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Aliases for CELA1 Gene

Aliases for CELA1 Gene

  • Chymotrypsin Like Elastase Family Member 1 2 3 5
  • Chymotrypsin-Like Elastase Family, Member 1 2 3
  • Elastase 1, Pancreatic 2 3
  • Pancreatic Elastase 1 3 4
  • EC 3.4.21.36 4 63
  • Elastase-1 3 4
  • ELA1 3 4
  • EC 3.4.21 63

External Ids for CELA1 Gene

Previous HGNC Symbols for CELA1 Gene

  • ELA1

Previous GeneCards Identifiers for CELA1 Gene

  • GC12M050012
  • GC12M051723
  • GC12M048755

Summaries for CELA1 Gene

Entrez Gene Summary for CELA1 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, pancreatic elastase 1 is not expressed in the pancreas. To date, elastase 1 expression has only been detected in skin keratinocytes. Clinical literature that describes human elastase 1 activity in the pancreas or fecal material is actually referring to chymotrypsin-like elastase family, member 3B. [provided by RefSeq, May 2009]

GeneCards Summary for CELA1 Gene

CELA1 (Chymotrypsin Like Elastase Family Member 1) is a Protein Coding gene. Diseases associated with CELA1 include steatorrhea and pancreatic steatorrhea. GO annotations related to this gene include serine-type endopeptidase activity. An important paralog of this gene is CELA2B.

UniProtKB/Swiss-Prot for CELA1 Gene

  • Acts upon elastin.

Gene Wiki entry for CELA1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CELA1 Gene

Genomics for CELA1 Gene

Regulatory Elements for CELA1 Gene

Genomic Location for CELA1 Gene

Chromosome:
12
Start:
51,328,443 bp from pter
End:
51,346,679 bp from pter
Size:
18,237 bases
Orientation:
Minus strand

Genomic View for CELA1 Gene

Genes around CELA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CELA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CELA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CELA1 Gene

Proteins for CELA1 Gene

  • Protein details for CELA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UNI1-CELA1_HUMAN
    Recommended name:
    Chymotrypsin-like elastase family member 1
    Protein Accession:
    Q9UNI1
    Secondary Accessions:
    • Q5MLF0
    • Q6DJT0
    • Q6ISM6

    Protein attributes for CELA1 Gene

    Size:
    258 amino acids
    Molecular mass:
    27798 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAV88109.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for CELA1 Gene

Proteomics data for CELA1 Gene at MOPED

Post-translational modifications for CELA1 Gene

  • Glycosylation at Asn 79 and Asn 233

Other Protein References for CELA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains & Families for CELA1 Gene

Suggested Antigen Peptide Sequences for CELA1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UNI1

UniProtKB/Swiss-Prot:

CELA1_HUMAN :
  • Contains 1 peptidase S1 domain.
  • Belongs to the peptidase S1 family. Elastase subfamily.
Domain:
  • Contains 1 peptidase S1 domain.
Family:
  • Belongs to the peptidase S1 family. Elastase subfamily.
genes like me logo Genes that share domains with CELA1: view

No data available for Gene Families for CELA1 Gene

Function for CELA1 Gene

Molecular function for CELA1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Hydrolysis of proteins, including elastin. Preferential cleavage: Ala- -Xaa.
UniProtKB/Swiss-Prot Function:
Acts upon elastin.

Enzyme Numbers (IUBMB) for CELA1 Gene

Gene Ontology (GO) - Molecular Function for CELA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IEA,IBA --
genes like me logo Genes that share ontologies with CELA1: view
genes like me logo Genes that share phenotypes with CELA1: view

Animal Model Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CELA1 Gene

Localization for CELA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CELA1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CELA1 Gene COMPARTMENTS Subcellular localization image for CELA1 gene
Compartment Confidence
extracellular 5
cytosol 3
nucleus 2

No data available for Gene Ontology (GO) - Cellular Components for CELA1 Gene

Pathways & Interactions for CELA1 Gene

SuperPathways for CELA1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CELA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0006508 proteolysis IEA --
GO:0009791 post-embryonic development IEA --
GO:0016055 Wnt signaling pathway IEA --
GO:0031017 exocrine pancreas development IEA --
genes like me logo Genes that share ontologies with CELA1: view

No data available for Pathways by source and SIGNOR curated interactions for CELA1 Gene

Drugs & Compounds for CELA1 Gene

(19) Drugs for CELA1 Gene - From: DrugBank, ApexBio, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
N,N-Dimethylformamide Experimental Pharma Target 0
(2-BROMOETHYL)(2-'FORMYL-4'-AMINOPHENYL) ACETATE Experimental Pharma Target 0
(2R)-3-{[(BENZYLAMINO)CARBONYL]AMINO}-2-HYDROXYPROPANOIC ACID Experimental Pharma Target 0
(2S,3S)-3-FORMYL-2-({[(4-METHYLPHENYL)SULFONYL]AMINO}METHYL)PENTANOIC ACID Experimental Pharma Target 0
(2S,3S)-3-FORMYL-2-({[(4-NITROPHENYL)SULFONYL]AMINO}METHYL)PENTANOIC ACID Experimental Pharma Target 0
genes like me logo Genes that share compounds with CELA1: view

Transcripts for CELA1 Gene

mRNA/cDNA for CELA1 Gene

(1) REFSEQ mRNAs :
(5) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for CELA1 Gene

No ASD Table

Relevant External Links for CELA1 Gene

GeneLoc Exon Structure for
CELA1
ECgene alternative splicing isoforms for
CELA1

Expression for CELA1 Gene

mRNA expression in normal human tissues for CELA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CELA1 Gene

This gene is overexpressed in Adrenal Gland (x22.5), Whole Blood (x7.5), and Spleen (x4.7).

