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    CTRB1 chymotrypsinogen B1 [ Homo sapiens (human) ]

    Gene ID: 1504, updated on 9-Dec-2024

    Summary

    Official Symbol
    CTRB1provided by HGNC
    Official Full Name
    chymotrypsinogen B1provided by HGNC
    Primary source
    HGNC:HGNC:2521
    See related
    Ensembl:ENSG00000168925 MIM:118890; AllianceGenome:HGNC:2521
    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
    NEW
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    Genomic context

    See CTRB1 in Genome Data Viewer
    Location:
    16q23.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (75218988..75224924)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (81265733..81271673)
    RS_2024_09 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 H3K4me1 hESC enhancer GRCh37_chr16:75231710-75232210 Neighboring gene Sharpr-MPRA regulatory region 2157 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11124 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7710 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:75242541-75243096 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:75243097-75243652 Neighboring gene chymotrypsinogen B2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11125 Neighboring gene uncharacterized LOC100506281 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:75267182-75267807 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7711 Neighboring gene BCAR1 scaffold protein, Cas family member Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:75270483-75271324 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:75272167-75273008 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:75274691-75275532 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:75275533-75276374 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11126 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:75281985-75282648 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7712 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7713 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:75285734-75286274 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:75286815-75287355 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:75287356-75287895 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:75287896-75288436 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:75288976-75289516 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:75289517-75290056 Neighboring gene uncharacterized LOC105371344 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:75290057-75290597 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:75294897-75295696

    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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ42412, MGC88037

    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
     
    enables serine-type endopeptidase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in digestion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    chymotrypsinogen B
    NP_001316119.1
    NP_001897.4

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      UniProtKB/TrEMBL
      A0A2R8YCR2
      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: 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_000016.10 Reference GRCh38.p14 Primary Assembly

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

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654723.1 Reference GRCh38.p14 PATCHES

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      81265733..81271673
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)