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RECQL4 RecQ like helicase 4 [ Homo sapiens (human) ]

Gene ID: 9401, updated on 29-Dec-2022

Summary

Official Symbol
RECQL4provided by HGNC
Official Full Name
RecQ like helicase 4provided by HGNC
Primary source
HGNC:HGNC:9949
See related
Ensembl:ENSG00000160957 MIM:603780; AllianceGenome:HGNC:9949
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
RECQ4
Summary
The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly expressed in thymus and testis. Mutations in this gene are associated with Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes. [provided by RefSeq, Jan 2010]
Expression
Broad expression in bone marrow (RPKM 7.0), testis (RPKM 7.0) and 22 other tissues See more
Orthologs
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Genomic context

See RECQL4 in Genome Data Viewer
Location:
8q24.3
Exon count:
21
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (144511288..144517833, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (145681054..145688017, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (145736671..145743217, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928953 Neighboring gene Sharpr-MPRA regulatory region 2015 Neighboring gene glutamic--pyruvic transaminase Neighboring gene major facilitator superfamily domain containing 3 Neighboring gene leucine rich repeat containing 14 Neighboring gene leucine rich repeat containing 24 Neighboring gene chromosome 8 open reading frame 82 Neighboring gene Sharpr-MPRA regulatory region 11949

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?

Phenotypes

Associated conditions

Description Tests
Baller-Gerold syndrome
MedGen: C0265308 OMIM: 218600 GeneReviews: Baller-Gerold Syndrome
Compare labs
Rapadilino syndrome
MedGen: C1849453 OMIM: 266280 GeneReviews: Not available
Compare labs
Rothmund-Thomson syndrome type 2
MedGen: C5203410 OMIM: 268400 GeneReviews: Rothmund-Thomson Syndrome
Compare labs

EBI GWAS Catalog

Description
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NOT enables 3'-5' DNA helicase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables ATP hydrolysis activity IEA
Inferred from Electronic Annotation
more info
 
enables DNA/DNA annealing activity IDA
Inferred from Direct Assay
more info
PubMed 
enables bubble DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables four-way junction helicase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables helicase activity TAS
Traceable Author Statement
more info
PubMed 
enables oxidized purine DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables telomeric D-loop binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in DNA duplex unwinding IDA
Inferred from Direct Assay
more info
PubMed 
involved_in DNA duplex unwinding TAS
Traceable Author Statement
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
PubMed 
involved_in double-strand break repair via homologous recombination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in telomere maintenance IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in telomere maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in telomeric D-loop disassembly IDA
Inferred from Direct Assay
more info
PubMed 
involved_in telomeric D-loop disassembly IGI
Inferred from Genetic Interaction
more info
PubMed 
Component Evidence Code Pubs
is_active_in chromosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in chromosome, telomeric region IMP
Inferred from Mutant Phenotype
more info
PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in membrane HDA PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
ATP-dependent DNA helicase Q4
Names
DNA helicase, RecQ-like, type 4
RecQ helicase-like 4
RecQ protein-like 4
NP_004251.4
XP_011515686.1
XP_047278393.1
XP_047278394.1
XP_047278395.1
XP_047278396.1
XP_047278397.1
XP_047278398.1
XP_047278399.1
XP_047278400.1
XP_047278401.1
XP_047278402.1
XP_047278403.1
XP_047278404.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_016430.2 RefSeqGene

    Range
    4994..11539
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_277

mRNA and Protein(s)

  1. NM_001413017.1NP_001399946.1  ATP-dependent DNA helicase Q4 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717
  2. NM_001413018.1NP_001399947.1  ATP-dependent DNA helicase Q4 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717
  3. NM_001413019.1NP_001399948.1  ATP-dependent DNA helicase Q4 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717
  4. NM_001413020.1NP_001399949.1  ATP-dependent DNA helicase Q4 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717
  5. NM_001413021.1NP_001399950.1  ATP-dependent DNA helicase Q4 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717
    UniProtKB/TrEMBL
    A0A087X072
  6. NM_001413022.1NP_001399951.1  ATP-dependent DNA helicase Q4 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717
    UniProtKB/TrEMBL
    A0A087X072
  7. NM_001413023.1NP_001399952.1  ATP-dependent DNA helicase Q4 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717
  8. NM_001413024.1NP_001399953.1  ATP-dependent DNA helicase Q4 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717
    UniProtKB/TrEMBL
    A0A087X072
  9. NM_001413025.1NP_001399954.1  ATP-dependent DNA helicase Q4 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717
  10. NM_001413027.1NP_001399956.1  ATP-dependent DNA helicase Q4 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717
  11. NM_001413028.1NP_001399957.1  ATP-dependent DNA helicase Q4 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717
    UniProtKB/TrEMBL
    A0A087X072
  12. NM_001413029.1NP_001399958.1  ATP-dependent DNA helicase Q4 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717
  13. NM_001413030.1NP_001399959.1  ATP-dependent DNA helicase Q4 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717
  14. NM_001413031.1NP_001399960.1  ATP-dependent DNA helicase Q4 isoform 11

