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Aliases for SMARCAD1 Gene

Aliases for SMARCAD1 Gene

  • SWI/SNF-Related, Matrix-Associated Actin-Dependent Regulator Of Chromatin, Subfamily A, Containing DEAD/H Box 1 2 3
  • ATP-Dependent Helicase 1 3 4
  • KIAA1122 4 6
  • ADERM 3 6
  • ETL1 3 6
  • HEL1 3 6
  • SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin Subfamily A Containing DEAD/H Box 1 3
  • EC 3.6.4.12 4
  • EC 3.6.1 64
  • HHEL1 4

External Ids for SMARCAD1 Gene

Summaries for SMARCAD1 Gene

Entrez Gene Summary for SMARCAD1 Gene

  • This gene encodes a member of the SNF subfamily of helicase proteins. The encoded protein plays a critical role in the restoration of heterochromatin organization and propagation of epigenetic patterns following DNA replication by mediating histone H3/H4 deacetylation. Mutations in this gene are associated with adermatoglyphia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

GeneCards Summary for SMARCAD1 Gene

SMARCAD1 (SWI/SNF-Related, Matrix-Associated Actin-Dependent Regulator Of Chromatin, Subfamily A, Containing DEAD/H Box 1) is a Protein Coding gene. Diseases associated with SMARCAD1 include adermatoglyphia and isolated adermatoglyphia. Among its related pathways are PEDF Induced Signaling and BRCA1 Pathway. GO annotations related to this gene include nucleic acid binding and helicase activity.

UniProtKB/Swiss-Prot for SMARCAD1 Gene

  • 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.

Gene Wiki entry for SMARCAD1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMARCAD1 Gene

Genomics for SMARCAD1 Gene

Genomic Location for SMARCAD1 Gene

Start:
94,207,608 bp from pter
End:
94,291,292 bp from pter
Size:
83,685 bases
Orientation:
Plus strand

Genomic View for SMARCAD1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SMARCAD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMARCAD1 Gene

Regulatory Elements for SMARCAD1 Gene

Proteins for SMARCAD1 Gene

  • Protein details for SMARCAD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H4L7-SMRCD_HUMAN
    Recommended name:
    SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1
    Protein Accession:
    Q9H4L7
    Secondary Accessions:
    • B7Z799
    • Q05D56
    • Q96SX1
    • Q9H017
    • Q9H860
    • Q9NPU9
    • Q9ULU7

    Protein attributes for SMARCAD1 Gene

    Size:
    1026 amino acids
    Molecular mass:
    117402 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=AAH17953.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA86436.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB14759.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for SMARCAD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SMARCAD1 Gene

Proteomics data for SMARCAD1 Gene at MOPED

Selected DME Specific Peptides for SMARCAD1 Gene

Post-translational modifications for SMARCAD1 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys261

Domains for SMARCAD1 Gene

Protein Domains for SMARCAD1 Gene

UniProtKB/Swiss-Prot:

SMRCD_HUMAN
Domain:
  • Contains 2 CUE domains.:
    • Q9H4L7
  • Contains 1 helicase ATP-binding domain.:
    • Q9H4L7
  • Contains 1 helicase C-terminal domain.:
    • Q9H4L7
Family:
  • Belongs to the SNF2/RAD54 helicase family.:
    • Q9H4L7
genes like me logo Genes that share domains with SMARCAD1: view

No data available for Gene Families for SMARCAD1 Gene

Function for SMARCAD1 Gene

Molecular function for SMARCAD1 Gene

UniProtKB/Swiss-Prot CatalyticActivity: ATP + H(2)O = ADP + phosphate
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for SMARCAD1 Gene

Gene Ontology (GO) - Molecular Function for SMARCAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding NAS 11031099
GO:0003677 DNA binding IDA 18675275
GO:0004386 helicase activity IEA --
GO:0005515 protein binding IPI 18675275
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with SMARCAD1: view
genes like me logo Genes that share phenotypes with SMARCAD1: view

miRNA for SMARCAD1 Gene

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for SMARCAD1 Gene

Localization for SMARCAD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMARCAD1 Gene

Nucleus. Chromosome. Note=Colocalizes with PCNA at replication forks during S phase. Recruited to double-strand breaks (DSBs) sites of DNA damage.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SMARCAD1 Gene COMPARTMENTS Subcellular localization image for SMARCAD1 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for SMARCAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000792 heterochromatin ISS --
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0016363 nuclear matrix NAS 11031099
GO:0035861 site of double-strand break IDA 22960744
genes like me logo Genes that share ontologies with SMARCAD1: view

Pathways for SMARCAD1 Gene

genes like me logo Genes that share pathways with SMARCAD1: view

Pathways by source for SMARCAD1 Gene

Gene Ontology (GO) - Biological Process for SMARCAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000018 regulation of DNA recombination IEP 11031099
GO:0000729 DNA double-strand break processing IMP 22960744
GO:0006338 chromatin remodeling NAS 21549307
GO:0009117 nucleotide metabolic process NAS 11031099
GO:0016568 chromatin modification NAS 11031099
genes like me logo Genes that share ontologies with SMARCAD1: view