SOURCE GeneReport for Unigene cluster for CELA1 Gene Hs.348395

mRNA Expression by UniProt/SwissProt for CELA1 Gene

Q9UNI1-CELA1_HUMAN
Tissue specificity: Basal layers of epidermis (at protein level). Not expressed in the pancreas.
genes like me logo Genes that share expression patterns with CELA1: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for CELA1 Gene

Orthologs for CELA1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CELA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CELA1 35
  • 99.48 (n)
  • 98.83 (a)
CELA1 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CELA1 36
  • 85 (a)
OneToOne
CELA1 35
  • 89.36 (n)
  • 87.94 (a)
dog
(Canis familiaris)
Mammalia CELA1 35
  • 90.18 (n)
  • 89.15 (a)
CELA1 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cela1 36
  • 82 (a)
OneToOne
Cela1 16
Cela1 35
  • 85.6 (n)
  • 84.82 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 38 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Cela1 35
  • 87.68 (n)
  • 89.88 (a)
chicken
(Gallus gallus)
Aves CELA1 36
  • 67 (a)
OneToOne
CELA1 35
  • 70.33 (n)
  • 69.8 (a)
lizard
(Anolis carolinensis)
Reptilia CELA1 36
  • 71 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.2865 35
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100135144 35
  • 68.65 (n)
  • 71.69 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1383 35
zebrafish
(Danio rerio)
Actinopterygii CELA1 (1 of 7) 36
  • 60 (a)
OneToMany
CELA1 (2 of 7) 36
  • 47 (a)
OneToMany
CELA1 (3 of 7) 36
  • 56 (a)
OneToMany
CELA1 (4 of 7) 36
  • 58 (a)
OneToMany
CELA1 (5 of 7) 36
  • 50 (a)
OneToMany
CELA1 (6 of 7) 36
  • 46 (a)
OneToMany
CELA1 (7 of 7) 36
  • 51 (a)
OneToMany
wufb65e06 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 25 (a)
OneToMany
Species with no ortholog for CELA1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CELA1 Gene

ENSEMBL:
Gene Tree for CELA1 (if available)
TreeFam:
Gene Tree for CELA1 (if available)

Paralogs for CELA1 Gene

Paralogs for CELA1 Gene

Pseudogenes.org Pseudogenes for CELA1 Gene

genes like me logo Genes that share paralogs with CELA1: view

Variants for CELA1 Gene

Sequence variations from dbSNP and Humsavar for CELA1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs17860287 - 51,345,864(-) ACCCA(C/G)GACCT reference, missense
rs17860299 - 51,343,823(-) GTTCC(C/T)GGTAT reference, missense
rs17860300 - 51,343,778(-) GGGTG(A/G)TGACA reference, missense
rs17860364 - 51,329,715(-) CACCC(A/G)GGTCT reference, missense
VAR_036295 A breast cancer sample

Structural Variations from Database of Genomic Variants (DGV) for CELA1 Gene

Variant ID Type Subtype PubMed ID
nsv469377 CNV Loss 19166990
nsv832408 CNV Gain 17160897

Variation tolerance for CELA1 Gene

Residual Variation Intolerance Score: 87.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 26.10; 99.75% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CELA1 Gene

HapMap Linkage Disequilibrium report
CELA1
Human Gene Mutation Database (HGMD)
CELA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CELA1 Gene

Disorders for CELA1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for CELA1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
steatorrhea
  • fatty stool
pancreatic steatorrhea
  • pancreatic steatorrhea [dup]
pancreas disease
  • pancreatic diseases
exocrine pancreatic insufficiency
- elite association - COSMIC cancer census association via MalaCards
Search CELA1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CELA1

Genetic Association Database (GAD)
CELA1
Human Genome Epidemiology (HuGE) Navigator
CELA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CELA1
genes like me logo Genes that share disorders with CELA1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CELA1 Gene

Publications for CELA1 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 48 67
  2. Drugs, their targets and the nature and number of drug targets. (PMID: 17016423) Imming P. … Meyer A. (Nat Rev Drug Discov 2006) 25 26
  3. How many drug targets are there? (PMID: 17139284) Overington J.P. … Hopkins A.L. (Nat Rev Drug Discov 2006) 25 26
  4. The Protein Data Bank. (PMID: 10592235) Berman H.M. … Bourne P.E. (Nucleic Acids Res. 2000) 25 26
  5. Extract of the mycelium of T. matsutake inhibits elastase activity and TPA-induced MMP-1 expression in human fibroblasts. (PMID: 25319362) Kim S.Y. … Kim B.J. (Int. J. Mol. Med. 2014) 3

Products for CELA1 Gene

Sources for CELA1 Gene

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