Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	78987
Gene name	CRELD disulfide isomerase 1
Gene symbol	CRELD1
Synonyms (NCBI Gene)	AVSD2CIRRINJELANS
Chromosome	3
Chromosome location	3p25.3
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 th

Show/Hide all (9)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28941780	G>A	Pathogenic, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs28942091	C>G,T	Likely-benign, risk-factor	Non coding transcript variant, missense variant, coding sequence variant
rs28942092	C>T	Uncertain-significance, risk-factor	Non coding transcript variant, missense variant, coding sequence variant
rs121912626	C>G	Risk-factor	Non coding transcript variant, missense variant, coding sequence variant
rs121912627	G>A	Risk-factor	Non coding transcript variant, missense variant, coding sequence variant, 3 prime UTR variant
rs759473511	A>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553600601	->A	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1575631130	ACAG>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1575650682	TG>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant

Show/Hide all (54)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004230	hsa-miR-346	Microarray	16822819
MIRT029353	hsa-miR-26b-5p	Microarray	19088304
MIRT909472	hsa-miR-1200	CLIP-seq
MIRT909473	hsa-miR-1207-3p	CLIP-seq
MIRT909474	hsa-miR-1207-5p	CLIP-seq
MIRT909475	hsa-miR-1273f	CLIP-seq
MIRT909476	hsa-miR-1301	CLIP-seq
MIRT909477	hsa-miR-143	CLIP-seq
MIRT909478	hsa-miR-3074-5p	CLIP-seq
MIRT909479	hsa-miR-4300	CLIP-seq
MIRT909480	hsa-miR-4324	CLIP-seq
MIRT909481	hsa-miR-4419a	CLIP-seq
MIRT909482	hsa-miR-4459	CLIP-seq
MIRT909483	hsa-miR-4510	CLIP-seq
MIRT909484	hsa-miR-4660	CLIP-seq
MIRT909485	hsa-miR-4679	CLIP-seq
MIRT909486	hsa-miR-4708-5p	CLIP-seq
MIRT909487	hsa-miR-4722-5p	CLIP-seq
MIRT909488	hsa-miR-4736	CLIP-seq
MIRT909489	hsa-miR-4763-3p	CLIP-seq
MIRT909490	hsa-miR-4770	CLIP-seq
MIRT909491	hsa-miR-4779	CLIP-seq
MIRT909492	hsa-miR-5047	CLIP-seq
MIRT909493	hsa-miR-544b	CLIP-seq
MIRT909494	hsa-miR-920	CLIP-seq
MIRT909495	hsa-miR-103a	CLIP-seq
MIRT909496	hsa-miR-107	CLIP-seq
MIRT909473	hsa-miR-1207-3p	CLIP-seq
MIRT909474	hsa-miR-1207-5p	CLIP-seq
MIRT909476	hsa-miR-1301	CLIP-seq
MIRT909484	hsa-miR-4660	CLIP-seq
MIRT909488	hsa-miR-4736	CLIP-seq
MIRT909489	hsa-miR-4763-3p	CLIP-seq
MIRT909492	hsa-miR-5047	CLIP-seq
MIRT909497	hsa-miR-885-3p	CLIP-seq
MIRT2205722	hsa-miR-198	CLIP-seq
MIRT2205723	hsa-miR-214	CLIP-seq
MIRT2205724	hsa-miR-338-3p	CLIP-seq
MIRT2205725	hsa-miR-3616-3p	CLIP-seq
MIRT2205726	hsa-miR-3619-5p	CLIP-seq
MIRT2205727	hsa-miR-4436b-3p	CLIP-seq
MIRT909482	hsa-miR-4459	CLIP-seq
MIRT2205728	hsa-miR-4530	CLIP-seq
MIRT2205729	hsa-miR-4690-3p	CLIP-seq
MIRT909487	hsa-miR-4722-5p	CLIP-seq
MIRT909491	hsa-miR-4779	CLIP-seq
MIRT2205730	hsa-miR-761	CLIP-seq
MIRT2508789	hsa-miR-1197	CLIP-seq
MIRT2508790	hsa-miR-18a	CLIP-seq
MIRT2508791	hsa-miR-18b	CLIP-seq
MIRT2508792	hsa-miR-4320	CLIP-seq
MIRT2508793	hsa-miR-4446-5p	CLIP-seq
MIRT2508794	hsa-miR-4735-3p	CLIP-seq
MIRT2508795	hsa-miR-4755-5p	CLIP-seq

