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Reviewed, UniProtKB/Swiss-Prot Q9UNI1 (CELA1_HUMAN)

Last modified January 19, 2010. Version 81. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Chymotrypsin-like elastase family member 1
    EC=3.4.21.36
Alternative name(s):
    Elastase-1
Gene names
Name: CELA1
Synonyms: ELA1
OrganismHomo sapiens (Human) [Complete proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length258 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at transcript level.

General annotation (Comments)

Function

Acts upon elastin.

Catalytic activity

Hydrolysis of proteins, including elastin. Preferential cleavage: Ala-|-Xaa.

Cofactor

Binds 1 calcium ion per subunit By similarity.

Subcellular location

Secreted.

Tissue specificity

Skin; not expressed in pancreas. Ref.1

Sequence similarities

Belongs to the peptidase S1 family. Elastase subfamily.

Contains 1 peptidase S1 domain.

Ontologies

Keywords
   Cellular componentSecreted
   Coding sequence diversityPolymorphism
   DomainSignal
   LigandCalcium
Metal-binding
   Molecular functionHydrolase
Protease
Serine protease
   PTMDisulfide bond
Glycoprotein
Zymogen
   Technical termComplete proteome
Gene Ontology (GO)
   Biological processproteolysis

Inferred from electronic annotation. Source: InterPro

   Cellular componentextracellular region

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular functioncalcium ion binding

Inferred from electronic annotation. Source: UniProtKB-KW

serine-type endopeptidase activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 88 By similarity
Propeptide9 – 1810Activation peptide
PRO_0000027677
Chain19 – 258240Chymotrypsin-like elastase family member 1
PRO_0000027678

Regions

Domain19 – 256238Peptidase S1

Sites

Active site631Charge relay system By similarity
Active site1111Charge relay system By similarity
Active site2061Charge relay system By similarity
Metal binding771Calcium By similarity
Metal binding821Calcium; via carbonyl oxygen By similarity
Metal binding871Calcium By similarity

Amino acid modifications

Glycosylation791N-linked (GlcNAc...) Potential
Glycosylation2331N-linked (GlcNAc...) Potential
Disulfide bond48 ↔ 64 By similarity
Disulfide bond145 ↔ 212 By similarity
Disulfide bond176 ↔ 192 By similarity
Disulfide bond202 ↔ 232 By similarity

Natural variations

Natural variant101Q → H: dbSNP rs17860287.
VAR_033645
Natural variant441R → W: dbSNP rs17860299.
VAR_033646
Natural variant591M → V: dbSNP rs17860300.
VAR_033647
Natural variant761G → A in a breast cancer sample; somatic mutation. Ref.4
VAR_036295
Natural variant2431Q → R: dbSNP rs17860364.
VAR_033648

Experimental info

Sequence conflict2201V → L in AAD28441. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q9UNI1-1 [UniParc].

Last modified March 29, 2005. Version 2.
Checksum: 684EDE8F1F011F8D

FASTA25827,798
        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 

« Hide

References

« Hide 'large scale' references
[1]"Human elastase 1: evidence for expression in the skin and the identification of a frequent frameshift polymorphism."
Talas U., Dunlop J., Khalaf S., Leigh I.M., Kelsell D.P.
J. Invest. Dermatol. 114:165-170(2000) [PubMed: 10620133] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
Tissue: Keratinocyte.
[2]NIEHS SNPs program
Submitted (SEP-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]"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].
Tissue: Brain.
[4]"The consensus coding sequences of human breast and colorectal cancers."
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. expand/collapse author list , 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.
Science 314:268-274(2006) [PubMed: 16959974] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] ALA-76.

Web resources

NIEHS-SNPs
Wikipedia

Elastase entry

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF120493 mRNA. Translation: AAD28441.1.
AY740424 Genomic DNA. Translation: AAV88109.1. Sequence problems.
BC069454 mRNA. Translation: AAH69454.1.
BC075091 mRNA. Translation: AAH75091.2.
IPIIPI00019729.
RefSeqNP_001962.3.
UniGeneHs.348395

3D structure databases

SMRQ9UNI1. Positions 19-258.
ModBaseSearch...

Protein-protein interaction databases

STRINGQ9UNI1.

Protein family/group databases

MEROPSS01.153.

Proteomic databases

PRIDEQ9UNI1.

Genome annotation databases

EnsemblENST00000293636; ENSP00000293636; ENSG00000139610; Homo sapiens. [Genome view]
GeneID1990.
KEGGhsa:1990.
UCSCuc001ryi.1. human.

Organism-specific databases

CTD1990.
GeneCardsGC12M050011.
HGNCHGNC:3308. CELA1.
MIM130120. gene.
PharmGKBPA27734.
GenAtlasSearch...

Phylogenomic databases

HOVERGENQ9UNI1.
InParanoidQ9UNI1.
OMAYLPSVSY.
OrthoDBEOG979HSN.
PhylomeDBQ9UNI1.

Enzyme and pathway databases

BRENDA3.4.21.36. 247.

Gene expression databases

ArrayExpressQ9UNI1.
CleanExHS_ELA1.
GenevestigatorQ9UNI1.
GermOnlineENSG00000139610. Homo sapiens.

Family and domain databases

InterProIPR018114. Peptidase_S1/S6_AS.
IPR001254. Peptidase_S1_S6.
IPR001314. Peptidase_S1A.
IPR009003. Ser/Cys_Pept_Trypsin-like.
[Graphical view]
PfamPF00089. Trypsin. 1 hit.
[Graphical view]
PRINTSPR00722. CHYMOTRYPSIN.
SMARTSM00020. Tryp_SPc. 1 hit.
[Graphical view]
PROSITEPS50240. TRYPSIN_DOM. 1 hit.
PS00134. TRYPSIN_HIS. 1 hit.
PS00135. TRYPSIN_SER. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio8047.
PMAP-CutDBQ9UNI1.
SOURCESearch...

Entry information

Entry nameCELA1_HUMAN
AccessionPrimary (citable) accession number: Q9UNI1
Secondary accession number(s): Q5MLF0, Q6DJT0, Q6ISM6
Entry history
Integrated into UniProtKB/Swiss-Prot: October 18, 2001
Last sequence update: March 29, 2005
Last modified: January 19, 2010
This is version 81 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)
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.

Relevant documents

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Peptidase families

Classification of peptidase families and list of entries

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents