RECQL
entrez
5965
canonical
uniprot
P46063
canonical
ensembl
ENSG00000004700
resolver
ensp
ENSP00000395449
resolver
ensp
ENSP00000416739
resolver
ensp
ENSP00000557766
resolver
ensp
ENSP00000557768
resolver
ensp
ENSP00000557769
resolver
ensp
ENSP00000635080
resolver
ensp
ENSP00000635081
resolver
enst
ENST00000421138
resolver
enst
ENST00000444129
resolver
enst
ENST00000887707
resolver
enst
ENST00000887709
resolver
enst
ENST00000887710
resolver
enst
ENST00000965022
resolver
genesymbol
RECQL
resolver
genesymbol_syn
RECQ1
resolver
genesymbol_syn
RECQL1
resolver
hgnc
HGNC:9948
resolver
uniprot
A8K6G2
resolver
uniprot_entry
RECQ1_HUMAN
resolver
uniprot_sec
A8K6G2
resolver
amino_acid_sequence
MASVSALTEELDSITSELHAVEIQIQELTERQQELIQKKKVLTKKIKQCLEDSDAGASNEYDSSPAAWNKEDFPWSGKVKDILQNVFKLEKFRPLQLETINVTMAGKEVFLVMPTGGGKSLCYQLPALCSDGFTLVICPLISLMEDQLMVLKQLGISATMLNASSSKEHVKWVHAEMVNKNSELKLIYVTPEKIAKSKMFMSRLEKAYEARRFTRIAVDEVHCCSQWGHDFRPDYKALGILKRQFPNASLIGLTATATNHVLTDAQKILCIEKCFTFTASFNRPNLYYEVRQKPSNTEDFIEDIVKLINGRYKGQSGIIYCFSQKDSEQVTVSLQNLGIHAGAYHANLEPEDKTTVHRKWSANEIQVVVATVAFGMGIDKPDVRFVIHHSMSKSMENYYQESGRAGRDDMKADCILYYGFGDIFRISSMVVMENVGQQKLYEMVSYCQNISKCRRVLMAQHFDEVWNSEACNKMCDNCCKDSAFERKNITEYCRDLIKILKQAEELNEKLTPLKLIDSWMGKGAAKLRVAGVVAPTLPREDLEKIIAHFLIQQYLKEDYSFTAYATISYLKIGPKANLLNNEAHAITMQVTKSTQNSFRAESSQTCHSEQGDKKMEEKNSGNFQKKAANMLQQSGSKNTGAKKRKIDDA
uniprot
proteins
disease_involvement
DISEASE: RECON progeroid syndrome (RECON) [MIM:620370]: An autosomal recessive syndrome characterized by short stature, progeroid facial features, a hypoplastic nose, xeroderma, skin photosensitivity, muscle wasting with reduced subcutaneous fat, and slender elongated thumbs. {ECO:0000269|PubMed:35025765}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
5.6.2.4
uniprot
proteins
function
FUNCTION: DNA helicase that plays a role in DNA damage repair and genome stability (PubMed:15886194, PubMed:35025765, PubMed:7527136, PubMed:7961977, PubMed:8056767). Exhibits a Mg(2+)- and ATP-dependent DNA-helicase activity that unwinds single- and double-stranded DNA in a 3'-5' direction (PubMed:19151156, PubMed:35025765, PubMed:7527136, PubMed:8056767). Full-length protein unwinds forked DNA substrates, resolves Holliday junctions, and has DNA strand annealing activity (PubMed:19151156, PubMed:25831490). Plays a role in restoring regressed replication forks (PubMed:35025765). Required to restart stalled replication forks induced by abortive topoisomerase 1 and 2 lesions (PubMed:35025765). Does not unwind G-quadruplex DNA (PubMed:18426915). May play a role in the repair of DNA that is damaged by ultraviolet light or other mutagens (PubMed:15886194, PubMed:7961977). {ECO:0000269|PubMed:15886194, ECO:0000269|PubMed:18426915, ECO:0000269|PubMed:19151156, ECO:0000269|PubMed:25831490, ECO:0000269|PubMed:35025765, ECO:0000269|PubMed:7527136, ECO:0000269|PubMed:7961977, ECO:0000269|PubMed:8056767}.
uniprot
proteins
mass_dalton
73457
uniprot
proteins
mutagenesis
MUTAGEN 119; /note="K->A: Abrogates helicase activity."; /evidence="ECO:0000269|PubMed:15886194"; MUTAGEN 511..514; /note="TPLK->APLA: Considerably reduced DNA unwinding and branch migration on Holliday junctions, small change in DNA annealing."; /evidence="ECO:0000269|PubMed:25831490"; MUTAGEN 528; /note="R->A: Reduced DNA unwinding and branch migration on Holliday junctions, small change in DNA annealing."; /evidence="ECO:0000269|PubMed:25831490"; MUTAGEN 555..572; /note="LKEDYSFTAYATISYLKI->AA: Complete loss of DNA fork unwinding, retains ATPase activity (in a 49-616 residue fragment)."; /evidence="ECO:0000269|PubMed:19151156"; MUTAGEN 560..567; /note="SFTAYATI->AA: Complete loss of DNA fork unwinding, retains ATPase activity (in a 49-616 residue fragment)."; /evidence="ECO:0000269|PubMed:19151156"; MUTAGEN 564; /note="Y->A: Nearly complete loss of DNA fork unwinding, retains ATPase activity (in a 49-616 residue fragment)."; /evidence="ECO:0000269|PubMed:19151156
uniprot
proteins
protein_family
Helicase family
uniprot
proteins
protein_family
RecQ subfamily
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15886194
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
18426915
uniprot
proteins
pubmed
19151156
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25831490
uniprot
proteins
pubmed
35025765
uniprot
proteins
pubmed
7527136
uniprot
proteins
pubmed
7961977
uniprot
proteins
pubmed
8056767
uniprot
proteins
sequence_length
649
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:35025765, ECO:0000269|PubMed:7961977}.
uniprot
proteins