CPA3 carboxypeptidase A3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CPA3provided by HGNC
Official Full Name: carboxypeptidase A3provided by HGNC
Primary source: HGNC:HGNC:2298
See related: Ensembl:ENSG00000163751 MIM:114851; AllianceGenome:HGNC:2298
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: MC-CPA
Summary: This gene encodes a member of the carboxypeptidase A family of zinc metalloproteases. The encoded preproprotein is proteolytically processed to generate a mature protease that is released by mast cells and may be involved in the degradation of endogenous proteins and the inactivation of venom-associated peptides. Expression of this gene may be elevated in human asthma patients. [provided by RefSeq, Nov 2015]
Expression: Biased expression in gall bladder (RPKM 74.3), lung (RPKM 46.6) and 11 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q24

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (148865296..148897203)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (151616046..151647965)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (148583083..148614990)

Chromosome 3 - NC_000003.12 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?

Severe COVID-19 is marked by dysregulated serum levels of carboxypeptidase A3 and serotonin.
Title: Severe COVID-19 is marked by dysregulated serum levels of carboxypeptidase A3 and serotonin.
Decreased serum level of carboxypeptidase is a hallmark of more advanced coronary artery disease.
Title: Mast cell derived carboxypeptidase A3 is decreased among patients with advanced coronary artery disease.
Carboxypeptidase A3 was differentially expressed between Fibromyalgia patients and healthy controls.
Title: Genome-wide expression profiling in the peripheral blood of patients with fibromyalgia.
Urine CPA3 was increased in patients with chronic prostatitis/chronic pelvic pain syndrome compared to controls.
Title: Tryptase-PAR2 axis in experimental autoimmune prostatitis, a model for chronic pelvic pain syndrome.
Role in regulating innate immunity responses and regulating secretory granule homeostasis
Title: Novel insights into the biological function of mast cell carboxypeptidase A.
The cDNA encoding human colon mast cell carboxypeptidase can be successfully cloned and expressed in E. coli and P. pastoris.
Title: Cloning and expression of human colon mast cell carboxypeptidase.

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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

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

G28614 (e-PCR)
- UniSTS:77210

GDB:251824 (e-PCR)
- UniSTS:156320

SHGC-77447 (e-PCR)
- UniSTS:1208

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metallocarboxypeptidase activity	EXP Inferred from Experiment more info	PubMed
enables metallocarboxypeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metallocarboxypeptidase activity	NAS Non-traceable Author Statement more info	PubMed
enables metallocarboxypeptidase activity	TAS Traceable Author Statement more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in angiotensin maturation	TAS Traceable Author Statement more info
involved_in proteolysis	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteolysis	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in extracellular region	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in secretory granule	NAS Non-traceable Author Statement more info	PubMed
located_in transport vesicle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: mast cell carboxypeptidase A

Names: carboxypeptidase A3 (mast cell); tissue carboxypeptidase A

NP_001861.2

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.

mRNA and Protein(s)

NM_001870.4 → NP_001861.2 mast cell carboxypeptidase A preproprotein

See identical proteins and their annotated locations for NP_001861.2

Status: REVIEWED

Source sequence(s)

AC092979, BC012613, BG501260, BX105358, DR005288, M27717

Consensus CDS

CCDS3138.1

UniProtKB/Swiss-Prot

P15088, Q96E94

UniProtKB/TrEMBL

B2R941

Related

ENSP00000296046.3, ENST00000296046.4

Conserved Domains (2) summary

cd03871
Location:114 → 413

M14_CPB; Peptidase M14 carboxypeptidase subfamily A/B-like; Carboxypeptidase B subgroup

pfam02244
Location:28 → 102

Propep_M14; Carboxypeptidase activation peptide