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717
  15. NM_001413032.1NP_001399961.1  ATP-dependent DNA helicase Q4 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717
  16. NM_001413033.1NP_001399962.1  ATP-dependent DNA helicase Q4 isoform 12

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717
  17. NM_001413034.1NP_001399963.1  ATP-dependent DNA helicase Q4 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717
    UniProtKB/TrEMBL
    A0A087X072
  18. NM_001413035.1NP_001399964.1  ATP-dependent DNA helicase Q4 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717
    UniProtKB/TrEMBL
    A0A087X072
  19. NM_001413036.1NP_001399965.1  ATP-dependent DNA helicase Q4 isoform 13

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717
  20. NM_001413037.1NP_001399966.1  ATP-dependent DNA helicase Q4 isoform 14

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717
  21. NM_001413038.1NP_001399967.1  ATP-dependent DNA helicase Q4 isoform 15

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717
  22. NM_001413039.1NP_001399968.1  ATP-dependent DNA helicase Q4 isoform 16

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717
  23. NM_001413040.1NP_001399969.1  ATP-dependent DNA helicase Q4 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717
    UniProtKB/TrEMBL
    A0A087X072
  24. NM_001413041.1NP_001399970.1  ATP-dependent DNA helicase Q4 isoform 17

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717
  25. NM_001413042.1NP_001399971.1  ATP-dependent DNA helicase Q4 isoform 19

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717
  26. NM_001413043.1NP_001399972.1  ATP-dependent DNA helicase Q4 isoform 18

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717
  27. NM_004260.4NP_004251.4  ATP-dependent DNA helicase Q4 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717
    Consensus CDS
    CCDS75804.1
    UniProtKB/Swiss-Prot
    Q96F55
    Related
    ENSP00000482313.2, ENST00000617875.6
    Conserved Domains (2) summary
    cd18794
    Location:673817
    SF2_C_RecQ; C-terminal helicase domain of the RecQ family helicases
    cd18018
    Location:470667
    DEXHc_RecQ4-like; DEAH-box helicase domain of RecQ4 and similar proteins

RNA

  1. NR_182090.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717
  2. NR_182091.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717
  3. NR_182092.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    144511288..144517833 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047422442.1XP_047278398.1  ATP-dependent DNA helicase Q4 isoform X7

  2. XM_047422439.1XP_047278395.1  ATP-dependent DNA helicase Q4 isoform X3

  3. XM_047422438.1XP_047278394.1  ATP-dependent DNA helicase Q4 isoform X2

  4. XM_011517384.4XP_011515686.1  ATP-dependent DNA helicase Q4 isoform X5

    Conserved Domains (2) summary
    smart00487
    Location:473656
    DEXDc; DEAD-like helicases superfamily
    pfam00270
    Location:482646
    DEAD; DEAD/DEAH box helicase
  5. XM_047422440.1XP_047278396.1  ATP-dependent DNA helicase Q4 isoform X4

  6. XM_047422437.1XP_047278393.1  ATP-dependent DNA helicase Q4 isoform X1

  7. XM_047422446.1XP_047278402.1  ATP-dependent DNA helicase Q4 isoform X11

    Related
    ENSP00000483145.1, ENST00000621189.4
  8. XM_047422445.1XP_047278401.1  ATP-dependent DNA helicase Q4 isoform X10

  9. XM_047422441.1XP_047278397.1  ATP-dependent DNA helicase Q4 isoform X6

  10. XM_047422443.1XP_047278399.1  ATP-dependent DNA helicase Q4 isoform X8

  11. XM_047422444.1XP_047278400.1  ATP-dependent DNA helicase Q4 isoform X9

  12. XM_047422448.1XP_047278404.1  ATP-dependent DNA helicase Q4 isoform X13

  13. XM_047422447.1XP_047278403.1  ATP-dependent DNA helicase Q4 isoform X12

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    145681054..145688017 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)