Protein basic information
| LiverAtlas Protein ID |
HuLPr45769 |
|
Uniprot ID |
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Uniprot Acc |
Q9NZC9;A6NEH0;Q53R00;Q96AY1;Q9NXQ5;Q9UFH3;Q9UI93; |
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Protein name |
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1 |
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Comment |
FUNCTION:ATP-dependent annealing helicase that catalyzes the rewinding of the stably unwound DNA. Rewinds single-stranded DNA bubbles that are stably bound by replication protein A (RPA). Acts throughout the genome to reanneal stably unwound DNA, performing the opposite reaction of many enzymes, such as helicases and polymerases, that unwind DNA.||SUBCELLULAR LOCATION:Nucleus (By similarity).||TISSUE SPECIFICITY:Ubiquitously expressed, with high levels in testis.||DISEASE:Defects in SMARCAL1 are a cause of Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]. SIOD causes spondyloepiphyseal dysplasia, renal dysfunction and T-cell immunodeficiency. Approximately half of all patients also exhibit hyperthyroidism, while around half also exhibit episodal cerebral ischema.||SIMILARITY:Belongs to the SNF2/RAD54 helicase family. SMARCAL1 subfamily.||SIMILARITY:Contains 2 HARP domains.||SIMILARITY:Contains 1 helicase ATP-binding domain.||SIMILARITY:Contains 1 helicase C-terminal domain.||SEQUEN |
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Subcellular localization |
Nucleus(By similarity). |
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Gene name |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 |
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Protein sequence
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MSLPLTEEQRKKIEENRQKALARRAEKLLAEQHQRTSSGT SIAGNPFQAKQGPSQNFPRESCKPVSHGVIFKQQNLSSS SNADQRPHDSHSFQAKGIWKKPEEMPTACPGHSPRSQMA LTGISPPLAQSPPEVPKQQLLSYELGQGHAQASPEIRFT PFANPTHKPLAKPKSSQETPAHSSGQPPRDAKLEAKTAK ASPSGQNISYIHSSSESVTPRTEGRLQQKSGSSVQKGVN SQKGKCVRNGDRFQVLIGYNAELIAVFKTLPSKNYDPDT KTWNFSMNDYSALMKAAQSLPTVNLQPLEWAYGSSESPS TSSEGQAGLPSAPSLSFVKGRCMLISRAYFEADISYSQD LIALFKQMDSRRYDVKTRKWSFLLEEHSKLIAKVRCLPQ VQLDPLPTTLTLAFASQLKKTSLSLTPDVPEADLSEVDP KLVSNLMPFQRAGVNFAIAKGGRLLLADDMGLGKTIQAI CIAAFYRKEWPLLVVVPSSVRFTWEQAFLRWLPSLSPDC INVVVTGKDRLTAGLINIVSFDLLSKLEKQLKTPFKVVI IDESHFLKNSRTARCRAAMPVLKVAKRVILLSGTPAMSR PAELYTQIIAVKPTFFPQFHAFGLRYCDAKRMPWGWDYS GSSNLGELKLLLEEAVMLRRLKSDVLSQLPAKQRKIVVI APGRINARTRAALDAAAKEMTTKDKTKQQQKDALILFFN RTAEAKIPSVIEYILDLLESGREKFLVFAHHKVVLDAIT QELERKHVQHIRIDGSTSSAEREDLCQQFQLSERHAVAV LSITAANMGLTFSSADLVVFAELFWNPGVLIQAEDRVHR IGQTSSVGIHYLVAKGTADDYLWPLIQEKIKVLAEAGLS ETNFSEMTESTDYLYKDPKQQKIYDLFQKSFEKEGSDME LLEAAESFDPGSASGTSGSSSQNMGDTLDESSLTASPQKKRRFEFFDNWDSFTSPL |
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Database cross reference |
RefSeq Protein accession:NP_001120679
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Liver relevance
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HLPP validation |
Yes/No |
Yes |
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Project name |
Chinese Liver;Human Liver Organelles; |
Ontology annotation
| GO-C |
GO:0005634;C:nucleus;IDA:UniProtKB. |
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GO-F |
GO:0005524;F:ATP binding;IEA:UniProtKB-KW. GO:0003677;F:DNA binding;IEA:InterPro. GO:0003678;F:DNA helicase activity;IMP:UniProtKB. GO:0008094;F:DNA-dependent ATPase activity;IMP:UniProtKB. |
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GO-P |
GO:0016568;P:chromatin modification;IEA:InterPro. GO:0006259;P:DNA metabolic process;IMP:UniProtKB. GO:0006357;P:regulation of transcription from RNA polymerase II promoter;IMP:UniProtKB. |
Post-translational modification
| LiverAtlas Protein ID |
MOD type1 |
Position1 |
Residue1 |
Source name1 |
source ID1 |
Source method |
HLPP validation1 (Yes/no) |
Quality score |
|
HuLPr45769 |
PHOSPHORYLATION |
198 |
S |
Phospho-ELM |
HTP |
N |
 
|
|
|
HuLPr45769 |
PHOSPHORYLATION |
151 |
S |
PhosphoSitePlus |
HTP |
N |
|
|
|
HuLPr45769 |
PHOSPHORYLATION |
872 |
Y |
PhosphoSitePlus |
HTP |
N |
|
|
|
HuLPr45769 |
PHOSPHORYLATION |
874 |
Y |
PhosphoSitePlus |
LTP |
N |
|
|
|
HuLPr45769 |
PHOSPHORYLATION |
172 |
S |
PhosphoSitePlus |
HTP |
N |
|
|
|
HuLPr45769 |
PHOSPHORYLATION |
181 |
S |
PhosphoSitePlus |
HTP |
N |
|
Pathway
| Pathway name |
