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CELA3A Gene

protein-coding   GIFtS: 53
GCID: GC01P022328

Chymotrypsin-Like Elastase Family, Member 3A

(Previous names: elastase 3A, pancreatic (protease E), elastase 3A, pancreatic)
(Previous symbol: ELA3A)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Chymotrypsin-Like Elastase Family, Member 3A1 2     Chymotrypsin-Like Elastase Family Member 3A2
ELA3A1 2 3     Elastase 12
Protease E1 2 3     elastase-3A2
Elastase 3A, Pancreatic1 2     EC 3.4.21.703
Elastase IIIA2 3     Elastase-3A3
ELA32 3     EC 3.4.218
Elastase 3A, Pancreatic (Protease E)1     

External Ids:    HGNC: 159441   Entrez Gene: 101362   Ensembl: ENSG000001427897   UniProtKB: P090933   

Export aliases for CELA3A gene to outside databases

Previous GC identifers: GC01P022201 GC01P020572


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CELA3A Gene:
Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have
six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Unlike other
elastases, elastase 3A has little elastolytic activity. Like most of the human elastases, elastase 3A is secreted
from the pancreas as a zymogen and, like other serine proteases such as trypsin, chymotrypsin and kallikrein, it
has a digestive function in the intestine. Elastase 3A preferentially cleaves proteins after alanine residues.
Elastase 3A may also function in the intestinal transport and metabolism of cholesterol. Both elastase 3A and
elastase 3B have been referred to as protease E and as elastase 1. (provided by RefSeq, Jul 2008)

GeneCards Summary for CELA3A Gene:
CELA3A (chymotrypsin-like elastase family, member 3A) is a protein-coding gene. Diseases associated with CELA3A include pancreatitis, and retinitis. GO annotations related to this gene include serine-type endopeptidase activity. An important paralog of this gene is CTRL.

UniProtKB/Swiss-Prot: CEL3A_HUMAN, P09093
Function: Efficient protease with alanine specificity but only little elastolytic activity

Gene Wiki entry for CELA3A Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the CELA3A gene promoter:
         HOXA9B   HOXA9   HEN1   AP-4   Meis-1b   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCELA3A promoter sequence
   Search Chromatin IP Primers for CELA3A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CELA3A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36.12   Ensembl cytogenetic band:  1p36.12   HGNC cytogenetic band: 1p36.12

CELA3A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CELA3A gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P022328:  view genomic region     (about GC identifiers)

Start:
22,328,149 bp from pter      End:
22,339,035 bp from pter
Size:
10,887 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CEL3A_HUMAN, P09093 (See protein sequence)
Recommended Name: Chymotrypsin-like elastase family member 3A precursor  
Size: 270 amino acids; 29489 Da
Secondary accessions: B1AQ53 Q9BRW4

Explore the universe of human proteins at neXtProt for CELA3A: NX_P09093

Explore proteomics data for CELA3A at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn114
  • Selected DME Specific Peptides for CELA3A (P09093) (see all 7)
     CYITGWG  GDSGGPL  DIALIKL  WPWQVSL 


    See CELA3A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005738.4  
    ENSEMBL proteins: 
     ENSP00000290122   ENSP00000363795   ENSP00000383130  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR001314 Peptidase_S1A
     IPR001254 Peptidase_S1
     IPR018114 Peptidase_S1_AS
     IPR009003 Trypsin-like_Pept_dom

    Graphical View of Domain Structure for InterPro Entry P09093

    ProtoNet protein and cluster: P09093

    2 Blocks protein domains:
    IPB001254 Serine protease
    IPB001314 Chymotrypsin serine protease family (S1) signature


    UniProtKB/Swiss-Prot: CEL3A_HUMAN, P09093
    Similarity: Belongs to the peptidase S1 family. Elastase subfamily
    Similarity: Contains 1 peptidase S1 domain


    CELA3A for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CEL3A_HUMAN, P09093
    Function: Efficient protease with alanine specificity but only little elastolytic activity
    Catalytic activity: Preferential cleavage: Ala- -Xaa. Does not hydrolyze elastin

