SMARCAD1

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) Band 4q22.3 Start 94,207,611 bp End 94,291,292 bp
Gene location (Mouse) Chr. Chromosome 6 (mouse) Band 6 C1|6 30.11 cM Start 65,019,567 bp End 65,093,045 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence tibia secondary oocyte pancreatic epithelial cell Achilles tendon visceral pleura parietal pleura right uterine tube germinal epithelium endometrium Top expressed in morula ganglionic eminence medial ganglionic eminence superior cervical ganglion abdominal wall secondary oocyte primitive streak maxillary prominence cumulus cell neural tube More reference expression data BioGPS n/a
Gene ontology Molecular function DNA binding nucleotide binding helicase activity protein binding nucleic acid binding hydrolase activity ATP binding chromatin binding ATP-dependent activity, acting on DNA Cellular component site of double-strand break nuclear matrix nuclear replication fork nucleoplasm chromosome heterochromatin 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 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: 65.02 – 65.09 Mb PubMed search
Wikidata
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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.

Proper expression of SMARCAD1 may be important to fingerprint development, and the disruption of its expression is believed to cause adermatoglyphia, the absence of 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. 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.