Show/Hide all (11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003197	Process	Endocardial cushion development	TAS	18076106
GO:0003279	Process	Cardiac septum development	TAS	18076106
GO:0003756	Function	Protein disulfide isomerase activity	IEA
GO:0005201	Function	Extracellular matrix structural constituent	RCA	28675934
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	20508391, 32814053
GO:0016020	Component	Membrane	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0031012	Component	Extracellular matrix	HDA	28675934
GO:0045202	Component	Synapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA

MIM	HGNC	e!Ensembl
607170	14630	ENSG00000163703

Q96HD1

Protein name

Protein disulfide isomerase CRELD1 (EC 5.3.4.1) (Cysteine-rich with EGF-like domain protein 1)

Protein function

Protein disulfide isomerase (By similarity). Promotes the localization of acetylcholine receptors (AChRs) to the plasma membrane (By similarity).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF11938	DUF3456	45 → 103	TLR4 regulator and MIR-interacting MSAP	Family
PF07645	EGF_CA	245 → 285	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	305 → 346	Calcium-binding EGF domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in fetal lung, liver, kidney, adult heart, brain and skeletal muscle. Weakly expressed in placenta, fetal brain, and adult lung, liver, kidney and pancreas. {ECO:0000269|PubMed:12137942}.

Sequence

MAPWPPKGLVPAMLWGLSLFLNLPGPIWLQPSPPPQSSPPPQPHPCHTCRGLVDSFNKGL
ERTIRDNFGGGNTAWEEENLSKYKDSETRLVEVLEGVCSKSDFECHRLLELSEELVESWW
FHKQQEAPDLFQWLCSDSLKLCCPAGTFGPSCLPCPGGTERPCGGYGQCEGEGTRGGSGH
CDCQAGYGGEACGQCGLGYFEAERNASHLVCSACFGPCARCSGPEESNCLQCKKGWALHH
LKCVDIDECGTEGANCGADQFCVNTEGSYECRDCAKACLGCMGAGPGRCKKCSPGYQQVG
SKCLDVDECETEVCPGENKQCENTEGGYRCICAEGYKQMEGICVKEQIPESAGFFSEMTE
DELVVLQQMFFGIIICALATLAAKGDLVFTAIFIGAVAAMTGYWLSERSDRVLEGFIKGR

Sequence length

420

Interactions

View interactions

136

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Atrioventricular septal defect, susceptibility to, 2	Pathogenic; Likely pathogenic	rs774018674, rs1575650682, rs1188358849	RCV000543058 RCV000782366 RCV001067508
Congenital heart defects, multiple types, 4	Pathogenic	rs2470480014, rs746951044	RCV003318479 RCV003318481
Ventricular septal defect 1	Pathogenic	rs2470508449, rs760263168	RCV003318480 RCV003318482

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Atrioventricular septal defect, partial, with heterotaxy syndrome	Conflicting classifications of pathogenicity	rs28941780	RCV000003598
CRELD1-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	rs778201596, rs144715692, rs201402996, rs146437600, rs374989836, rs2302787, rs201866563, rs573320219, rs150585098, rs201194201, rs200797264, rs41276501, rs139717648, rs759473511, rs138336691, rs369721468, rs911089166 View all (2 more)	RCV003408048 RCV004738450 RCV003911308 RCV003955073 RCV003961081 RCV003929944 RCV001255985 RCV003938985 RCV003966550 RCV003892319 RCV003942529 RCV003915560 RCV003905736 RCV001255986 RCV004738014 RCV004726999 RCV003399037
Jeffries-Lakhani neurodevelopmental syndrome	Conflicting classifications of pathogenicity; Uncertain significance	rs2124858642, rs201866563, rs753036307, rs759473511	RCV003989129 RCV003989107 RCV003989156 RCV003989115
Malignant tumor of esophagus	Likely benign	rs200797264	RCV005899531
Nonpapillary renal cell carcinoma	Likely benign	rs200797264	RCV005899532
Ovarian serous cystadenocarcinoma	Uncertain significance	rs138336691	RCV005901991
Tetralogy of Fallot	Uncertain significance	rs73118372	RCV000770890
Thymoma	Benign	rs200039792	RCV005926225

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Atrioventricular Septal Defect	Associate	23040494
Autistic Disorder	Associate	37322441
Bicuspid Aortic Valve Disease	Associate	36929416
Double Outlet Right Ventricle	Associate	37322441
Down Syndrome	Associate	23040494
Heart Defects Congenital	Associate	29952356, 36929416
Turner Syndrome	Associate	36929416

CRELD1 (CRELD disulfide isomerase 1)