CRELD1

From Wikipedia, the free encyclopedia


Cysteine-rich with EGF-like domains 1
Identifiers
Symbol(s) CRELD1; AVSD2; CIRRIN; DKFZP566D213
External IDs OMIM: 607170 MGI: 2152539 HomoloGene: 32265
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 78987 171508
Ensembl ENSG00000163703 ENSMUSG00000030284
Uniprot Q96HD1 Q91XD7
Refseq NM_001031717 (mRNA)
NP_001026887 (protein)		 NM_133930 (mRNA)
NP_598691 (protein)
Location Chr 3: 9.95 - 9.96 Mb Chr 6: 113.45 - 113.46 Mb
Pubmed search [1] [2]

Cysteine-rich with EGF-like domains 1, also known as CRELD1, is a human gene.[1]

Epidermal growth factor (EGF; MIM 131530)-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.[supplied by OMIM][1]

[edit] References

  1. ^ a b Entrez Gene: CRELD1 cysteine-rich with EGF-like domains 1.

[edit] Further reading

  • Green EK, Priestley MD, Waters J, et al. (2000). "Detailed mapping of a congenital heart disease gene in chromosome 3p25.". J. Med. Genet. 37 (8): 581–7. PMID 10922384. 
  • Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination.". Genome Res. 10 (11): 1788–95. PMID 11076863. 
  • Wiemann S, Weil B, Wellenreuther R, et al. (2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.". Genome Res. 11 (3): 422–35. doi:10.1101/gr.154701. PMID 11230166. 
  • Rupp PA, Fouad GT, Egelston CA, et al. (2002). "Identification, genomic organization and mRNA expression of CRELD1, the founding member of a unique family of matricellular proteins.". Gene 293 (1-2): 47–57. PMID 12137942. 
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932. 
  • Robinson SW, Morris CD, Goldmuntz E, et al. (2003). "Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects.". Am. J. Hum. Genet. 72 (4): 1047–52. PMID 12632326. 
  • Clark HF, Gurney AL, Abaya E, et al. (2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMID 12975309. 
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334. 
  • Wiemann S, Arlt D, Huber W, et al. (2004). "From ORFeome to biology: a functional genomics pipeline.". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMID 15489336. 
  • Zatyka M, Priestley M, Ladusans EJ, et al. (2005). "Analysis of CRELD1 as a candidate 3p25 atrioventicular septal defect locus (AVSD2).". Clin. Genet. 67 (6): 526–8. doi:10.1111/j.1399-0004.2005.00435.x. PMID 15857420. 
  • Stelzl U, Worm U, Lalowski M, et al. (2005). "A human protein-protein interaction network: a resource for annotating the proteome.". Cell 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. PMID 16169070. 
  • Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMID 16344560. 
  • Mehrle A, Rosenfelder H, Schupp I, et al. (2006). "The LIFEdb database in 2006.". Nucleic Acids Res. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMID 16381901. 
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