CORIN corin, serine peptidase [Homo sapiens (human)] - Gene

Summary

Official Symbol: CORINprovided by HGNC
Official Full Name: corin, serine peptidaseprovided by HGNC
Primary source: HGNC:HGNC:19012
See related: Ensembl:ENSG00000145244 MIM:605236; AllianceGenome:HGNC:19012
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: CRN; ATC2; Lrp4; PEE5; CMH30; TMPRSS10
Summary: This gene encodes a member of the type II transmembrane serine protease class of the trypsin superfamily. Members of this family are composed of multiple structurally distinct domains. The encoded protein converts pro-atrial natriuretic peptide to biologically active atrial natriuretic peptide, a cardiac hormone that regulates blood volume and pressure. This protein may also function as a pro-brain-type natriuretic peptide convertase. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]
Expression: Biased expression in heart (RPKM 20.5), skin (RPKM 3.4) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4p12

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (47594001..47838067, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (47561341..47805399, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (47596018..47840084, complement)

Chromosome 4 - NC_000004.12 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?

Association between CORIN promoter methylation and hypertensive disorders of pregnancy - A nested case-control study.
Title: Association between CORIN promoter methylation and hypertensive disorders of pregnancy - A nested case-control study.
Corin and Left Atrial Cardiomyopathy, Hypertension, Arrhythmia, and Fibrosis.
Title: Corin and Left Atrial Cardiomyopathy, Hypertension, Arrhythmia, and Fibrosis.
Chronic Kidney Disease Is Associated With Increased Cardiac Corin Expression But Decreased Proatrial Natriuretic Peptide Conversion Activity.
Title: Chronic Kidney Disease Is Associated With Increased Cardiac Corin Expression But Decreased Proatrial Natriuretic Peptide Conversion Activity.
Correlation between N-terminal pro-atrial natriuretic peptide, corin, and target organ damage in hypertensive disorders of pregnancy.
Title: Correlation between N-terminal pro-atrial natriuretic peptide, corin, and target organ damage in hypertensive disorders of pregnancy.
Rare, Damaging DNA Variants in CORIN and Risk of Coronary Artery Disease: Insights From Functional Genomics and Large-Scale Sequencing Analyses.
Title: Rare, Damaging DNA Variants in CORIN and Risk of Coronary Artery Disease: Insights From Functional Genomics and Large-Scale Sequencing Analyses.
Associations of corin genetic polymorphisms with salt sensitivity, blood pressure changes, and hypertension incidence in Chinese adults.
Title: Associations of corin genetic polymorphisms with salt sensitivity, blood pressure changes, and hypertension incidence in Chinese adults.
Low serum corin levels predict end-organ damage in patients with hypertensive crisis.
Title: Low serum corin levels predict end-organ damage in patients with hypertensive crisis.
Function and regulation of corin in physiology and disease.
Title: Function and regulation of corin in physiology and disease.
A common CORIN variant in hypertension reduces corin intracellular trafficking by exposing an inhibitory N-terminus.
Title: A common CORIN variant in hypertension reduces corin intracellular trafficking by exposing an inhibitory N-terminus.
Kruppel-like factor 17 upregulates uterine corin expression and promotes spiral artery remodeling in pregnancy.
Title: Krüppel-like factor 17 upregulates uterine corin expression and promotes spiral artery remodeling in pregnancy.

Submit: New GeneRIF Correction See all GeneRIFs (67)

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
Cardiomyopathy, familial hypertrophic, 30, atrial MedGen: CN376925 OMIM: 620734 GeneReviews: Not available	not available
Preeclampsia/eclampsia 5 MedGen: C3281288 OMIM: 614595 GeneReviews: Not available	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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of corin, serine peptidase (CORIN) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2279 (e-PCR)
- UniSTS:473907

