InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CRELD1

Summary

InnateDB Protein

IDBP-17271.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CRELD1

Protein Name

cysteine-rich with EGF-like domains 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000321856

InnateDB Gene

IDBG-17267 (CRELD1)

Protein Structure

UniProt Annotation

Function

Subcellular Localization

Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.

Disease Associations

Atrioventricular septal defect 2 (AVSD2) [MIM:606217]: A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction. {ECO:0000269PubMed:12632326, ECO:0000269PubMed:15857420}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

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:0000269PubMed:12137942}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.

Experimentally validated
Total	10 [view]
Protein-Protein	10 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005509	calcium ion binding
GO:0005515	protein binding

Biological Process

GO:0003197	endocardial cushion development
GO:0003279	cardiac septum development

Cellular Component

GO:0016021

integral component of membrane

Protein Structure and Domains

PDB ID

InterPro

IPR000742 Epidermal growth factor-like domain
IPR001881 EGF-like calcium-binding domain
IPR006212 Furin-like repeat
IPR009030 Insulin-like growth factor binding protein, N-terminal
IPR021852 Domain of unknown function DUF3456

PFAM

PF00008
PF07645
PF11938

PRINTS

PIRSF

SMART

SM00181
SM00179
SM00261

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q96HD1