ID:SMRCD_HUMAN DESCRIPTION: RecName: Full=SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1; EC=3.6.4.12; AltName: Full=ATP-dependent helicase 1; Short=hHEL1; FUNCTION: DNA helicase that possesses intrinsic ATP-dependent nucleosome-remodeling activity and is both required for DNA repair and heterochromatin organization. Promotes DNA end resection of double-strand breaks (DSBs) following DNA damage: probably acts by weakening histone DNA interactions in nucleosomes flanking DSBs. Required for the restoration of heterochromatin organization after replication. Acts at replication sites to facilitate the maintenance of heterochromatin by directing H3 and H4 histones deacetylation, H3 'Lys-9' trimethylation (H3K9me3) and restoration of silencing. CATALYTIC ACTIVITY: ATP + H(2)O = ADP + phosphate. SUBUNIT: Binds to DNA preferentially in the vicinity of transcriptional start sites. Interacts with MSH2 and TRIM28. Part of a complex composed of TRIM28, HDAC1, HDAC2 and EHMT2. Interacts with PCNA. SUBCELLULAR LOCATION: Nucleus. Chromosome. Note=Colocalizes with PCNA at replication forks during S phase. Recruited to double- strand breaks (DSBs) sites of DNA damage. TISSUE SPECIFICITY: Isoform 1 is expressed ubiquitously. Isoform 3 is expressed mainly in skin, fibroblasts, keratinocytes and esophagus. PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. DISEASE: Defects in SMARCAD1 are the cause of adermatoglyphia (ADERM) [MIM:136000]; also known as immigration delay disease. An autosomal dominant condition characterized by the lack of epidermal ridges on the palms and soles, which results in the absence of fingerprints, and is associated with a reduced number of sweat gland openings and reduced sweating of palms and soles. Note=A splice site mutation causing aberrant splicing of isoform 3 is likely to exert a loss-of-function effect and is associated with ADERM. SIMILARITY: Belongs to the SNF2/RAD54 helicase family. SIMILARITY: Contains 2 CUE domains. SIMILARITY: Contains 1 helicase ATP-binding domain. SIMILARITY: Contains 1 helicase C-terminal domain. SEQUENCE CAUTION: Sequence=AAH17953.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=BAA86436.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAB14759.1; Type=Erroneous initiation; Note=Translation N-terminally extended; WEB RESOURCE: Name=Protein Spotlight; Note=The ends of our fingers - Issue 136 of March 2012; URL="http://www.expasy.org/spotlight/back_issues/sptlt136.shtml";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9H4L7
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
