Aliases for SMARCAD1 Gene
Aliases for SMARCAD1 Gene
External Ids for SMARCAD1 Gene
- HGNC: 18398
- Entrez Gene: 56916
- Ensembl: ENSG00000163104
- OMIM: 612761
- UniProtKB: Q9H4L7
Previous GeneCards Identifiers for SMARCAD1 Gene
- GC04P095521
- GC04P095587
- GC04P095486
- GC04P095347
- GC04P095128
- GC04P090866
Summaries 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 Basan Syndrome. Among its related pathways are PEDF Induced Signaling and AMPK Enzyme Complex Pathway. Gene Ontology (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.
Additional gene information for SMARCAD1 Gene
- Monarch Initiative
- Search for SMARCAD1 at DataMed
- Search for SMARCAD1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMARCAD1 Gene
Genomics for SMARCAD1 Gene
GeneHancer (GH) Regulatory Elements for SMARCAD1 Gene
Promoters and enhancers for SMARCAD1 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH04I094206 | Promoter/Enhancer | 2.1 | EPDnew Ensembl ENCODE | 550.8 | +0.4 | 417 | 2.5 | HDGF CLOCK SMAD1 FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 | LOC101929210 SMARCAD1 GC04P094239 | |
| GH04I094253 | Promoter | 0.6 | EPDnew | 550.2 | +45.7 | 45682 | 0.1 | PKNOX1 | SMARCAD1 GC04P094239 GC04M094330 | |
| GH04I094588 | Enhancer | 0.6 | dbSUPER | 42.2 | +381.6 | 381638 | 1.2 | ZBTB11 ZNF140 ZC3H11A CEBPG ZBTB8A ZNF623 ZNF781 ZNF697 ZNF555 ZNF213 | SMARCAD1 PDLIM5 PIR44106 ENSG00000249951 | |
| GH04I094484 | Enhancer | 1.3 | Ensembl ENCODE dbSUPER | 17.7 | +280.9 | 280888 | 7.9 | TCF12 ZNF121 ELK1 FOS REST ZNF592 ATF4 MAFF SMARCA4 KLF1 | PDLIM5 SMARCAD1 PIR44106 | |
| GH04I094504 | Enhancer | 0.4 | dbSUPER | 16.5 | +297.3 | 297337 | 0.9 | ZNF202 ZNF184 ZBTB33 | SMARCAD1 PDLIM5 PIR44106 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around SMARCAD1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for SMARCAD1 Gene
Genomic Locations for SMARCAD1 Gene
- chr4:94,207,608-94,291,292
- (GRCh38/hg38)
- Size:
- 83,685 bases
- Orientation:
- Plus strand
- chr4:95,128,759-95,212,443
- (GRCh37/hg19)
Genomic View for SMARCAD1 Gene
Genes around SMARCAD1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 4q22.3 by Ensembl
- 4q22.3 by Entrez Gene
- 4q22.3 by HGNC
SMARCAD1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for SMARCAD1 Gene
Selected DME Specific Peptides for SMARCAD1 Gene
- Q9H4L7:
-
- DEMGLGKT
- NRLLLTGTP
- MGLGKTIQ
- AGGLGINL
- NGILADE
Post-translational modifications for SMARCAD1 Gene
- Ubiquitination at posLast=261261
Other Protein References for SMARCAD1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Cell Signaling Technology (CST) Antibodies for SMARCAD1 (SMARCAD1)
- Novus Biologicals Antibodies for SMARCAD1
-
Abcam antibodies for SMARCAD1
- Invitrogen Antibodies for SMARCAD1
- Search GeneTex for Antibodies for SMARCAD1
Protein Products
-
OriGene Purified Proteins for SMARCAD1
- Search Origene for MassSpec and Protein Over-expression Lysates for SMARCAD1
- Origene Custom Protein Services for SMARCAD1
- antibodies-online: Search results for 4 available SMARCAD1 Proteins ranked by validation data
- Compare Top SMARCAD1 Proteins
-
Quality Products:
- Search GeneTex for Proteins for SMARCAD1
-
Abcam proteins for SMARCAD1
Assay Products
Domains & Families for SMARCAD1 Gene
Gene Families for SMARCAD1 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for SMARCAD1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for SMARCAD1 Gene
Graphical View of Domain Structure for InterPro Entry
Q9H4L7- Family:
-
- Belongs to the SNF2/RAD54 helicase family.