         Enzyme Numbers (IUBMB): EC 3.4.21.701 EC 3.4.212

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004252serine-type endopeptidase activity IEA--
         
    CELA3A for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for CELA3A:
     Decreased viability of wild-ty  Increased G1 DNA content 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CELA3A
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular3

    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CELA3A About    
    See pathways by source

    SuperPathContained pathways About
    1Protein digestion and absorption
    Protein digestion and absorption
    2Pancreatic secretion
    Pancreatic secretion

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2 Kegg Pathways  (Kegg details for CELA3A):
        Pancreatic secretion
    Protein digestion and absorption


    CELA3A for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including CELA3A: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for CELA3A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CELA3A (P090933 ENSP000002901224) via UniProtKB, MINT, STRING, and/or I2D (see all 47)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CREB3O438893I2D: score=1 
    TFPIENSP000002331564STRING: ENSP00000233156
    ADAMTSL4-AS1ENSP000003580314STRING: ENSP00000358031
    ATPIF1ENSP000003352034STRING: ENSP00000335203
    C1orf105ENSP000003567004STRING: ENSP00000356700
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis TAS2826474
    GO:0007586digestion TAS2826474
    GO:0008203cholesterol metabolic process TAS2826474

    CELA3A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CELA3A (CEL3A)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CELA3A gene: 
    NM_005747.4  

    Unigene Cluster for CELA3A:

    Chymotrypsin-like elastase family, member 3A
    Hs.181289  [show with all ESTs]
    Unigene Representative Sequence: AK308514
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000290122(uc001bfl.3) ENST00000374663(uc009vqf.3) ENST00000400271

    miRNA
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      QuantiTect SYBR Green Assays in human, mouse, rat CELA3A
      QuantiFast Probe-based Assays in human, mouse, rat CELA3A

    Additional mRNA sequence: 

    AK225620.1 AK308510.1 AK308514.1 AK308518.1 BC005918.1 BC007028.1 BC008383.1 BC015103.1 
    D00306.1 

    18 DOTS entries:

    DT.100796350  DT.454427  DT.91757699  DT.100796353  DT.121444662  DT.121444687  DT.121444701  DT.95165838 
    DT.100737587  DT.100796351  DT.100796356  DT.121444661  DT.121444682  DT.91644562  DT.91757700  DT.95165837 
    DT.95165839  DT.95165849 

    Selected AceView cDNA sequences (see all 497):

    BM352531 AA367172 BM021454 BM512399 BM967253 BM128949 AA366614 CA942316 
    BM893889 BM126887 AA844854 BM129835 BM129606 BM893739 W40423 BM967226 
    BE045790 AA835183 BU782537 BQ270153 BQ581403 BI766875 BQ477793 CA776415 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for CELA3A    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7
    SP1:                                          
    SP2:              -     -                     


    ECgene alternative splicing isoforms for CELA3A

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CELA3A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGTGTGCTG
    CELA3A Expression
    About this image


    CELA3A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Pancreas (Endocrine System)
             Duct Cells Pancreatic Ducts
     
     Epithelial Cells
             Duct Cells Pancreatic Ducts
     
     Eye (Sensory Organs)
             Retina
     
     Ovary (Reproductive System)
    CELA3A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CELA3A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.181289
        Pathway & Disease-focused RT2 Profiler PCR Array including CELA3A: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CELA3A gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gm130111 , 5 predicted gene 130111, 5 79.06(n)1
    76.21(a)1
      4 (69.88 cM)5
    2427111  NM_001126318.11  NP_001119790.11 
     1374015545 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    64(a)
    1 → many
    21(6521864-6524784)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    68(a)
    67(a)
    many ↔ many
    many ↔ many
    GL343980.1(88963-101607)
    GL343980.1(73990-80259)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ela3b1 elastase 3B, pancreatic 67.45(n)
    64.57(a)
      496902  NM_001011421.1  NP_001011421.1 
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch73-44m9.56
    si:ch73-44m9.5
    65(a)
    many ↔ many
    22(7776743-7777326) ENSDARG00000092890


