DEFA1

GENE INFORMATION

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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 78.38)

Entrez gene

1667

UniProt

P59665 (UniProt - Evidence at protein level)

neXtProt

NX_P59665

Antibodypedia

DEFA1 antibodies
 

PROTEIN VIEW

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DEFA1-001
 
DEFA1-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

DEFA1-001 ENSP00000372139
ENST00000382692
P59665
Show all »
Show » Show » 94 10.2 Yes 0
DEFA1-201 ENSP00000372126
ENST00000382679
P59665
Show all »
Show » Show » 94 10.2 Yes 0