Format

Send to:

Choose Destination

RECQL5 RecQ like helicase 5 [ Homo sapiens (human) ]

Gene ID: 9400, updated on 5-Jan-2020

Summary

Official Symbol
RECQL5provided by HGNC
Official Full Name
RecQ like helicase 5provided by HGNC
Primary source
HGNC:HGNC:9950
See related
Ensembl:ENSG00000108469 MIM:603781
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
RECQ5
Summary
The protein encoded by this gene is a helicase that is important for genome stability. The encoded protein also prevents aberrant homologous recombination by displacing RAD51 from ssDNA. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]
Expression
Ubiquitous expression in testis (RPKM 5.3), stomach (RPKM 5.3) and 25 other tissues See more
Orthologs

Genomic context

See RECQL5 in Genome Data Viewer
Location:
17q25.1
Exon count:
23
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (75626845..75667202, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (73622925..73663270, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985023 Neighboring gene tRNA splicing endonuclease subunit 54 Neighboring gene LLGL scribble cell polarity complex component 2 Neighboring gene myosin XVB Neighboring gene HNF1 motif-containing MPRA enhancer 181 Neighboring gene uncharacterized LOC107985013 Neighboring gene small integral membrane protein 5 Neighboring gene small integral membrane protein 6 Neighboring gene SAP30 binding protein Neighboring gene ITGB4 intron CAGE-defined low expression enhancer Neighboring gene integrin subunit beta 4 Neighboring gene galactokinase 1

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 Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ90603

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
DNA helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
DNA helicase activity NAS
Non-traceable Author Statement
more info
PubMed 
RNA polymerase II complex binding IDA
Inferred from Direct Assay
more info
PubMed 
four-way junction helicase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleic acid binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
DNA duplex unwinding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA metabolic process NAS
Non-traceable Author Statement
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 repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
DNA replication IMP
Inferred from Mutant Phenotype
more info
PubMed 
DNA unwinding involved in DNA replication IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell division IEA
Inferred from Electronic Annotation
more info
 
cellular response to camptothecin IEA
Inferred from Electronic Annotation
more info
 
chromosome separation IMP
Inferred from Mutant Phenotype
more info
PubMed 
double-strand break repair via homologous recombination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitotic cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of double-strand break repair via homologous recombination IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription elongation from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
replication-born double-strand break repair via sister chromatid exchange IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
RNA polymerase II, holoenzyme IDA
Inferred from Direct Assay
more info
PubMed 
chromosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm NAS
Non-traceable Author Statement
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm NAS
Non-traceable Author Statement
more info
PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
ATP-dependent DNA helicase Q5
Names
DNA helicase, RecQ-like type 5
RecQ helicase-like 5
RecQ protein-like 5
NP_001003715.1
NP_001003716.1
NP_004250.4
XP_005257875.1
XP_005257879.1
XP_006722249.1
XP_011523786.1
XP_011523787.1
XP_011523788.1

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.

Genomic

  1. NG_029617.1 RefSeqGene

    Range
    5001..45345
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001003715.4NP_001003715.1  ATP-dependent DNA helicase Q5 isoform 2

    See identical proteins and their annotated locations for NP_001003715.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2), also known as RecQ5-gamma, differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AB042825, AC087749, AI537883, AI684041, AK075084, BP272369, N53539
    Consensus CDS
    CCDS32735.1
    UniProtKB/Swiss-Prot
    O94762
    UniProtKB/TrEMBL
    B3KQK2
    Related
    ENSP00000341983.5, ENST00000340830.9
    Conserved Domains (3) summary
    smart00487
    Location:22229
    DEXDc; DEAD-like helicases superfamily
    cd00079
    Location:246362
    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:31201
    DEAD; DEAD/DEAH box helicase
  2. NM_001003716.4NP_001003716.1  ATP-dependent DNA helicase Q5 isoform 3

