Gene Gene information from NCBI Gene database.
Entrez ID 56916
Gene name SNF2 related chromatin remodeling ATPase with DExD box 1
Gene symbol SMARCAD1
Synonyms (NCBI Gene)
ADERMBASNSETL1HEL1HRZTYS
Chromosome 4
Chromosome location 4q22.3
Summary 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
SNPs SNP information provided by dbSNP.
6
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
miRNA miRNA information provided by mirtarbase database.
375
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
GO ID Ontology Definition Evidence Reference
GO:0000018 Process Regulation of DNA recombination IEP 11031099
GO:0000166 Function Nucleotide binding IEA
GO:0000729 Process DNA double-strand break processing IBA
GO:0000729 Process DNA double-strand break processing IMP 22960744
GO:0000785 Component Chromatin IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612761 18398 ENSG00000163104
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Tissue specificity TISSUE SPECIFICITY: Isoform 1 is expressed ubiquitously. Isoform 3 is expressed mainly in skin and esophagus. Expressed in fibroblasts and keratinocytes (at protein level) (PubMed:29409814). {ECO:0000269|PubMed:11031099, ECO:0000269|PubMed:21820097, ECO:0
Sequence
MNLFNLDRFRFEKRNKIEEAPEATPQPSQPGPSSPISLSAEEENAEGEVSRANTPDSDIT
EKTEDSSVPETPDNERKASISYFKNQRGIQYIDLSSDSEDVVSPNCSNTVQEKTFNKDTV
IIVSEPSEDEESQGLPTMARRNDDISELEDLSELEDLKDAKLQTLKELFPQRSDNDLLKL
IESTSTMDGAIAAALLMFGDAGGGPRKRKLSSSSEPYEEDEFNDDQSIKKTRLDHGEESN
ESAESSSNWEKQESIVLKLQKEFPNFDKQELREVLKEHEWMYTEALESLKVFAEDQDMQY
VSQSEVPNGKEVSSRSQNYPKNATKTKLKQKFSMKAQNGFNKKRKKNVFNPKRVVEDSEY
DSGSDVGSSLDEDYSSGEEVMEDGYKGKILHFLQDASIGELTLIPQCSQKKAQKITELRP
FNSWEALFTKMSKTNGLSEDLIWHCKTLIQERDVVIRLMNKCEDISNKLTKQVTMLTGNG
GGWNIEQPSILNQSLSLKPYQKVGLNWLALVHKHGLNGILADEMGLGKTIQAIAFLAYLY
QEGNNGPHLIVVPASTIDNWLREVNLWCPTLKVLCYYGSQEERKQIRFNIHSRYEDYNVI
VTTYNCAISSSDDRSLFRRLKLNYAIFDEGHMLKNMGSIRYQHLMTINANNRLLLTGTPV
QNNLLELMSLLNFVMPHMFSSSTSEIRRMFSSKTKSADEQSIYEKERIAHAKQIIKPFIL
RRVKEEVLKQLPPKKDRIELCAMSEKQEQLYLGLFNRLKKSINNLEKNTEMCNVMMQLRK
MANHPLLH
RQYYTAEKLKEMSQLMLKEPTHCEANPDLIFEDMEVMTDFELHVLCKQYRHI
NNFQLDMDLILDSGKFRVLGCILSELKQKGDRVVLFSQFTMMLDILEVLLKHHQHRYLRL
DGKTQISERIHLIDEFNTDMDIFVFLLSTKAGGLGINLTSANVVILHDIDCNPYNDKQAE
DRCHRVG
QTKEVLVIKLISQGTIEESMLKINQQKLKLEQDMTTVDEGDEGSMPADIATLL
KTSMGL
Sequence length 1026
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Signaling pathways regulating pluripotency of stem cells  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Adermatoglyphia Pathogenic rs1057519613, rs1114167276, rs1114167277 RCV000167533
RCV000167534
RCV000167535
RCV000023972
Basan syndrome Pathogenic rs895436485, rs1057519613 RCV000167536
RCV000417757
Keratoderma with scleroatrophy of the extremities Pathogenic; Likely pathogenic rs1114167276, rs1560542180, rs1560542214 RCV000761203
RCV000761204
RCV000761205
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Germ cell tumor of testis Benign rs10029551 RCV005937350
Hepatocellular carcinoma Benign rs2306803 RCV005921712
Malignant lymphoma, large B-cell, diffuse Benign rs10029551 RCV005937348
Neurodevelopmental disorder Uncertain significance rs1753894795 RCV001291509
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Basan syndrome Associate 26932190, 30289605, 35592705
Blister Associate 30289605
Carcinoma Squamous Cell Associate 35592705
Contracture Associate 30289605
Ectodermal Dysplasia Associate 30289605
Facial paresis hereditary congenital Associate 30289605
Fingerprints Absence of Associate 26932190, 30289605
Immunodeficiency X Linked with Deficiency of 115 000 Dalton Surface Glycoprotein Associate 26932190
Mental Disorders Associate 30289605
Nail Diseases Associate 30289605