Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
56916
Gene name Gene Name - the full gene name approved by the HGNC.
SNF2 related chromatin remodeling ATPase with DExD box 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SMARCAD1
Synonyms (NCBI Gene) Gene synonyms aliases
ADERM, BASNS, ETL1, HEL1, HRZ, TYS
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ADERM, ETL1, HRZ
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q22.3
Summary Summary 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
SNPs SNP information provided by dbSNP.
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.
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.
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 IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
612761 18398 ENSG00000163104
Protein
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
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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name 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
View all (42 more)
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 term Disease name Evidence References Source
Ectodermal Dysplasia ectodermal dysplasia syndrome GenCC
Diabetes Diabetes GWAS
Uterine Fibroids Uterine Fibroids GWAS
Schizophrenia Schizophrenia GWAS
Associations from Text Mining
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