Gene: Recql5

Basic information

Tag Content
Uniprot ID Q8VID5; Q8BQD7; Q8C7T6; Q8VID3;
Entrez ID 170472
Genbank protein ID BAC34479.1; BAC33647.1; BAB79233.1; EDL34531.1; BAB79232.1;
Genbank nucleotide ID NM_130454.2
Ensembl protein ID ENSMUSP00000021097
Ensembl nucleotide ID ENSMUSG00000020752
Gene name ATP-dependent DNA helicase Q5
Gene symbol Recql5
Organism Mus musculus
NCBI taxa ID 10090
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description DNA helicase that plays an important role in DNA replication, transcription and repair. Inhibits elongation of stalled transcripts at DNA damage sites by binding to the RNA polymerase II subunit POLR2A and blocking the TCEA1 binding site. Required for mitotic chromosome separation after cross-over events and cell cycle progress. Required for efficient DNA repair, including repair of inter-strand cross-links. Stimulates DNA decatenation mediated by TOP2A. Prevents sister chromatid exchange and homologous recombination (By similarity).
Sequence
MSARPFSTPF DRERRVRSTL KKVFGFDSFK TPLQESATMA VVKGAEDVFV CMPTGAGKSL 60
CYQLPALLAS GITIVVSPLI ALIQDQVDHL LALKVQVSSL NSKLSVQERK ELLSDLERDK 120
PRTKLLYITP EMAASASFQP TLNSLVSRNL LSYLVVDEAH CVSQWGHDFR PDYLRLGALR 180
SRLAHAPCVA LTATATPQVQ EDVFAALHLK QPVASFKTPC FRANLFYDVQ FKELIPDVYG 240
NLRDFCLKAL GQKAENGSSS GCGIVYCRTR EACEQLAIEL SSRGVNAKAY HAGLKASDRT 300
QVQNEWMEEK VPVIVATISF GMGVDKANVR FVAHWNIAKS MAGYYQESGR AGRDGKPSWC 360
RLYYSRNDRD QVSFLIRKEL AKLQEKRGNK PSDKATLLAF DALVTFCEEV GCRHAAIAKY 420
FGDAPPACAK GCDYCQNPAA ITKKLDALER SSSWSKTCIG PSQGNGFDPE LYEGGRRGYG 480
GFSRYDEGSG GSGDEGRDEA HKREWNLFYQ KQMSLRKGKE PKIEEFTPPD EDCPLREASS 540
RKIPKLTVKA REHCLRLLEE ALISNHQAAG STHGADLQAK AVELEHETFR NAKMVNLYKA 600
SVLKKVAEIH KASKDGQLYD MESGTKSCGA AAEFSEPSDY DIPPTSHVYS LKPKRVGAGF 660
SKGPCSFQTA TELLGKSHSQ KQAPEAMLEG GQEPPGWVCD LQDEDRSKPH PGYQEKALGS 720
SVNCGDPSPE KKTKGSSQGS AKARASKKQQ LLATAARKDS QNITRFLCQR TESPPLPASV 780
PRSEDASPSC GDVPGKCTQE VGAQGHLVAV FQTEGPRERP STCSLRDQSF PEGQPSPLKE 840
TQAEKRPRPQ QGNPERRAQK RLRPSTKSSI LAEAKDSTLA SDRSTENKVA QEPCQLSASG 900
TSLREAADIV VRHLTPFYKE GRFISKDLFK GFARHLSHLL AQQLSPGRSV KEEAQSLIKQ 960
FFHNRARCES EADWHSLRGP QR 982

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologRECQL5512590E1BKM5Bos taurusPredictionMore>>
1:1 orthologRECQL5483317F1PAG8Canis lupus familiarisPredictionMore>>
1:1 orthologRECQL5102169794A0A452E119Capra hircusPredictionMore>>
1:1 orthologRECQL59400O94762Homo sapiensPublicationMore>>
1:1 orthologRecql5170472Q8VID5Mus musculusPredictionMore>>
1:1 orthologRECQL5G1TZG6Oryctolagus cuniculusPredictionMore>>
1:1 orthologRecql5287834D4ACP5Rattus norvegicusPredictionMore>>
1:1 orthologrecql5566553X1WCM8Danio rerioPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
RECQL5c.1322C>T; p.R441QWES and Sanger sequencing26449438

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0000993 RNA polymerase II complex bindingISS
GO:0000993 RNA polymerase II complex bindingISO
GO:0003676 nucleic acid bindingIEA
GO:0003678 DNA helicase activityISS
GO:0003678 DNA helicase activityISO
GO:0005524 ATP bindingIEA
GO:0009378 four-way junction helicase activityIBA
GO:0042802 identical protein bindingISO
GO:0043138 3'-5' DNA helicase activityIBA

GO:Biological Process

GO ID GO Term Evidence
GO:0000278 mitotic cell cycleISS
GO:0000278 mitotic cell cycleISO
GO:0000724 double-strand break repair via homologous recombinationIBA
GO:0006260 DNA replicationISS
GO:0006260 DNA replicationISO
GO:0006268 DNA unwinding involved in DNA replicationIBA
GO:0006281 DNA repairISS
GO:0006281 DNA repairISO
GO:0006281 DNA repairIBA
GO:0006310 DNA recombinationIBA
GO:0032508 DNA duplex unwindingIBA
GO:0034244 negative regulation of transcription elongation from RNA polymerase II promoterISS
GO:0034244 negative regulation of transcription elongation from RNA polymerase II promoterISO
GO:0035690 cellular response to drugIGI
GO:0035690 cellular response to drugIMP
GO:0051301 cell divisionIEA
GO:0051304 chromosome separationISS
GO:0051304 chromosome separationISO
GO:0072757 cellular response to camptothecinIGI
GO:0072757 cellular response to camptothecinIMP
GO:1990414 replication-born double-strand break repair via sister chromatid exchangeIMP
GO:2000042 negative regulation of double-strand break repair via homologous recombinationIGI

GO:Cellular Component

GO ID GO Term Evidence
GO:0005634 nucleusISS
GO:0005634 nucleusISO
GO:0005634 nucleusIBA
GO:0005654 nucleoplasmISO
GO:0005694 chromosomeIBA
GO:0005737 cytoplasmIBA
GO:0005829 cytosolISO
GO:0016591 RNA polymerase II, holoenzymeISO

Reactome Pathway

Reactome ID Reactome Term Evidence

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0067 ATP-binding
KW-0131 Cell cycle
KW-0132 Cell division
KW-0227 DNA damage
KW-0234 DNA repair
KW-0235 DNA replication
KW-0347 Helicase
KW-0378 Hydrolase
KW-0498 Mitosis
KW-0547 Nucleotide-binding
KW-0539 Nucleus
KW-0597 Phosphoprotein
KW-1185 Reference proteome

Interpro

InterPro ID InterPro Term
IPR011545 DEAD/DEAH_box_helicase_dom
IPR002464 DNA/RNA_helicase_DEAH_CS
IPR004589 DNA_helicase_ATP-dep_RecQ
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
IPR010716 RECQ5
IPR032284 RecQ_Zn-bd

PROSITE

PROSITE ID PROSITE Term
PS00690 DEAH_ATP_HELICASE
PS51192 HELICASE_ATP_BIND_1
PS51194 HELICASE_CTER

Pfam

Pfam ID Pfam Term
PF00270 DEAD
PF00271 Helicase_C
PF06959 RecQ5
PF16124 RecQ_Zn_bind