CTRC chymotrypsin C [Homo sapiens (human)] - Gene

Summary

Official Symbol: CTRCprovided by HGNC
Official Full Name: chymotrypsin Cprovided by HGNC
Primary source: HGNC:HGNC:2523
See related: Ensembl:ENSG00000162438 MIM:601405; AllianceGenome:HGNC:2523
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: CLCR; ELA4
Summary: This gene encodes a member of the peptidase S1 family. The encoded protein is a serum calcium-decreasing factor that has chymotrypsin-like protease activity. Alternatively spliced transcript variants have been observed, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward pancreas (RPKM 2413.6) See more
Orthologs: all
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Genomic context

Location:: 1p36.21

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (15438443..15449242)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (14883158..14893965)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (15764939..15775737)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Risk of chronic pancreatitis in carriers of the c.180C>T (p.Gly60=) CTRC variant: case-control studies and meta-analysis.
Title: Risk of chronic pancreatitis in carriers of the c.180C>T (p.Gly60=) CTRC variant: case-control studies and meta-analysis.
Risk of chronic pancreatitis in carriers of loss-of-function CTRC variants: A meta-analysis.
Title: Risk of chronic pancreatitis in carriers of loss-of-function CTRC variants: A meta-analysis.
Clinical interpretation of SPINK1 and CTRC variants in pancreatitis.
Title: Clinical interpretation of SPINK1 and CTRC variants in pancreatitis.
Chronic pancreatitis with polycystic kidney disease: A rare coincidence?
Title: Chronic pancreatitis with polycystic kidney disease: A rare coincidence?
Association between genetic variants in CYP2E1 and CTRC genes and susceptibility to alcoholic pancreatitis: A systematic review and meta-analysis.
Title: Association between genetic variants in CYP2E1 and CTRC genes and susceptibility to alcoholic pancreatitis: A systematic review and meta-analysis.
Inactivation of mesotrypsin by chymotrypsin C prevents trypsin inhibitor degradation.
Title: Inactivation of mesotrypsin by chymotrypsin C prevents trypsin inhibitor degradation.
No relationship between the c.738_761del and p.Arg254Trp mutations and the development of alcoholic chronic pancreatitis was found
Title: Do CTRC mutations affect the development of alcoholic chronic pancreatitis and its course among Poles: Preliminary study.
CTRC variants, including p.Gly60Gly (c.180C>T) variant are significant chronic pancreatitis risk factors in pediatric patients. Screening for CTRC variants should be always considered in routine molecular diagnostics in early onset chronic pancreatitis.
Title: Chymotrypsinogen C Genetic Variants, Including c.180TT, Are Strongly Associated With Chronic Pancreatitis in Pediatric Patients.
Our preliminary results show that the CTRC polymorphism p.G60= (c.180C>T) is frequent in patients with pancreatic cancer. However, further research is needed to verify our findings.
Title: CTRC gene polymorphism may increase pancreatic cancer risk - preliminary study.
Gene mutations were present in PRSS1 in 26 patients with acute recurrent and chronic pancreatitis, SPINK1 in 23, CTRC in 3, and CPA1 in 5. In the 31 patients with mutations in SPINK1, CTRC, or CPA1, 16 (51.6%) had homozygous or heterozygous mutations with other mutations.
Title: Genetic Analysis of Japanese Children With Acute Recurrent and Chronic Pancreatitis.

Submit: New GeneRIF Correction See all GeneRIFs (37)

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

Associated conditions

Description	Tests
Hereditary pancreatitis MedGen: C0238339 OMIM: 167800 GeneReviews: PRSS1-Related Hereditary Pancreatitis, Pancreatitis Overview	Compare labs

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

D11S2921 (e-PCR)
- UniSTS:152074

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

D10S16 (e-PCR)
- UniSTS:155756

D8S1735 (e-PCR)
- UniSTS:15781

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables peptidase activity	IDA Inferred from Direct Assay more info	PubMed
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

Process	Evidence Code	Pubs
acts_upstream_of_or_within intracellular calcium ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in proteolysis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within proteolysis	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: chymotrypsin-C

Names: caldecrin; chymotrypsinogen C; elastase 4; elastase IV; serum calcium decreasing factor

NP_009203.2

EC 3.4.21.2

XP_011538852.1

EC 3.4.21.2

XP_054190022.1

EC 3.4.21.2

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

NG_009253.2 RefSeqGene

Range

5002..15801

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_007272.3 → NP_009203.2 chymotrypsin-C preproprotein

See identical proteins and their annotated locations for NP_009203.2

Status: REVIEWED

Source sequence(s)

AL031283, BC015118, S82198

Consensus CDS

CCDS156.1

UniProtKB/Swiss-Prot

A8K082, O00765, Q99895, Q9NUH5

Related

ENSP00000365116.4, ENST00000375949.5

Conserved Domains (1) summary

cd00190
Location:30 → 265

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

15438443..15449242

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011540550.2 → XP_011538852.1 chymotrypsin-C isoform X1

Conserved Domains (2) summary

smart00020
Location:29 → 163

Tryp_SPc; Trypsin-like serine protease

cd00190
Location:30 → 173

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 ...