RECQL4
entrez
9401
canonical
uniprot
O94761
canonical
ensembl
ENSG00000160957
resolver
ensp
ENSP00000482313
resolver
ensp
ENSP00000483145
resolver
ensp
ENSP00000558036
resolver
ensp
ENSP00000592146
resolver
enst
ENST00000617875
resolver
enst
ENST00000621189
resolver
genesymbol
RECQL4
resolver
genesymbol_syn
RECQ4
resolver
hgnc
HGNC:9949
resolver
uniprot
A0A087WZ30
resolver
uniprot
A0A087X072
resolver
uniprot
Q3Y424
resolver
uniprot
Q96DW2
resolver
uniprot
Q96F55
resolver
uniprot_entry
A0A087X072_HUMAN
resolver
uniprot_entry
RECQ4_HUMAN
resolver
uniprot_sec
A0A087WZ30
resolver
uniprot_sec
Q3Y424
resolver
uniprot_sec
Q96DW2
resolver
uniprot_sec
Q96F55
resolver
amino_acid_sequence
MERLRDVRERLQAWERAFRRQRGRRPSQDDVEAAPEETRALYREYRTLKRTTGQAGGGLRSSESLPAAAEEAPEPRCWGPHLNRAATKSPQSTPGRSRQGSVPDYGQRLKANLKGTLQAGPALGRRPWPLGRASSKASTPKPPGTGPVPSFAEKVSDEPPQLPEPQPRPGRLQHLQASLSQRLGSLDPGWLQRCHSEVPDFLGAPKACRPDLGSEESQLLIPGESAVLGPGAGSQGPEASAFQEVSIRVGSPQPSSSGGEKRRWNEEPWESPAQVQQESSQAGPPSEGAGAVAVEEDPPGEPVQAQPPQPCSSPSNPRYHGLSPSSQARAGKAEGTAPLHIFPRLARHDRGNYVRLNMKQKHYVRGRALRSRLLRKQAWKQKWRKKGECFGGGGATVTTKESCFLNEQFDHWAAQCPRPASEEDTDAVGPEPLVPSPQPVPEVPSLDPTVLPLYSLGPSGQLAETPAEVFQALEQLGHQAFRPGQERAVMRILSGISTLLVLPTGAGKSLCYQLPALLYSRRSPCLTLVVSPLLSLMDDQVSGLPPCLKAACIHSGMTRKQRESVLQKIRAAQVHVLMLTPEALVGAGGLPPAAQLPPVAFACIDEAHCLSQWSHNFRPCYLRVCKVLRERMGVHCFLGLTATATRRTASDVAQHLAVAEEPDLHGPAPVPTNLHLSVSMDRDTDQALLTLLQGKRFQNLDSIIIYCNRREDTERIAALLRTCLHAAWVPGSGGRAPKTTAEAYHAGMCSRERRRVQRAFMQGQLRVVVATVAFGMGLDRPDVRAVLHLGLPPSFESYVQAVGRAGRDGQPAHCHLFLQPQGEDLRELRRHVHADSTDFLAVKRLVQRVFPACTCTCTRPPSEQEGAVGGERPVPKYPPQEAEQLSHQAAPGPRRVCMGHERALPIQLTVQALDMPEEAIETLLCYLELHPHHWLELLATTYTHCRLNCPGGPAQLQALAHRCPPLAVCLAQQLPEDPGQGSSSVEFDMVKLVDSMGWELASVRRALCQLQWDHEPRTGVRRGTGVLVEFSELAFHLRSPGDLTAEEKDQICDFLYGRVQARERQALARLRRTFQAFHSVAFPSCGPCLEQQDEERSTRLKDLLGRYFEEEEGQEPGGMEDAQGPEPGQARLQDWEDQVRCDIRQFLSLRPEEKFSSRAVARIFHGIGSPCYPAQVYGQDRRFWRKYLHLSFHALVGLATEELLQVAR
uniprot
proteins
disease_involvement
DISEASE: RAPADILINO syndrome (RAPADILINOS) [MIM:266280]: Disease characterized by radial and patellar aplasia or hypoplasia. {ECO:0000269|PubMed:12952869}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Baller-Gerold syndrome (BGS) [MIM:218600]: An autosomal recessive syndrome characterized by short stature, craniosynostosis, absent or hypoplastic radii, short and curved ulna, fused carpal bones and absent carpals, metacarpals and phalanges. Some patients manifest poikiloderma. Cases reported as Baller-Gerold syndrome have phenotypic overlap with several other disorders, including Saethre-Chotzen syndrome. {ECO:0000269|PubMed:15964893}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Rothmund-Thomson syndrome 2 (RTS2) [MIM:268400]: A form of Rothmund-Thomson syndrome, a