CRELD1

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 113,460,258 bp [2] End 113,470,304 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in pituitary gland right lobe of thyroid gland anterior pituitary right uterine tube left lobe of thyroid gland Brodmann area 9 superior frontal gyrus left ventricle hypothalamus nucleus accumbens Top expressed in olfactory tubercle superior frontal gyrus superior colliculus triceps brachii muscle subiculum piriform cortex dorsal tegmental nucleus sternocleidomastoid muscle medial dorsal nucleus hypothalamus More reference expression data BioGPS 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: 113.46 – 113.47 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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. Bibcode:2002PNAS...9916899M. 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. S2CID   31199574.
• 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. S2CID   8235923.
• 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.