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Protein

Beta-defensin 123

Gene

DEFB123

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

Has antibacterial activity.Curated

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Antibiotic, Antimicrobial, Defensin

Enzyme and pathway databases

ReactomeiR-HSA-1461957. Beta defensins.
R-HSA-1461973. Defensins.

Names & Taxonomyi

Protein namesi
Recommended name:
Beta-defensin 123
Alternative name(s):
Beta-defensin 23
Short name:
DEFB-23
Defensin, beta 123
Gene namesi
Name:DEFB123
Synonyms:DEFB23
ORF Names:UNQ1963/PRO4485
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

HGNCiHGNC:18103. DEFB123.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA38499.

Polymorphism and mutation databases

BioMutaiDEFB123.
DMDMi26392719.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2020Sequence analysisAdd
BLAST
Peptidei21 – 6747Beta-defensin 123PRO_0000006994Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi25 ↔ 52By similarity
Disulfide bondi32 ↔ 46By similarity
Disulfide bondi36 ↔ 53By similarity

Keywords - PTMi

Disulfide bond

Proteomic databases

PaxDbiQ8N688.
PRIDEiQ8N688.

PTM databases

iPTMnetiQ8N688.
PhosphoSiteiQ8N688.

Expressioni

Tissue specificityi

Abundant expression in the male reproductive tract only. Abundant expressed in testis and the caput region of epididymis, but low in the corpus region.1 Publication

Gene expression databases

BgeeiQ8N688.
CleanExiHS_DEFB123.
GenevisibleiQ8N688. HS.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000365486.

Structurei

3D structure databases

ProteinModelPortaliQ8N688.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the beta-defensin family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410JKH2. Eukaryota.
ENOG41115B5. LUCA.
GeneTreeiENSGT00530000064018.
HOGENOMiHOG000246960.
HOVERGENiHBG051303.
InParanoidiQ8N688.
OMAiVYVYCTN.
OrthoDBiEOG77T17N.
PhylomeDBiQ8N688.
TreeFamiTF336381.

Family and domain databases

InterProiIPR025933. Beta_defensin.
[Graphical view]
PfamiPF13841. Defensin_beta_2. 1 hit.
[Graphical view]
ProDomiPD866254. PD866254. 1 hit.
[Graphical view] [Entries sharing at least one domain]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8N688-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MKLLLLTLTV LLLLSQLTPG GTQRCWNLYG KCRYRCSKKE RVYVYCINNK
60
MCCVKPKYQP KERWWPF
Length:67
Mass (Da):8,105
Last modified:October 1, 2002 - v1
Checksum:i94EBFE98C9086D72
GO
Isoform 2 (identifier: Q8N688-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     20-28: GGTQRCWNL → DLSNPESTC
     29-67: Missing.

Show »
Length:28
Mass (Da):3,071
Checksum:i13E5A70C492CED40
GO

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei20 – 289GGTQRCWNL → DLSNPESTC in isoform 2. 1 PublicationVSP_057460
Alternative sequencei29 – 6739Missing in isoform 2. 1 PublicationVSP_057461Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY122475 mRNA. Translation: AAM93916.1.
AY501002 mRNA. Translation: AAS87296.1.
AF479701 mRNA. Translation: AAQ05840.1.
AY358859 mRNA. Translation: AAQ89218.1.
AL121751 Genomic DNA. Translation: CAI19150.1.
CH471077 Genomic DNA. Translation: EAW76445.1.
BC126365 mRNA. Translation: AAI26366.1.
BC126391 mRNA. Translation: AAI26392.1.
CCDSiCCDS13180.1. [Q8N688-1]
RefSeqiNP_697019.1. NM_153324.3. [Q8N688-1]
UniGeneiHs.122509.

Genome annotation databases

EnsembliENST00000376309; ENSP00000365486; ENSG00000180424. [Q8N688-1]
GeneIDi245936.
KEGGihsa:245936.
UCSCiuc002wvy.4. human. [Q8N688-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY122475 mRNA. Translation: AAM93916.1.
AY501002 mRNA. Translation: AAS87296.1.
AF479701 mRNA. Translation: AAQ05840.1.
AY358859 mRNA. Translation: AAQ89218.1.
AL121751 Genomic DNA. Translation: CAI19150.1.
CH471077 Genomic DNA. Translation: EAW76445.1.
BC126365 mRNA. Translation: AAI26366.1.
BC126391 mRNA. Translation: AAI26392.1.
CCDSiCCDS13180.1. [Q8N688-1]
RefSeqiNP_697019.1. NM_153324.3. [Q8N688-1]
UniGeneiHs.122509.

3D structure databases

ProteinModelPortaliQ8N688.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000365486.

PTM databases

iPTMnetiQ8N688.
PhosphoSiteiQ8N688.

Polymorphism and mutation databases

BioMutaiDEFB123.
DMDMi26392719.

Proteomic databases

PaxDbiQ8N688.
PRIDEiQ8N688.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000376309; ENSP00000365486; ENSG00000180424. [Q8N688-1]
GeneIDi245936.
KEGGihsa:245936.
UCSCiuc002wvy.4. human. [Q8N688-1]

Organism-specific databases

CTDi245936.
GeneCardsiDEFB123.
HGNCiHGNC:18103. DEFB123.
MIMi616076. gene.
neXtProtiNX_Q8N688.
PharmGKBiPA38499.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410JKH2. Eukaryota.
ENOG41115B5. LUCA.
GeneTreeiENSGT00530000064018.
HOGENOMiHOG000246960.
HOVERGENiHBG051303.
InParanoidiQ8N688.
OMAiVYVYCTN.
OrthoDBiEOG77T17N.
PhylomeDBiQ8N688.
TreeFamiTF336381.

Enzyme and pathway databases

ReactomeiR-HSA-1461957. Beta defensins.
R-HSA-1461973. Defensins.

Miscellaneous databases

GenomeRNAii245936.
PROiQ8N688.
SOURCEiSearch...

Gene expression databases

BgeeiQ8N688.
CleanExiHS_DEFB123.
GenevisibleiQ8N688. HS.

Family and domain databases

InterProiIPR025933. Beta_defensin.
[Graphical view]
PfamiPF13841. Defensin_beta_2. 1 hit.
[Graphical view]
ProDomiPD866254. PD866254. 1 hit.
[Graphical view] [Entries sharing at least one domain]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Discovery of five conserved beta-defensin gene clusters using a computational search strategy."
    Schutte B.C., Mitros J.P., Bartlett J.A., Walters J.D., Jia H.P., Welsh M.J., Casavant T.L., McCray P.B. Jr.
    Proc. Natl. Acad. Sci. U.S.A. 99:2129-2133(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), IDENTIFICATION.
    Tissue: Germ cell.
  2. "Identification, characterization, and evolution of a primate beta-defensin gene cluster."
    Radhakrishnan Y., Hamil K.G., Yenugu S., Young S.L., French F.S., Hall S.H.
    Genes Immun. 6:203-210(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY.
    Tissue: Testis.
  3. Hamil K.G., Hall S.H.
    Submitted (JAN-2002) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  5. "The DNA sequence and comparative analysis of human chromosome 20."
    Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E.
    , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
    Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).

Entry informationi

Entry nameiDB123_HUMAN
AccessioniPrimary (citable) accession number: Q8N688
Secondary accession number(s): Q5GRF8, Q5J5C7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 6, 2002
Last sequence update: October 1, 2002
Last modified: June 8, 2016
This is version 102 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.