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UniProtKB/Swiss-Prot entry Q9UNI1


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name ELA1_HUMAN
Primary accession number Q9UNI1
Secondary accession numbers Q5MLF0 Q6DJT0 Q6ISM6
Integrated into Swiss-Prot on October 18, 2001
Sequence was last modified on March 29, 2005 (Sequence version 2)
Annotations were last modified on    June 16, 2009 (Entry version 73)
Name and origin of the protein
Protein name Elastase-1 [Precursor]
Synonym EC 3.4.21.36
Gene name
Name: ELA1
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 2: Evidence at transcript level;
References
[1]
NUCLEOTIDE SEQUENCE [MRNA], AND TISSUE SPECIFICITY.
TISSUE=Keratinocyte;
DOI=10.1046/j.1523-1747.2000.00825.x; PubMed=10620133 [NCBI, ExPASy, EBI, Israel, Japan]
Talas U., Dunlop J., Khalaf S., Leigh I.M., Kelsell D.P.;
"Human elastase 1: evidence for expression in the skin and the identification of a frequent frameshift polymorphism.";
J. Invest. Dermatol. 114:165-170(2000).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
NIEHS SNPs program;
Submitted (SEP-2004) to the EMBL/GenBank/DDBJ databases.
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Brain;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[4]
VARIANT [LARGE SCALE ANALYSIS] ALA-76.
DOI=10.1126/science.1133427; PubMed=16959974 [NCBI, ExPASy, EBI, Israel, Japan]
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V., Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.;
"The consensus coding sequences of human breast and colorectal cancers.";
Science 314:268-274(2006).
Comments
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
AF120493; AAD28441.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AY740424; AAV88109.1; ALT_SEQ; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC069454; AAH69454.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC075091; AAH75091.2; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
IPI IPI00019729; -.
RefSeq NP_001962.3; -.
UniGene Hs.348395
3D structure databases
HSSP P00772; 1QNJ. [HSSP ENTRY / SWISS-3DIMAGE / PDB]
SMR Q9UNI1; 19-258.
ModBase Q9UNI1.
Protein family/group databases
MEROPS S01.153; -.
Enzyme and pathway databases
BRENDA 3.4.21.36; 247.
Organism-specific databases
GeneCards GC12M050011; -.
HGNC HGNC:3308; ELA1.
GenAtlas ELA1.
MIM 130120; gene. [NCBI / EBI]
PharmGKB PA27734; -.
Gene expression databases
ArrayExpress Q9UNI1; -.
CleanEx HS_ELA1; -.
GermOnline ENSG00000139610; Homo sapiens.
Ontologies
GO
GO:0005576; Cellular component: extracellular region (inferred from electronic annotation from UniProtKB-SubCell).
GO:0005509; Molecular function: calcium ion binding (inferred from electronic annotation from UniProtKB-KW).
GO:0004252; Molecular function: serine-type endopeptidase activity (inferred from electronic annotation from InterPro).
GO:0006508; Biological process: proteolysis (inferred from electronic annotation from InterPro).
QuickGo view.
Family and domain databases
InterPro IPR018114; Peptidase_S1/S6_AS.
IPR001254; Peptidase_S1_S6.
IPR001314; Peptidase_S1A.
Graphical view of domain structure.
Pfam PF00089; Trypsin; 1.
Pfam graphical view of domain structure.
PRINTS PR00722; CHYMOTRYPSIN.
SMART SM00020; Tryp_SPc; 1.
SMART graphical view of domain structure.
PROSITE PS50240; TRYPSIN_DOM; 1.
PS00134; TRYPSIN_HIS; 1.
PS00135; TRYPSIN_SER; 1.
PROSITE graphical view of domain structure (profiles).
Proteomic databases
PRIDE Q9UNI1; -.
Genome annotation databases
Ensembl ENSG00000139610; Homo sapiens. [Contig view]
GeneID 1990; -.
KEGG hsa:1990; -.
Phylogenomic databases
HOGENOM Q9UNI1; -.
HOVERGEN Q9UNI1; -.
OMA Q9UNI1; GSWHHTC.
Other
NextBio 8047; -.
PMAP-CutDB Q9UNI1; -.
SOURCE ELA1; Homo sapiens.
ProtoNet Q9UNI1.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
Calcium; Disulfide bond; Glycoprotein; Hydrolase; Metal-binding; Polymorphism; Protease; Secreted; Serine protease; Signal; Zymogen.
Features
SEVIEWER logo Feature table viewer FT aligner logo Feature aligner
KeyFrom   To Length Description FTId
SIGNAL   1     8  8     By similarity. 
PROPEP   9    18  10     Activation peptide. PRO_0000027677
CHAIN   19   258  240     Elastase-1. PRO_0000027678
DOMAIN   19   256  238     Peptidase S1. 
ACT_SITE   63    63        Charge relay system (By similarity). 
ACT_SITE   111   111        Charge relay system (By similarity). 
ACT_SITE   206   206        Charge relay system (By similarity). 
METAL   77    77        Calcium (By similarity). 
METAL   82    82        Calcium; via carbonyl oxygen (By similarity). 
METAL   87    87        Calcium (By similarity). 
CARBOHYD   79    79        N-linked (GlcNAc...) (Potential). 
CARBOHYD   233   233        N-linked (GlcNAc...) (Potential). 
DISULFID   48    64        By similarity. 
DISULFID   145   212        By similarity. 
DISULFID   176   192        By similarity. 
DISULFID   202   232        By similarity. 
VARIANT   10    10  1     Q -> H (in dbSNP:rs17860287 [NCBI]). VAR_033645 
VARIANT   44    44  1     R -> W (in dbSNP:rs17860299 [NCBI]). VAR_033646 [3D]
VARIANT   59    59  1     M -> V (in dbSNP:rs17860300 [NCBI]). VAR_033647 [3D]
VARIANT   76    76  1     G -> A (in a breast cancer sample; somatic mutation). VAR_036295 [3D]
VARIANT   243   243  1     Q -> R (in dbSNP:rs17860364 [NCBI]). VAR_033648 [3D]
CONFLICT   220   220        V -> L (in Ref. 1; AAD28441). 
Sequence information
Length: 258 AA [This is the length of the unprocessed precursor] Molecular weight: 27798 Da [This is the MW of the unprocessed precursor] CRC64: 684EDE8F1F011F8D [This is a checksum on the sequence]
        10         20         30         40         50         60 
MLVLYGHSTQ DLPETNARVV GGTEAGRNSW PSQISLQYRS GGSRYHTCGG TLIRQNWVMT 

        70         80         90        100        110        120 
AAHCVDYQKT FRVVAGDHNL SQNDGTEQYV SVQKIVVHPY WNSDNVAAGY DIALLRLAQS 

       130        140        150        160        170        180 
VTLNSYVQLG VLPQEGAILA NNSPCYITGW GKTKTNGQLA QTLQQAYLPS VDYAICSSSS 

       190        200        210        220        230        240 
YWGSTVKNTM VCAGGDGVRS GCQGDSGGPL HCLVNGKYSV HGVTSFVSSR GCNVSRKPTV 

       250 
FTQVSAYISW INNVIASN 

Q9UNI1 in FASTA format

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BLAST logo BLAST submission on ExPASy/SIB
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