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

    Gene ID: 23436, updated on 28-Oct-2024

    Summary

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    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

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    See CELA3B in Genome Data Viewer
    Location:
    1p36.12
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (21977022..21998642)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (21800816..21822459)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (22303515..22315847)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 6146 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 390 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22148116-22148982 Neighboring gene low density lipoprotein receptor class A domain containing 2 Neighboring gene heparan sulfate proteoglycan 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22168222-22168722 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22170194-22170694 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22174882-22175382 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22175383-22175883 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:22178409-22179608 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22191053-22191858 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22191859-22192664 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 341 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22235910-22236626 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22236627-22237342 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22237343-22238058 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:22241885-22242040 Neighboring gene ribosomal protein L21 pseudogene 29 Neighboring gene Sharpr-MPRA regulatory region 4422 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22246290-22246830 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22247372-22247912 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:22248108-22248275 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22248994-22249533 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22254196-22254752 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22254753-22255307 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22258036-22258798 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22262253-22263094 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 391 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22271072-22271789 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22288389-22289052 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:22290537-22290804 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22312621-22313122 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22313123-22313622 Neighboring gene RNA, U6 small nuclear 1022, pseudogene Neighboring gene RNA, 7SL, cytoplasmic 386, pseudogene Neighboring gene RNA, 7SL, cytoplasmic 186, pseudogene Neighboring gene RNA, U6 small nuclear 776, pseudogene Neighboring gene chymotrypsin like elastase 3A

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Faecal elastase-1 is an independent predictor of survival in advanced pancreatic cancer. Partelli S, et al. Dig Liver Dis, 2012 Nov. PMID 22749648
    2. Pancreatic elastase-1 in stools, a marker of exocrine pancreas function, correlates with both residual beta-cell secretion and metabolic control in type 1 diabetic subjects. Cavalot F, et al. Diabetes Care, 2004 Aug. PMID 15277440
    3. Evaluation of fecal pancreatic elastase-1 as a measure of pancreatic exocrine function in children with cystic fibrosis. Cade A, et al. Pediatr Pulmonol, 2000 Mar. PMID 10686036
    4. Immunocytochemical localization of elastase 1 in human pancreas. Zhou H, et al. Histochem Cell Biol, 1995 Feb. PMID 7634150
    5. Studies on the specificity of the cholesterol-binding pancreatic proteinase and identification as human pancreatic elastase 1. Sziegoleit A, et al. Eur J Biochem, 1985 Sep 16. PMID 3928381

    See all (41) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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?
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. Complex Formation of Human Proelastases with Procarboxypeptidases A1 and A2.
      Title: Complex Formation of Human Proelastases with Procarboxypeptidases A1 and A2.
    7. 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.
    8. 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.
    9. 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].
    10. 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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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
    XP_047272536.1
    XP_047272537.1
    XP_047272539.1
    XP_054191661.1
    XP_054191662.1
    XP_054191663.1
    XP_054191664.1

    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)

    1. 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_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      21977022..21998642
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047416581.1 → XP_047272537.1  chymotrypsin-like elastase family member 3B isoform X2

    2. XM_047416583.1 → XP_047272539.1  chymotrypsin-like elastase family member 3B isoform X3

    3. XM_047416580.1 → XP_047272536.1  chymotrypsin-like elastase family member 3B isoform X1

    RNA

    1. XR_007058565.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      21800816..21822459
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054335687.1 → XP_054191662.1  chymotrypsin-like elastase family member 3B isoform X2

    2. XM_054335688.1 → XP_054191663.1  chymotrypsin-like elastase family member 3B isoform X3

    3. XM_054335686.1 → XP_054191661.1  chymotrypsin-like elastase family member 3B isoform X1

    4. XM_054335689.1 → XP_054191664.1  chymotrypsin-like elastase family member 3B isoform X4

    RNA

    1. XR_008485981.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P08861.3 GenPept UniProtKB/Swiss-Prot:P08861

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