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Q9UNI1

- CELA1_HUMAN

UniProt

Q9UNI1 - CELA1_HUMAN

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Protein
Chymotrypsin-like elastase family member 1
Gene
CELA1, ELA1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Acts upon elastin.

Catalytic activityi

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

Cofactori

Binds 1 calcium ion per subunit By similarity.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei63 – 631Charge relay system By similarity
Metal bindingi77 – 771Calcium By similarity
Metal bindingi82 – 821Calcium; via carbonyl oxygen By similarity
Metal bindingi87 – 871Calcium By similarity
Active sitei111 – 1111Charge relay system By similarity
Active sitei206 – 2061Charge relay system By similarity

GO - Molecular functioni

  1. metal ion binding Source: UniProtKB-KW
  2. serine-type endopeptidase activity Source: InterPro

GO - Biological processi

  1. Wnt signaling pathway Source: Ensembl
  2. exocrine pancreas development Source: Ensembl
  3. inflammatory response Source: Ensembl
  4. multicellular organism growth Source: Ensembl
  5. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
  6. pancreas morphogenesis Source: Ensembl
  7. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
  8. post-embryonic development Source: Ensembl
  9. regulation of cell differentiation Source: Ensembl
  10. regulation of cell proliferation Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase, Protease, Serine protease

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

BRENDAi3.4.21.36. 2681.

Protein family/group databases

MEROPSiS01.153.

Names & Taxonomyi

Protein namesi
Recommended name:
Chymotrypsin-like elastase family member 1 (EC:3.4.21.36)
Alternative name(s):
Elastase-1
Pancreatic elastase 1
Gene namesi
Name:CELA1
Synonyms:ELA1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:3308. CELA1.

Subcellular locationi

GO - Cellular componenti

  1. extracellular region Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA27734.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 88 By similarity
Propeptidei9 – 1810Activation peptide
PRO_0000027677
Chaini19 – 258240Chymotrypsin-like elastase family member 1
PRO_0000027678Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi48 ↔ 64 By similarity
Glycosylationi79 – 791N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi145 ↔ 212 By similarity
Disulfide bondi176 ↔ 192 By similarity
Disulfide bondi202 ↔ 232 By similarity
Glycosylationi233 – 2331N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Disulfide bond, Glycoprotein, Zymogen

Proteomic databases

PaxDbiQ9UNI1.
PRIDEiQ9UNI1.

Miscellaneous databases

PMAP-CutDBQ9UNI1.

Expressioni

Tissue specificityi

Basal layers of epidermis (at protein level). Not expressed in the pancreas.1 Publication

Gene expression databases

ArrayExpressiQ9UNI1.
BgeeiQ9UNI1.
CleanExiHS_ELA1.
GenevestigatoriQ9UNI1.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000293636.

Structurei

3D structure databases

ProteinModelPortaliQ9UNI1.
SMRiQ9UNI1. Positions 19-258.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini19 – 256238Peptidase S1
Add
BLAST

Sequence similaritiesi

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiCOG5640.
HOGENOMiHOG000251820.
InParanoidiQ9UNI1.
KOiK01326.
OMAiKSGSSWY.
OrthoDBiEOG7RRF7Z.
PhylomeDBiQ9UNI1.
TreeFamiTF330455.

Family and domain databases

InterProiIPR001254. Peptidase_S1.
IPR018114. Peptidase_S1_AS.
IPR001314. Peptidase_S1A.
IPR009003. Trypsin-like_Pept_dom.
[Graphical view]
PfamiPF00089. Trypsin. 1 hit.
[Graphical view]
PRINTSiPR00722. CHYMOTRYPSIN.
SMARTiSM00020. Tryp_SPc. 1 hit.
[Graphical view]
SUPFAMiSSF50494. SSF50494. 1 hit.
PROSITEiPS50240. TRYPSIN_DOM. 1 hit.
PS00134. TRYPSIN_HIS. 1 hit.
PS00135. TRYPSIN_SER. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

Q9UNI1-1 [UniParc]FASTAAdd to Basket

« Hide

MLVLYGHSTQ DLPETNARVV GGTEAGRNSW PSQISLQYRS GGSRYHTCGG    50
TLIRQNWVMT AAHCVDYQKT FRVVAGDHNL SQNDGTEQYV SVQKIVVHPY 100
WNSDNVAAGY DIALLRLAQS VTLNSYVQLG VLPQEGAILA NNSPCYITGW 150
GKTKTNGQLA QTLQQAYLPS VDYAICSSSS YWGSTVKNTM VCAGGDGVRS 200
GCQGDSGGPL HCLVNGKYSV HGVTSFVSSR GCNVSRKPTV FTQVSAYISW 250
INNVIASN 258
Length:258
Mass (Da):27,798
Last modified:March 29, 2005 - v2
Checksum:i684EDE8F1F011F8D
GO

