CELA3A chymotrypsin like elastase 3A [Homo sapiens (human)] - Gene

Summary

Official Symbol: CELA3Aprovided by HGNC
Official Full Name: chymotrypsin like elastase 3Aprovided by HGNC
Primary source: HGNC:HGNC:15944
See related: Ensembl:ENSG00000142789 MIM:618693; AllianceGenome:HGNC:15944
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: ELA3; ELA3A
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, 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]
Expression: Restricted expression toward pancreas (RPKM 29060.2) See more
Orthologs: all
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Genomic context

Location:: 1p36.12

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (22001657..22012542)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (21825474..21836366)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (22328150..22339035)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Complex Formation of Human Proelastases with Procarboxypeptidases A1 and A2.
Title: Complex Formation of Human Proelastases with Procarboxypeptidases A1 and A2.
variants affecting amino-acid position 241 in CELA3A and CELA3B are not associated with chronic pancreatitis, indicating that changes in complex formation between proelastases and procarboxypeptidases do not alter pancreatitis risk.
Title: Genetic Analysis of Human Chymotrypsin-Like Elastases 3A and 3B (CELA3A and CELA3B) to Assess the Role of Complex Formation between Proelastases and Procarboxypeptidases in Chronic Pancreatitis.
expression of PE IIIA and its splicing variants in pancreatic carcinoma cells
Title: Pancreatic elastase IIIA and its variants are expressed in pancreatic carcinoma cells.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-74352 (e-PCR)
- UniSTS:10279

SHGC-74350 (e-PCR)
- UniSTS:81729

RH93521 (e-PCR)
- UniSTS:86445

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables serine-type endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in proteolysis	IBA Inferred from Biological aspect of Ancestor 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 3A

Names: chymotrypsin like elastase family member 3A; elastase 1; elastase 3A, pancreatic; elastase IIIA; elastase-3A; protease E

NP_005738.4

EC 3.4.21.70

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_005747.5 → NP_005738.4 chymotrypsin-like elastase family member 3A preproprotein

See identical proteins and their annotated locations for NP_005738.4

Status: REVIEWED

Source sequence(s)

AK225620, AW583482, BC015103

Consensus CDS

CCDS220.1

UniProtKB/Swiss-Prot

B1AQ53, P09093, Q9BRW4

UniProtKB/TrEMBL

Q96QL8

Related

ENSP00000290122.3, ENST00000290122.8

Conserved Domains (2) summary

smart00020
Location:28 → 263

Tryp_SPc; Trypsin-like serine protease

cd00190
Location:29 → 266

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 ...