CRELD1

CRELD1 is a transmembrane glycoprotein. Epidermal growth factor(EGF)­like domain exists in CRELD1. EGF-like repeats are a class of cysteine-rich domains that mediate interactions between proteins of diverse function. EGF domains are found in proteins that are either completely secreted or have transmembrane regions that tether the protein to the cell surface. CRELD1 contains a 333 amino acid acid (aa) extracellular domain (ECD), two tandem transmembrane segments, and a second ECD of 15 aa. Defects in CRELD1 may cause susceptibility to atrioventricular septal defect type 2 which results in a persistent common atrioventricular canal.

CRELD1 Alternative Names

UNQ188/PRO214, AVSD2, CIRRIN, cysteine-rich with EGF-like domain protein 1 [Homo sapiens]

AI843811, cysteine-rich with EGF-like domain protein 1, i11E7 protein [Mus musculus]

Summaries for CRELD1

Entrez Gene summary for CRELD1:

CRELD1 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 CRELD1 gene are the cause of atrioventricular septal defect. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]

OMIM - description for CRELD1:

Epidermal growth factor (EGF)-like repeats are a class of cysteine-rich domains that mediate interactions between proteins of diverse function. EGF domains are found in proteins that are either completely secreted or have transmembrane regions that tether the protein to the cell surface. CRELD1 is the founding member of a family of matricellular proteins.

Wikipedia summary for CRELD1:

Cysteine-rich with EGF-like domain protein 1 is a protein that in humans is encoded by the CRELD1 gene.

Human CRELD1 Protein General Information

 

• Protein names: Cysteine-rich with EGF-like domain protein 1
  Short name=CRELD1
• Sequence length: 420 AA.
• Domain: EGF-like domain
  Repeat
  Signal
  Transmembrane
  Transmembrane helix
• Sequence similarities: Belongs to the CRELD family.
  Contains 2 EGF-like domains.
  Contains 2 FU (furin-like) repeats.
• Subcellular location: Membrane; Multi-pass membrane protein
• 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.
• Involvement in disease: Defects in CRELD1 may be the cause of susceptibility to atrioventricular septal defect type 2 (AVSD2) . AVSD is a spectrum of cardiac malformations that result in a persistent common atrioventricular canal. The complete form of AVSD involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum. A less severe form, known as partial AVSD or ostium primum atrial septal defect has a deficiency of the atrial septum. Complete AVSD are clinically apparent at birth, whereas less severe forms, such as an isolated cleft mitral valve or small defects of the atrial or ventricular septa may go undetected.

General information above from UniProt

Function for CRELD1 Protein

Genatlas:

• CRELD1 plays a role in valvuloseptal morphogenesis

Homology for human CRELD1

• ortholog to murine Creld1

Phenotype Information for CRELD1

• Gene/Locus: CRELD1, AVSD2
• Phenotype: Atrioventricular septal defect, partial, with heterotaxy syndrome
  {Atrioventricular septal defect, susceptibility to, 2}

Phenotype Information for CRELD1 from OMIM (Online Mendelian Inheritance in Man)