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 l... See more...

Aliases for CELA1 Gene

Aliases for CELA1 Gene

  • Chymotrypsin Like Elastase 1 2 3 5
  • Chymotrypsin-Like Elastase Family Member 1 3 4
  • Elastase 1, Pancreatic 2 3
  • Pancreatic Elastase 1 3 4
  • EC 3.4.21.36 4 54
  • Elastase-1 3 4
  • ELA1 3 4
  • Chymotrypsin-Like Elastase Family, Member 1 2
  • Chymotrypsin Like Elastase Family Member 1 3
  • EC 3.4.21 54

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 1) is a Protein Coding gene. Diseases associated with CELA1 include Punctate Palmoplantar Keratoderma and Steatorrhea. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity. An important paralog of this gene is CELA2A.

UniProtKB/Swiss-Prot Summary for CELA1 Gene

Gene Wiki entry for CELA1 Gene

Additional gene information for CELA1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CELA1 Gene

Genomics for CELA1 Gene

GeneHancer (GH) Regulatory Elements for CELA1 Gene

Promoters and enhancers for CELA1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J051346 Promoter/Enhancer 0.7 EPDnew Ensembl 757.7 +0.4 378 1.8 ZNF316 NFE2 EMSY CELA1 piR-50437-122 POU6F1
GH12J051348 Enhancer 0.4 ENCODE 750.6 -1.9 -1878 1 ZNF316 NFE2 ZC3H11A CELA1 ATF1 HNRNPA3P10 BIN2 SLC11A2 RNU6-1273P CSRNP2 SLC4A8
GH12J051317 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 22.9 +23.6 23592 10.3 SP1 ZBTB40 SMARCE1 POLR2A ZNF217 HCFC1 MYC CC2D1A ETV6 ELF1 BIN2 LOC105369767 lnc-CELA1-1 CELA1 HNRNPA3P10 POU6F1 DAZAP2 SMAGP SLC11A2 PHBP19
GH12J051387 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11 -45.2 -45233 9.1 SMARCE1 POLR2A CTBP1 ZNF217 ZNF362 MYC CC2D1A ETV6 MAX DACH1 GALNT6 SLC4A8 lnc-CELA1-2 HNRNPA3P10 TFCP2 BIN2 SLC11A2 CELA1 DAZAP2 CSRNP2
GH12J051368 Enhancer 1.6 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 16.2 -24.0 -24007 4.4 ZBTB40 SP1 FOXA1 SMARCE1 POLR2A ZNF362 RUNX1 CC2D1A ETV6 RELA GALNT6 CELA1 BIN2 SLC4A8 DAZAP2 CSRNP2 FIGNL2 SLC11A2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CELA1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CELA1 gene promoter:
  • AML1a
  • CBF(2)
  • CBF-A
  • CBF-B
  • CBF-C
  • E47
  • Pax-6
  • PPAR-gamma1
  • PPAR-gamma2
  • Tal-1

Genomic Locations for CELA1 Gene

Genomic Locations for CELA1 Gene
chr12:51,328,443-51,346,679
(GRCh38/hg38)
Size:
18,237 bases
Orientation:
Minus strand
chr12:51,722,227-51,740,463
(GRCh37/hg19)
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

Selected DME Specific Peptides for CELA1 Gene

Q9UNI1:
  • CYITGWG
  • GDHNLSQNDGTEQY
  • GDSGGPL
  • VQKIVVHPYWN
  • DIALLRLAQ
  • VMTAAHC
  • YVQLGVLP
  • GCNVSRKPTVFT
  • LVLYGHST
  • VHGVTSFVS
  • CQGDSGGP

Post-translational modifications for CELA1 Gene

  • Glycosylation at Asn79 and Asn233
  • Modification sites at PhosphoSitePlus

Other Protein References for CELA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for CELA1 Gene

Gene Families for CELA1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for CELA1 Gene

GenScript: Design optimal peptide antigens:
  • Elastase-1 (CELA1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UNI1

UniProtKB/Swiss-Prot:

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

Function for CELA1 Gene

Molecular function for CELA1 Gene

UniProtKB/Swiss-Prot Function:
Acts upon elastin.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Hydrolysis of proteins, including elastin. Preferential cleavage: Ala- -Xaa.; EC=3.4.21.36;.

