• Gene id: 50485

Gene Summary

• Gene Symbol: SMARCAL1   Gene   UCSC   Ensembl
• Aliases: HARP, HHARP
• Gene name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1
• Alternate names: SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1, ATP-driven annealing helicase, HepA-related protein, SMARCA-like protein 1, sucrose nonfermenting protein 2-like 1,
• Gene location: 2q35 (216412483: 216483052)     Exons: 14     NC_000002.12
• Gene summary(Entrez): The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. T
• OMIM: 606622

Protein Summary

• Protein general information: Q9NZC9  
  • Name: SWI/SNF related matrix associated actin dependent regulator of chromatin subfamily A like protein 1 (EC 3.6.4. ) (HepA related protein) (hHARP) (Sucrose nonfermenting protein 2 like 1)
  • Length: 954  
  • Mass: 105938
  • Tissue specificity: Ubiquitously expressed, with high levels in testis. {ECO
• Sequence:

  MSLPLTEEQRKKIEENRQKALARRAEKLLAEQHQRTSSGTSIAGNPFQAKQGPSQNFPRESCKPVSHGVIFKQQN
  LSSSSNADQRPHDSHSFQAKGIWKKPEEMPTACPGHSPRSQMALTGISPPLAQSPPEVPKQQLLSYELGQGHAQA
  SPEIRFTPFANPTHKPLAKPKSSQETPAHSSGQPPRDAKLEAKTAKASPSGQNISYIHSSSESVTPRTEGRLQQK
  SGSSVQKGVNSQKGKCVRNGDRFQVLIGYNAELIAVFKTLPSKNYDPDTKTWNFSMNDYSALMKAAQSLPTVNLQ
  PLEWAYGSSESPSTSSEGQAGLPSAPSLSFVKGRCMLISRAYFEADISYSQDLIALFKQMDSRRYDVKTRKWSFL
  LEEHSKLIAKVRCLPQVQLDPLPTTLTLAFASQLKKTSLSLTPDVPEADLSEVDPKLVSNLMPFQRAGVNFAIAK
  GGRLLLADDMGLGKTIQAICIAAFYRKEWPLLVVVPSSVRFTWEQAFLRWLPSLSPDCINVVVTGKDRLTAGLIN
  IVSFDLLSKLEKQLKTPFKVVIIDESHFLKNSRTARCRAAMPVLKVAKRVILLSGTPAMSRPAELYTQIIAVKPT
  FFPQFHAFGLRYCDAKRMPWGWDYSGSSNLGELKLLLEEAVMLRRLKSDVLSQLPAKQRKIVVIAPGRINARTRA
  ALDAAAKEMTTKDKTKQQQKDALILFFNRTAEAKIPSVIEYILDLLESGREKFLVFAHHKVVLDAITQELERKHV
  QHIRIDGSTSSAEREDLCQQFQLSERHAVAVLSITAANMGLTFSSADLVVFAELFWNPGVLIQAEDRVHRIGQTS
  SVGIHYLVAKGTADDYLWPLIQEKIKVLAEAGLSETNFSEMTESTDYLYKDPKQQKIYDLFQKSFEKEGSDMELL
  EAAESFDPGSASGTSGSSSQNMGDTLDESSLTASPQKKRRFEFFDNWDSFTSPL

• Structural information:
  • Protein Domains: (226..30-)
    (/note="HARP-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00800-)
    (327..39-)
    (/note="HARP-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00800-)
    (445..60-)
    (/note="Helicase-ATP-binding)
    (/evidence="ECO:0000255|PROSITE-ProRu-)
  • Interpro: IPR030101  IPR010003  IPR014001  IPR001650  IPR027417   IPR038718  IPR000330  
  • Prosite: PS51467 PS51192 PS51194
  • PDB: 4MQV
  • PDBsum: 4MQV
  • STRING: ENSP00000349823
• Other Databases: GeneCards:  SMARCAL1  Malacards:  SMARCAL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006303	double-strand break repair via nonhomologous end joining	IMP	biological process
GO:0048478	replication fork protection	IBA	biological process
GO:0043596	nuclear replication fork	IBA	cellular component
GO:0036292	DNA rewinding	IBA	biological process
GO:0031297	replication fork processing	IBA	biological process
GO:0008094	DNA-dependent ATPase activity	IBA	molecular function
GO:0006281	DNA repair	IBA	biological process
GO:0003678	DNA helicase activity	IBA	molecular function
GO:0036310	annealing helicase activity	IBA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IBA	biological process
GO:0005662	DNA replication factor A complex	IBA	colocalizes with
GO:0005634	nucleus	IBA	cellular component
GO:0036310	annealing helicase activity	IDA	molecular function
GO:0035861	site of double-strand break	IDA	cellular component
GO:0035861	site of double-strand break	IDA	cellular component
GO:0005662	DNA replication factor A complex	IDA	colocalizes with
GO:0005662	DNA replication factor A complex	IDA	colocalizes with
GO:0031297	replication fork processing	IMP	biological process
GO:0036310	annealing helicase activity	IMP	molecular function
GO:0006974	cellular response to DNA damage stimulus	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0031297	replication fork processing	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0036310	annealing helicase activity	IEA	molecular function
GO:0004386	helicase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008094	DNA-dependent ATPase activity	IEA	molecular function
GO:0090656	t-circle formation	TAS	biological process
GO:0031297	replication fork processing	TAS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000733	DNA strand renaturation	IEA	biological process
GO:0000733	DNA strand renaturation	IEA	biological process
GO:0000733	DNA strand renaturation	IEA	biological process
GO:0000733	DNA strand renaturation	IEA	biological process
GO:0032508	DNA duplex unwinding	IEA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	IMP	biological process
GO:0006259	DNA metabolic process	IMP	biological process
GO:0008094	DNA-dependent ATPase activity	IMP	molecular function

Diseases

Associated diseases	References
Schimke immunoosseous dysplasia	KEGG:H00580
Schimke immunoosseous dysplasia	KEGG:H00580
Schimke immuno-osseous dysplasia	PMID:11799392
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R