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

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; AllianceGenome:HGNC:9950
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: mouse all
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Genomic context

Location:: 17q25.1

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (75626854..75667154, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (76520039..76560340, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (73622934..73663234, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

RecQ helicase expression in patients with telomeropathies.
Title: RecQ helicase expression in patients with telomeropathies.
The deubiquitinase USP28 stabilizes the expression of RecQ family helicases and maintains the viability of triple negative breast cancer cells.
Title: The deubiquitinase USP28 stabilizes the expression of RecQ family helicases and maintains the viability of triple negative breast cancer cells.
Human RecQ helicases in transcription-associated stress management: bridging the gap between DNA and RNA metabolism.
Title: Human RecQ helicases in transcription-associated stress management: bridging the gap between DNA and RNA metabolism.
RECQL5 KIX domain splicing isoforms have distinct functions in transcription repression and DNA damage response.
Title: RECQL5 KIX domain splicing isoforms have distinct functions in transcription repression and DNA damage response.
ATRX and RECQ5 define distinct homologous recombination subpathways.
Title: ATRX and RECQ5 define distinct homologous recombination subpathways.
Single-molecule visualization of human RECQ5 interactions with single-stranded DNA recombination intermediates.
Title: Single-molecule visualization of human RECQ5 interactions with single-stranded DNA recombination intermediates.
Human RECQL5 promotes metastasis and resistance to cisplatin in non-small cell lung cancer.
Title: Human RECQL5 promotes metastasis and resistance to cisplatin in non-small cell lung cancer.
Mining the role of RECQL5 in gastric cancer and seeking potential regulatory network by bioinformatics analysis.
Title: Mining the role of RECQL5 in gastric cancer and seeking potential regulatory network by bioinformatics analysis.
These results prompt us to propose RECQL5 as a gene that would be worth to analyze in larger studies to explore its possible implication in BC susceptibility.
Title: RECQL5: Another DNA helicase potentially involved in hereditary breast cancer susceptibility.
increased RECQ5 levels stimulated 'alternative' HDR by single-stranded DNA donors, which is normally suppressed by RAD51; this was accompanied by stimulation of mutagenic end-joining. These results suggest that in some tumors, RECQ5 gene amplification may have profound consequences for genomic instability
Title: Increased levels of RECQ5 shift DNA repair from canonical to alternative pathways.

Submit: New GeneRIF Correction See all GeneRIFs (48)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

RH78659 (e-PCR)
- UniSTS:58399

RH98978 (e-PCR)
- UniSTS:91194

RH91485 (e-PCR)
- UniSTS:91195

RH102501 (e-PCR)
- UniSTS:96835

L18426 (e-PCR)
- UniSTS:34648

RH48367 (e-PCR)
- UniSTS:15724

D17S609 (e-PCR)
- UniSTS:147110

L17971 (e-PCR)
- UniSTS:43966

RH91261 (e-PCR)
- UniSTS:91860

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 3'-5' DNA helicase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA helicase activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA helicase activity	NAS Non-traceable Author Statement more info	PubMed
enables RNA polymerase II complex binding	IDA Inferred from Direct Assay more info	PubMed
enables four-way junction helicase activity	IBA Inferred from Biological aspect of Ancestor more info
enables helicase activity	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables isomerase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA metabolic process	NAS Non-traceable Author Statement more info	PubMed
involved_in DNA repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in DNA replication	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in DNA unwinding involved in DNA replication	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in cellular response to camptothecin	IEA Inferred from Electronic Annotation more info
involved_in cellular response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in chromosome separation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in double-strand break repair via homologous recombination	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic DNA-templated DNA replication	IDA Inferred from Direct Assay more info	PubMed
involved_in mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of double-strand break repair via homologous recombination	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription elongation by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in replication-born double-strand break repair via sister chromatid exchange	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in chromosome	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	NAS Non-traceable Author Statement more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	NAS Non-traceable Author Statement more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
is_active_in replication fork	IDA Inferred from Direct Assay more info	PubMed
part_of transcription preinitiation complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ATP-dependent DNA helicase Q5

