DEFB127
Beta-defensin 127
Also known as: bA530N10.2, C20orf73, DB127_HUMAN, DEF-27
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9H1M4
- Gene
- DEFB127
- Ensembl
- ENSG00000088782
- Chromosome
- 20
- Canonical length
- 99 aa
- Protein class
- Predicted secreted proteins
- Secretome location
- Secreted in male reproductive system
OverviewNCBI Gene
Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. [provided by RefSeq, Nov 2014]
Canonical amino-acid sequenceUniProt
99 residues, UniProt reviewed canonical sequence.
>Q9H1M4|DEFB127
1 MGLFMIIAIL LFQKPTVTEQ LKKCWNNYVQ GHCRKICRVN EVPEALCENG RYCCLNIKEL
61 EACKKITKPP RPKPATLALT LQDYVTIIEN FPSLKTQSTLocalizationUniProt · AlphaFold · HPA
Whether an antibody against DEFB127 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Secreted
- Secreted
- Yes
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.5
- Highest tissue expression
- 1,016 nTPM
Expression across tissuesHPA
Tissue
- epididymis: 1,016 nTPM
- seminal vesicle: 0.8 nTPM
- kidney: 0.1 nTPM
- adipose tissue: 0 nTPM
- adrenal gland: 0 nTPM
- amygdala: 0 nTPM
Single-cell type
- epididymal principal cells: 1,190 nCPM
- epididymal basal cells: 18 nCPM
- epididymal clear cells: 12 nCPM
- mast cells: 7.7 nCPM
- epididymal efferent duct ciliated cells: 4.2 nCPM
- epididymal efferent duct absorptive cells: 2.3 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- amygdala: 0 nTPM
- basal ganglia: 0 nTPM
- cerebellum: 0 nTPM
- cerebral cortex: 0 nTPM
- choroid plexus: 0 nTPM
- hippocampal formation: 0 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.69
- gnomAD pLI
- 0.4
- gnomAD missense Z
- -0.15
- DepMap mean gene effect
- 0.16
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 1% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- antimicrobial humoral immune response mediated by antimicrobial peptide
- defense response to bacterium
- defense response to Gram-negative bacterium
- innate immune response
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads DEFB127 as an antibody target. Whether an autoantibody or antibody against DEFB127 could matter depends on whether native DEFB127 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DEFB127 is annotated as secreted, so native DEFB127 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.
Annotation status
The present source text does not explicitly label DEFB127 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...