SMARCAD1

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]

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)
Chr.Chromosome 4 (human)[1]
Band4q22.3Start94,207,611 bp[1]
End94,291,292 bp[1]
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_001240321
NP_031984
NP_001342177
NP_001342178
NP_001342179

Location (UCSC)Chr 4: 94.21 – 94.29 MbChr 6: 65.04 – 65.12 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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. GRCh38: Ensembl release 89: ENSG00000163104 - Ensembl, May 2017
  2. 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

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.