Names: DNA 3'-5' helicase RecQ5; DNA helicase, RecQ-like type 5; RecQ helicase-like 5; RecQ protein-like 5

NP_001003715.1

EC 5.6.2.4

NP_001003716.1

EC 5.6.2.4

NP_004250.4

EC 5.6.2.4

XP_005257875.1

EC 5.6.2.4

XP_005257879.1

EC 5.6.2.4

XP_006722249.1

EC 5.6.2.4

XP_011523786.1

EC 5.6.2.4

XP_011523787.1

EC 5.6.2.4

XP_011523788.1

EC 5.6.2.4

XP_047293041.1

EC 5.6.2.4

XP_047293042.1

EC 5.6.2.4

XP_047293043.1

EC 5.6.2.4

XP_047293044.1

EC 5.6.2.4

XP_047293045.1

EC 5.6.2.4

XP_047293046.1

EC 5.6.2.4

XP_047293047.1

EC 5.6.2.4

XP_047293048.1

EC 5.6.2.4

XP_054173797.1

EC 5.6.2.4

XP_054173798.1

EC 5.6.2.4

XP_054173799.1

EC 5.6.2.4

XP_054173800.1

EC 5.6.2.4

XP_054173801.1

EC 5.6.2.4

XP_054173802.1

EC 5.6.2.4

XP_054173803.1

EC 5.6.2.4

XP_054173804.1

EC 5.6.2.4

XP_054173805.1

EC 5.6.2.4

XP_054173806.1

EC 5.6.2.4

NCBI Reference Sequences (RefSeq)

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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

NG_029617.2 RefSeqGene

Range

5000..45300

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001003715.4 → NP_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/TrEMBL

B3KQK2

Related

ENSP00000341983.5, ENST00000340830.9

Conserved Domains (3) summary

smart00487
Location:22 → 229

DEXDc; DEAD-like helicases superfamily

cd00079
Location:246 → 362

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:31 → 201

DEAD; DEAD/DEAH box helicase
NM_001003716.4 → NP_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/TrEMBL

B3KQK2

Related

ENSP00000414933.2, ENST00000420326.6

Conserved Domains (3) summary

smart00487
Location:22 → 229

DEXDc; DEAD-like helicases superfamily

cd00079
Location:246 → 362

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:31 → 201

DEAD; DEAD/DEAH box helicase
NM_004259.7 → NP_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, Q6P4G0, Q9H0B1, Q9P1W7, Q9UNC8

UniProtKB/TrEMBL

A5YM55

Related

ENSP00000317636.5, ENST00000317905.10

Conserved Domains (5) summary

smart00487
Location:22 → 229

DEXDc; DEAD-like helicases superfamily

cd00079
Location:246 → 362

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:31 → 201

DEAD; DEAD/DEAH box helicase

pfam06959
Location:625 → 826

RecQ5; RecQ helicase protein-like 5 (RecQ5)

pfam16124
Location:367 → 434

RecQ_Zn_bind; RecQ zinc-binding

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

75626854..75667154 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005257818.5 → XP_005257875.1 ATP-dependent DNA helicase Q5 isoform X1

See identical proteins and their annotated locations for XP_005257875.1

UniProtKB/TrEMBL

A5YM55

Conserved Domains (5) summary

smart00487
Location:22 → 229

DEXDc; DEAD-like helicases superfamily

cd00079
Location:246 → 362

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:31 → 201

DEAD; DEAD/DEAH box helicase

pfam06959
Location:625 → 826

RecQ5; RecQ helicase protein-like 5 (RecQ5)

pfam16124
Location:367 → 434

RecQ_Zn_bind; RecQ zinc-binding
XM_047437085.1 → XP_047293041.1 ATP-dependent DNA helicase Q5 isoform X2

UniProtKB/Swiss-Prot

O94762, Q6P4G0, Q9H0B1, Q9P1W7, Q9UNC8
XM_011525486.3 → XP_011523788.1 ATP-dependent DNA helicase Q5 isoform X11

