Human Gene CELSR1 (uc003bhw.1) Description and Page Index
Description: Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (CELSR1), mRNA. RefSeq Summary (NM_014246): The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. This particular member is a developmentally regulated, neural-specific gene which plays an unspecified role in early embryogenesis. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF231024.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chr22:46,756,731-46,933,067 Size: 176,337 Total Exon Count: 35 Strand: - Coding Region Position: hg19 chr22:46,759,075-46,933,067 Size: 173,993 Coding Exon Count: 35
ID:CELR1_HUMAN DESCRIPTION: RecName: Full=Cadherin EGF LAG seven-pass G-type receptor 1; AltName: Full=Cadherin family member 9; AltName: Full=Flamingo homolog 2; Short=hFmi2; Flags: Precursor; FUNCTION: Receptor that may have an important role in cell/cell signaling during nervous system formation. SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. PTM: The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains (By similarity). DISEASE: Defects in CELSR1 are a cause of neural tube defects (NTD) [MIM:182940]. NTD are congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components. SIMILARITY: Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily. SIMILARITY: Contains 9 cadherin domains. SIMILARITY: Contains 8 EGF-like domains. SIMILARITY: Contains 1 GPS domain. SIMILARITY: Contains 1 laminin EGF-like domain. SIMILARITY: Contains 2 laminin G-like domains.
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): CELSR1 CDC HuGE Published Literature: CELSR1 Positive Disease Associations: Lipids
, Stroke Related Studies:
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 Q9NYQ6
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
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.