CRELD1 - cysteine rich with EGF like domains 1 Gene

Also Known as AVSD2; CIRRIN

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 78987

About CRELD1

Cytogenetic location: 3p25.3 Genomic coordinates (GRCh38): 3:9,933,834-9,945,406 (from NCBI)

This gene has 74 transcripts (splice variants), 196 orthologues, 8 paralogues and is associated with 5 phenotypes. Ubiquitous expression in thyroid (RPKM 17.8), heart (RPKM 15.1) and 25 other tissues.

Summary

This gene encodes a member of a subfamily of epidermal growth factor-related proteins. The encoded protein is characterized by a cysteine-rich with epidermal growth factor-like domain. This protein may function as a cell adhesion molecule. Mutations in this gene are the cause of atrioventricular septal defect. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]

CRELD1 Products (9)

mRNA	Protein	Name
NM_001031717.4	NP_001026887.2	protein disulfide isomerase CRELD1 isoform 1 precursor
NM_001077415.3	NP_001070883.2	protein disulfide isomerase CRELD1 isoform 2 precursor
NM_001374316.1	NP_001361245.1	protein disulfide isomerase CRELD1 isoform 2 precursor
NM_001374317.1	NP_001361246.1	protein disulfide isomerase CRELD1 isoform 3 precursor
NM_001374318.1	NP_001361247.1	protein disulfide isomerase CRELD1 isoform 3 precursor
NM_001374319.1	NP_001361248.1	protein disulfide isomerase CRELD1 isoform 4 precursor
NM_001374320.1	NP_001361249.1	protein disulfide isomerase CRELD1 isoform 4 precursor
NM_001410713.1	NP_001397642.1	protein disulfide isomerase CRELD1 isoform 5 precursor
NM_015513.6	NP_056328.3	protein disulfide isomerase CRELD1 isoform 2 precursor

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Références	Source
enables protein binding	IPI IPI: Inferred from physical interaction	20508391	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CRELD1 Protein Structure

DUF3456

EGF_CA

0
100
200
300
400
420 a.a.

Protein Preferred Names	Protein Names
protein disulfide isomerase CRELD1

CRELD1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	CRELD1	Q96HD1	ADRA1A	Homo sapiens	P35348-1	Y2H	20508391