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
Phenotypes From GWAS Catalog for SMARCAD1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0003676 | nucleic acid binding | NAS | 11031099 |
| GO:0003677 | DNA binding | IDA,IEA | 18675275 |
| GO:0004386 | helicase activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 18675275 |
Phenotypes for SMARCAD1 Gene
- MGI mutant phenotypes for SMARCAD1:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for SMARCAD1:
Animal Models for SMARCAD1 Gene
- MGI Knock Outs for SMARCAD1:
-
- Smarcad1 tm1Gos
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for SMARCAD1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for SMARCAD1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SMARCAD1 gene
- Search ViGene Biosciences for SMARCAD1
CRISPR Products
-
OriGene CRISPR knockouts for SMARCAD1
- genomics-online: gRNA clones - Search results for available SMARCAD1 gene related products
- Applied Biological Materials CRISPR for SMARCAD1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SMARCAD1
- GenScript: Design CRISPR guide RNA sequences for SMARCAD1
miRNA for SMARCAD1 Gene
- miRTarBase miRNAs that target SMARCAD1
-
- hsa-mir-196a-5p (MIRT026072)
- hsa-let-7d-5p (MIRT032177)
- hsa-mir-320a (MIRT044732)
- hsa-let-7a-5p (MIRT052382)
- hsa-let-7b-5p (MIRT094457)
- hsa-let-7c-5p (MIRT094458)
- hsa-let-7e-5p (MIRT094460)
- hsa-let-7f-5p (MIRT094461)
- hsa-mir-98-5p (MIRT094463)
- hsa-let-7g-5p (MIRT094464)
- hsa-let-7i-5p (MIRT094465)
- hsa-mir-3927-3p (MIRT094473)
- hsa-mir-4458 (MIRT094474)
- hsa-mir-4500 (MIRT094475)
- hsa-mir-6831-5p (MIRT094478)
- hsa-mir-190a-3p (MIRT213823)
- hsa-mir-4443 (MIRT213824)
- hsa-mir-4650-3p (MIRT213825)
- hsa-mir-5011-5p (MIRT213826)
- hsa-mir-5692a (MIRT213827)
- hsa-mir-6515-5p (MIRT213828)
- hsa-mir-1277-5p (MIRT311040)
- hsa-mir-524-5p (MIRT501056)
- hsa-mir-520d-5p (MIRT501057)
- hsa-mir-6851-5p (MIRT501058)
- hsa-mir-3689d (MIRT501059)
- hsa-mir-5002-5p (MIRT501060)
- hsa-mir-5680 (MIRT501061)
- hsa-mir-338-5p (MIRT501062)
- hsa-mir-1251-3p (MIRT529348)
- hsa-mir-892c-5p (MIRT529349)
- hsa-mir-5583-5p (MIRT529350)
- hsa-mir-3129-3p (MIRT529351)
- hsa-mir-548av-3p (MIRT529352)
- hsa-mir-548f-3p (MIRT529353)
- hsa-mir-548e-3p (MIRT529354)
- hsa-mir-548az-3p (MIRT529355)
- hsa-mir-548ar-3p (MIRT529356)
- hsa-mir-548a-3p (MIRT529357)
miRNA Products
- Search ViGene Biosciences for SMARCAD1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for SMARCAD1
- Browse OriGene Inhibitory RNA Products For SMARCAD1
- genomics-online: shRNA clones - Search results for available SMARCAD1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for SMARCAD1 gene
Clone Products
-
OriGene ORF clones in human for SMARCAD1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for SMARCAD1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SMARCAD1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available SMARCAD1 gene related products
- orf clones - Search results for available SMARCAD1 gene related products
- Applied Biological Materials Clones for SMARCAD1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for SMARCAD1
-
