Q9H1M4 (DB127_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Beta-defensin 127

Alternative name(s):
Beta-defensin 27
Short name=DEFB-27
Defensin, beta 127

Gene names

Name:	DEFB127
Synonyms:	C20orf73, DEFB27
ORF Names:	UNQ1956/PRO6071

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	99 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Has antibacterial activity Potential.
Subcellular location	Secreted Potential.
Sequence similarities	Belongs to the beta-defensin family.

Ontologies

Keywords
Cellular component	Secreted
Coding sequence diversity	Polymorphism
Domain	Signal
Molecular function	Antibiotic Antimicrobial Defensin
PTM	Cleavage on pair of basic residues Disulfide bond
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological process	defense response to bacterium Traceable author statement. Source: UniProtKB innate immune response Traceable author statement. Source: UniProtKB
Cellular component	extracellular region Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 20	20	Ref.6
	Peptide	21 – 63	43	Beta-defensin 127		PRO_0000007002
	Propeptide	66 – 99	34	Potential		PRO_0000007003
Amino acid modifications
	Disulfide bond	24 ↔ 53		By similarity
	Disulfide bond	33 ↔ 47		By similarity
	Disulfide bond	37 ↔ 54		By similarity
Natural variations
	Natural variant	31	1	G → R. Ref.5 Corresponds to variant rs12624954 [ dbSNP | Ensembl ].		VAR_048864
	Natural variant	71	1	R → S. Ref.5 Corresponds to variant rs16995685 [ dbSNP | Ensembl ].		VAR_048865
Experimental info
	Sequence conflict	74 – 77	4	PATL → QHLH in AAM93920. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Q9H1M4 [UniParc]. Last modified March 1, 2001. Version 1. Checksum: C9CBDB27D17AF380	FASTA	99	11,343
	10 20 30 40 50 60 MGLFMIIAIL LFQKPTVTEQ LKKCWNNYVQ GHCRKICRVN EVPEALCENG RYCCLNIKEL 70 80 90 EACKKITKPP RPKPATLALT LQDYVTIIEN FPSLKTQST

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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: 12620395] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Testis.
[2]	"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M. Genome Res. 13:2265-2270(2003) [PubMed: 12975309] [Abstract] 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: 11780052] [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: 15489334] [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: 11854508] [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: 15340161] [Abstract] Cited for: PROTEIN SEQUENCE OF 21-35.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00030785.
RefSeq	NP_620713.1. NM_139074.2.
UniGene	Hs.99362.
3D structure databases
ProteinModelPortal	Q9H1M4.
ModBase	Search...
Protein-protein interaction databases
STRING	Q9H1M4.
Polymorphism databases
DMDM	23813958.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000382388; ENSP00000371825; ENSG00000088782.
GeneID	140850.
KEGG	hsa:140850.
UCSC	uc002wcy.1. human.
Organism-specific databases
CTD	140850.
GeneCards	GC20P000086.
H-InvDB	HIX0040533.
HGNC	HGNC:16206. DEFB127.
neXtProt	NX_Q9H1M4.
PharmGKB	PA27247.
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00530000064502.
HOGENOM	HBG100128.
HOVERGEN	HBG051310.
InParanoid	Q9H1M4.
OMA	CENGRYC.
OrthoDB	EOG4VHK84.
PhylomeDB	Q9H1M4.
Gene expression databases
ArrayExpress	Q9H1M4.
Bgee	Q9H1M4.
CleanEx	HS_DEFB127.
Genevestigator	Q9H1M4.
GermOnline	ENSG00000088782. Homo sapiens.
Family and domain databases
ProtoNet	Search...
Other
NextBio	84472.

Entry information

Entry name

DB127_HUMAN

Accession

Primary (citable) accession number: Q9H1M4
Secondary accession number(s): Q14DW7

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 10, 2002
Last sequence update:	March 1, 2001
Last modified:	December 14, 2011
This is version 82 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.