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

Gene ID: 9401, updated on 5-Aug-2018

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; Vega:OTTHUMG00000165178
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

Genomic context

See RECQL4 in Genome Data Viewer
Location:
8q24.3
Exon count:
21
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (144511284..144517828, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (145736667..145743210, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928953 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

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat'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
MedGen: C0032339 OMIM: 268400 GeneReviews: Rothmund-Thomson Syndrome
Compare labs

NHGRI GWAS Catalog

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

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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
ATP-dependent 3'-5' DNA helicase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ATP-dependent 3'-5' DNA helicase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
DNA binding IBA
Inferred from Biological aspect of Ancestor
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 
bubble DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
bubble DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
four-way junction helicase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
helicase activity TAS
Traceable Author Statement
more info
PubMed 
oxidized purine DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxidized purine DNA binding IDA
Inferred from Direct Assay
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 
single-stranded DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
telomeric D-loop binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
telomeric D-loop binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
DNA duplex unwinding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA duplex unwinding IDA
Inferred from Direct Assay
more info
PubMed 
DNA duplex unwinding TAS
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 TAS
Traceable Author Statement
more info
PubMed 
DNA replication IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA replication IDA
Inferred from Direct Assay
more info
PubMed 
DNA replication IMP
Inferred from Mutant Phenotype
more info
PubMed 
DNA strand renaturation IDA
Inferred from Direct Assay
more info
PubMed 
base-excision repair IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
double-strand break repair via homologous recombination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
multicellular organism development TAS
Traceable Author Statement
more info
PubMed 
positive regulation of DNA replication IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of G2/M transition of mitotic cell cycle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of cell proliferation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
telomere maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
telomeric D-loop disassembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
telomeric D-loop disassembly IDA
Inferred from Direct Assay
more info
PubMed 
telomeric D-loop disassembly IGI
Inferred from Genetic Interaction
more info
PubMed 
Component Evidence Code Pubs
chromosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chromosome, telomeric region IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chromosome, telomeric region IMP
Inferred from Mutant Phenotype
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane HDA PubMed 
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_004251.3
XP_011515686.1
XP_016869480.1
XP_016869481.1
XP_016869482.1
XP_016869483.1
XP_016869484.1
XP_016869485.1
XP_016869486.1
XP_016869487.1
XP_016869488.1
XP_016869489.1
XP_016869490.1

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_016430.1 RefSeqGene

    Range
    5001..11543
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004260.3NP_004251.3  ATP-dependent DNA helicase Q4

    See identical proteins and their annotated locations for NP_004251.3

    Status: REVIEWED

    Source sequence(s)
    AB006532, BC013277, CN286057
    Consensus CDS
    CCDS75804.1
    UniProtKB/Swiss-Prot
    O94761
    Related
    ENSP00000482313.1, OTTHUMP00000276152, ENST00000617875.4, OTTHUMT00000382483
    Conserved Domains (3) summary
    smart00487
    Location:473656
    DEXDc; DEAD-like helicases superfamily
    cd00079
    Location:685817
    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:482646
    DEAD; DEAD/DEAH box helicase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

    Range
    144511284..144517828 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017013994.2XP_016869483.1  ATP-dependent DNA helicase Q4 isoform X4

  2. XM_017013999.2XP_016869488.1  ATP-dependent DNA helicase Q4 isoform X9

  3. XM_017013995.2XP_016869484.1  ATP-dependent DNA helicase Q4 isoform X5

  4. XM_017013993.2XP_016869482.1  ATP-dependent DNA helicase Q4 isoform X3

  5. XM_017013997.2XP_016869486.1  ATP-dependent DNA helicase Q4 isoform X7

  6. XM_017013992.2XP_016869481.1  ATP-dependent DNA helicase Q4 isoform X2

  7. XM_017013991.2XP_016869480.1  ATP-dependent DNA helicase Q4 isoform X1

  8. XM_017014001.2XP_016869490.1  ATP-dependent DNA helicase Q4 isoform X12

    Related
    ENSP00000483145.1, OTTHUMP00000276151, ENST00000621189.4
  9. XM_017014000.1XP_016869489.1  ATP-dependent DNA helicase Q4 isoform X11

  10. XM_017013998.1XP_016869487.1  ATP-dependent DNA helicase Q4 isoform X8

  11. XM_011517384.3XP_011515686.1  ATP-dependent DNA helicase Q4 isoform X10

    Conserved Domains (2) summary
    smart00487
    Location:473656
    DEXDc; DEAD-like helicases superfamily
    pfam00270
    Location:482646
    DEAD; DEAD/DEAH box helicase
  12. XM_017013996.2XP_016869485.1  ATP-dependent DNA helicase Q4 isoform X6

RNA

  1. XR_001745630.2 RNA Sequence

  2. XR_001745629.2 RNA Sequence

  3. XR_001745628.2 RNA Sequence

  4. XR_001745627.2 RNA Sequence

  5. XR_001745626.2 RNA Sequence

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