Sequence cautioni

The sequence AAV88109.1 differs from that shown. Reason: Erroneous gene model prediction.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti10 – 101Q → H.
Corresponds to variant rs17860287 [ dbSNP | Ensembl ].
VAR_033645
Natural varianti44 – 441R → W.
Corresponds to variant rs17860299 [ dbSNP | Ensembl ].
VAR_033646
Natural varianti59 – 591M → V.
Corresponds to variant rs17860300 [ dbSNP | Ensembl ].
VAR_033647
Natural varianti76 – 761G → A in a breast cancer sample; somatic mutation. 1 Publication
VAR_036295
Natural varianti243 – 2431Q → R.
Corresponds to variant rs17860364 [ dbSNP | Ensembl ].
VAR_033648

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti220 – 2201V → L in AAD28441. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF120493 mRNA. Translation: AAD28441.1.
AC046135 Genomic DNA. No translation available.
BC069454 mRNA. Translation: AAH69454.1.
BC075091 mRNA. Translation: AAH75091.2.
AY740424 Genomic DNA. Translation: AAV88109.1. Sequence problems.
CCDSiCCDS8812.1.
RefSeqiNP_001962.3. NM_001971.5.
UniGeneiHs.348395.

Genome annotation databases

EnsembliENST00000293636; ENSP00000293636; ENSG00000139610.
GeneIDi1990.
KEGGihsa:1990.
UCSCiuc001ryi.1. human.

Polymorphism databases

DMDMi62298049.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

NIEHS-SNPs
Wikipedia

Elastase entry

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF120493 mRNA. Translation: AAD28441.1 .
AC046135 Genomic DNA. No translation available.
BC069454 mRNA. Translation: AAH69454.1 .
BC075091 mRNA. Translation: AAH75091.2 .
AY740424 Genomic DNA. Translation: AAV88109.1 . Sequence problems.
CCDSi CCDS8812.1.
RefSeqi NP_001962.3. NM_001971.5.
UniGenei Hs.348395.

3D structure databases

ProteinModelPortali Q9UNI1.
SMRi Q9UNI1. Positions 19-258.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000293636.

Chemistry

BindingDBi Q9UNI1.
ChEMBLi CHEMBL3000.

Protein family/group databases

MEROPSi S01.153.

Polymorphism databases

DMDMi 62298049.

Proteomic databases

PaxDbi Q9UNI1.
PRIDEi Q9UNI1.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000293636 ; ENSP00000293636 ; ENSG00000139610 .
GeneIDi 1990.
KEGGi hsa:1990.
UCSCi uc001ryi.1. human.

Organism-specific databases

CTDi 1990.
GeneCardsi GC12M051723.
HGNCi HGNC:3308. CELA1.
MIMi 130120. gene.
neXtProti NX_Q9UNI1.
PharmGKBi PA27734.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5640.
HOGENOMi HOG000251820.
InParanoidi Q9UNI1.
KOi K01326.
OMAi KSGSSWY.
OrthoDBi EOG7RRF7Z.
PhylomeDBi Q9UNI1.
TreeFami TF330455.

Enzyme and pathway databases

BRENDAi 3.4.21.36. 2681.

Miscellaneous databases

GeneWikii CELA1.
GenomeRNAii 1990.
NextBioi 8047.
PMAP-CutDB Q9UNI1.
PROi Q9UNI1.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9UNI1.
Bgeei Q9UNI1.
CleanExi HS_ELA1.
Genevestigatori Q9UNI1.

Family and domain databases

InterProi IPR001254. Peptidase_S1.
IPR018114. Peptidase_S1_AS.
IPR001314. Peptidase_S1A.
IPR009003. Trypsin-like_Pept_dom.
[Graphical view ]
Pfami PF00089. Trypsin. 1 hit.
[Graphical view ]
PRINTSi PR00722. CHYMOTRYPSIN.
SMARTi SM00020. Tryp_SPc. 1 hit.
[Graphical view ]
SUPFAMi SSF50494. SSF50494. 1 hit.
PROSITEi PS50240. TRYPSIN_DOM. 1 hit.
PS00134. TRYPSIN_HIS. 1 hit.
PS00135. TRYPSIN_SER. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
    Tissue: Keratinocyte.
  2. "The finished DNA sequence of human chromosome 12."
    Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
    , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
    Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE 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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  4. NIEHS SNPs program
    Submitted (SEP-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-194.
  5. Cited for: VARIANT [LARGE SCALE ANALYSIS] ALA-76.

Entry informationi

Entry nameiCELA1_HUMAN
AccessioniPrimary (citable) accession number: Q9UNI1
Secondary accession number(s): Q5MLF0, Q6DJT0, Q6ISM6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 18, 2001
Last sequence update: March 29, 2005
Last modified: July 9, 2014
This is version 117 of the entry and version 2 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

Caution

In spite of its original name "Pancreatic elastase 1", CELA1 is not detected in the pancreas. Elastase activity described in the pancreas may be in fact due to CELA2A (1 Publication).

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Peptidase families
    Classification of peptidase families and list of entries
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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