CELA1

Enzyme-encoding gene in humans
CELA1
Identifiers
AliasesCELA1, ELA1, chymotrypsin like elastase family member 1, chymotrypsin like elastase 1
External IDsOMIM: 130120; MGI: 95314; HomoloGene: 20454; GeneCards: CELA1; OMA:CELA1 - orthologs
Gene location (Human)
Chromosome 12 (human)
Chr.Chromosome 12 (human)[1]
Chromosome 12 (human)
Genomic location for CELA1
Genomic location for CELA1
Band12q13.13Start51,328,442 bp[1]
End51,346,679 bp[1]
Gene location (Mouse)
Chromosome 15 (mouse)
Chr.Chromosome 15 (mouse)[2]
Chromosome 15 (mouse)
Genomic location for CELA1
Genomic location for CELA1
Band15 F1|15 56.38 cMStart100,572,302 bp[2]
End100,585,802 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • testicle

  • left adrenal gland

  • right adrenal cortex

  • granulocyte

  • left adrenal cortex

  • monocyte

  • gonad

  • stromal cell of endometrium

  • blood

  • lymph node
Top expressed in
  • pyloric antrum

  • islet of Langerhans

  • left colon

  • right kidney

  • transitional epithelium of urinary bladder

  • duodenum

  • human kidney

  • lens

  • epithelium of stomach

  • epithelium of lens
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • metal ion binding
  • peptidase activity
  • serine-type peptidase activity
  • serine-type endopeptidase activity
  • hydrolase activity
Cellular component
  • extracellular region
  • extracellular space
Biological process
  • exocrine pancreas development
  • digestive system development
  • pancreas morphogenesis
  • multicellular organism growth
  • negative regulation of transcription by RNA polymerase II
  • Wnt signaling pathway
  • post-embryonic development
  • proteolysis
  • positive regulation of angiogenesis
  • regulation of cell population proliferation
  • regulation of cell differentiation
  • elastin catabolic process
  • inflammatory response
  • tissue remodeling
  • positive regulation of transcription by RNA polymerase II
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

1990

109901

Ensembl

ENSG00000139610

ENSMUSG00000023031

UniProt

Q9UNI1

Q91X79

RefSeq (mRNA)

NM_001971

NM_033612

RefSeq (protein)

NP_001962

NP_291090

Location (UCSC)Chr 12: 51.33 – 51.35 MbChr 15: 100.57 – 100.59 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Chymotrypsin-like elastase family member 1 (CELA1) also known as elastase-1 (ELA1) is an enzyme that in humans is encoded by the 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.

Tissue distribution

Elastase-1 was formerly designated pancreatic elastase 1. However unlike other elastases, pancreatic elastase 1 is not expressed in the pancreas. Hence this enzyme has been renamed as elastase-1. To date, elastase 1 expression has only been detected in skin keratinocytes. Literature that describes human elastase 1 activity in the pancreas or fecal material is actually referring to chymotrypsin-like elastase family, member 3B CELA3B).

Clinical significance

This enzyme has been linked to chronic pancreatitis .[5]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000139610 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000023031 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Gullo L, Ventrucci M, Tomassetti P, Migliori M, Pezzilli R (January 1999). "Fecal elastase 1 determination in chronic pancreatitis". Digestive Diseases and Sciences. 44 (1): 210–3. doi:10.1023/A:1026691209094. PMID 9952246. S2CID 1137506.

Further reading

  • Gullo L, Ventrucci M, Tomassetti P, Migliori M, Pezzilli R (January 1999). "Fecal elastase 1 determination in chronic pancreatitis". Digestive Diseases and Sciences. 44 (1): 210–3. doi:10.1023/A:1026691209094. PMID 9952246. S2CID 1137506.
  • Borowitz D, Baker SS, Duffy L, Baker RD, Fitzpatrick L, Gyamfi J, Jarembek K (September 2004). "Use of fecal elastase-1 to classify pancreatic status in patients with cystic fibrosis". The Journal of Pediatrics. 145 (3): 322–6. doi:10.1016/j.jpeds.2004.04.049. PMID 15343184.
  • Edelstein C, Italia JA, Scanu AM (April 1997). "Polymorphonuclear cells isolated from human peripheral blood cleave lipoprotein(a) and apolipoprotein(a) at multiple interkringle sites via the enzyme elastase. Generation of mini-Lp(a) particles and apo(a) fragments". The Journal of Biological Chemistry. 272 (17): 11079–87. doi:10.1074/jbc.272.17.11079. PMID 9111002.
  • Gustavsson EL, Ohlsson K, Olsson AS (1980). "Interaction between human pancreatic elastase and plasma protease inhibitors". Hoppe-Seyler's Zeitschrift für Physiologische Chemie. 361 (2): 169–76. doi:10.1515/bchm2.1980.361.1.169. PMID 6153632.
  • Tani T, Kawashima I, Furukawa H, Ohmine T, Takiguchi Y (March 1987). "Characterization of a silent gene for human pancreatic elastase I: structure of the 5'-flanking region". Journal of Biochemistry. 101 (3): 591–9. doi:10.1093/jb/101.3.591. PMID 3648024.
  • Kawashima I, Tani T, Mita-Honjo K, Shimoda-Takano K, Ohmine T, Furukawa H, Takiguchi Y (1992). "Genomic organization of the human homologue of the rat pancreatic elastase I gene". DNA Sequence. 2 (5): 303–12. doi:10.3109/10425179209030963. PMID 1633328.
  • Edelstein C, Italia JA, Klezovitch O, Scanu AM (August 1996). "Functional and metabolic differences between elastase-generated fragments of human lipoprotein[a] and apolipoprotein[a]". Journal of Lipid Research. 37 (8): 1786–801. doi:10.1016/S0022-2275(20)39122-7. PMID 8864963.
  • Tsunemi M, Matsuura Y, Sakakibara S, Katsube Y (September 1996). "Crystal structure of an elastase-specific inhibitor elafin complexed with porcine pancreatic elastase determined at 1.9 A resolution". Biochemistry. 35 (36): 11570–6. doi:10.1021/bi960900l. PMID 8794736.
  • The MEROPS online database for peptidases and their inhibitors: S01.153
  • Human CELA1 genome location and CELA1 gene details page in the UCSC Genome Browser.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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