ViGene Biosciences adenoviral particle packaged cDNA for SMARCAD1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for SMARCAD1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SMARCAD1 gene
No data available for 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.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 2 |
- Nucleoplasm (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000792 | heterochromatin | ISS | -- |
| GO:0005634 | nucleus | IEA | -- |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005694 | chromosome | IEA | -- |
| GO:0016363 | nuclear matrix | NAS | 11031099 |
Pathways & Interactions for SMARCAD1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | AMPK Enzyme Complex Pathway | ||
| 2 | Signaling pathways regulating pluripotency of stem cells | ||
| 3 | Chromatin Regulation / Acetylation | ||
| 4 | BRCA1 Pathway | ||
| 5 | PEDF Induced Signaling | ||
Pathways by source for SMARCAD1 Gene
1 Cell Signaling Technology pathway for SMARCAD1 Gene
1 KEGG pathway for SMARCAD1 Gene
5 Qiagen pathways for SMARCAD1 Gene
Interacting Proteins for SMARCAD1 Gene
Selected Interacting proteins:
ENSP00000351947
Q9H4L7-SMRCD_HUMAN
for SMARCAD1 Gene via
STRING
MINT
IID
| 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:0006281 | DNA repair | IEA | -- |
| GO:0006325 | chromatin organization | NAS | 11031099 |
| GO:0006338 | chromatin remodeling | NAS | 21549307 |
No data available for SIGNOR curated interactions for SMARCAD1 Gene
Drugs & Compounds for SMARCAD1 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
Full agonist, Agonist | 58-64-0 |
|
Transcripts for SMARCAD1 Gene
mRNA/cDNA for SMARCAD1 Gene
- (7) REFSEQ mRNAs :
- (12) Additional mRNA sequences :
- (148) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for SMARCAD1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for SMARCAD1
- genomics-online: gRNA clones - Search results for available SMARCAD1 gene related products
- Applied Biological Materials CRISPR for SMARCAD1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SMARCAD1
- GenScript: Design CRISPR guide RNA sequences for SMARCAD1
miRNA Products
- Search ViGene Biosciences for SMARCAD1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for SMARCAD1
- Browse OriGene Inhibitory RNA Products For SMARCAD1
- genomics-online: shRNA clones - Search results for available SMARCAD1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for SMARCAD1 gene
Clone Products
-
OriGene ORF clones in human for SMARCAD1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for SMARCAD1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SMARCAD1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available SMARCAD1 gene related products
- orf clones - Search results for available SMARCAD1 gene related products
- Applied Biological Materials Clones for SMARCAD1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for SMARCAD1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Head Mesenchyme (Muscoskeletal System)
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, MaxQB, and MOPED for SMARCAD1 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of SMARCAD1 Gene:
SMARCAD1SOURCE GeneReport for Unigene cluster for SMARCAD1 Gene:
Hs.410406mRNA 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.
