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; OMA:SMARCAD1 - orthologs
Gene location (Human)
Chr.	Chromosome 4 (human)
End	94,291,292 bp
Gene location (Mouse)
Chr.	Chromosome 6 (mouse)
End	65,093,045 bp
RNA expression pattern
	Top expressed in
	ganglionic eminence; ; tibia; ; secondary oocyte; ; pancreatic epithelial cell; ; ventricular zone; ; Achilles tendon; ; testicle; ; skin of thigh; ; visceral pleura; ; parietal pleura;
	Top expressed in
	genital tubercle; ; morula; ; tail of embryo; ; ganglionic eminence; ; ventricular zone; ; medial ganglionic eminence; ; blastocyst; ; superior cervical ganglion; ; zygote; ; abdominal wall;
	More reference expression data
	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
	56916
	13990
	ENSG00000163104
	ENSMUSG00000029920
	Q9H4L7
	Q04692
	NM_001128429; NM_001128430; NM_001254949; NM_020159
	NM_001253392; NM_007958; NM_001355248; NM_001355249; NM_001355250
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
	Wikidata
View/Edit Human	View/Edit Mouse

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

1 2 3 GRCh38: Ensembl release 89: ENSG00000163104 – Ensembl, May 2017
1 2 3 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".

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.

This article on a gene on human chromosome 4 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000163104 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[pmid11031099-5] 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.

[entrez-6] "Entrez Gene: SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1".

[sciencemag.org-7] "The Mystery of the Missing Fingerprints".

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SMARCAD1

References

Further reading