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant CRELD1 Proteins

Cat. No.	Nom du produit	Accession	Pureté
HY-P76285	CRELD1 Protein, Human (HEK293, His)	Q96HD1-1 (Q30-E362)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Atrioventricular Septal Defect 2	Atrioventricular Septal Defect, Partial, With Heterotaxy Syndrome Atrioventricular Septal Defect, Susceptibility To, 2 AVSD2 Septal Defect, Atrioventricular, Type 2
Partial Atrioventricular Septal Defect Without Ventricular Hypoplasia	Balanced Partial Atrioventricular Canal Pavc Without Ventricular Hypoplasia Partial Avsd Without Ventricular Hypoplasia Partial Atrioventricular Canal Defect Without Ventricular Hypoplasia Partial Atrioventricular Septal Defect With Balanced Ventricles
Atrioventricular Septal Defect	AVSD Atrioventricular Canal Defect Avcd Endocardial Cushion Defect Ecd Avc Defect Atrioventricular Septal Defect, Susceptibility To, 1 Atrioventricular Septal Defect 1 Endocardial Cushion Defects Septal Defect, Atrioventricular Atrioventricular Defect With Atrial Shunting Only Incomplete Atrioventricular Septal Defect With Isolated Atrial Component Incomplete Atrioventricular Canal Defect With Isolated Atrial Component Primum Atrial Septal Defect Partial Atrioventricular Canal Defect With Isolated Atrial Component Partial Atrioventricular Septal Defect, Ostium Primum Type Ostium Primum Atrial Septal Defect Partial Atrioventricular Canal Defect Partial Atrioventricular Septal Defect Atrial Septum Primum Defect Atrioventricular Canal Defect With Isolated Ventricular Component Atrioventricular Canal Defect With Isolated Ventricular Communication Atrioventricular Septal Defect With Isolated Ventricular Component Atrioventricular Septal Defect With Atrial Shunting And Restrictive Ventricular Shunting Intermediate Atrioventricular Canal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valve Transitional Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valves Atrioventricular Canal Defect Associated With A Restrictive Ventricular Septal Defect Intermediate Atrioventricular Canal Defect Intermediate Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valvar Orifices Intermediate Atrioventricular Septal Defect Transitional Atrioventricular Canal Defect Transitional Atrioventricular Septal Defect Complete Atrioventricular Canal With Atrial And Ventricular Components Complete Atrioventricular Canal Defect Complete Atrioventricular Septal Defect
Congenital Heart Defects, Multiple Types, 4	CHTD4 Complete Atrioventricular Septal Defect-Tetralogy Of Fallot Cavc-Tetralogy Of Fallot Complete Avsd-Tetralogy Of Fallot Complete Atrioventricular Canal Defect-Tetralogy Of Fallot Complete Atrioventricular Septal Defect With Ventricular Hypoplasia Cavc With Ventricular Hypoplasia Complete Avsd With Ventricular Hypoplasia Complete Atrioventricular Canal Defect With Ventricular Hypoplasia Complete Atrioventricular Septal Defect With Ventricular Imbalance Unbalanced Complete Atrioventricular Canal Heart Defects, Congenital, Multiple Types, Type 4
Atrial Septal Defect 8	ASD8 Atrial Heart Septal Defect 8 Septal Defect, Atrial, Type 8
Joubert Syndrome 18	JBTS18 Joubert Syndrome, Type 18
Intellectual Developmental Disorder, Autosomal Dominant 23	MRD23 Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency Mental Retardation, Autosomal Dominant 23 Autosomal Dominant Non-Syndromic Intellectual Disability 23 Autosomal Dominant Intellectual Developmental Disorder 23 Autosomal Dominant Mental Retardation 23 Mental Retardation, Autosomal Dominant, Type 23
Heart Septal Defect	Septal Defect Heart Septal Defects Cardiac Septal Defects Congenital Septal Defect Of Heart
Chromosome 3pter-P25 Deletion Syndrome	3p- Syndrome 3p Deletion Syndrome Distal Monosomy 3p Chromosome 3, Monosomy 3p 3p Partial Monosomy Syndrome Chromosome 3, Deletion 3p Chromosome 3p Deletion Syndrome Del Syndrome Deletion 3p Monosomy 3p Partial Monosomy 3p Distal 3p Deletion Monosomy 3pter Telomeric Monosomy 3p Chromosome Deletion Syndrome 3pter-P25
Char Syndrome	Patent Ductus Arteriosus With Facial Dysmorphism And Abnormal Fifth Digits CHAR
Heart Disease	Heart Failure Congenital Heart Disease Heart Diseases Congenital Heart Defects Congenital Heart Defect Heart Malformation Congenital Anomaly Of Heart Heart Defect Heart-Congenital Defect Congenital Heart Disorder Heart Defects Congenital Heart Defects, Congenital Heart Defects Heart Disease, Congenital Disease, Heart, Congenital Congestive Heart Failure