    ENSEMBL Gene Tree for CELA3A (if available)
    TreeFam Gene Tree for CELA3A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CELA3A gene
    CTRL2  CTRC2  CELA2A2  CELA3B2  CTRB12  CELA12  CELA2B2  CTRB22  
    Selected SIMAP similar genes for CELA3A using alignment to 4 protein entries:     CEL3A_HUMAN (see all proteins) (see all similar genes):
    ELA3A    CELA3B    CELA1    CELA2A    ELA2A    CELA2B
    ELA2B    CTRC    KLK15    PRSS47    DKFZp779M0222    GZMM
    PRSS8    TMPRSS3    CTRL    PRSS21    TPSB2    CTRB1

    CELA3A for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CELA3A (see all 546)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1874926201,2
    --22326225(+) CTAACC/TCTATC 1 -- us2k10--------
    rs1383000411,2
    --22326248(+) CCTCCC/TGGGCC 1 -- us2k10--------
    rs1928663181,2
    --22326274(+) CCTGGC/TGTAGG 1 -- us2k10--------
    rs1151458481,2
    C,F--22326324(+) TGTCCG/AGGCAC 1 -- us2k11Minor allele frequency- A:0.05NA 120
    rs1443194991,2
    --22326327(+) CCGGGC/TACATA 1 -- us2k10--------
    rs1181527001,2
    F--22326328(+) CGGGCA/GCATAG 1 -- us2k11Minor allele frequency- G:0.06EA 120
    rs1140919881,2
    F--22326401(+) CTTCCA/C/TTTGTG 1 -- us2k11NA 120
    rs1164224371,2
    C,F--22326416(+) CACACG/ATTCCA 1 -- us2k12Minor allele frequency- A:0.20NA EA 240
    rs1160523191,2
    C,F--22326422(+) TTCCAC/TGAACC 1 -- us2k12Minor allele frequency- T:0.18WA NA 238
    rs1487492621,2
    C--22326455(+) TGTGAC/TTGGAG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CELA3A (22328149 - 22339035 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CELA3A (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv21e201CNV Deletion23290073
    esv2422105CNV Deletion20811451
    esv2672264CNV Deletion23128226
    nsv9657CNV Loss18304495
    esv7729CNV Loss19470904
    dgv27n67CNV Loss20364138
    nsv470706CNV Loss18288195
    nsv469549CNV Loss16826518
    nsv834413CNV Loss17160897
    esv24116CNV Loss19812545

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CELA3A
    DNA2.0 Custom Variant and Variant Library Synthesis for CELA3A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    2 diseases for CELA3A:    
    About MalaCards
    pancreatitis    retinitis


    CELA3A for disorders           About GeneDecksing


    Export disorders for CELA3A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CELA3A gene integrated from 10 sources:
    (articles sorted by number of sources associating them with CELA3A)
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    1. Molecular cloning of complementary DNA encoding one of the human pancreatic protease E isozymes. (PubMed id 2460440)1, 2, 3 Shirasu Y.... Ogawa M. (J. Biochem. 1988)
    2. Identification of a novel class of elastase isozyme, human pancreatic elastase III, by cDNA and genomic gene cloning. (PubMed id 2826474)1, 2, 3 Tani T.... Takiguchi Y. (J. Biol. Chem. 1988)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (Nature 2006)
    5. Pancreatic elastase IIIA and its variants are expressed in pancreatic carcinoma cells. (PubMed id 12373299)1 Shimada S....Ogawa M. (Int. J. Mol. Med. 2002)
    6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    7. Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. (PubMed id 8125298)1 Maruyama K. and Sugano S. (Gene 1994)
    8. Evaluation of the extracellular proteins in full-scale activated sludges. (PubMed id 18653206)9 Park C....Esen A. (Water Res. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10136 HGNC: 15944 AceView: ELA3AandELA3B Ensembl:ENSG00000142789 euGenes: HUgn10136
    ECgene: CELA3A Kegg: 10136 H-InvDB: CELA3A

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CELA3A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CELA3A gene:
    Search GeneIP for patents involving CELA3A

    GeneCards and IP:
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