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Protein

Beta-defensin 129

Gene

DEFB129

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 129
Alternative name(s):
Beta-defensin 29
Short name:
DEFB-29
Defensin, beta 129
Gene namesi
Name:DEFB129
Synonyms:C20orf87, DEFB29
ORF Names:UNQ5794/PRO19599
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

HGNCiHGNC:16218. DEFB129.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA27248.

Polymorphism and mutation databases

BioMutaiDEFB129.
DMDMi26392781.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 1919Sequence analysisAdd
BLAST
Chaini20 – 183164Beta-defensin 129PRO_0000007005Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi27 ↔ 53By similarity
Disulfide bondi34 ↔ 48By similarity
Disulfide bondi38 ↔ 54By similarity

Keywords - PTMi

Disulfide bond

Proteomic databases

PaxDbiQ9H1M3.
PRIDEiQ9H1M3.

Expressioni

Tissue specificityi

Expressed specifically in testis.1 Publication

Gene expression databases

BgeeiQ9H1M3.
CleanExiHS_DEFB129.
GenevisibleiQ9H1M3. HS.

Organism-specific databases

HPAiHPA019252.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000246105.

Structurei

3D structure databases

ProteinModelPortaliQ9H1M3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi160 – 1678Poly-Pro

Sequence similaritiesi

Belongs to the beta-defensin family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410J03G. Eukaryota.
ENOG41119SG. LUCA.
GeneTreeiENSGT00390000008616.
HOGENOMiHOG000112160.
HOVERGENiHBG051312.
InParanoidiQ9H1M3.
OMAiLMGFGRC.
OrthoDBiEOG7Z3F6Q.
PhylomeDBiQ9H1M3.

Family and domain databases

InterProiIPR020520. Beta-defensin_129.
IPR025933. Beta_defensin.
[Graphical view]
PfamiPF13841. Defensin_beta_2. 1 hit.
[Graphical view]
ProDomiPD307569. Beta-defensin_129. 1 hit.
[Graphical view] [Entries sharing at least one domain]

Sequencei

Sequence statusi: Complete.

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

Q9H1M3-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MKLLFPIFAS LMLQYQVNTE FIGLRRCLMG LGRCRDHCNV DEKEIQKCKM
60 70 80 90 100
KKCCVGPKVV KLIKNYLQYG TPNVLNEDVQ EMLKPAKNSS AVIQRKHILS
110 120 130 140 150
VLPQIKSTSF FANTNFVIIP NATPMNSATI STMTPGQITY TATSTKSNTK
160 170 180
ESRDSATASP PPAPPPPNIL PTPSLELEEA EEQ
Length:183
Mass (Da):20,299
Last modified:March 1, 2001 - v1
Checksum:iA531A68C39F6EFF9
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti149 – 1491T → S.
Corresponds to variant rs1053783 [ dbSNP | Ensembl ].
VAR_024327

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF529413 mRNA. Translation: AAQ09522.1.
AF525931 mRNA. Translation: AAP47224.1.
AY358186 mRNA. Translation: AAQ88553.1.
AL360078 Genomic DNA. Translation: CAC17686.1.
BC070359 mRNA. Translation: AAH70359.1.
AY122480 mRNA. Translation: AAM93921.1.
CCDSiCCDS12992.1.
RefSeqiNP_543021.1. NM_080831.3.
UniGeneiHs.112087.

Genome annotation databases

EnsembliENST00000246105; ENSP00000246105; ENSG00000125903.
GeneIDi140881.
KEGGihsa:140881.
UCSCiuc002wda.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF529413 mRNA. Translation: AAQ09522.1.
AF525931 mRNA. Translation: AAP47224.1.
AY358186 mRNA. Translation: AAQ88553.1.
AL360078 Genomic DNA. Translation: CAC17686.1.
BC070359 mRNA. Translation: AAH70359.1.
AY122480 mRNA. Translation: AAM93921.1.
CCDSiCCDS12992.1.
RefSeqiNP_543021.1. NM_080831.3.
UniGeneiHs.112087.

3D structure databases

ProteinModelPortaliQ9H1M3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000246105.

Polymorphism and mutation databases

BioMutaiDEFB129.
DMDMi26392781.

Proteomic databases

PaxDbiQ9H1M3.
PRIDEiQ9H1M3.

Protocols and materials databases

DNASUi140881.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000246105; ENSP00000246105; ENSG00000125903.
GeneIDi140881.
KEGGihsa:140881.
UCSCiuc002wda.3. human.

Organism-specific databases

CTDi140881.
GeneCardsiDEFB129.
HGNCiHGNC:16218. DEFB129.
HPAiHPA019252.
neXtProtiNX_Q9H1M3.
PharmGKBiPA27248.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410J03G. Eukaryota.
ENOG41119SG. LUCA.
GeneTreeiENSGT00390000008616.
HOGENOMiHOG000112160.
HOVERGENiHBG051312.
InParanoidiQ9H1M3.
OMAiLMGFGRC.
OrthoDBiEOG7Z3F6Q.
PhylomeDBiQ9H1M3.

Enzyme and pathway databases

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

Miscellaneous databases

GeneWikiiDEFB129.
GenomeRNAii140881.
PROiQ9H1M3.

Gene expression databases

BgeeiQ9H1M3.
CleanExiHS_DEFB129.
GenevisibleiQ9H1M3. HS.

Family and domain databases

InterProiIPR020520. Beta-defensin_129.
IPR025933. Beta_defensin.
[Graphical view]
PfamiPF13841. Defensin_beta_2. 1 hit.
[Graphical view]
ProDomiPD307569. Beta-defensin_129. 1 hit.
[Graphical view] [Entries sharing at least one domain]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "ORFeome-based search of airway epithelial cell-specific novel human beta-defensin genes."
    Kao C.Y., Chen Y., Zhao Y.H., Wu R.
    Am. J. Respir. Cell Mol. Biol. 29:71-80(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
  2. "Distribution of new human beta-defensin genes clustered on chromosome 20 in functionally different segments of epididymis."
    Rodriguez-Jimenez F.-J., Krause A., Schulz S., Forssmann W.-G., Conejo-Garcia J.-R., Schreeb R., Motzkus D.
    Genomics 81:175-183(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Testis.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  4. "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].
  5. "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].
    Tissue: Testis.
  6. "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] OF 1-155.
    Tissue: Testis.

Entry informationi

Entry nameiDB129_HUMAN
AccessioniPrimary (citable) accession number: Q9H1M3
Secondary accession number(s): Q8NES7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 6, 2002
Last sequence update: March 1, 2001
Last modified: June 8, 2016
This is version 103 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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. 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.