This gene encodes a member of the serine protease family of enzymes and forms a principal precursor of the pancreatic proteolytic enzymes. The encoded preproprotein is synthesized in the acinar cells of the pancreas and secreted into the small intestine where it undergoes proteolytic activation to generate a functional enzyme. This CTRB1 gene is located head-to-head with the re... See more...

Aliases for CTRB1 Gene

Aliases for CTRB1 Gene

  • Chymotrypsinogen B1 2 3 5
  • Chymotrypsinogen B 3 4
  • EC 3.4.21.1 4 50
  • CTRB 3 4
  • EC 3.4.21 50
  • CTRB1 5

External Ids for CTRB1 Gene

Previous HGNC Symbols for CTRB1 Gene

  • CTRB

Previous GeneCards Identifiers for CTRB1 Gene

  • GC16M066168
  • GC16P076213
  • GC16P074991
  • GC16P075032
  • GC16P075003
  • GC16P073810
  • GC16P075252
  • GC16P061006

Summaries for CTRB1 Gene

Entrez Gene Summary for CTRB1 Gene

  • This gene encodes a member of the serine protease family of enzymes and forms a principal precursor of the pancreatic proteolytic enzymes. The encoded preproprotein is synthesized in the acinar cells of the pancreas and secreted into the small intestine where it undergoes proteolytic activation to generate a functional enzyme. This CTRB1 gene is located head-to-head with the related CTRB2 gene. Some human populations have an alternate haplotype which inverts a 16.6 Kb region containing portions of intron 1, exon 1, and the upstream sequence of the CTRB1 and CTRB2 genes. In this inversion haplotype exon 1 and flanking sequence is swapped in CTRB1 and CTRB2. This inversion is associated with differential gene expression and increased risk for chronic pancreatitis. The GRCh38 assembly represents the minor allele for SNP rs8048956 of the CTRB1 gene. SNP rs8048956 in intron 1 of the CTRB2 gene is diagnostic for this inversion. This CTRB1 gene encodes distinct isoforms, some or all of which may undergo similar processing to generate the mature protein. [provided by RefSeq, Jan 2021]

GeneCards Summary for CTRB1 Gene

CTRB1 (Chymotrypsinogen B1) is a Protein Coding gene. Diseases associated with CTRB1 include Pancreatitis and Maturity-Onset Diabetes Of The Young. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Cobalamin (Cbl, vitamin B12) transport and metabolism. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity. An important paralog of this gene is CTRB2.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CTRB1 Gene

Genomics for CTRB1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CTRB1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CTRB1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CTRB1

Top Transcription factor binding sites by QIAGEN in the CTRB1 gene promoter:
  • GATA-1
  • GATA-2
  • GATA-3
  • ITF-2
  • NF-1
  • PPAR-gamma1
  • PPAR-gamma2
  • SREBP-1a
  • SREBP-1b
  • Tal-1beta

Genomic Locations for CTRB1 Gene

Latest Assembly
chr16:75,218,988-75,226,338
(GRCh38/hg38)
Size:
7,351 bases
Orientation:
Plus strand

Previous Assembly
chr16:75,252,886-75,258,822
(GRCh37/hg19 by Entrez Gene)
Size:
5,937 bases
Orientation:
Plus strand

chr16:75,252,898-75,258,822
(GRCh37/hg19 by Ensembl)
Size:
5,925 bases
Orientation:
Plus strand

Alternative Locations (GRCh38/hg38)

  • chr16(PATCHES):52,011-55,136 (+)

Genomic View for CTRB1 Gene

Genes around CTRB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CTRB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CTRB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CTRB1 Gene

Proteins for CTRB1 Gene

  • Protein details for CTRB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P17538-CTRB1_HUMAN
    Recommended name:
    Chymotrypsinogen B
    Protein Accession:
    P17538

    Protein attributes for CTRB1 Gene

    Size:
    263 amino acids
    Molecular mass:
    27713 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CTRB1 Gene

Selected DME Specific Peptides for CTRB1 Gene

P17538:
  • LKIAKVFKN
  • DDFPAGTLC
  • GDSGGPL
  • DVVVAGEFDQGSDEEN
  • WVVTAAHC
  • SGGPLVC
  • FCGGSLI
  • GIVSWGS
  • HFCGGSL
  • WPWQVSL

Post-translational modifications for CTRB1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CTRB1 Gene

Protein products for research

  • Abcam proteins for CTRB1

Domains & Families for CTRB1 Gene

Gene Families for CTRB1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for CTRB1 Gene

InterPro:
Blocks:
  • Serine protease, trypsin family
  • Chymotrypsin serine protease family (S1) signature

Suggested Antigen Peptide Sequences for CTRB1 Gene

GenScript: Design optimal peptide antigens:
  • Chymotrypsinogen B (CTRB1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P17538

UniProtKB/Swiss-Prot:

