Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Beta-defensin 127

Gene

DEFB127

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Has antibacterial activity.Curated

GO - Biological processi

  • defense response to bacterium Source: UniProtKB
  • innate immune response Source: UniProtKB
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 127
Alternative name(s):
Beta-defensin 27
Short name:
DEFB-27
Defensin, beta 127
Gene namesi
Name:DEFB127
Synonyms:C20orf73, DEFB27
ORF Names:UNQ1956/PRO6071
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

HGNCiHGNC:16206. DEFB127.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA27247.

Polymorphism and mutation databases

DMDMi23813958.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 20201 PublicationAdd
BLAST
Peptidei21 – 6343Beta-defensin 127PRO_0000007002Add
BLAST
Propeptidei66 – 9934Sequence analysisPRO_0000007003Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi24 ↔ 53By similarity
Disulfide bondi33 ↔ 47By similarity
Disulfide bondi37 ↔ 54By similarity

Keywords - PTMi

Cleavage on pair of basic residues, Disulfide bond

Proteomic databases

PaxDbiQ9H1M4.
PRIDEiQ9H1M4.

Expressioni

Gene expression databases

BgeeiQ9H1M4.
CleanExiHS_DEFB127.
GenevisibleiQ9H1M4. HS.

Organism-specific databases

HPAiHPA047476.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
TFECO149483EBI-10305240,EBI-3916574

Protein-protein interaction databases

BioGridi126734. 13 interactions.
IntActiQ9H1M4. 1 interaction.
STRINGi9606.ENSP00000371825.

Structurei

3D structure databases

ProteinModelPortaliQ9H1M4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the beta-defensin family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410JEA5. Eukaryota.
ENOG41114BX. LUCA.
GeneTreeiENSGT00530000064502.
HOGENOMiHOG000112159.
HOVERGENiHBG051310.
InParanoidiQ9H1M4.
OMAiCENGRYC.
OrthoDBiEOG7GFB7M.
PhylomeDBiQ9H1M4.

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]

Sequencei

Sequence statusi: Complete.

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

Q9H1M4-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MGLFMIIAIL LFQKPTVTEQ LKKCWNNYVQ GHCRKICRVN EVPEALCENG
60 70 80 90
RYCCLNIKEL EACKKITKPP RPKPATLALT LQDYVTIIEN FPSLKTQST
Length:99
Mass (Da):11,343
Last modified:March 1, 2001 - v1
Checksum:iC9CBDB27D17AF380
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti74 – 774PATL → QHLH in AAM93920 (PubMed:11854508).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti31 – 311G → R.1 Publication
Corresponds to variant rs12624954 [ dbSNP | Ensembl ].
VAR_048864
Natural varianti71 – 711R → S.1 Publication
Corresponds to variant rs16995685 [ dbSNP | Ensembl ].
VAR_048865

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF525929 mRNA. Translation: AAP47222.1.
AY358796 mRNA. Translation: AAQ89156.1.
AL360078 Genomic DNA. Translation: CAC17685.1.
BC069486 mRNA. Translation: AAH69486.1.
BC109395 mRNA. Translation: AAI09396.1.
AY122479 mRNA. Translation: AAM93920.1.
CCDSiCCDS12991.1.
RefSeqiNP_620713.1. NM_139074.3.
UniGeneiHs.99362.

Genome annotation databases

EnsembliENST00000382388; ENSP00000371825; ENSG00000088782.
GeneIDi140850.
KEGGihsa:140850.
UCSCiuc002wcy.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF525929 mRNA. Translation: AAP47222.1.
AY358796 mRNA. Translation: AAQ89156.1.
AL360078 Genomic DNA. Translation: CAC17685.1.
BC069486 mRNA. Translation: AAH69486.1.
BC109395 mRNA. Translation: AAI09396.1.
AY122479 mRNA. Translation: AAM93920.1.
CCDSiCCDS12991.1.
RefSeqiNP_620713.1. NM_139074.3.
UniGeneiHs.99362.

3D structure databases

ProteinModelPortaliQ9H1M4.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126734. 13 interactions.
IntActiQ9H1M4. 1 interaction.
STRINGi9606.ENSP00000371825.

Polymorphism and mutation databases

DMDMi23813958.

Proteomic databases

PaxDbiQ9H1M4.
PRIDEiQ9H1M4.

Protocols and materials databases

DNASUi140850.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000382388; ENSP00000371825; ENSG00000088782.
GeneIDi140850.
KEGGihsa:140850.
UCSCiuc002wcy.2. human.

Organism-specific databases

CTDi140850.
GeneCardsiDEFB127.
HGNCiHGNC:16206. DEFB127.
HPAiHPA047476.
neXtProtiNX_Q9H1M4.
PharmGKBiPA27247.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410JEA5. Eukaryota.
ENOG41114BX. LUCA.
GeneTreeiENSGT00530000064502.
HOGENOMiHOG000112159.
HOVERGENiHBG051310.
InParanoidiQ9H1M4.
OMAiCENGRYC.
OrthoDBiEOG7GFB7M.
PhylomeDBiQ9H1M4.

Enzyme and pathway databases

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

Miscellaneous databases

GeneWikiiDEFB127.
GenomeRNAii140850.
NextBioi84472.
PROiQ9H1M4.

Gene expression databases

BgeeiQ9H1M4.
CleanExiHS_DEFB127.
GenevisibleiQ9H1M4. 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. "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.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  3. "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].
  4. "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].
  5. "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 19-77, IDENTIFICATION, VARIANTS ARG-31 AND SER-71.
    Tissue: B-cell, Fetal lung and Testis.
  6. "Signal peptide prediction based on analysis of experimentally verified cleavage sites."
    Zhang Z., Henzel W.J.
    Protein Sci. 13:2819-2824(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 21-35.

Entry informationi

Entry nameiDB127_HUMAN
AccessioniPrimary (citable) accession number: Q9H1M4
Secondary accession number(s): Q14DW7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 10, 2002
Last sequence update: March 1, 2001
Last modified: May 11, 2016
This is version 111 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, Direct protein sequencing, 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.