• Gene id: 78987

Gene Summary

• Gene Symbol: CRELD1   Gene   UCSC   Ensembl
• Aliases: AVSD2, CIRRIN
• Gene name: cysteine rich with EGF like domains 1
• Alternate names: protein disulfide isomerase CRELD1,
• Gene location: 3p25.3 (9933787: 9945405)     Exons: 11     NC_000003.12
• Gene summary(Entrez): 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
• OMIM: 607170

Protein Summary

• Protein general information: Q96HD1  
  • Name: Protein disulfide isomerase CRELD1 (EC 5.3.4.1) (Cysteine rich with EGF like domain protein 1)
  • Length: 420  
  • Mass: 45440
  • 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
• Sequence:

  MAPWPPKGLVPAMLWGLSLFLNLPGPIWLQPSPPPQSSPPPQPHPCHTCRGLVDSFNKGLERTIRDNFGGGNTAW
  EEENLSKYKDSETRLVEVLEGVCSKSDFECHRLLELSEELVESWWFHKQQEAPDLFQWLCSDSLKLCCPAGTFGP
  SCLPCPGGTERPCGGYGQCEGEGTRGGSGHCDCQAGYGGEACGQCGLGYFEAERNASHLVCSACFGPCARCSGPE
  ESNCLQCKKGWALHHLKCVDIDECGTEGANCGADQFCVNTEGSYECRDCAKACLGCMGAGPGRCKKCSPGYQQVG
  SKCLDVDECETEVCPGENKQCENTEGGYRCICAEGYKQMEGICVKEQIPESAGFFSEMTEDELVVLQQMFFGIII
  CALATLAAKGDLVFTAIFIGAVAAMTGYWLSERSDRVLEGFIKGR

• Structural information:
  • Protein Domains: (153..19-)
    (/note="EGF-like-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (305..34-)
    (/note="EGF-like-)
    (-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076"-)
  • Interpro: IPR021852  IPR001881  IPR013032  IPR000742  IPR000152   IPR018097  IPR006212  IPR009030  IPR002049  
  • Prosite: PS00010 PS00022 PS01186 PS50026 PS01187
  • CDD: cd00064
• Other Databases: GeneCards:  CRELD1  Malacards:  CRELD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005509	calcium ion binding	IEA	molecular function
GO:0016853	isomerase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0003756	protein disulfide isomerase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0003197	endocardial cushion development	TAS	biological process
GO:0003279	cardiac septum development	TAS	biological process
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Atrioventricular septal defect	KEGG:H00547
Atrioventricular septal defect	KEGG:H00547
Heart septal defect	PMID:12632326
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)