SMARCAD1

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]

SMARCAD1
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
Gene location (Human) Chr. Chromosome 4 (human)[1] Band 4q22.3 Start 94,207,611 bp[1] End 94,291,292 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6 C1|6 30.11 cM Start 65,042,583 bp[2] End 65,116,061 bp[2]
Gene ontology Molecular function • DNA binding • nucleotide binding • GO:0008026 helicase activity • GO:0001948 protein binding • nucleic acid binding • hydrolase activity • ATP binding • chromatin binding • DNA-dependent ATPase activity Cellular component • site of double-strand break • nuclear matrix • nuclear replication fork • nucleoplasm • chromosome • heterochromatin • cell nucleus Biological process • regulation of DNA recombination • histone H3 deacetylation • chromatin remodeling • DNA double-strand break processing • nucleotide metabolic process • cellular response to DNA damage stimulus • ATP-dependent chromatin remodeling • positive regulation of transcription, DNA-templated • chromosome separation • histone H4 deacetylation • protein homooligomerization • DNA repair • chromatin organization Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	56916	13990
Ensembl	ENSG00000163104	ENSMUSG00000029920
UniProt	Q9H4L7	Q04692
RefSeq (mRNA)	NM_001128429 NM_001128430 NM_001254949 NM_020159	NM_001253392 NM_007958 NM_001355248 NM_001355249 NM_001355250
RefSeq (protein)	NP_001121901 NP_001121902 NP_001241878 NP_064544 NP_001362784 NP_001362785 NP_001362786 NP_001362787 NP_001362788	NP_001240321 NP_031984 NP_001342177 NP_001342178 NP_001342179
Location (UCSC)	Chr 4: 94.21 – 94.29 Mb	Chr 6: 65.04 – 65.12 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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

1. GRCh38: Ensembl release 89: ENSG00000163104 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000029920 - 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. 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.
6. "Entrez Gene: SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1".
7. "The Mystery of the Missing Fingerprints".

Further reading

• 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.
• 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. 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. 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.