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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
  • EC 3.6.4.12 4
  • KIAA1122 4
  • EC 3.6.1 63
  • ADERM 3
  • HHEL1 4
  • ETL1 3
  • HEL1 3

External Ids for SMARCAD1 Gene

Previous GeneCards Identifiers for SMARCAD1 Gene

  • GC04P095521
  • GC04P095587
  • GC04P095486
  • GC04P095347
  • GC04P095128
  • GC04P090866

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 isolated congenital adermatoglyphia and adermatoglyphia. Among its related pathways are Signaling pathways regulating pluripotency of stem cells and PEDF Induced Signaling. 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

Regulatory Elements for SMARCAD1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SMARCAD1 Gene

Chromosome:
4
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

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

  • Ubiquitination at Lys 261
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SMARCAD1 (SMARCAD1)

Domains & Families for SMARCAD1 Gene

Protein Domains for SMARCAD1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H4L7

UniProtKB/Swiss-Prot:

SMRCD_HUMAN :
  • Contains 2 CUE domains.
  • Belongs to the SNF2/RAD54 helicase family.
Domain:
  • Contains 2 CUE domains.
  • Contains 1 helicase ATP-binding domain.
  • Contains 1 helicase C-terminal domain.
Family:
  • Belongs to the SNF2/RAD54 helicase family.
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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SMARCAD1

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets 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

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 & Interactions 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

No data available for SIGNOR curated interactions for SMARCAD1 Gene

Drugs & Compounds for SMARCAD1 Gene

(1) Drugs for SMARCAD1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0

(3) Additional Compounds for SMARCAD1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Antagonist, Gating inhibitor 58-64-0
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds 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:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SMARCAD1

Flow Cytometry Products

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

Protein differential expression in normal tissues from HIPED for SMARCAD1 Gene

This gene is overexpressed in Esophagus (18.1), Fetal Liver (11.1), and Lung (9.7).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with SMARCAD1: view

Protein tissue co-expression partners for SMARCAD1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for SMARCAD1 Gene

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
cow
(Bos Taurus)
Mammalia SMARCAD1 35
  • 94.65 (n)
  • 96.89 (a)
SMARCAD1 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SMARCAD1 35
  • 94.87 (n)
  • 97.27 (a)
SMARCAD1 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Smarcad1 35
  • 88.73 (n)
  • 92.94 (a)
Smarcad1 16
Smarcad1 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SMARCAD1 35
  • 99.84 (n)
  • 99.9 (a)
SMARCAD1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Smarcad1 35
  • 89.05 (n)
  • 93.45 (a)
oppossum
(Monodelphis domestica)
Mammalia SMARCAD1 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SMARCAD1 36
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves SMARCAD1 35
  • 71.41 (n)
  • 69.76 (a)
SMARCAD1 36
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SMARCAD1 36
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia smarcad1 35
  • 66.87 (n)
  • 65.66 (a)
Str.11960 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.33554 35
zebrafish
(Danio rerio)
Actinopterygii LOC563175 35
  • 60.13 (n)
  • 60.92 (a)
wufi25c01 35
smarcad1 36
  • 53 (a)
OneToMany
SMARCAD1 (2 of 2) 36
  • 52 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5000 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009980 35
  • 37.39 (n)
  • 25.03 (a)
fruit fly
(Drosophila melanogaster)
Insecta Etl1 35
  • 50.98 (n)
  • 43.73 (a)
Etl1 36
  • 40 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea M03C11.8 36
  • 33 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FUN30 36
  • 27 (a)
OneToOne
FUN30 38
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12375 35
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

(2) 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
VAR_028037 -
VAR_028038 -
VAR_028039 -
VAR_028040 -
VAR_028041 -

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

Variation tolerance for SMARCAD1 Gene

Residual Variation Intolerance Score: 7.42% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.45; 90.98% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SMARCAD1 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMARCAD1 Gene

Disorders for SMARCAD1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SMARCAD1 Gene - From: OMIM, ClinVar, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
isolated congenital adermatoglyphia
  • immigration delay disease
adermatoglyphia
  • absence of fingerprints
- elite association

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SMARCAD1
genes like me logo Genes that share disorders with SMARCAD1: view

No data available for Genatlas for SMARCAD1 Gene

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 23 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  3. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 67
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 67
  5. Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. (PMID: 24952745) Arking D.E. … Newton-Cheh C. (Nat. Genet. 2014) 67

Products for SMARCAD1 Gene

Sources for SMARCAD1 Gene

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