D104A_HUMAN
ID D104A_HUMAN Reviewed; 72 AA.
AC Q8WTQ1; Q496I2; Q496I3; Q496I4;
DT 27-MAY-2002, integrated into UniProtKB/Swiss-Prot.
DT 28-NOV-2006, sequence version 2.
DT 03-AUG-2022, entry version 144.
DE RecName: Full=Beta-defensin 104;
DE AltName: Full=Beta-defensin 4;
DE Short=BD-4;
DE Short=DEFB-4;
DE Short=hBD-4;
DE AltName: Full=Defensin, beta 104;
DE Flags: Precursor;
GN Name=DEFB104A; Synonyms=DEFB104, DEFB4;
GN and
GN Name=DEFB104B;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], FUNCTION, VARIANT VAL-10, AND
RP TISSUE SPECIFICITY.
RC TISSUE=Lung;
RX PubMed=11481241; DOI=10.1096/fj.00-0865fje;
RA Conejo-Garcia J.-R., Krause A., Schulz S., Rodriguez-Jimenez F.-J.,
RA Kluever E., Adermann K., Forssmann U., Frimpong-Boateng A., Bals R.,
RA Forssmann W.-G.;
RT "Human beta-defensin 4: a novel inducible peptide with a specific salt-
RT sensitive spectrum of antimicrobial activity.";
RL FASEB J. 15:1819-1821(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT VAL-10.
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- FUNCTION: Has antimicrobial activity. Synergistic effects with lysozyme
CC and DEFB103. {ECO:0000269|PubMed:11481241}.
CC -!- SUBCELLULAR LOCATION: Secreted.
CC -!- TISSUE SPECIFICITY: High expression in the testis. Gastric antrum
CC exhibited relatively high levels. A lower expression is observed in
CC uterus and neutrophils thyroid gland, lung, and kidney. No detectable
CC expression in other tissues tested. {ECO:0000269|PubMed:11481241}.
CC -!- INDUCTION: Antimicrobial activity is decreased when the sodium chloride
CC concentration is increased.
CC -!- SIMILARITY: Belongs to the beta-defensin family. {ECO:0000305}.
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DR EMBL; AJ314834; CAC85511.1; -; mRNA.
DR EMBL; AJ314835; CAC85520.1; -; Genomic_DNA.
DR EMBL; BC100848; AAI00849.1; -; mRNA.
DR EMBL; BC100849; AAI00850.1; -; mRNA.
DR EMBL; BC100850; AAI00851.1; -; mRNA.
DR EMBL; BC100851; AAI00852.1; -; mRNA.
DR CCDS; CCDS34812.1; -.
DR CCDS; CCDS34834.1; -.
DR RefSeq; NP_001035792.1; NM_001040702.1.
DR RefSeq; NP_525128.2; NM_080389.2.
DR RefSeq; XP_016885975.1; XM_017030486.1.
DR PDB; 5KI9; X-ray; 1.60 A; A=23-65.
DR PDBsum; 5KI9; -.
DR AlphaFoldDB; Q8WTQ1; -.
DR SMR; Q8WTQ1; -.
DR BioGRID; 126629; 11.
DR BioGRID; 139024; 1.
DR IntAct; Q8WTQ1; 6.
DR STRING; 9606.ENSP00000320813; -.
DR iPTMnet; Q8WTQ1; -.
DR PhosphoSitePlus; Q8WTQ1; -.
DR BioMuta; DEFB104A; -.
DR DMDM; 118572637; -.
DR MassIVE; Q8WTQ1; -.
DR PaxDb; Q8WTQ1; -.
DR PeptideAtlas; Q8WTQ1; -.
DR PRIDE; Q8WTQ1; -.
DR ProteomicsDB; 74581; -.
DR Antibodypedia; 52858; 36 antibodies from 12 providers.
DR Antibodypedia; 73481; 51 antibodies from 11 providers.
DR DNASU; 140596; -.
DR Ensembl; ENST00000314265.3; ENSP00000320813.2; ENSG00000176782.3.
DR Ensembl; ENST00000316169.2; ENSP00000322191.2; ENSG00000177023.2.
DR Ensembl; ENST00000616398.2; ENSP00000481976.1; ENSG00000277006.2.
DR Ensembl; ENST00000644603.2; ENSP00000494390.1; ENSG00000285034.2.
DR Ensembl; ENST00000646913.2; ENSP00000494886.1; ENSG00000285034.2.
DR GeneID; 140596; -.
DR GeneID; 503618; -.
