CELA3B chymotrypsin like elastase 3B [Homo sapiens (human)] - Gene

Summary

Official Symbol: CELA3Bprovided by HGNC
Official Full Name: chymotrypsin like elastase 3Bprovided by HGNC
Primary source: HGNC:HGNC:15945
See related: Ensembl:ENSG00000219073 MIM:618694; AllianceGenome:HGNC:15945
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: CBPP; ELA3B
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 3B has little elastolytic activity. Like most of the human elastases, elastase 3B 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 3B preferentially cleaves proteins after alanine residues. Elastase 3B 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, and excretion of this protein in fecal material is frequently used as a measure of pancreatic function in clinical assays. [provided by RefSeq, May 2009]
Expression: Restricted expression toward pancreas (RPKM 10341.0) See more
Orthologs: all
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Genomic context

Location:: 1p36.12

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (21977022..21998642)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (21800816..21822459)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (22303515..22315847)

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
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?

Does the Complex of CELA3B Variants With Other Pancreatitis-Related Genes Affect Developing Childhood Pancreatitis?
Title: Does the Complex of CELA3B Variants With Other Pancreatitis-Related Genes Affect Developing Childhood Pancreatitis?
Utility of Fecal Elastase-1 to diagnose severe exocrine insufficiency in chronic pancreatitis: Real world experience.
Title: Utility of Fecal Elastase-1 to diagnose severe exocrine insufficiency in chronic pancreatitis: Real world experience.
The reversion variant (p.Arg90Leu) at the evolutionarily adaptive p.Arg90 site in CELA3B predisposes to chronic pancreatitis.
Title: The reversion variant (p.Arg90Leu) at the evolutionarily adaptive p.Arg90 site in CELA3B predisposes to chronic pancreatitis.
Elastase 3B mutation links to familial pancreatitis with diabetes and pancreatic adenocarcinoma.
Title: Elastase 3B mutation links to familial pancreatitis with diabetes and pancreatic adenocarcinoma.
The aim of this study was to examine the frequency of exocrine dysfunctions of the pancreas according to the level of fecal elastase-1 (FE-1) in patients with diabetes mellitus, type 1 and diabetes mellitus, type 2.
Title: Fecal pancreatic elastase-1 and erythrocyte magnesium levels in diabetes type 1 and type 2.
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.
this study demonstrated a strong association of diabetes with low pancreatic elastase levels in feces
Title: Pancreatic Elastase Levels in Feces As A Marker of Exocrine Pancreatic Function in Patients With Diabetes Mellitus.
The results of the study suggest that the levels of apelin, TNF-alpha and elastase-1 are important diagnostic markers of CP in patients with type 2 diabetes mellitus.
Title: [DIAGNOSTIC MARKERS FOR CHRONIC PANCREATITIS IN PATIENTS WITH TYPE 2 DIABETES MELLITUS WITH DIFFERENT PHENOTYPE].
Recombinant type I pancreatic elastase improves unassisted arteriovenous fistula maturation in hemodialysis patients.
Title: Human type I pancreatic elastase treatment of arteriovenous fistulas in patients with chronic kidney disease.

Submit: New GeneRIF Correction See all GeneRIFs (20)

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

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables peptidase activity	TAS Traceable Author Statement more info	PubMed
enables serine-type endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables serine-type endopeptidase activity	NAS Non-traceable Author Statement more info	PubMed

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 3B

Names: cholesterol-binding pancreatic protease; chymotrypsin like elastase family member 3B; elastase 3B, pancreatic; elastase IIIB; elastase-3B; fecal elastase 1; pancreatic elastase 1; pancreatic endopeptidase E; protease E; proteinase E

NP_031378.1

EC 3.4.21.70

XP_047272536.1

EC 3.4.21.70

XP_047272537.1

EC 3.4.21.70

XP_047272539.1

EC 3.4.21.70

XP_054191661.1

EC 3.4.21.70

XP_054191662.1

EC 3.4.21.70

XP_054191663.1

EC 3.4.21.70

XP_054191664.1

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_007352.4 → NP_031378.1 chymotrypsin-like elastase family member 3B preproprotein

See identical proteins and their annotated locations for NP_031378.1

Status: REVIEWED

Source sequence(s)

BC005216, BM128949, BM129235

Consensus CDS

CCDS219.1

UniProtKB/Swiss-Prot

B2RE44, P08861, P11423, Q5VU28, Q5VU29, Q5VU30

UniProtKB/TrEMBL

Q96QL8

Related

ENSP00000338369.6, ENST00000337107.11

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 ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

21977022..21998642

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047416581.1 → XP_047272537.1 chymotrypsin-like elastase family member 3B isoform X2
XM_047416583.1 → XP_047272539.1 chymotrypsin-like elastase family member 3B isoform X3
XM_047416580.1 → XP_047272536.1 chymotrypsin-like elastase family member 3B isoform X1

RNA

XR_007058565.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

21800816..21822459

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054335687.1 → XP_054191662.1 chymotrypsin-like elastase family member 3B isoform X2
XM_054335688.1 → XP_054191663.1 chymotrypsin-like elastase family member 3B isoform X3
XM_054335686.1 → XP_054191661.1 chymotrypsin-like elastase family member 3B isoform X1
XM_054335689.1 → XP_054191664.1 chymotrypsin-like elastase family member 3B isoform X4