Enzyme Numbers (IUBMB) for CELA1 Gene

Phenotypes From GWAS Catalog 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 IBA 21873635
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CELA1

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CELA1 gene
Compartment Confidence
extracellular 5
cytosol 3
cytoskeleton 1
nucleus 1

Gene Ontology (GO) - Cellular Components for CELA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IBA 21873635
genes like me logo Genes that share ontologies with CELA1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CELA1 Gene

Pathways & Interactions for CELA1 Gene

PathCards logo

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 by RNA polymerase II IEA --
GO:0006508 proteolysis IBA 21873635
GO:0006954 inflammatory response IEA --
GO:0009791 post-embryonic development IEA --
GO:0016055 Wnt signaling pathway 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7773
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

(1) ApexBio Compounds for CELA1 Gene

Compound Action Cas Number
Alvelestat NE inhibitor 848141-11-7
genes like me logo Genes that share compounds with CELA1: view

Drug Products

Transcripts for CELA1 Gene

mRNA/cDNA for CELA1 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(5) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CELA1

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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).

NURSA nuclear receptor signaling pathways regulating expression of CELA1 Gene:

CELA1

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.

Evidence on tissue expression from TISSUES for CELA1 Gene

  • Skin(4)
  • Nervous system(4)
  • Pancreas(2.9)
genes like me logo Genes that share expression patterns with CELA1: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 32
  • 99.48 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CELA1 33 32
  • 90.18 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CELA1 33 32
  • 89.36 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cela1 32
  • 87.68 (n)
mouse
(Mus musculus)
Mammalia Cela1 17 33 32
  • 85.6 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 38 (a)
ManyToMany
chicken
(Gallus gallus)
Aves CELA1 33 32
  • 70.33 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CELA1 33
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100135144 32
  • 68.65 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.2865 32
zebrafish
(Danio rerio)
Actinopterygii CELA1 (1 of 7) 33
  • 60 (a)
OneToMany
CELA1 (4 of 7) 33
  • 58 (a)
OneToMany
CELA1 (3 of 7) 33
  • 56 (a)
OneToMany
CELA1 (7 of 7) 33
  • 51 (a)
OneToMany
CELA1 (5 of 7) 33
  • 50 (a)
OneToMany
CELA1 (2 of 7) 33
  • 47 (a)
OneToMany
CELA1 (6 of 7) 33
  • 46 (a)
OneToMany
wufb65e06 32
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1383 32
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 25 (a)
OneToMany
Species where no ortholog for CELA1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CELA1: view image

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 Variation AA Info Type
VAR_036295 A breast cancer sample p.Gly76Ala
rs1491233894 benign, not specified 51,346,631(-) AC/ coding_sequence_variant, frameshift
rs377599213 benign, not specified 51,346,630(-) /C/T coding_sequence_variant, frameshift
rs1000034879 -- 51,335,935(-) C/T intron_variant
rs1000263224 -- 51,335,501(-) G/A intron_variant

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

Variant ID Type Subtype PubMed ID
nsv469377 CNV loss 19166990
nsv479054 CNV novel sequence insertion 20440878
nsv558877 CNV loss 21841781
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)

Additional Variant Information for CELA1 Gene

Human Gene Mutation Database (HGMD)
CELA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CELA1

SNP Genotyping and Copy Number Assay Products

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

Disorders for CELA1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for CELA1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
punctate palmoplantar keratoderma
  • punctate keratosis palmoplantaris
steatorrhea
  • fatty stool
pancreatic steatorrhea
  • pancreatic steatorrhoea
pancreatic acinar cell adenocarcinoma
  • pancreatic acinar cell carcinoma
holoprosencephaly 1
  • hpe1
- elite association - COSMIC cancer census association via MalaCards
Search CELA1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CELA1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 43 56
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 43 56
  3. Genetic risk factors for hepatopulmonary syndrome in patients with advanced liver disease. (PMID: 20346360) Roberts KE … Pulmonary Vascular Complications of Liver Disease Study Group (Gastroenterology 2010) 3 43 56
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56
  5. Human elastase 1: evidence for expression in the skin and the identification of a frequent frameshift polymorphism. (PMID: 10620133) Talas U … Kelsell DP (The Journal of investigative dermatology 2000) 3 4 56

Products for CELA1 Gene

Sources for CELA1 Gene