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)
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; ; 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
	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

Last updated March 04, 2023

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.

Related Research Articles

In molecular biology, SWI/SNF, is a subfamily of ATP-dependent chromatin remodeling complexes, which is found in eukaryotes. In other words, it is a group of proteins that associate to remodel the way DNA is packaged. This complex is composed of several proteins – products of the SWI and SNF genes, as well as other polypeptides. It possesses a DNA-stimulated ATPase activity that can destabilize histone-DNA interactions in reconstituted nucleosomes in an ATP-dependent manner, though the exact nature of this structural change is unknown. The SWI/SNF subfamily provides crucial nucleosome rearrangement, which is seen as ejection and/or sliding. The movement of nucleosomes provides easier access to the chromatin, allowing genes to be activated or repressed.

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 is a protein that in humans is encoded by the SMARCB1 gene.

Probable global transcription activator SNF2L2 is a protein that in humans is encoded by the SMARCA2 gene.

Actin-like protein 6A is a protein that in humans is encoded by the ACTL6A gene.

AT-rich interactive domain-containing protein 1A is a protein that in humans is encoded by the ARID1A gene.

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1 is a protein that in humans is encoded by the SMARCE1 gene.

SWI/SNF complex subunit SMARCC2 is a protein that in humans is encoded by the SMARCC2 gene.

AT-rich interactive domain-containing protein 1B is a protein that in humans is encoded by the ARID1B gene. ARID1B is a component of the human SWI/SNF chromatin remodeling complex.

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1 is a protein that in humans is encoded by the SMARCD1 gene.

Myosin-Ic is a protein that in humans is encoded by the MYO1C gene.

Helicase-like transcription factor is an enzyme that in humans is encoded by the HLTF gene.

Metastasis suppressor protein 1 is a protein that in humans is encoded by the MTSS1 gene. True to its name, it codes for a metastasis suppressor.

Protein polybromo-1 (PB1) also known as BRG1-associated factor 180 (BAF180) is a protein that in humans is encoded by the PBRM1 gene.

Helicase SRCAP is an enzyme that in humans is encoded by the SRCAP gene.

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 3 is a protein that in humans is encoded by the SMARCD3 gene.

NUAK family SNF1-like kinase 2 also known as SNF1/AMP kinase-related kinase (SNARK) is an enzyme that in humans is encoded by the NUAK2 gene. It's deficiency in humans causes anencephaly, a severe form of anterior neural tube defect that curtails brain development.

Probable global transcription activator SNF2L1 is a protein that in humans is encoded by the SMARCA1 gene.

GAS2-like protein 1 is a protein that in humans is encoded by the GAS2L1 gene.

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2 is a protein that in humans is encoded by the SMARCD2 gene.

Tropomodulin 2 (neuronal) also known as TMOD2 is a protein which in humans is encoded by the TMOD2 gene.

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.

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[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

Related Research Articles

References

Further reading