI
Celera86,705,523 - 6,712,945 (-)NCBI
Cytogenetic Map8p23.1NCBI
HuRef86,508,241 - 6,515,671 (-)NCBIHuRef
CHM1_186,817,351 - 6,824,768 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on DEFB1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 737379
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2020-06-18
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.