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SMARCAD1
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| SMARCAD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | SMARCAD1, ADERM, ETL1, HEL1, SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1, BASNS, HRZ | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 612761; MGI: 95453; HomoloGene: 5301; GeneCards: SMARCAD1; OMA:SMARCAD1 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 is a protein that in humans is encoded by the SMARCAD1 gene.[5][6]
Proper expression of SMARCAD1 may be important to fingerprint development,[7] and the disruption of its expression is believed to cause adermatoglyphia, the absence of fingerprints.
References
[edit]- ^ a b c GRCh38: Ensembl release 89: ENSG00000163104 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000029920 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Adra CN, Donato JL, Badovinac R, Syed F, Kheraj R, Cai H, Moran C, Kolker MT, Turner H, Weremowicz S, Shirakawa T, Morton CC, Schnipper LE, Drews R (Jan 2001). "SMARCAD1, a novel human helicase family-defining member associated with genetic instability: cloning, expression, and mapping to 4q22-q23, a band rich in breakpoints and deletion mutants involved in several human diseases". Genomics. 69 (2): 162–73. doi:10.1006/geno.2000.6281. PMID 11031099.
- ^ "Entrez Gene: SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1".
- ^ "The Mystery of the Missing Fingerprints".
Further reading
[edit]- Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.
- 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.
- Beausoleil SA, Jedrychowski M, Schwartz D, et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. Bibcode:2004PNAS..10112130B. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- 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.
- Hirosawa M, Nagase T, Ishikawa K, et al. (2000). "Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain". DNA Res. 6 (5): 329–36. doi:10.1093/dnares/6.5.329. PMID 10574461.
- Soininen R, Schoor M, Henseling U, et al. (1993). "The mouse Enhancer trap locus 1 (Etl-1): a novel mammalian gene related to Drosophila and yeast transcriptional regulator genes". Mech. Dev. 39 (1–2): 111–23. doi:10.1016/0925-4773(92)90030-N. PMID 1489724. S2CID 20053879.
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