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DEFA1B

GENERAL INFORMATION

Gene name

 DEFA1B

Gene description

 Defensin, alpha 1B

Protein class

 Cancer-related genes
Plasma proteins
Predicted secreted proteins
Transporters

Predicted localization

 Secreted

Number of transcripts

 2
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enriched (bone marrow)
GTEx:Group enriched (lung, spleen)
FANTOM5:Tissue enhanced (heart muscle)

Protein evidence

 Evidence at protein level

Protein expression

 Selective cytoplasmic expression in immune cells in hematopoietic and lymphoid tissue.

DATA RELIABILITY

Data reliability
description

 Antibody staining consistent with RNA expression data. Caution, targets protein from more than one gene.

Reliability score

 Supported based on 1 antibody.
HPA052517
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Bone marrow

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (bone marrow)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (lung, spleen)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (heart muscle)

GENE INFORMATION

Gene name

 DEFA1B

Synonyms

Description

 Defensin, alpha 1B (HGNC Symbol)

Entrez gene summary

 Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. The protein encoded by this gene, defensin, alpha 1, is found in the microbicidal granules of neutrophils and likely plays a role in phagocyte-mediated host defense. Several alpha defensin genes are clustered on chromosome 8. This gene differs from defensin, alpha 3 by only one amino acid. This gene and the gene encoding defensin, alpha 3 are both subject to copy number variation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014]

Chromosome

 8

Cytoband

 p23.1

Chromosome location (bp)

 6996766 - 7018289

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000240247 (version 83.38)

Entrez gene

 728358

UniProt

 P59665 (UniProt - Evidence at protein level)

neXtProt

 NX_P59665

Antibodypedia

 DEFA1B antibodies

PROTEIN BROWSER
DEFA1B-001
DEFA1B-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
DEFA1B-001
ENSP00000372136
ENST00000382689
P59665 [Direct mapping]
Neutrophil defensin 1 HP 1-56 Neutrophil defensin 2
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Transporters
   Transporter channels and pores
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
Show all
GO:0002227 [innate immune response in mucosa]
GO:0005576 [extracellular region]
GO:0005615 [extracellular space]
GO:0005796 [Golgi lumen]
GO:0006935 [chemotaxis]
GO:0006952 [defense response]
GO:0006955 [immune response]
GO:0019731 [antibacterial humoral response]
GO:0030520 [intracellular estrogen receptor signaling pathway]
GO:0031012 [extracellular matrix]
GO:0031640 [killing of cells of other organism]
GO:0035578 [azurophil granule lumen]
GO:0045087 [innate immune response]
GO:0050830 [defense response to Gram-positive bacterium]
GO:0050832 [defense response to fungus]
GO:0051607 [defense response to virus]
GO:0070062 [extracellular exosome]
Show all
 94 aa
10.2 kDa 		Yes 0
DEFA1B-201
ENSP00000443526
ENST00000535841
P59665 [Direct mapping]
Neutrophil defensin 1 HP 1-56 Neutrophil defensin 2
Show all
Transporters
   Transporter channels and pores
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
Show all
GO:0002227 [innate immune response in mucosa]
GO:0005576 [extracellular region]
GO:0005615 [extracellular space]
GO:0005796 [Golgi lumen]
GO:0006935 [chemotaxis]
GO:0006952 [defense response]
GO:0006955 [immune response]
GO:0019731 [antibacterial humoral response]
GO:0030520 [intracellular estrogen receptor signaling pathway]
GO:0031012 [extracellular matrix]
GO:0031640 [killing of cells of other organism]
GO:0035578 [azurophil granule lumen]
GO:0045087 [innate immune response]
GO:0050830 [defense response to Gram-positive bacterium]
GO:0050832 [defense response to fungus]
GO:0051607 [defense response to virus]
GO:0070062 [extracellular exosome]
Show all
 94 aa
10.2 kDa 		Yes 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.