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DCD dermcidin [ Homo sapiens (human) ]

Gene ID: 117159, updated on 6-Jan-2019

Summary

Official Symbol
DCDprovided by HGNC
Official Full Name
dermcidinprovided by HGNC
Primary source
HGNC:HGNC:14669
See related
Ensembl:ENSG00000161634 MIM:606634
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PIF; AIDD; DSEP; HCAP; DCD-1
Summary
This antimicrobial gene encodes a secreted protein that is subsequently processed into mature peptides of distinct biological activities. The C-terminal peptide is constitutively expressed in sweat and has antibacterial and antifungal activities. The N-terminal peptide, also known as diffusible survival evasion peptide, promotes neural cell survival under conditions of severe oxidative stress. A glycosylated form of the N-terminal peptide may be associated with cachexia (muscle wasting) in cancer patients. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See DCD in Genome Data Viewer
Location:
12q13.2
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (54644591..54648493, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (55038375..55042277, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene glycosylation dependent cell adhesion molecule 1 (pseudogene) Neighboring gene lacritin Neighboring gene voltage dependent anion channel 1 pseudogene 5 Neighboring gene mucin like 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.
NHGRI GWA Catalog

Pathways from BioSystems

  • Antimicrobial peptides, organism-specific biosystem (from REACTOME)
    Antimicrobial peptides, organism-specific biosystemAntimicrobial peptides (AMPs) are small molecular weight proteins with broad spectrum of antimicrobial activity against bacteria, viruses, and fungi (Zasloff M 2002; Radek K & Gallo R 2007). The majo...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC71930

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
peptidase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
antimicrobial humoral response TAS
Traceable Author Statement
more info
 
defense response to bacterium IEA
Inferred from Electronic Annotation
more info
 
defense response to fungus IEA
Inferred from Electronic Annotation
more info
 
killing of cells of other organism IEA
Inferred from Electronic Annotation
more info
 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
extracellular region IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular region IDA
Inferred from Direct Assay
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
dermcidin
Names
diffusible survival/evasion peptide
preproteolysin
proteolysis inducing factor
survival promoting peptide

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001300854.1NP_001287783.1  dermcidin isoform 2 preproprotein

    See identical proteins and their annotated locations for NP_001287783.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the longer transcript and encodes the longer isoform (2).
    Source sequence(s)
    AC079310, EF503689
    Consensus CDS
    CCDS73478.1
    UniProtKB/Swiss-Prot
    P81605
    Related
    ENSP00000406773.2, ENST00000456047.2
    Conserved Domains (1) summary
    pfam15291
    Location:19118
    Dermcidin; Dermcidin, antibiotic peptide
  2. NM_053283.3NP_444513.1  dermcidin isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_444513.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) lacks an alternate exon in the 3' coding region, resulting in a frameshift compared to variant 2. The encoded isoform (1) has a distinct C-terminus , and is shorter, compared to isoform 2.
    Source sequence(s)
    AC079310, EF503687
    Consensus CDS
    CCDS8884.1
    UniProtKB/Swiss-Prot
    P81605
    Related
    ENSP00000293371.6, ENST00000293371.10
    Conserved Domains (1) summary
    pfam15291
    Location:1997
    Dermcidin; Dermcidin, antibiotic peptide

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    54644591..54648493 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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