CELA1 chymotrypsin like elastase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CELA1provided by HGNC
Official Full Name: chymotrypsin like elastase 1provided by HGNC
Primary source: HGNC:HGNC:3308
See related: Ensembl:ENSG00000139610 MIM:130120; AllianceGenome:HGNC:3308
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ELA1
Summary: 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]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.13

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (51328442..51346679, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (51291249..51309485, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (51722226..51740463, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

High Serum Elastase 1 Level is associated with Postoperative Recurrence in Patients with Well-Differentiated Pancreatic Neuroendocrine Neoplasms.
Title: Serum Elastase 1 Level as a Risk Factor for Postoperative Recurrence in Patients with Well-Differentiated Pancreatic Neuroendocrine Neoplasms.
Results show that fecal elastase 1 (FE1) fails to detect steatorrhea in patients with locally advanced pancreatic cancer (LAPC) and is an inappropriate marker of exocrine pancreatic insufficiency in daily clinical practice.
Title: Fecal Elastase Fails to Detect Steatorrhea in Patients With Locally Advanced Pancreatic Cancer.
A heterozygous frameshift variant c.419delC in exons of the CELA1 gene identified in all punctate palmoplantar keratoderma patients.
Title: [Molecular genetic study of a family affected with punctate palmoplantar keratoderma].
Inverse association of HbA1c with faecal elastase 1 in people without diabetes suggests that pancreatic exocrine dysfunction might be an early disturbance that develops in parallel with hyperglycemia.
Title: Inverse association of HbA1c with faecal elastase 1 in people without diabetes.
Results indicate that the extract of the mycelium of Tricholoma matsutake decreased elastase activity in a dose-dependent manner and reduced the levels of matrix metalloproteinase 1 (MMP-1).
Title: Extract of the mycelium of T. matsutake inhibits elastase activity and TPA-induced MMP-1 expression in human fibroblasts.
Mutant genes (CELA1, HSPG2, and KCNK5) in Balkan endemic nephropathy patients encode proteins involved in basement membrane/extracellular matrix and vascular tone, tightly connected to process of angiogenesis.
Title: NGS nominated CELA1, HSPG2, and KCNK5 as candidate genes for predisposition to Balkan endemic nephropathy.
Data indicate that fecal elastase-1 was lower in the pancreaticoduodenectomy (PD) group.
Title: Nutritional status, fecal elastase-1, and 13C-labeled mixed triglyceride breath test in the long-term after pancreaticoduodenectomy.
Fecal elastase-1 is useful to identify pancreatic insufficiency. Steatorrhea is anticipated in non-operated patients only when FE-1 is below the limit for a confident measurement of our assay
Title: Fecal elastase-1 is useful in the detection of steatorrhea in patients with pancreatic diseases but not after pancreatic resection.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Screening in Jurkat T-cells with a short-hairpin-RNA (shRNA) library identifies elastase-1 (CELA1; serine protease) is important for HIV-1 replication	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D12S1273 (e-PCR)
- UniSTS:151827

NoName (e-PCR)
- UniSTS:480658

NoName (e-PCR)
- UniSTS:490446

NoName (e-PCR)
- UniSTS:482298

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables serine-type endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables serine-type endopeptidase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in elastin catabolic process	IEA Inferred from Electronic Annotation more info
involved_in exocrine pancreas development	IEA Inferred from Electronic Annotation more info
involved_in inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in multicellular organism growth	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in pancreas morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in post-embryonic development	IEA Inferred from Electronic Annotation more info
involved_in proteolysis	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in tissue remodeling	IEA Inferred from Electronic Annotation more info
involved_in transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: chymotrypsin-like elastase family member 1

Names: chymotrypsin like elastase family member 1; elastase 1, pancreatic; elastase-1; pancreatic elastase 1

NP_001962.3

EC 3.4.21.36

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001971.6 → NP_001962.3 chymotrypsin-like elastase family member 1

See identical proteins and their annotated locations for NP_001962.3

Status: REVIEWED

Source sequence(s)

AC046135, AF120493, BC069454

Consensus CDS

CCDS8812.1

UniProtKB/Swiss-Prot

Q5MLF0, Q6DJT0, Q6ISM6, Q9UNI1

Related

ENSP00000293636.1, ENST00000293636.2

Conserved Domains (1) summary

cd00190
Location:19 → 254

Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...