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CTRB1 chymotrypsinogen B1 [ Homo sapiens (human) ]

Gene ID: 1504, updated on 2-Mar-2021

Summary

Official Symbol
CTRB1provided by HGNC
Official Full Name
chymotrypsinogen B1provided by HGNC
Primary source
HGNC:HGNC:2521
See related
Ensembl:ENSG00000168925 MIM:118890
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
CTRB
Summary
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]
Expression
Restricted expression toward pancreas (RPKM 35733.1) See more
Orthologs
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Genomic context

See CTRB1 in Genome Data Viewer
Location:
16q23.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (75218988..75224924)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (75252886..75258822)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene RPS4Y1 pseudogene 1 Neighboring gene chymotrypsinogen B2 Neighboring gene uncharacterized LOC100506281 Neighboring gene BCAR1 scaffold protein, Cas family member Neighboring gene uncharacterized LOC105371344 Neighboring gene Sharpr-MPRA regulatory region 10346

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ42412, MGC88037

Gene Ontology Provided by GOA

Function Evidence Code Pubs
serine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
serine-type endopeptidase activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cobalamin metabolic process TAS
Traceable Author Statement
more info
 
digestion IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix disassembly TAS
Traceable Author Statement
more info
 
proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
chymotrypsinogen B
NP_001316119.1
NP_001897.4

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.

Genomic

  1. NG_051057.1 RefSeqGene

    Range
    5003..10939
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001329190.2NP_001316119.1  chymotrypsinogen B isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the 3' coding region, compared to variant 1. It encodes isoform 2 which is shorter and has a distinct C-terminus, compared to isoform 1. This isoform (2) may undergo proteolytic processing similar to isoform 1.
    Source sequence(s)
    AW338596, BX497259, M24400
    UniProtKB/Swiss-Prot
    P17538
  2. NM_001906.6NP_001897.4  chymotrypsinogen B isoform 1 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).
    Source sequence(s)
    AW338596, BX497259, M24400
    Consensus CDS
    CCDS32490.1
    UniProtKB/Swiss-Prot
    P17538
    Related
    ENSP00000354294.4, ENST00000361017.9
    Conserved Domains (2) summary
    smart00020
    Location:33256
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:34259
    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: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    75218988..75224924
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_018654723.1 Reference GRCh38.p13 PATCHES

    Range
    52011..55136
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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