CTRB1_HUMAN :
  • Belongs to the peptidase S1 family.
Family:
  • Belongs to the peptidase S1 family.
genes like me logo Genes that share domains with CTRB1: view

Function for CTRB1 Gene

Molecular function for CTRB1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Preferential cleavage: Tyr-|-Xaa, Trp-|-Xaa, Phe-|-Xaa, Leu-|-Xaa.; EC=3.4.21.1; Evidence={ECO:0000255|PROSITE-ProRule:PRU10078, ECO:0000255|PROSITE-ProRule:PRU10079};.
GENATLAS Biochemistry:
chymotrypsinogen B1

Enzyme Numbers (IUBMB) for CTRB1 Gene

Phenotypes From GWAS Catalog for CTRB1 Gene

Gene Ontology (GO) - Molecular Function for CTRB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IEA,NAS 2917002
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with CTRB1: view
genes like me logo Genes that share phenotypes with CTRB1: view

Animal Models for research

  • Taconic Biosciences Mouse Models for CTRB1

miRNA for CTRB1 Gene

miRTarBase miRNAs that target CTRB1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CTRB1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CTRB1 Gene

Localization for CTRB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CTRB1 Gene

Secreted, extracellular space.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CTRB1 gene
Compartment Confidence
extracellular 5
plasma membrane 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CTRB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA --
genes like me logo Genes that share ontologies with CTRB1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CTRB1 Gene

Pathways & Interactions for CTRB1 Gene

genes like me logo Genes that share pathways with CTRB1: view

Gene Ontology (GO) - Biological Process for CTRB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA,IBA 21873635
GO:0007586 digestion IEA --
GO:0009235 cobalamin metabolic process TAS --
GO:0022617 extracellular matrix disassembly TAS --
genes like me logo Genes that share ontologies with CTRB1: view

No data available for SIGNOR curated interactions for CTRB1 Gene

Drugs & Compounds for CTRB1 Gene

(16) Drugs for CTRB1 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aprotinin Approved, Investigational, Withdrawn Pharma Target Inhibitor of bovine pancreatic trypsin 28
(2S) N-acetyl-L-alanyl-αL-phenylalanyl-chloroethylketone Experimental Pharma Target 0
1,1,1-TRIFLUORO-3-((N-ACETYL)-L-LEUCYLAMIDO)-4-PHENYL-BUTAN-2-ONE(N-ACETYL-L-LEUCYL-L-PHENYLALANYL TRIFLUOROMETHYL KETONE) Experimental Pharma Target 0
1,1,1-TRIFLUORO-3-ACETAMIDO-4-PHENYL BUTAN-2-ONE(N-ACETYL-L-PHENYLALANYL TRIFLUOROMETHYL KETONE) Experimental Pharma Target 0
2,4-Dihydroxy-Trans Cinnamic Acid Experimental Pharma Target 0
genes like me logo Genes that share compounds with CTRB1: view

Transcripts for CTRB1 Gene

mRNA/cDNA for CTRB1 Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CTRB1

Alternative Splicing Database (ASD) splice patterns (SP) for CTRB1 Gene

No ASD Table

Relevant External Links for CTRB1 Gene

GeneLoc Exon Structure for
CTRB1

Expression for CTRB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CTRB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CTRB1 Gene

This gene is overexpressed in Pancreas (x52.9).

Protein differential expression in normal tissues from HIPED for CTRB1 Gene

This gene is overexpressed in Pancreatic juice (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CTRB1 Gene



Protein tissue co-expression partners for CTRB1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CTRB1

SOURCE GeneReport for Unigene cluster for CTRB1 Gene:

Hs.610926

Evidence on tissue expression from TISSUES for CTRB1 Gene

  • Pancreas(5)
genes like me logo Genes that share expression patterns with CTRB1: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CTRB1 Gene