SHGC-79109 (e-PCR)
- UniSTS:95810

RH120903 (e-PCR)
- UniSTS:133736

SHGC-79160 (e-PCR)
- UniSTS:95857

SHGC-78843 (e-PCR)
- UniSTS:95702

SHGC-58819 (e-PCR)
- UniSTS:94457

D4S2706 (e-PCR)
- UniSTS:25343

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables endopeptidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables serine-type endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables serine-type endopeptidase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in female pregnancy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in peptide hormone processing	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of blood pressure	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cardiac conduction	TAS Traceable Author Statement more info
involved_in regulation of renal sodium excretion	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of systemic arterial blood pressure by atrial natriuretic peptide	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of systemic arterial blood pressure by atrial natriuretic peptide	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in actin cytoskeleton	IDA Inferred from Direct Assay more info
located_in cell surface	IEA Inferred from Electronic Annotation more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in nuclear body	IDA Inferred from Direct Assay more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: atrial natriuretic peptide-converting enzyme

Names: heart-specific serine proteinase ATC2; pro-ANP-convertase; pro-ANP-converting enzyme; transmembrane protease serine 10

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_032679.1 RefSeqGene

Range

4976..249042

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001278585.2 → NP_001265514.1 atrial natriuretic peptide-converting enzyme isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks two in-frame exons in the coding region, compared to variant 1. The resulting isoform (2) lacks two internal segments, compared to isoform 1.

Source sequence(s)

AF133845, AI378383, AK304038, AK304466

Consensus CDS

CCDS75122.1

UniProtKB/TrEMBL

A0A087X1D5, J3KR88

Related

ENSP00000484087.1, ENST00000610355.4

Conserved Domains (6) summary

cd07445
Location:69 → 196

CRD_corin_1; One of two cysteine-rich domains of the corin protein, a type II transmembrane serine protease

cd07888
Location:350 → 471

CRD_corin_2; One of two cysteine-rich domains of the corin protein, a type II transmembrane serine protease

smart00020
Location:697 → 926

Tryp_SPc; Trypsin-like serine protease

smart00202
Location:586 → 682

SR; Scavenger receptor Cys-rich

cd00112
Location:476 → 510

LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

cd00190
Location:698 → 929

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 ...
NM_001278586.2 → NP_001265515.1 atrial natriuretic peptide-converting enzyme isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an in-frame internal exon and multiple 3' terminal exons, and its transcription extends past a splice site that is used in variant 1, resulting in a novel 3' coding region and 3' UTR compared to variant 1. The resulting isoform (3) is shorter; it lacks an internal segment and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AI338960, AK304466

Consensus CDS

CCDS63958.1

UniProtKB/TrEMBL

B4E2W9, J3KR83

Related

ENSP00000423216.1, ENST00000504584.1

Conserved Domains (3) summary

cd07445
Location:135 → 263

CRD_corin_1; One of two cysteine-rich domains of the corin protein, a type II transmembrane serine protease

cd07888
Location:417 → 538

CRD_corin_2; One of two cysteine-rich domains of the corin protein, a type II transmembrane serine protease

cd00112
Location:543 → 577

LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
NM_006587.4 → NP_006578.2 atrial natriuretic peptide-converting enzyme isoform 1

See identical proteins and their annotated locations for NP_006578.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AC092597, AF133845, AI378383, AK304466

Consensus CDS

CCDS3477.1

UniProtKB/Swiss-Prot

B0ZBE3, Q2TBD2, Q4W5E5, Q4W5G6, Q9UHY2, Q9Y5Q5

UniProtKB/TrEMBL

J3KR90

Related

ENSP00000273857.4, ENST00000273857.9

Conserved Domains (7) summary

cd07445
Location:135 → 263

CRD_corin_1; One of two cysteine-rich domains of the corin protein, a type II transmembrane serine protease

cd07888
Location:454 → 575

CRD_corin_2; One of two cysteine-rich domains of the corin protein, a type II transmembrane serine protease

smart00020
Location:801 → 1030

Tryp_SPc; Trypsin-like serine protease

smart00202
Location:690 → 786

SR; Scavenger receptor Cys-rich

cd00112
Location:580 → 614

LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

cd00190
Location:802 → 1033

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 ...

pfam00057
Location:347 → 377

Ldl_recept_a; Low-density lipoprotein receptor domain class A