CRELD1

Cysteine-rich with EGF-like domain protein 1 is a protein that in humans is encoded by the CRELD1 gene.[5][6][7]

CRELD1
Identifiers
Aliases	CRELD1, AVSD2, CIRRIN, cysteine rich with EGF like domains 1
External IDs	OMIM: 607170 MGI: 2152539 HomoloGene: 32265 GeneCards: CRELD1
Gene location (Human) Chr. Chromosome 3 (human)[1] Band 3p25.3 Start 9,933,822 bp[1] End 9,945,413 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6 E3|6 52.77 cM Start 113,483,297 bp[2] End 113,493,343 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • calcium ion binding • extracellular matrix structural constituent Cellular component • membrane • integral component of membrane • collagen-containing extracellular matrix Biological process • endocardial cushion development • cardiac septum development Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	78987	171508
Ensembl	ENSG00000163703	ENSMUSG00000030284
UniProt	Q96HD1	Q91XD7
RefSeq (mRNA)	NM_001031717 NM_001077415 NM_015513	NM_133930
RefSeq (protein)	NP_001026887 NP_001070883 NP_056328 NP_001361245 NP_001361246 NP_001361247 NP_001361248 NP_001361249	NP_598691
Location (UCSC)	Chr 3: 9.93 – 9.95 Mb	Chr 6: 113.48 – 113.49 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Function

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.[7]

References

1. GRCh38: Ensembl release 89: ENSG00000163703 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000030284 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Green EK, Priestley MD, Waters J, Maliszewska C, Latif F, Maher ER (Sep 2000). "Detailed mapping of a congenital heart disease gene in chromosome 3p25". J Med Genet. 37 (8): 581–7. doi:10.1136/jmg.37.8.581. PMC 1734659. PMID 10922384.
6. Rupp PA, Fouad GT, Egelston CA, Reifsteck CA, Olson SB, Knosp WM, Glanville RW, Thornburg KL, Robinson SW, Maslen CL (Jul 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. doi:10.1016/S0378-1119(02)00696-0. PMID 12137942.
7. "Entrez Gene: CRELD1 cysteine-rich with EGF-like domains 1".

External links

• Human CRELD1 genome location and CRELD1 gene details page in the UCSC Genome Browser.

Further reading

• Hartley JL, Temple GF, Brasch MA (2001). "DNA Cloning Using In Vitro Site-Specific Recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. 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.GR1547R. PMC 311072. PMID 11230166.
• 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. PMC 139241. 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. doi:10.1086/374319. PMC 1180336. 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. PMC 403697. 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. PMC 528928. 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. PMC 528930. 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. hdl:11858/00-001M-0000-0010-8592-0. 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. PMC 1356129. 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. PMC 1347501. PMID 16381901.