Orthologs for CTRB1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CTRB1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CTRB1 29 30
  • 96.7 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CTRB2 29
  • 87.2 (n)
-- 30
  • 86 (a)
ManyToMany
-- 30
  • 74 (a)
ManyToMany
Cow
(Bos Taurus)
Mammalia CTRB1 29
  • 87.2 (n)
-- 30
  • 69 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Ctrb1 30
  • 85 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 74 (a)
ManyToMany
-- 30
  • 55 (a)
ManyToMany
-- 30
  • 54 (a)
ManyToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 69 (a)
OneToMany
Chicken
(Gallus gallus)
Aves -- 30
  • 70 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 46 (a)
ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC101733231 29
  • 64.26 (n)
LOC394984 29
African clawed frog
(Xenopus laevis)
Amphibia MGC64417 29
Zebrafish
(Danio rerio)
Actinopterygii zgc:136461 30
  • 68 (a)
ManyToMany
ctrb1 30
  • 38 (a)
ManyToMany
wufb61f07 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1189 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG31728 29
  • 51.72 (n)
CG11836 31
  • 40 (a)
Sb 31
  • 37 (a)
CG8213 31
  • 36 (a)
mas 31
  • 35 (a)
Jon99Ciii 30
  • 32 (a)
ManyToMany
Jon99Cii 30
  • 32 (a)
ManyToMany
CG8172 31
  • 32 (a)
Jon99Fi 30
  • 31 (a)
ManyToMany
Jon44E 30
  • 31 (a)
ManyToMany
Jon99Fii 30
  • 31 (a)
ManyToMany
Jon66Cii 30
  • 31 (a)
ManyToMany
CG8952 30
  • 30 (a)
ManyToMany
Jon65Aii 30
  • 30 (a)
ManyToMany
Jon25Bi 30
  • 30 (a)
ManyToMany
yip7 30
  • 30 (a)
ManyToMany
Jon25Biii 30
  • 30 (a)
ManyToMany
CG10469 30
  • 30 (a)
ManyToMany
Jon66Ci 30
  • 30 (a)
ManyToMany
CG7542 30
  • 29 (a)
ManyToMany
CG18179 30
  • 28 (a)
ManyToMany
Jon65Aiii 30
  • 28 (a)
ManyToMany
Jon25Bii 30
  • 28 (a)
ManyToMany
Jon65Ai 30
  • 28 (a)
ManyToMany
CG10472 30 31
  • 28 (a)
ManyToMany
Jon99Ci 30
  • 28 (a)
ManyToMany
CG18180 30
  • 27 (a)
ManyToMany
CG8329 30
  • 27 (a)
ManyToMany
CG10477 30
  • 27 (a)
ManyToMany
CG11529 30
  • 27 (a)
ManyToMany
Jon65Aiv 30
  • 27 (a)
ManyToMany
CG3088 30
  • 27 (a)
ManyToMany
CG6462 30
  • 24 (a)
ManyToMany
sphinx2 30
  • 21 (a)
ManyToMany
sphinx1 30
  • 20 (a)
ManyToMany
Jon74E 30
  • 18 (a)
ManyToMany
CG6592 30
  • 17 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta CLIPD2 29
  • 49.86 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 25 (a)
ManyToMany
Species where no ortholog for CTRB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CTRB1 Gene

ENSEMBL:
Gene Tree for CTRB1 (if available)
TreeFam:
Gene Tree for CTRB1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CTRB1: view image
Alliance of Genome Resources:
Additional Orthologs for CTRB1

Paralogs for CTRB1 Gene

Paralogs for CTRB1 Gene

genes like me logo Genes that share paralogs with CTRB1: view

Variants for CTRB1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CTRB1 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs193920783 Uncertain Significance: Malignant tumor of prostate 75,224,707(+) C/T
NM_001906.6(CTRB1):c.633C>T (p.Gly211=)
NONSENSE,SYNONYMOUS
rs4737 -- p.Thr250Ala
rs8061550 -- p.Asp222His

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CTRB1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CTRB1 Gene

Variant ID Type Subtype PubMed ID
dgv1638e59 OTHER inversion 20981092
dgv20n50 OTHER inversion 21212237
dgv25n47 OTHER inversion 21111241
dgv51n16 OTHER inversion 17901297
esv1000574 OTHER inversion 20482838
esv1356452 OTHER inversion 17803354
esv2504659 OTHER inversion 19546169
esv2668023 CNV deletion 23128226
esv3582319 CNV loss 25503493
esv3582320 CNV loss 25503493
esv3639087 CNV loss 21293372
nsv1116159 CNV deletion 24896259
nsv1127514 CNV deletion 24896259
nsv149 OTHER inversion 15895083
nsv482198 CNV gain 20164927
nsv516504 CNV gain+loss 19592680
nsv523405 CNV loss 19592680
nsv7286 OTHER inversion 18451855
nsv833282 CNV gain+loss 17160897

Variation tolerance for CTRB1 Gene

Gene Damage Index Score: 2.48; 43.44% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CTRB1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CTRB1
Leiden Open Variation Database (LOVD)
CTRB1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CTRB1 Gene

Disorders for CTRB1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CTRB1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
pancreatitis
maturity-onset diabetes of the young
  • mody
- elite association - COSMIC cancer census association via MalaCards
Search CTRB1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CTRB1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CTRB1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CTRB1 Gene

Publications for CTRB1 Gene

  1. Molecular cloning and nucleotide sequence of human pancreatic prechymotrypsinogen cDNA. (PMID: 2917002) Tomita N … Matsubara K (Biochemical and biophysical research communications 1989) 2 3 4
  2. Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects. (PMID: 19844255) Dastani Z … Genest J (European journal of human genetics : EJHG 2010) 3 40
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. Genomic cloning and partial characterization of human chymotrypsinogen gene. (PMID: 8186414) Hou DX … Soeda E (The Japanese journal of human genetics 1993) 2 3
  5. Sequencing of the complex CTRB1-CTRB2 locus in chronic pancreatitis. (PMID: 33036922) Seltsam K … Rosendahl J (Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] 2020) 3

Products for CTRB1 Gene

Sources for CTRB1 Gene