SMARCAL1
entrez
50485
canonical
uniprot
Q9NZC9
canonical
ensembl
ENSG00000138375
resolver
ensp
ENSP00000349823
resolver
ensp
ENSP00000350940
resolver
ensp
ENSP00000394410
resolver
ensp
ENSP00000398969
resolver
ensp
ENSP00000405077
resolver
ensp
ENSP00000530417
resolver
ensp
ENSP00000530418
resolver
ensp
ENSP00000626083
resolver
enst
ENST00000357276
resolver
enst
ENST00000358207
resolver
enst
ENST00000425815
resolver
enst
ENST00000430374
resolver
enst
ENST00000444508
resolver
enst
ENST00000860358
resolver
enst
ENST00000860359
resolver
enst
ENST00000956024
resolver
genesymbol
SMARCAL1
resolver
genesymbol_syn
HARP
resolver
hgnc
HGNC:11102
resolver
uniprot
A6NEH0
resolver
uniprot
Q53R00
resolver
uniprot
Q96AY1
resolver
uniprot
Q9NXQ5
resolver
uniprot
Q9UFH3
resolver
uniprot
Q9UI93
resolver
uniprot_entry
SMAL1_HUMAN
resolver
uniprot_sec
A6NEH0
resolver
uniprot_sec
Q53R00
resolver
uniprot_sec
Q96AY1
resolver
uniprot_sec
Q9NXQ5
resolver
uniprot_sec
Q9UFH3
resolver
uniprot_sec
Q9UI93
resolver
amino_acid_sequence
MSLPLTEEQRKKIEENRQKALARRAEKLLAEQHQRTSSGTSIAGNPFQAKQGPSQNFPRESCKPVSHGVIFKQQNLSSSSNADQRPHDSHSFQAKGIWKKPEEMPTACPGHSPRSQMALTGISPPLAQSPPEVPKQQLLSYELGQGHAQASPEIRFTPFANPTHKPLAKPKSSQETPAHSSGQPPRDAKLEAKTAKASPSGQNISYIHSSSESVTPRTEGRLQQKSGSSVQKGVNSQKGKCVRNGDRFQVLIGYNAELIAVFKTLPSKNYDPDTKTWNFSMNDYSALMKAAQSLPTVNLQPLEWAYGSSESPSTSSEGQAGLPSAPSLSFVKGRCMLISRAYFEADISYSQDLIALFKQMDSRRYDVKTRKWSFLLEEHSKLIAKVRCLPQVQLDPLPTTLTLAFASQLKKTSLSLTPDVPEADLSEVDPKLVSNLMPFQRAGVNFAIAKGGRLLLADDMGLGKTIQAICIAAFYRKEWPLLVVVPSSVRFTWEQAFLRWLPSLSPDCINVVVTGKDRLTAGLINIVSFDLLSKLEKQLKTPFKVVIIDESHFLKNSRTARCRAAMPVLKVAKRVILLSGTPAMSRPAELYTQIIAVKPTFFPQFHAFGLRYCDAKRMPWGWDYSGSSNLGELKLLLEEAVMLRRLKSDVLSQLPAKQRKIVVIAPGRINARTRAALDAAAKEMTTKDKTKQQQKDALILFFNRTAEAKIPSVIEYILDLLESGREKFLVFAHHKVVLDAITQELERKHVQHIRIDGSTSSAEREDLCQQFQLSERHAVAVLSITAANMGLTFSSADLVVFAELFWNPGVLIQAEDRVHRIGQTSSVGIHYLVAKGTADDYLWPLIQEKIKVLAEAGLSETNFSEMTESTDYLYKDPKQQKIYDLFQKSFEKEGSDMELLEAAESFDPGSASGTSGSSSQNMGDTLDESSLTASPQKKRRFEFFDNWDSFTSPL
uniprot
proteins
disease_involvement
DISEASE: Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]: An autosomal recessive pleiotropic disorder characterized by spondyloepiphyseal dysplasia, renal dysfunction and immunodeficiency. Arteriosclerosis may also occur in some case. {ECO:0000269|PubMed:11799392, ECO:0000269|PubMed:18805831, ECO:0000269|PubMed:18974355, ECO:0000269|PubMed:19793862}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.6.4.-
uniprot
proteins
ec_number
5.6.2.-
uniprot
proteins
function
FUNCTION: ATP-dependent annealing helicase that binds selectively to fork DNA relative to ssDNA or dsDNA and 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. May play an important role in DNA damage response by acting at stalled replication forks. {ECO:0000269|PubMed:18805831, ECO:0000269|PubMed:18974355, ECO:0000269|PubMed:19793861, ECO:0000269|PubMed:19793862}.
uniprot
proteins
mass_dalton
105938
uniprot
proteins
mutagenesis
MUTAGEN 5; /note="L->A: Decreases interaction with RPA2."; /evidence="ECO:0000269|PubMed:24910198"; MUTAGEN 9; /note="Q->A: Decreases interaction with RPA2."; /evidence="ECO:0000269|PubMed:24910198"; MUTAGEN 12..13; /note="KI->AA: Decreases interaction with RPA2."; /evidence="ECO:0000269|PubMed:24910198"; MUTAGEN 16..17; /note="NR->AA: Decreases interaction with RPA2."; /evidence="ECO:0000269|PubMed:24910198"; MUTAGEN 17..19; /note="RQK->AAA: Loss of interaction with RPA2 and impaired recruitment by the RPA complex to sites of DNA damage."; /evidence="ECO:0000269|PubMed:19793862, ECO:0000269|PubMed:24910198"; MUTAGEN 20..21; /note="AL->SS: Decreases interaction with RPA2."; /evidence="ECO:0000269|PubMed:24910198"; MUTAGEN 23..24; /note="RR->AA: Decreases interaction with RPA2."; /evidence="ECO:0000269|PubMed:24910198"; MUTAGEN 27; /note="K->A: Decreases interaction with RPA2."; /evidence="ECO:0000269|PubMed:24910198
uniprot
proteins
post_translational_modification
PTM: DNA damage-regulated phosphorylation by kinases that may include ATM, ATR and PRKDC. {ECO:0000269|PubMed:19793861}.
uniprot
proteins
protein_family
SMARCAL1 subfamily
uniprot
proteins
protein_family
SNF2/RAD54 helicase family
uniprot
proteins
pubmed
10857751
uniprot
proteins
pubmed
11799392
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18805831
uniprot
proteins
pubmed
18974355
uniprot
proteins
pubmed
19793861
uniprot
proteins
pubmed
19793862
uniprot
proteins
pubmed
19793863
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24910198
uniprot
proteins
sequence_length
954
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18805831, ECO:0000269|PubMed:19793862, ECO:0000269|PubMed:19793863}. Note=Recruited to damaged DNA regions. {ECO:0000269|PubMed:18805831, ECO:0000269|PubMed:19793862, ECO:0000269|PubMed:19793863}.
uniprot
proteins