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SMARCAD1 (SNF2 related chromatin remodeling ATPase with DExD box 1)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
56916
Gene nameGene Name - the full gene name approved by the HGNC.
SNF2 related chromatin remodeling ATPase with DExD box 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SMARCAD1
SynonymsGene synonyms aliases
ADERM, BASNS, ETL1, HEL1, HRZ, TYS
ChromosomeChromosome number
4
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q22.3
SummarySummary of gene provided in NCBI Entrez 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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs895436485 A>G,T Pathogenic Intron variant
rs1057519613 G>A,T Pathogenic Splice donor variant, intron variant
rs1114167276 T>C Pathogenic Splice donor variant, intron variant
rs1114167277 G>C Pathogenic Intron variant
rs1560542180 GAAGGCATAAGCACTGGT>- Pathogenic 5 prime UTR variant, intron variant, splice donor variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT026072 hsa-miR-196a-5p Sequencing 20371350
MIRT032177 hsa-let-7d-5p Sequencing 20371350
MIRT052382 hsa-let-7a-5p CLASH 23622248
MIRT044732 hsa-miR-320a CLASH 23622248
MIRT094457 hsa-let-7b-5p PAR-CLIP 20371350
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0000018 Process Regulation of DNA recombination IEP 11031099
GO:0000729 Process DNA double-strand break processing IMP 22960744
GO:0000792 Component Heterochromatin ISS
GO:0003677 Function DNA binding IBA 21873635
GO:0003677 Function DNA binding IDA 18675275
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9H4L7
Protein name SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 (SMARCAD1) (EC 3.6.4.12) (ATP-dependent helicase 1) (hHEL1)
Protein 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 act
PDB 6H3A , 6QU1 , 7Z36
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00176 SNF2_N
498 → 788
SNF2 family N-terminal domain
 Family
PF00271 Helicase_C
854 → 967
Helicase conserved C-terminal domain
 Family
Sequence 
MNLFNLDRFRFEKRNKIEEAPEATPQPSQPGPSSPISLSAEEENAEGEVSRANTPDSDIT
EKTEDSSVPETPDNERKASISYFKNQRGIQYIDLSSDSEDVVSPNCSNTVQEKTFNKDTV
IIVSEPSEDEESQGLPTMARRNDDISELEDLSELEDLKDAKLQTLKELFPQRSDNDLLKL
IESTSTMDGAIAAALLMFGDAGGGPRKRKLSSSSEPYEEDEFNDDQSIKKTRLDHGEESN
ESAESSSNWEKQESIVLKLQKEFPNFDKQELREVLKEHEWMYTEALESLKVFAEDQDMQY
VSQSEVPNGKEVSSRSQNYPKNATKTKLKQKFSMKAQNGFNKKRKKNVFNPKRVVEDSEY
DSGSDVGSSLDEDYSSGEEVMEDGYKGKILHFLQDASIGELTLIPQCSQKKAQKITELRP
FNSWEALFTKMSKTNGLSEDLIWHCKTLIQERDVVIRLMNKCEDISNKLTKQVTMLTGNG
GGWNIEQPSILNQSLSLKPYQKVGLNWLALVHKHGLNGILADEMGLGKTIQAIAFLAYLY
QEGNNGPHLIVVPASTIDNWLREVNLWCPTLKVLCYYGSQEERKQIRFNIHSRYEDYNVI
VTTYNCAISSSDDRSLFRRLKLNYAIFDEGHMLKNMGSIRYQHLMTINANNRLLLTGTPV
QNNLLELMSLLNFVMPHMFSSSTSEIRRMFSSKTKSADEQSIYEKERIAHAKQIIKPFIL
RRVKEEVLKQLPPKKDRIELCAMSEKQEQLYLGLFNRLKKSINNLEKNTEMCNVMMQLRK
MANHPLLHRQYYTAEKLKEMSQLMLKEPTHCEANPDLIFEDMEVMTDFELHVLCKQYRHI
NNFQLDMDLILDSGKFRVLGCILSELKQKGDRVVLFSQFTMMLDILEVLLKHHQHRYLRL
DGKTQISERIHLIDEFNTDMDIFVFLLSTKAGGLGINLTSANVVILHDIDCNPYNDKQAE
DRCHRVGQTKEVLVIKLISQGTIEESMLKINQQKLKLEQDMTTVDEGDEGSMPADIATLL
KTSMGL
Sequence length 1026
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
  Signaling pathways regulating pluripotency of stem cells  
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Basan syndrome Basan syndrome, Absence of fingerprints-congenital milia syndrome rs1057519613, rs895436485 24664640, 24909267, 26932190
Ectodermal dysplasia Ectodermal Dysplasia rs74315309, rs121908116, rs1558814967, rs121908450, rs121908452, rs121908453, rs797044435, rs121908454, rs121908455, rs121908456, rs797044436, rs797044437, rs137853324, rs137853325, rs137853326, rs137853327, rs137853328, rs137853329, rs1569556603, rs2147483647, rs137853330, rs28933100, rs121913665, rs387907197, rs386134238, rs386134240, rs782540538, rs398122913, rs398122377, rs179363867, rs1565766888, rs747806672, rs879255553, rs886039564, rs886041005, rs766500689, rs886041411, rs782178147, rs1057519508, rs1057524917, rs139455627, rs1060499610, rs1553445945, rs1553448320, rs557166582, rs1569151872, rs1555916009, rs1566591076, rs1566591086, rs1566591082, rs1558814135, rs773885029, rs1590674994, rs1575653629, rs1575647025, rs781890406, rs749688157
Isolated congenital adermatoglyphia Isolated congenital adermatoglyphia rs1057519613, rs1114167276, rs1114167277
Keratoderma with scleroatrophy of the extremities Keratoderma with scleroatrophy of the extremities rs1114167276, rs1560542180, rs1560542214 29409814
Unknown
Disease name Disease term dbSNP ID References
Abnormal dermatoglyphic pattern Abnormal dermatoglyphic pattern
Amniotic bands Amniotic Bands
Congenital palmoplantar keratodermia Congenital palmoplantar keratodermia
Huriez syndrome Huriez syndrome

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