DR KEGG; hsa:140596; -.
DR KEGG; hsa:503618; -.
DR MANE-Select; ENST00000314265.3; ENSP00000320813.2; NM_080389.3; NP_525128.2.
DR MANE-Select; ENST00000316169.2; ENSP00000322191.2; NM_001040702.1; NP_001035792.1.
DR UCSC; uc003wrn.3; human.
DR CTD; 140596; -.
DR CTD; 503618; -.
DR DisGeNET; 140596; -.
DR DisGeNET; 503618; -.
DR GeneCards; DEFB104A; -.
DR GeneCards; DEFB104B; -.
DR HGNC; HGNC:18115; DEFB104A.
DR HGNC; HGNC:26165; DEFB104B.
DR HPA; ENSG00000176782; Tissue enriched (epididymis).
DR HPA; ENSG00000177023; Not detected.
DR neXtProt; NX_Q8WTQ1; -.
DR OpenTargets; ENSG00000177023; -.
DR PharmGKB; PA142671990; -.
DR VEuPathDB; HostDB:ENSG00000176782; -.
DR VEuPathDB; HostDB:ENSG00000177023; -.
DR eggNOG; ENOG502TDUP; Eukaryota.
DR GeneTree; ENSGT00940000164302; -.
DR HOGENOM; CLU_202010_0_0_1; -.
DR InParanoid; Q8WTQ1; -.
DR OMA; TYACCLK; -.
DR OrthoDB; 1612464at2759; -.
DR PhylomeDB; Q8WTQ1; -.
DR PathwayCommons; Q8WTQ1; -.
DR Reactome; R-HSA-1461957; Beta defensins.
DR Reactome; R-HSA-1461973; Defensins.
DR SignaLink; Q8WTQ1; -.
DR BioGRID-ORCS; 140596; 7 hits in 858 CRISPR screens.
DR BioGRID-ORCS; 503618; 15 hits in 616 CRISPR screens.
DR GeneWiki; DEFB104A; -.
DR Pharos; Q8WTQ1; Tbio.
DR PRO; PR:Q8WTQ1; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; Q8WTQ1; protein.
DR Bgee; ENSG00000176782; Expressed in lower esophagus mucosa and 30 other tissues.
DR Genevisible; Q8WTQ1; HS.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR GO; GO:0042056; F:chemoattractant activity; IDA:UniProtKB.
DR GO; GO:1904628; P:cellular response to phorbol 13-acetate 12-myristate; IDA:UniProtKB.
DR GO; GO:0050829; P:defense response to Gram-negative bacterium; IDA:UniProtKB.
DR GO; GO:0050830; P:defense response to Gram-positive bacterium; IDA:UniProtKB.
DR GO; GO:0045087; P:innate immune response; IDA:UniProtKB.
DR GO; GO:0002548; P:monocyte chemotaxis; IDA:UniProtKB.
DR GO; GO:0050918; P:positive chemotaxis; IDA:UniProtKB.
DR InterPro; IPR025933; Beta_defensin.
DR Pfam; PF13841; Defensin_beta_2; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Antibiotic; Antimicrobial; Defensin; Disulfide bond;
KW Reference proteome; Secreted; Signal.
FT SIGNAL 1..22
FT /evidence="ECO:0000255"
FT PEPTIDE 23..72
FT /note="Beta-defensin 104"
FT /id="PRO_0000006973"
FT DISULFID 30..57
FT /evidence="ECO:0000250"
FT DISULFID 37..51
FT /evidence="ECO:0000250"
FT DISULFID 41..58
FT /evidence="ECO:0000250"
FT VARIANT 10
FT /note="I -> V (in dbSNP:rs2680507)"
FT /evidence="ECO:0000269|PubMed:11481241,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_024767"
FT CONFLICT 38
FT /note="R -> Q (in Ref. 2; AAI00851)"
FT /evidence="ECO:0000305"
FT TURN 31..34
FT /evidence="ECO:0007829|PDB:5KI9"
FT STRAND 35..38
FT /evidence="ECO:0007829|PDB:5KI9"
FT STRAND 45..50
FT /evidence="ECO:0007829|PDB:5KI9"
FT STRAND 56..60
FT /evidence="ECO:0007829|PDB:5KI9"
SQ SEQUENCE 72 AA; 8526 MW; E95B3465F2FF8DFE CRC64;
MQRLVLLLAI SLLLYQDLPV RSEFELDRIC GYGTARCRKK CRSQEYRIGR CPNTYACCLR
KWDESLLNRT KP
