Human Gene CRELD1 (ENST00000383811.8) from GENCODE V43
Description: Homo sapiens cysteine rich with EGF like domains 1 (CRELD1), transcript variant 2, mRNA. (from RefSeq NM_015513) RefSeq Summary (NM_015513): 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]. Gencode Transcript: ENST00000383811.8 Gencode Gene: ENSG00000163703.20 Transcript (Including UTRs) Position: hg38 chr3:9,933,834-9,945,406 Size: 11,573 Total Exon Count: 10 Strand: + Coding Region Position: hg38 chr3:9,934,439-9,944,579 Size: 10,141 Coding Exon Count: 10
ID:CREL1_HUMAN DESCRIPTION: RecName: Full=Cysteine-rich with EGF-like domain protein 1; Flags: Precursor; SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential). 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. DISEASE: Defects in CRELD1 may be the cause of susceptibility to atrioventricular septal defect type 2 (AVSD2) [MIM:606217]. 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. SIMILARITY: Belongs to the CRELD family. SIMILARITY: Contains 2 EGF-like domains. SIMILARITY: Contains 2 FU (furin-like) repeats. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CRELD1";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q96HD1
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.