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RECQL RecQ like helicase [ Homo sapiens (human) ]

Gene ID: 5965, updated on 23-Dec-2018

Summary

Official Symbol
RECQLprovided by HGNC
Official Full Name
RecQ like helicaseprovided by HGNC
Primary source
HGNC:HGNC:9948
See related
Ensembl:ENSG00000004700 MIM:600537
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RecQ1; RECQL1
Summary
The protein encoded by this gene is a member of the RecQ DNA helicase family. DNA helicases are enzymes involved in various types of DNA repair, including mismatch repair, nucleotide excision repair and direct repair. The encoded protein is involved in the processing of Holliday junctions, the suppression of sister chromatid exchanges, telomere maintenance, and is required for genotoxic stress resistance. Defects in this gene have been associated with several types of cancer. [provided by RefSeq, Jan 2017]
Expression
Ubiquitous expression in lymph node (RPKM 20.4), appendix (RPKM 19.2) and 25 other tissues See more
Orthologs

Genomic context

See RECQL in Genome Data Viewer
Location:
12p12.1
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (21468910..21501669, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (21621844..21654603, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene solute carrier organic anion transporter family member 1A2 Neighboring gene islet amyloid polypeptide Neighboring gene pyridine nucleotide-disulphide oxidoreductase domain 1 Neighboring gene elongin C pseudogene 31 Neighboring gene golgi transport 1B Neighboring gene spexin hormone Neighboring gene glycogen synthase 2 Neighboring gene lactate dehydrogenase B

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Pol gag-pol HIV-1 Pol is identified to have a physical interaction with RecQ protein-like (DNA helicase Q1-like) (RECQL) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
Rev rev HIV-1 Rev interacting protein, RecQ protein-like (RECQL), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with RECQL is increased by RRE PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATP-dependent 3'-5' DNA helicase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ATP-dependent DNA helicase activity TAS
Traceable Author Statement
more info
PubMed 
DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
annealing helicase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
annealing helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
four-way junction helicase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
DNA duplex unwinding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA recombination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA repair IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA strand renaturation IDA
Inferred from Direct Assay
more info
PubMed 
double-strand break repair via homologous recombination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
chromosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane HDA PubMed 
nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
ATP-dependent DNA helicase Q1
Names
DNA helicase, RecQ-like type 1
DNA-dependent ATPase Q1
RecQ helicase-like
RecQ protein-like (DNA helicase Q1-like)
recQ protein-like 1
NP_002898.2
NP_116559.1
XP_005253518.1
XP_005253519.1
XP_005253520.1
XP_005253521.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_002907.4NP_002898.2  ATP-dependent DNA helicase Q1

    See identical proteins and their annotated locations for NP_002898.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AK291627, CA431135, CN414472, CX784110, D37984, DA547846, T94514
    Consensus CDS
    CCDS31756.1
    UniProtKB/Swiss-Prot
    P46063
    UniProtKB/TrEMBL
    A0A024RAV2
    Related
    ENSP00000416739.2, ENST00000444129.6
    Conserved Domains (5) summary
    TIGR00614
    Location:81543
    recQ_fam; ATP-dependent DNA helicase, RecQ family
    cd00079
    Location:285417
    HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
    pfam00270
    Location:93258
    DEAD; DEAD/DEAH box helicase
    pfam16124
    Location:422478
    RecQ_Zn_bind; RecQ zinc-binding
    cl09632
    Location:484582
    RQC; RQC domain
  2. NM_032941.2NP_116559.1  ATP-dependent DNA helicase Q1

    See identical proteins and their annotated locations for NP_116559.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks a segment of 5' UTR sequence, compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    BC001052, CA431135, CX784110, D37984, DA028052, DA547846, T94514
    Consensus CDS
    CCDS31756.1
    UniProtKB/Swiss-Prot
    P46063
    UniProtKB/TrEMBL
    A0A024RAV2
    Related
    ENSP00000395449.2, ENST00000421138.6
    Conserved Domains (5) summary
    TIGR00614
    Location:81543
    recQ_fam; ATP-dependent DNA helicase, RecQ family
    cd00079
    Location:285417
    HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
    pfam00270
    Location:93258
    DEAD; DEAD/DEAH box helicase
    pfam16124
    Location:422478
    RecQ_Zn_bind; RecQ zinc-binding
    cl09632
    Location:484582
    RQC; RQC domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    21468910..21501669 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005253461.3XP_005253518.1  ATP-dependent DNA helicase Q1 isoform X1

    See identical proteins and their annotated locations for XP_005253518.1

    UniProtKB/Swiss-Prot
    P46063
    UniProtKB/TrEMBL
    A0A024RAV2
    Conserved Domains (5) summary
    TIGR00614
    Location:81543
    recQ_fam; ATP-dependent DNA helicase, RecQ family
    cd00079
    Location:285417
    HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
    pfam00270
    Location:93258
    DEAD; DEAD/DEAH box helicase
    pfam16124
    Location:422478
    RecQ_Zn_bind; RecQ zinc-binding
    cl09632
    Location:484582
    RQC; RQC domain
  2. XM_005253464.4XP_005253521.1  ATP-dependent DNA helicase Q1 isoform X1

    See identical proteins and their annotated locations for XP_005253521.1

    UniProtKB/Swiss-Prot
    P46063
    UniProtKB/TrEMBL
    A0A024RAV2
    Conserved Domains (5) summary
    TIGR00614
    Location:81543
    recQ_fam; ATP-dependent DNA helicase, RecQ family
    cd00079
    Location:285417
    HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
    pfam00270
    Location:93258
    DEAD; DEAD/DEAH box helicase
    pfam16124
    Location:422478
    RecQ_Zn_bind; RecQ zinc-binding
    cl09632
    Location:484582
    RQC; RQC domain
  3. XM_005253463.4XP_005253520.1  ATP-dependent DNA helicase Q1 isoform X1

    See identical proteins and their annotated locations for XP_005253520.1

    UniProtKB/Swiss-Prot
    P46063
    UniProtKB/TrEMBL
    A0A024RAV2
    Conserved Domains (5) summary
    TIGR00614
    Location:81543
    recQ_fam; ATP-dependent DNA helicase, RecQ family
    cd00079
    Location:285417
    HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
    pfam00270
    Location:93258
    DEAD; DEAD/DEAH box helicase
    pfam16124
    Location:422478
    RecQ_Zn_bind; RecQ zinc-binding
    cl09632
    Location:484582
    RQC; RQC domain
  4. XM_005253462.5XP_005253519.1  ATP-dependent DNA helicase Q1 isoform X1

    See identical proteins and their annotated locations for XP_005253519.1

    UniProtKB/Swiss-Prot
    P46063
    UniProtKB/TrEMBL
    A0A024RAV2
    Conserved Domains (5) summary
    TIGR00614
    Location:81543
    recQ_fam; ATP-dependent DNA helicase, RecQ family
    cd00079
    Location:285417
    HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
    pfam00270
    Location:93258
    DEAD; DEAD/DEAH box helicase
    pfam16124
    Location:422478
    RecQ_Zn_bind; RecQ zinc-binding
    cl09632
    Location:484582
    RQC; RQC domain
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