Conserved Domains (2) summary

pfam06959
Location:114 → 315

RecQ5; RecQ helicase protein-like 5 (RecQ5)

pfam08236
Location:423 → 462

SRI; SRI (Set2 Rpb1 interacting) domain
XM_011525485.3 → XP_011523787.1 ATP-dependent DNA helicase Q5 isoform X6

UniProtKB/TrEMBL

Q9BW80

Conserved Domains (3) summary

pfam06959
Location:225 → 426

RecQ5; RecQ helicase protein-like 5 (RecQ5)

pfam08236
Location:534 → 573

SRI; SRI (Set2 Rpb1 interacting) domain

pfam16124
Location:6 → 34

RecQ_Zn_bind; RecQ zinc-binding
XM_047437087.1 → XP_047293043.1 ATP-dependent DNA helicase Q5 isoform X3
XM_047437089.1 → XP_047293045.1 ATP-dependent DNA helicase Q5 isoform X8
XM_011525484.2 → XP_011523786.1 ATP-dependent DNA helicase Q5 isoform X4

UniProtKB/TrEMBL

Q9BW80

Conserved Domains (3) summary

pfam06959
Location:231 → 432

RecQ5; RecQ helicase protein-like 5 (RecQ5)

pfam08236
Location:540 → 579

SRI; SRI (Set2 Rpb1 interacting) domain

pfam16124
Location:16 → 40

RecQ_Zn_bind; RecQ zinc-binding
XM_047437086.1 → XP_047293042.1 ATP-dependent DNA helicase Q5 isoform X3
XM_005257822.5 → XP_005257879.1 ATP-dependent DNA helicase Q5 isoform X9

See identical proteins and their annotated locations for XP_005257879.1

UniProtKB/TrEMBL

Q8WYH5, Q9BW80

Conserved Domains (3) summary

pfam06959
Location:220 → 421

RecQ5; RecQ helicase protein-like 5 (RecQ5)

pfam08236
Location:508 → 547

SRI; SRI (Set2 Rpb1 interacting) domain

pfam16124
Location:4 → 29

RecQ_Zn_bind; RecQ zinc-binding
XM_047437090.1 → XP_047293046.1 ATP-dependent DNA helicase Q5 isoform X9

UniProtKB/TrEMBL

Q8WYH5
XM_047437088.1 → XP_047293044.1 ATP-dependent DNA helicase Q5 isoform X5
XM_006722186.2 → XP_006722249.1 ATP-dependent DNA helicase Q5 isoform X7

UniProtKB/TrEMBL

Q9BW80

Conserved Domains (3) summary

pfam06959
Location:220 → 421

RecQ5; RecQ helicase protein-like 5 (RecQ5)

pfam08236
Location:529 → 568

SRI; SRI (Set2 Rpb1 interacting) domain

pfam16124
Location:4 → 29

RecQ_Zn_bind; RecQ zinc-binding
XM_047437091.1 → XP_047293047.1 ATP-dependent DNA helicase Q5 isoform X10
XM_047437092.1 → XP_047293048.1 ATP-dependent DNA helicase Q5 isoform X12

Related

ENSP00000462248.1, ENST00000584999.1

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

76520039..76560340 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054317822.1 → XP_054173797.1 ATP-dependent DNA helicase Q5 isoform X1
XM_054317831.1 → XP_054173806.1 ATP-dependent DNA helicase Q5 isoform X11
XM_054317826.1 → XP_054173801.1 ATP-dependent DNA helicase Q5 isoform X6
XM_054317828.1 → XP_054173803.1 ATP-dependent DNA helicase Q5 isoform X8
XM_054317824.1 → XP_054173799.1 ATP-dependent DNA helicase Q5 isoform X4
XM_054317825.1 → XP_054173800.1 ATP-dependent DNA helicase Q5 isoform X5
XM_054317823.1 → XP_054173798.1 ATP-dependent DNA helicase Q5 isoform X3
XM_054317829.1 → XP_054173804.1 ATP-dependent DNA helicase Q5 isoform X9

UniProtKB/TrEMBL

Q8WYH5
XM_054317827.1 → XP_054173802.1 ATP-dependent DNA helicase Q5 isoform X7
XM_054317830.1 → XP_054173805.1 ATP-dependent DNA helicase Q5 isoform X10