CPA1 carboxypeptidase A1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CPA1provided by HGNC
Official Full Name: carboxypeptidase A1provided by HGNC
Primary source: HGNC:HGNC:2296
See related: Ensembl:ENSG00000091704 MIM:114850; AllianceGenome:HGNC:2296
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: CPA
Summary: This gene encodes a member of the carboxypeptidase A family of zinc metalloproteases. This enzyme is produced in the pancreas and preferentially cleaves C-terminal branched-chain and aromatic amino acids from dietary proteins. This gene and several family members are present in a gene cluster on chromosome 7. Mutations in this gene may be linked to chronic pancreatitis, while elevated protein levels may be associated with pancreatic cancer. [provided by RefSeq, Jan 2015]
Expression: Restricted expression toward pancreas (RPKM 26661.6) See more
Orthologs: mouse all
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Genomic context

Location:: 7q32.2

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (130380494..130388108)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (131694217..131701830)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (130020335..130027949)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Novel p.G250A Mutation Associated with Chronic Pancreatitis Highlights Misfolding-Prone Region in Carboxypeptidase A1 (CPA1).
Title: Novel p.G250A Mutation Associated with Chronic Pancreatitis Highlights Misfolding-Prone Region in Carboxypeptidase A1 (CPA1).
Endoplasmic stress-inducing variants in CPB1 and CPA1 and risk of pancreatic cancer: A case-control study and meta-analysis.
Title: Endoplasmic stress-inducing variants in CPB1 and CPA1 and risk of pancreatic cancer: A case-control study and meta-analysis.
Enhanced carboxypeptidase efficacies and differentiation of peptide epimers.
Title: Enhanced carboxypeptidase efficacies and differentiation of peptide epimers.
Carboxypeptidase A1 (CPA1) Immunohistochemistry Is Highly Sensitive and Specific for Acinar Cell Carcinoma (ACC) of the Pancreas.
Title: Carboxypeptidase A1 (CPA1) Immunohistochemistry Is Highly Sensitive and Specific for Acinar Cell Carcinoma (ACC) of the Pancreas.
Carboxypeptidase A1 and regenerating islet-derived 1alpha as new markers for pancreatic acinar cell carcinoma.
Title: Carboxypeptidase A1 and regenerating islet-derived 1α as new markers for pancreatic acinar cell carcinoma.
study indicates ER stress-inducing variants in CPB1 and CPA1 are associated with pancreatic cancer susceptibility and implicate ER stress in pancreatic acinar cells in pancreatic cancer development.
Title: Mutations in the pancreatic secretory enzymes CPA1 and CPB1 are associated with pancreatic cancer.
Data found no significant enrichment of rare functionally defective CPA1 variants in a large Chinese idiopathic chronic pancreatitis cohort
Title: No significant enrichment of rare functionally defective CPA1 variants in a large Chinese idiopathic chronic pancreatitis cohort.
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.
Complex Formation of Human Proelastases with Procarboxypeptidases A1 and A2.
Title: Complex Formation of Human Proelastases with Procarboxypeptidases A1 and A2.
mechanism by which CPA1 variants confer increased pancreatitis risk may involve misfolding-induced endoplasmic reticulum stress rather than elevated trypsin activity
Title: Variants in CPA1 are strongly associated with early onset chronic pancreatitis.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH47473 (e-PCR)
- UniSTS:51998

CPA1 (e-PCR)
- UniSTS:45502

RH47474 (e-PCR)
- UniSTS:52926

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metallocarboxypeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metallocarboxypeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in leukotriene metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in proteolysis	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteolysis involved in protein catabolic process	IEA Inferred from Electronic Annotation more info
involved_in response to cadmium ion	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: carboxypeptidase A1

Names: carboxypeptidase A1 (pancreatic); pancreatic carboxypeptidase A

NP_001859.1

EC 3.4.17.1

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.

Genomic

NG_042276.1 RefSeqGene

Range

5124..12738

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001868.4 → NP_001859.1 carboxypeptidase A1 preproprotein

See identical proteins and their annotated locations for NP_001859.1

Status: REVIEWED

Source sequence(s)

AK291493, X67318

Consensus CDS

CCDS5820.1

UniProtKB/Swiss-Prot

A4D1M1, P15085, Q53XU0, Q9BS67, Q9UCF2

Related

ENSP00000011292.3, ENST00000011292.8

Conserved Domains (2) summary

cd03870
Location:117 → 417

M14_CPA; Peptidase M14 carboxypeptidase subfamily A/B-like; Carboxypeptidase A subgroup

pfam02244
Location:32 → 100

Propep_M14; Carboxypeptidase activation peptide