Transcripts for SMARCAD1 Gene

Unigene Clusters for SMARCAD1 Gene

SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SMARCAD1 Gene

No ASD Table

Relevant External Links for SMARCAD1 Gene

GeneLoc Exon Structure for
SMARCAD1
ECgene alternative splicing isoforms for
SMARCAD1

Expression for SMARCAD1 Gene

mRNA expression in normal human tissues for SMARCAD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SMARCAD1 Gene

SOURCE GeneReport for Unigene cluster for SMARCAD1 Gene Hs.410406

mRNA Expression by UniProt/SwissProt for SMARCAD1 Gene

Q9H4L7-SMRCD_HUMAN
Tissue specificity: Isoform 1 is expressed ubiquitously. Isoform 3 is expressed mainly in skin, fibroblasts, keratinocytes and esophagus.
genes like me logo Genes that share expressions with SMARCAD1: view

Orthologs for SMARCAD1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SMARCAD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SMARCAD1 36
  • 99.84 (n)
  • 99.9 (a)
SMARCAD1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SMARCAD1 36
  • 94.65 (n)
  • 96.89 (a)
SMARCAD1 37
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SMARCAD1 36
  • 94.87 (n)
  • 97.27 (a)
SMARCAD1 37
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Smarcad1 36
  • 88.73 (n)
  • 92.94 (a)
Smarcad1 16
Smarcad1 37
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SMARCAD1 37
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SMARCAD1 37
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Smarcad1 36
  • 89.05 (n)
  • 93.45 (a)
chicken
(Gallus gallus)
Aves SMARCAD1 36
  • 71.41 (n)
  • 69.76 (a)
SMARCAD1 37
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SMARCAD1 37
  • 70 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.33554 36
tropical clawed frog
(Silurana tropicalis)
Amphibia smarcad1 36
  • 66.87 (n)
  • 65.66 (a)
Str.11960 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5000 36
zebrafish
(Danio rerio)
Actinopterygii LOC563175 36
  • 60.13 (n)
  • 60.92 (a)
smarcad1 37
  • 53 (a)
OneToMany
SMARCAD1 (2 of 2) 37
  • 52 (a)
OneToMany
wufi25c01 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009980 36
  • 37.39 (n)
  • 25.03 (a)
fruit fly
(Drosophila melanogaster)
Insecta Etl1 36
  • 50.98 (n)
  • 43.73 (a)
Etl1 37
  • 40 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea M03C11.8 37
  • 33 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FUN30 37
  • 27 (a)
OneToOne
FUN30 39
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12375 36
Species with no ortholog for SMARCAD1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SMARCAD1 Gene

ENSEMBL:
Gene Tree for SMARCAD1 (if available)
TreeFam:
Gene Tree for SMARCAD1 (if available)

Paralogs for SMARCAD1 Gene

Selected SIMAP similar genes for SMARCAD1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with SMARCAD1: view

No data available for Paralogs for SMARCAD1 Gene

Variants for SMARCAD1 Gene

Sequence variations from dbSNP and Humsavar for SMARCAD1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs2883 -- 94,237,459(-) TTATT(A/T)AAAAA intron-variant
rs8026 -- 94,291,034(+) TCTTC(A/G)TGTGT utr-variant-3-prime, nc-transcript-variant
rs8336 -- 94,290,459(-) TTGAA(A/G)TGAAA utr-variant-3-prime, nc-transcript-variant
rs14696 -- 94,291,178(-) AACAA(A/C)AAAAA utr-variant-3-prime, nc-transcript-variant
rs169488 -- 94,219,618(+) CCCTA(G/T)GGCCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SMARCAD1 Gene

Variant ID Type Subtype PubMed ID
nsv879618 CNV Loss 21882294
nsv507182 CNV Insertion 20534489
nsv819645 CNV Gain 19587683
nsv292335 CNV Loss 16902084

Relevant External Links for SMARCAD1 Gene

HapMap Linkage Disequilibrium report
SMARCAD1
Human Gene Mutation Database (HGMD)
SMARCAD1

Disorders for SMARCAD1 Gene

(1) OMIM Diseases for SMARCAD1 Gene (612761)

UniProtKB/Swiss-Prot

SMRCD_HUMAN
  • Adermatoglyphia (ADERM) [MIM:136000]: 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. {ECO:0000269 PubMed:21820097}. Note=The disease is caused by mutations affecting the gene represented in this entry. A splice site mutation causing aberrant splicing of isoform 3 is likely to exert a loss-of-function effect and is associated with ADERM.

Relevant External Links for SMARCAD1

Genetic Association Database (GAD)
SMARCAD1
Human Genome Epidemiology (HuGE) Navigator
SMARCAD1
genes like me logo Genes that share disorders with SMARCAD1: view

Publications for SMARCAD1 Gene

  1. 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. (PMID: 11031099) Adra C.N. … Drews R. (Genomics 2000) 2 3 4 23
  2. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PMID: 10574461) Hirosawa M. … Ohara O. (DNA Res. 1999) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4

Products for SMARCAD1 Gene

Sources for SMARCAD1 Gene

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