disorder characterized by sparse hair, eyebrows and eyelashes, juvenile cataracts, and poikiloderma, a genodermatosis presenting with mottled pigmentation, telangiectasia and epidermal atrophy. Additional features are short stature, dysplastic nails, and skeletal and dental abnormalities. RTS2 is an autosomal recessive form frequently accompanied by an increased risk of osteosarcoma in childhood and skin cancer later in life. {ECO:0000269|PubMed:10319867, ECO:0000269|PubMed:10678659, ECO:0000269|PubMed:12734318, ECO:0000269|PubMed:20503338}. 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: An ATP-dependent DNA helicase which unwinds dsDNA with a 3'-overhang in a 3'-5' direction (PubMed:28653661). Does not unwind more than 18 bp of dsDNA (PubMed:28653661). May modulate chromosome segregation. The N-terminal domain (residues 1-54) binds DNA Y-shaped DNA better than ss- or dsDNA (PubMed:22730300). The core helicase domain binds ssDNA (PubMed:22730300, PubMed:28653661). {ECO:0000269|PubMed:15317757, ECO:0000269|PubMed:22730300, ECO:0000269|PubMed:28653661}.
uniprot
proteins
mass_dalton
133067
uniprot
proteins
mutagenesis
MUTAGEN 508; /note="K->A: No helicase activity (in a fragment of residues 427-1208)."; /evidence="ECO:0000269|PubMed:28653661"; MUTAGEN 605; /note="D->A: No helicase activity (in a fragment of residues 427-1208)."; /evidence="ECO:0000269|PubMed:28653661"; MUTAGEN 618; /note="R->L: Loss of helicase activity, 20% ATPase activity (in a fragment of residues 427-1208)."; /evidence="ECO:0000269|PubMed:28653661"; MUTAGEN 944..1032; /note="Missing: About 50% reduction in helicase velocity (in a fragment of residues 427-1208)."; /evidence="ECO:0000269|PubMed:28653661"; MUTAGEN 1117..1208; /note="Missing: Decreases helicase activity 5-fold, decreased ssDNA-binding (in a fragment of residues 427-1208)."; /evidence="ECO:0000269|PubMed:28653661
uniprot
proteins
protein_family
Helicase family
uniprot
proteins
protein_family
RecQ subfamily
uniprot
proteins
pubmed
10319867
uniprot
proteins
pubmed
10552928
uniprot
proteins
pubmed
10678659
uniprot
proteins
pubmed
11032027
uniprot
proteins
pubmed
12601557
uniprot
proteins
pubmed
12734318
uniprot
proteins
pubmed
12952869
uniprot
proteins
pubmed
15221963
uniprot
proteins
pubmed
15317757
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15964893
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
19696745
uniprot
proteins
pubmed
20503338
uniprot
proteins
pubmed
22730300
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
28653661
uniprot
proteins
pubmed
9878247
uniprot
proteins
sequence_length
1208
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15317757}. Nucleus {ECO:0000269|PubMed:10552928}.
uniprot
proteins