Down Syndrome	Trisomy 21 Complete Trisomy 21 Syndrome Down'S Syndrome Trisomy 21 Syndrome Down'S Syndrome - Trisomy 21 Downs Syndrome G Trisomy 47,Xx,+21 47,Xy,+21 Trisomy G Down Syndrome, Susceptibility To Chromosome 21 Trisomy Trisomy 21 Nos Abnormal Autosomes 21
Patent Ductus Arteriosus 1	Patent Ductus Arteriosus PDA1 Pda Ductus Arteriosus, Patent Patent Ductus Arteriosus, Susceptibility To Patent Ductus Botalli Patency Of The Ductus Arteriosus Patent Ductus Arteriosus Familial Ductus Arteriosus Patent Patent Ductus Arteriosus - Persisting Type
Transposition Of The Great Arteries, Dextro-Looped	Transposition Of The Great Arteries DTGA1 Dextro-Looped Transposition Of The Great Arteries DTGA Congenitally Uncorrected Transposition Of The Great Arteries Congenitally Uncorrected Transposition Of The Great Vessels D-Tga Isolated Ventriculoarterial Discordance Ventriculoarterial Discordance With Atrioventricular Concordance Dextro-Transposition Of The Great Arteries Transposition Of The Great Vessels Great Vessels Transposition Transposition Of The Great Arteries, Dextro-Looped 1 Arteries, Great, Transposition, Dextro-Looped Ventriculoarterial Discordance, Isolated D-Transposition Of The Great Arteries Complete Transposition Tga Tgv Transposition Of Great Vessels Transposition Of The Great Arteries Dextro-Looped 1 Dextro-Looped Transposition Of The Great Arteries 1 Discordant Ventriculoarterial Connection Complete Transposition Of Great Vessels Great Vessels Complete Transposition Total Great Vessel Transposition Transposition Of Great Arteries Complete Tga - [Transposition Of The Great Arteries] Tga - [Transposition Of Great Arteries] Tgv - [Transposition Of Great Vessels] Transposition Of Great Vessels Nos Transposed Vessels Nos
Total Anomalous Pulmonary Venous Return 1	Scimitar Syndrome Total Anomalous Pulmonary Venous Return Anomalous Pulmonary Venous Return Scimitar Anomaly TAPVR1 Apvr Halasz Syndrome Hypogenetic Lung Syndrome Pulmonary Venolobar Syndrome TAPVR Congenital Total Pulmonary Venous Return Anomaly Congenital Venolobar Syndrome Mirror-Image Lung Syndrome Vena Cava Bronchovascular Syndrome Pulmonary Venous Return Anomaly Congenital Pulmonary Venolobar Syndrome Epibronchial Right Pulmonary Vein Syndrome
Renpenning Syndrome 1	Renpenning Syndrome Golabi-Ito-Hall Syndrome Mrxs3 Mrxs8 X-Linked Intellectual Disability Due To Pqbp1 Mutations RENS1 Sutherland-Haan X-Linked Mental Retardation Syndrome Shs Mrx55 X-Linked Intellectual Disability, Renpenning Type Sutherland-Haan Syndrome Mental Retardation, X-Linked, Renpenning Type Mental Retardation, X-Linked, With Spastic Diplegia Mental Retardation, X-Linked, Syndromic 3 Mental Retardation, X-Linked, Syndromic 8 Mental Retardation, X-Linked 55 Syndromic X-Linked Mental Retardation 8 X-Linked Mental Retardation Renpenning Type X-Linked Mental Retardation With Spastic Diplegia Sutherland-Haan X-Linked Intellectual Disability Syndrome X-Linked Intellectual Disability With Spastic Diplegia Hamel Cerebropalatocardiac Syndrome Porteous Syndrome X-Linked Intellectual Deficit Due To Pqbp1 Mutations X-Linked Intellectual Deficit, Renpenning Type X-Linked Intellectual Disability, Sutherland-Haan Type Hamel Cerebro-Palato-Cardiac Syndrome Renpenning Syndrome, Type 1
Atrial Septal Defect 5	ASD5 Atrial Heart Septal Defect 5 Septal Defect, Atrial, Type 5
Atrial Heart Septal Defect	Atrial Septal Defect Atrial Septal Defects Atrioseptal Defect Auricular Septal Defect Congenital Atrial Septal Defect Interatrial Septal Defect Interauricular Septal Defect Heart Septal Defects, Atrial Septal Defect, Atrial
Chromosomal Duplication Syndrome
Ventricular Septal Defect	Ventricular Septal Defects Interventricular Septal Defect Heart Septal Defects, Ventricular Ventricular Septal Abnormality Interventricular Septum Defect Ventricular Septum Defect Vsd - [Ventricular Septum Defect] Congenital Ventricular Septal Defect Single Ventricular Septal Defect
Double Outlet Right Ventricle	Double Outlet Right Ventricle With Subpulmonary Ventricular Septal Defect Taussig-Bing Syndrome Dextrotransposition Of Aorta Taussig-Bing Syndrome Or Defect Dorv Dorv With Subpulmonary Vsd Dorv-Tga Double Outlet Right Ventricle With Transposition Of The Great Arteries Double Outlet Right Ventricle With Subpulmonary Interventricular Communication, Transposition Type Taussig-Bing Heart Taussig-Bing Malformation Taussig-Bing Complex Taussig-Bing Defect Taussig-Bing Double Outlet Right Ventricle With Remote Ventricular Septal Defect Double Outlet Right Ventricle With Uncommitted Ventricular Septal Defect Double Outlet Right Ventricle With Non-Committed Interventricular Communication Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication Without Pulmonary Stenosis Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication And Pulmonary Stenosis
