• Gene id: 56916

Gene Summary

• Gene Symbol: SMARCAD1   Gene   UCSC   Ensembl
• Aliases: ADERM, BASNS, ETL1, HEL1, HRZ
• Gene name: SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
• Alternate names: SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1, ATP-dependent helicase 1,
• Gene location: 4q22.3 (94207607: 94291291)     Exons: 30     NC_000004.12
• Gene summary(Entrez): 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

Protein Summary

• Protein general information: Q9H4L7  
  • Name: SWI/SNF related matrix associated actin dependent regulator of chromatin subfamily A containing DEAD/H box 1 (EC 3.6.4.12) (ATP dependent helicase 1) (hHEL1)
  • Length: 1026  
  • Mass: 117402
  • 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
• Sequence:

  MNLFNLDRFRFEKRNKIEEAPEATPQPSQPGPSSPISLSAEEENAEGEVSRANTPDSDITEKTEDSSVPETPDNE
  RKASISYFKNQRGIQYIDLSSDSEDVVSPNCSNTVQEKTFNKDTVIIVSEPSEDEESQGLPTMARRNDDISELED
  LSELEDLKDAKLQTLKELFPQRSDNDLLKLIESTSTMDGAIAAALLMFGDAGGGPRKRKLSSSSEPYEEDEFNDD
  QSIKKTRLDHGEESNESAESSSNWEKQESIVLKLQKEFPNFDKQELREVLKEHEWMYTEALESLKVFAEDQDMQY
  VSQSEVPNGKEVSSRSQNYPKNATKTKLKQKFSMKAQNGFNKKRKKNVFNPKRVVEDSEYDSGSDVGSSLDEDYS
  SGEEVMEDGYKGKILHFLQDASIGELTLIPQCSQKKAQKITELRPFNSWEALFTKMSKTNGLSEDLIWHCKTLIQ
  ERDVVIRLMNKCEDISNKLTKQVTMLTGNGGGWNIEQPSILNQSLSLKPYQKVGLNWLALVHKHGLNGILADEMG
  LGKTIQAIAFLAYLYQEGNNGPHLIVVPASTIDNWLREVNLWCPTLKVLCYYGSQEERKQIRFNIHSRYEDYNVI
  VTTYNCAISSSDDRSLFRRLKLNYAIFDEGHMLKNMGSIRYQHLMTINANNRLLLTGTPVQNNLLELMSLLNFVM
  PHMFSSSTSEIRRMFSSKTKSADEQSIYEKERIAHAKQIIKPFILRRVKEEVLKQLPPKKDRIELCAMSEKQEQL
  YLGLFNRLKKSINNLEKNTEMCNVMMQLRKMANHPLLHRQYYTAEKLKEMSQLMLKEPTHCEANPDLIFEDMEVM
  TDFELHVLCKQYRHINNFQLDMDLILDSGKFRVLGCILSELKQKGDRVVLFSQFTMMLDILEVLLKHHQHRYLRL
  DGKTQISERIHLIDEFNTDMDIFVFLLSTKAGGLGINLTSANVVILHDIDCNPYNDKQAEDRCHRVGQTKEVLVI
  KLISQGTIEESMLKINQQKLKLEQDMTTVDEGDEGSMPADIATLLKTSMGL

• Structural information:
  • Protein Domains: (157..19-)
    (/note="CUE-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00468-)
    (251..29-)
    (/note="CUE-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00468-)
    (509..67-)
    (/note="Helicase-ATP-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule-)
  • Interpro: IPR003892  IPR014001  IPR001650  IPR027417  IPR038718   IPR000330  
  • Prosite: PS51140 PS51192 PS51194
  • PDB: 6H3A 6QU1
  • PDBsum: 6H3A 6QU1
  • STRING: ENSP00000351947
• Other Databases: GeneCards:  SMARCAD1  Malacards:  SMARCAD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003682	chromatin binding	IBA	molecular function
GO:0008094	DNA-dependent ATPase activity	IBA	molecular function
GO:0003677	DNA binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0043044	ATP-dependent chromatin remodeling	IBA	biological process
GO:0043596	nuclear replication fork	IDA	cellular component
GO:0035861	site of double-strand break	IDA	cellular component
GO:0003677	DNA binding	IDA	molecular function
GO:0000792	heterochromatin	ISS	cellular component
GO:0070933	histone H4 deacetylation	IMP	biological process
GO:0070932	histone H3 deacetylation	IMP	biological process
GO:0051304	chromosome separation	IMP	biological process
GO:0043044	ATP-dependent chromatin remodeling	IMP	biological process
GO:0006338	chromatin remodeling	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000729	DNA double-strand break processing	IMP	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0006325	chromatin organization	IEA	biological process
GO:0004386	helicase activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003678	DNA helicase activity	IEA	molecular function
GO:0000792	heterochromatin	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0032508	DNA duplex unwinding	IEA	biological process
GO:0000018	regulation of DNA recombination	IEP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04550	Signaling pathways regulating pluripotency of stem cells

Diseases

Associated diseases	References
Adermatoglyphia	KEGG:H02295
Basan syndrome	KEGG:H02296
Adermatoglyphia	KEGG:H02295
Basan syndrome	KEGG:H02296
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq