Expression of DEFA1 in cancer - Summary

GENERAL INFORMATION
Gene name	DEFA1
Gene description	Defensin, alpha 1
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 category

TCGA (cancer tissue):	Not detected
HPA (cell line):	Cell line enriched (NB-4)
HPA (normal tissue):	Tissue enriched (bone marrow)

Protein evidence

Evidence at protein level

Protein expression
normal tissue

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

ANTIBODY IHC RELIABILITY
Data reliability description	Antibody staining consistent with RNA expression data. Caution, targets protein from more than one gene.
Reliability score	Supported based on 2 antibodies. HPA052517 , CAB032548
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PROGNOSTIC SUMMARY
Gene product is not prognostic.
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RNA EXPRESSION OVERVIEW
TCGA dataset RNA cancer category: Not detected

PROTEIN EXPRESSION

STAINING SUMMARY

HPA052517	CAB032548

GENE INFORMATION
Gene name	DEFA1 (HGNC Symbol)
Synonyms	DEF1, DEFA2, HNP-1, MRS
Description	Defensin, alpha 1 (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. [provided by RefSeq, Oct 2014]
Chromosome	8
Cytoband	p23.1
Chromosome location (bp)	6977649 - 6980080
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000206047 (version 83.38)
Entrez gene	1667
UniProt	P59665 (UniProt - Evidence at protein level)
neXtProt	NX_P59665
Antibodypedia	DEFA1 antibodies

PROTEIN BROWSER

DEFA1-001	DEFA1-201

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
DEFA1-001 ENSP00000372139 ENST00000382692	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
DEFA1-201 ENSP00000372126 ENST00000382679	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