SMARCAD1

Protein-coding gene in the species Homo sapiens
SMARCAD1
Identifiers
AliasesSMARCAD1, ADERM, ETL1, HEL1, SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1, BASNS, HRZ
External IDsOMIM: 612761 MGI: 95453 HomoloGene: 5301 GeneCards: SMARCAD1
Gene location (Human)
Chromosome 4 (human)
Chr.Chromosome 4 (human)[1]
Chromosome 4 (human)
Genomic location for SMARCAD1
Genomic location for SMARCAD1
Band4q22.3Start94,207,611 bp[1]
End94,291,292 bp[1]
Gene location (Mouse)
Chromosome 6 (mouse)
Chr.Chromosome 6 (mouse)[2]
Chromosome 6 (mouse)
Genomic location for SMARCAD1
Genomic location for SMARCAD1
Band6 C1|6 30.11 cMStart65,019,567 bp[2]
End65,093,045 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 6: 65.02 – 65.09 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000163104 – Ensembl, May 2017
  2. ^ a b c 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. 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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