    See identical proteins and their annotated locations for NP_001003716.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3), also known as RecQ5-alpha, differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (3) is shorter at the C-terminus compared to isoform 1.
    Source sequence(s)
    AB042823, AC087749, AI537883
    Consensus CDS
    CCDS45777.1
    UniProtKB/Swiss-Prot
    O94762
    UniProtKB/TrEMBL
    A0A024R8S8
    Related
    ENSP00000414933.2, ENST00000420326.6
    Conserved Domains (3) summary
    smart00487
    Location:22229
    DEXDc; DEAD-like helicases superfamily
    cd00079
    Location:246362
    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:31201
    DEAD; DEAD/DEAH box helicase
  3. NM_004259.7NP_004250.4  ATP-dependent DNA helicase Q5 isoform 1

    See identical proteins and their annotated locations for NP_004250.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is also known as RecQ5-beta; it encodes the longest isoform (1).
    Source sequence(s)
    AC087749
    Consensus CDS
    CCDS42380.1
    UniProtKB/Swiss-Prot
    O94762
    UniProtKB/TrEMBL
    A0A024R8M9, Q8WYH5
    Related
    ENSP00000317636.5, ENST00000317905.10
    Conserved Domains (5) summary
    smart00487
    Location:22229
    DEXDc; DEAD-like helicases superfamily
    cd00079
    Location:246362
    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:31201
    DEAD; DEAD/DEAH box helicase
    pfam06959
    Location:625826
    RecQ5; RecQ helicase protein-like 5 (RecQ5)
    pfam16124
    Location:367434
    RecQ_Zn_bind; RecQ zinc-binding

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    75626845..75667202 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005257818.4XP_005257875.1  ATP-dependent DNA helicase Q5 isoform X1

    See identical proteins and their annotated locations for XP_005257875.1

    Conserved Domains (5) summary
    smart00487
    Location:22229
    DEXDc; DEAD-like helicases superfamily
    cd00079
    Location:246362
    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:31201
    DEAD; DEAD/DEAH box helicase
    pfam06959
    Location:625826
    RecQ5; RecQ helicase protein-like 5 (RecQ5)
    pfam16124
    Location:367434
    RecQ_Zn_bind; RecQ zinc-binding
  2. XM_005257822.4XP_005257879.1  ATP-dependent DNA helicase Q5 isoform X5

    See identical proteins and their annotated locations for XP_005257879.1

    UniProtKB/TrEMBL
    Q8WYH5
    Conserved Domains (3) summary
    pfam06959
    Location:220421
    RecQ5; RecQ helicase protein-like 5 (RecQ5)
    pfam08236
    Location:508547
    SRI; SRI (Set2 Rpb1 interacting) domain
    pfam16124
    Location:429
    RecQ_Zn_bind; RecQ zinc-binding
  3. XM_011525486.2XP_011523788.1  ATP-dependent DNA helicase Q5 isoform X6

    Conserved Domains (2) summary
    pfam06959
    Location:114315
    RecQ5; RecQ helicase protein-like 5 (RecQ5)
    pfam08236
    Location:423462
    SRI; SRI (Set2 Rpb1 interacting) domain
  4. XM_011525484.1XP_011523786.1  ATP-dependent DNA helicase Q5 isoform X2

    Conserved Domains (3) summary
    pfam06959
    Location:231432
    RecQ5; RecQ helicase protein-like 5 (RecQ5)
    pfam08236
    Location:540579
    SRI; SRI (Set2 Rpb1 interacting) domain
    pfam16124
    Location:1640
    RecQ_Zn_bind; RecQ zinc-binding
  5. XM_011525485.2XP_011523787.1  ATP-dependent DNA helicase Q5 isoform X3

    Conserved Domains (3) summary
    pfam06959
    Location:225426
    RecQ5; RecQ helicase protein-like 5 (RecQ5)
    pfam08236
    Location:534573
    SRI; SRI (Set2 Rpb1 interacting) domain
    pfam16124
    Location:634
    RecQ_Zn_bind; RecQ zinc-binding
  6. XM_006722186.2XP_006722249.1  ATP-dependent DNA helicase Q5 isoform X4

    Conserved Domains (3) summary
    pfam06959
    Location:220421
    RecQ5; RecQ helicase protein-like 5 (RecQ5)
    pfam08236
    Location:529568
    SRI; SRI (Set2 Rpb1 interacting) domain
    pfam16124
    Location:429
    RecQ_Zn_bind; RecQ zinc-binding

RNA

  1. XR_002958088.1 RNA Sequence

Support Center