Hypoplastic Left Heart Syndrome	Hlhs Heart, Hypoplastic Left, Syndrome Hypoplasia Of The Left Heart Left Heart Hypoplasia Syndrome Hlhs - [Hypoplastic Left Heart Syndrome] Hypoplasia Of Aortic Valve, In Hypoplastic Left Heart Syndrome Atresia Of Mitral Valve, In Hypoplastic Left Heart Syndrome Atresia Or Marked Hypoplasia Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle Atresia Or Marked Hypoplasia, Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle With Mitral Valve Atresia Aortic Valve Atresia, In Hypoplastic Left Heart Syndrome Ascending Aorta Hypoplasia, In Hypoplastic Left Heart Syndrome
Tetralogy Of Fallot	TOF Fallot Tetralogy Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle Tetrad Of Fallot Fallot Tetrad Fallot Disease Fallot Complex Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle Interventricular Septal Defect, In Tetralogy Of Fallot Ventricular Septal Defect With Obstructed Right Ventricular Outflow Tof - [Tetralogy Of Fallot] Pulmonary Atresia With Ventricular Septal Defect [Fallot Type] Pulmonary Atresia, Ventricular Septal Defect And Mapcas Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]
Chromosome 1p36 Deletion Syndrome	1p36 Deletion Syndrome Deletion 1p36 Monosomy 1p36 Subtelomeric 1p36 Deletion Monosomy 1p36 Syndrome Distal Monosomy 1p36 Del(1)(P36) Deletion 1pter Monosomy 1pter
Left Ventricular Noncompaction	Noncompaction Cardiomyopathy Left Ventricular Hypertrabeculation Lvnc Spongy Myocardium Isolated Noncompaction Of The Ventricular Myocardium Left Ventricular Myocardial Noncompaction Cardiomyopathy Fetal Myocardium Honeycomb Myocardium Hypertrabeculation Syndrome Left Ventricular Non-Compaction Lvht Non-Compaction Of The Left Ventricular Myocardium Ventricular Noncompaction, Left Non-Compaction Cardiomyopathy
Rasopathy	Ras/Mitogen-Activated Protein Kinase Syndrome
Chromosome 22q11.2 Deletion Syndrome, Distal	22q11.2 Deletion Syndrome Autosomal Dominant Opitz G/Bbb Syndrome Catch22 Cayler Cardiofacial Syndrome Conotruncal Anomaly Face Syndrome Digeorge Syndrome Sedlackova Syndrome Shprintzen Syndrome Velocardiofacial Syndrome 22q11.2 Distal Deletion Syndrome Distal 22q11.2 Microdeletion Syndrome 22q11.2ds Vcfs Velo-Cardio-Facial Syndrome Distal Chromosome 22q11.2 Deletion Syndrome Chromosome 22q11.2 Deletion Syndrome Distal Chromosome 22q11.2 Deletion Syndrome Deletion 22q11.2 Syndrome 22q11ds Catch 22 Digeorge Sequence Microdeletion 22q11.2 Monosomy 22q11 Takao Syndrome Distal Del(22)(Q11.2) Distal Monosomy 22q11.2 Catch 22 Syndrome Chromosome Deletion Syndrome 22q11.2, Distal
Williams-Beuren Syndrome	Williams Syndrome WBS Wms Deletion 7q11.23 Monosomy 7q11.23 Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb Fanconi Schlesinger Syndrome Beuren Syndrome Elfin Facies Syndrome Elfin Facies With Hypercalcemia Hypercalcemia-Supravalvar Aortic Stenosis Ws
Noonan Syndrome 1	Noonan Syndrome NS1 Male Turner Syndrome Female Pseudo-Turner Syndrome Turner Phenotype With Normal Karyotype Noonan Syndrome With Pigmented Villonodular Synovitis Turner'S Phenotype, Karyotype Normal Familial Turner Syndrome Noonan'S Syndrome Noonan-Ehmke Syndrome Ns Pseudo-Ullrich-Turner Syndrome Turner Syndrome In Female With X Chromosome Turner-Like Syndrome Ullrich-Noonan Syndrome Noonan-Like/Multiple Giant Cell Lesion Syndrome Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions Pterygium Colli Syndrome Noonan Syndrome, Type 1 Turner Syndrome, Male
Primary Ciliary Dyskinesia	Immotile Cilia Syndrome Kartagener Syndrome Dextrocardia Bronchiectasis And Sinusitis Pcd Ciliary Motility Disorders Ciliary Motility Disorder Immotile Ciliary Syndrome Ciliary Dyskinesia Primary Ics Polynesian Bronchiectasis Dextrocardia-Bronchiectasis-Sinusitis Syndrome Immotile Cilia Syndrome, Kartagener Type Primary Ciliary Dyskinesia And Situs Inversus Primary Ciliary Dyskinesia, Kartagener Type Siewert Syndrome Dyskinesia, Ciliary, Primary

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS03163	CRELD1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18561	Creld1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25043	Creld1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	CRELD1	MGD	MGI:2152539
Bos taurus	CRELD1	VGNC	VGNC:27704
Macaca mulatta	CRELD1	VGNC	VGNC:71407
Rattus norvegicus	CRELD1	RGD	RGD:1309412
Canis familiaris	CRELD1	VGNC	VGNC:39607
Felis catus	CRELD1	VGNC	VGNC:61175
Others	CRELD1	NCBI