Evidence on tissue expression from TISSUES for SMARCAD1 Gene
- Nervous system(4.5)
- Kidney(4.2)
- Liver(4.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SMARCAD1 Gene
Germ Layers:
- ectoderm
Systems:
- integumentary
Organs:
Limb:
- digit
- finger
- foot
- hand
- lower limb
- nail
- toe
- upper limb
General:
- skin
Primer Products
-
OriGene qPCR primer pairs for SMARCAD1
-
OriGene qPCR primer pairs and template standards for SMARCAD1
- genomics-online: primer clones - Search results for available SMARCAD1 gene related 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SMARCAD1 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | SMARCAD1 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | SMARCAD1 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Smarcad1 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Smarcad1 16 34 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | SMARCAD1 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | SMARCAD1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | SMARCAD1 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | SMARCAD1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | smarcad1 33 |
|
||
| Str.11960 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.33554 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | LOC563175 33 |
|
||
| smarcad1 34 |
|
OneToMany | |||
| SMARCAD1 (2 of 2) 34 |
|
OneToMany | |||
| wufi25c01 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.5000 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Etl1 33 34 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009980 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | M03C11.8 34 |
|
OneToOne | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | FUN30 34 36 |
|
OneToOne | |
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.12375 33 |
|
- Species where no ortholog for SMARCAD1 was found in the sources mined by GeneCards:
-
- 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)
Paralogs for SMARCAD1 Gene
(2) SIMAP similar genes for SMARCAD1 Gene using alignment to 3 proteins:
No data available for Paralogs for SMARCAD1 Gene
Variants for SMARCAD1 Gene
| SNP ID | Clin | Chr 04 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1057519613 | pathogenic, Adermatoglyphia, Basan syndrome | 94,253,672(+) | G/A/T | intron_variant, splice_donor_variant | |
| rs895436485 | pathogenic, Basan syndrome | 94,253,674(+) | A/G/T | intron_variant | |
| rs200948051 | uncertain-significance, not specified | 94,226,232(+) | G/A/T | 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant | |
| rs1000013299 | -- | 94,238,907(+) | G/A | genic_upstream_transcript_variant, intron_variant | |
| rs10000247 | -- | 94,252,099(+) | G/A/C | genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant |
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)
Additional Variant Information for SMARCAD1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMARCAD1 Gene
Disorders for SMARCAD1 Gene
(4) MalaCards diseases for SMARCAD1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| adermatoglyphia |
|
|
| basan syndrome |
|
|
| absence of fingerprints congenital milia |
|
|
| epilepsy, familial temporal lobe, 1 |
|
|
Search SMARCAD1 in MalaCards
View complete list of genes associated with diseases
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, ECO:0000269 PubMed:24909267}. Note=The disease is caused by mutations affecting the gene represented in this entry. Splice site mutations causing aberrant splicing of skin-specific isoform 3 are likely to exert a loss-of-function effect and are involved in ADERM. {ECO:0000269 PubMed:21820097, ECO:0000269 PubMed:24909267}.
- Basan syndrome (BSNS) [MIM:129200]: An autosomal dominant form of adermatoglyphia associated with congenital facial milia, acral blistering, digital contractures, and nail abnormalities. Adermatoglyphia is defined by the lack of epidermal ridges on the palms and soles, which results in the absence of fingerprints. {ECO:0000269 PubMed:24664640, ECO:0000269 PubMed:26932190}. Note=The disease is caused by mutations affecting the gene represented in this entry. Splice site mutations causing aberrant splicing of skin-specific isoform 3 are likely to exert a loss-of-function effect and are involved in BSNS. {ECO:0000269 PubMed:24664640, ECO:0000269 PubMed:26932190}.
Additional Disease Information for SMARCAD1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for SMARCAD1 Gene
Publications for SMARCAD1 Gene
- 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 CN … Drews R (Genomics 2000) 2 3 4 22 58
- Genome-wide linkage analysis and whole-genome sequencing identify a recurrent SMARCAD1 variant in a unique Chinese family with Basan syndrome. (PMID: 26932190) Li M … Yao Z (European journal of human genetics : EJHG 2016) 3 4 58
- Mutations in SMARCAD1 cause autosomal dominant adermatoglyphia and perturb the expression of epidermal differentiation-associated genes. (PMID: 24909267) Nousbeck J … Sprecher E (The British journal of dermatology 2014) 3 4 58
- The yeast Fun30 and human SMARCAD1 chromatin remodellers promote DNA end resection. (PMID: 22960744) Costelloe T … Llorente B (Nature 2012) 3 4 58
- Maintenance of silent chromatin through replication requires SWI/SNF-like chromatin remodeler SMARCAD1. (PMID: 21549307) Rowbotham SP … Mermoud JE (Molecular cell 2011) 3 4 58
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Sources for SMARCAD1 Gene
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