SMARCAD1: Difference between revisions

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{{Infobox_gene}}
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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]].<ref name="pmid11031099">{{cite journal | vauthors = 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 | title = 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 | journal = Genomics | volume = 69 | issue = 2 | pages = 162–73 |date=Jan 2001 | pmid = 11031099 | pmc =  | doi = 10.1006/geno.2000.6281 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=56916| accessdate = }}</ref>
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{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
| HGNCid = 18398
| Symbol = SMARCAD1
| AltSymbols =; ETL1; DKFZp762K2015; KIAA1122
| OMIM = 
| ECnumber = 
| Homologene = 5301
| MGIid = 95453
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}}{{GNF_GO|id=GO:0003677 |text = DNA binding}}{{GNF_GO|id=GO:0004386 |text = helicase activity}}{{GNF_GO|id=GO:0005515 |text = protein binding}}{{GNF_GO|id=GO:0005524 |text = ATP binding}}{{GNF_GO|id=GO:0016787 |text = hydrolase activity}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0016363 |text = nuclear matrix}}
  | Process = {{GNF_GO|id=GO:0000018 |text = regulation of DNA recombination}} {{GNF_GO|id=GO:0009117 |text = nucleotide metabolic process}} {{GNF_GO|id=GO:0016568 |text = chromatin modification}} {{GNF_GO|id=GO:0045941 |text = positive regulation of transcription}} {{GNF_GO|id=GO:0051260 |text = protein homooligomerization}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 56916
    | Hs_Ensembl = ENSG00000163104
    | Hs_RefseqProtein = NP_064544
    | Hs_RefseqmRNA = NM_020159
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 4
    | Hs_GenLoc_start = 95347896
    | Hs_GenLoc_end = 95431464
    | Hs_Uniprot = Q9H4L7
    | Mm_EntrezGene = 13990
    | Mm_Ensembl = ENSMUSG00000029920
    | Mm_RefseqmRNA = NM_007958
    | Mm_RefseqProtein = NP_031984
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 6
    | Mm_GenLoc_start = 64972245
    | Mm_GenLoc_end = 65045627
    | Mm_Uniprot = Q3UGK6
  }}
}}
'''SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1''', also known as '''SMARCAD1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=56916| accessdate = }}</ref>


Proper expression of SMARCAD1 may be important to [[fingerprint]] development,<ref name="sciencemag.org">{{cite web | title=The Mystery of the Missing Fingerprints |
    url=http://news.sciencemag.org/sciencenow/2011/08/the-mystery-of-the-missing-fingerprints.html
}}</ref> and the disruption of its expression is believed to cause [[adermatoglyphia]], the absence of fingerprints.
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==References==
{{reflist}}


==References==
{{reflist|2}}
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
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| citations =  
| citations =  
*{{cite journal | author=Olsen JV, Blagoev B, Gnad F, ''et al.'' |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. |journal=Cell |volume=127 |issue= 3 |pages= 635-48 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026 }}
*{{cite journal   |vauthors=Olsen JV, Blagoev B, Gnad F, etal |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. |journal=Cell |volume=127 |issue= 3 |pages= 635–48 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026 }}
*{{cite journal | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal   |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
*{{cite journal | author=Beausoleil SA, Jedrychowski M, Schwartz D, ''et al.'' |title=Large-scale characterization of HeLa cell nuclear phosphoproteins. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=101 |issue= 33 |pages= 12130-5 |year= 2004 |pmid= 15302935 |doi= 10.1073/pnas.0404720101 }}
*{{cite journal   |vauthors=Beausoleil SA, Jedrychowski M, Schwartz D, etal |title=Large-scale characterization of HeLa cell nuclear phosphoproteins. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=101 |issue= 33 |pages= 12130–5 |year= 2004 |pmid= 15302935 |doi= 10.1073/pnas.0404720101 | pmc=514446 }}
*{{cite journal | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal   |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899  | pmc=139241 }}
*{{cite journal | author=Adra CN, Donato JL, Badovinac R, ''et al.'' |title=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. |journal=Genomics |volume=69 |issue= 2 |pages= 162-73 |year= 2001 |pmid= 11031099 |doi= 10.1006/geno.2000.6281 }}
*{{cite journal   |vauthors=Hirosawa M, Nagase T, Ishikawa K, etal |title=Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. |journal=DNA Res. |volume=6 |issue= 5 |pages= 329–36 |year= 2000 |pmid= 10574461 |doi=10.1093/dnares/6.5.329 }}
*{{cite journal | author=Hirosawa M, Nagase T, Ishikawa K, ''et al.'' |title=Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. |journal=DNA Res. |volume=6 |issue= 5 |pages= 329-36 |year= 2000 |pmid= 10574461 |doi=  }}
*{{cite journal   |vauthors=Soininen R, Schoor M, Henseling U, etal |title=The mouse Enhancer trap locus 1 (Etl-1): a novel mammalian gene related to Drosophila and yeast transcriptional regulator genes. |journal=Mech. Dev. |volume=39 |issue= 1–2 |pages= 111–23 |year= 1993 |pmid= 1489724 |doi=10.1016/0925-4773(92)90030-N }}
*{{cite journal | author=Soininen R, Schoor M, Henseling U, ''et al.'' |title=The mouse Enhancer trap locus 1 (Etl-1): a novel mammalian gene related to Drosophila and yeast transcriptional regulator genes. |journal=Mech. Dev. |volume=39 |issue= 1-2 |pages= 111-23 |year= 1993 |pmid= 1489724 |doi=  }}
}}
}}
{{refend}}
{{refend}}


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Latest revision as of 06:39, 11 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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.[1][2]

Proper expression of SMARCAD1 may be important to fingerprint development,[3] and the disruption of its expression is believed to cause adermatoglyphia, the absence of fingerprints.

References

  1. ↑ 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.
  2. ↑ "Entrez Gene: SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1".
  3. ↑ "The Mystery of the Missing Fingerprints".

Further reading



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