Seroatlas · Human Serome Atlas

DEFB1

Beta-defensin 1

Also known as: BD1, DEFB-1, DEFB1_HUMAN, DEFB101, HBD-1, HBD1, MGC51822

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: P60022
Gene: DEFB1
Ensembl: ENSG00000164825
Chromosome: 8
Canonical length: 68 aa
Protein class: Predicted secreted proteins, Transporters
Secretome location: Secreted in other tissues
Quaternary structure: Homodimer

OverviewNCBI 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 epithelial surfaces to microbial colonization. This gene maps in close proximity to defensin family member, defensin, alpha 1 and has been implicated in the pathogenesis of cystic fibrosis. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

68 residues, UniProt reviewed canonical sequence.

>P60022|DEFB1
     1  MRTSYLLLFT LCLLLSEMAS GGNFLTGLGH RSDHYNCVSS GGQCLYSACP IFTKIQGTCY
    61  RGKAKCCK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DEFB1 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): 0.47
Highest tissue expression: 2,948 nTPM

Expression across tissuesHPA

Tissue

salivary gland: 2,948 nTPM
kidney: 2,702 nTPM
pancreas: 1,076 nTPM
liver: 381 nTPM
skin: 322 nTPM
cervix: 287 nTPM

Single-cell type

salivary ionocytes: 2,730 nCPM
salivary basal cells: 1,425 nCPM
epididymal clear cells: 1,284 nCPM
cholangiocytes: 1,195 nCPM
salivary duct cells: 1,190 nCPM
salivary acinar cells: 1,022 nCPM

Immune cell

classical monocyte: 0.3 nTPM
intermediate monocyte: 0.3 nTPM
basophil: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

thalamus: 6.6 nTPM
midbrain: 4.7 nTPM
cerebellum: 3.4 nTPM
amygdala: 2.9 nTPM
hypothalamus: 1.8 nTPM
choroid plexus: 0.8 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: 0.41
gnomAD missense Z: -2.99
DepMap mean gene effect: 0.09
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads DEFB1 as an antibody target. Whether an autoantibody or antibody against DEFB1 could matter depends on whether native DEFB1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DEFB1 is annotated as secreted, so native DEFB1 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 DEFB1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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