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RECQL4 RecQ protein-like 4 [ Homo sapiens (human) ]

Gene ID: 9401, updated on 10-Apr-2015
Official Symbol
RECQL4provided by HGNC
Official Full Name
RecQ protein-like 4provided by HGNC
Primary source
HGNC:HGNC:9949
See related
Ensembl:ENSG00000160957; HPRD:04805; 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]
Orthologs
See RECQL4 in MapViewer
Location:
8q24.3
Exon count:
21
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 8 NC_000008.11 (144511284..144517827, 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 LOC105375802 Neighboring gene glutamic-pyruvate transaminase (alanine aminotransferase) 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
ATP-dependent 3'-5' DNA helicase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
annealing helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
bubble DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
DNA duplex unwinding IDA
Inferred from Direct Assay
more info
PubMed 
DNA recombination IEA
Inferred from Electronic Annotation
more info
 
DNA repair TAS
Traceable Author Statement
more info
PubMed 
DNA replication IDA
Inferred from Direct Assay
more info
PubMed 
DNA strand renaturation IDA
Inferred from Direct Assay
more info
PubMed 
multicellular organismal development TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
ATP-dependent DNA helicase Q4
Names
ATP-dependent DNA helicase Q4
DNA helicase, RecQ-like type 4
DNA helicase, RecQ-like, type 4
NP_004251.3

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, OTTHUMP00000276152, ENST00000617875, OTTHUMT00000382483
    Conserved Domains (3) summary
    smart00487
    Location:473656
    DEXDc; DEAD-like helicases superfamily
    cd00046
    Location:497643
    DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p2 Primary Assembly

    Range
    144511284..144517827
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011517381.1XP_011515683.1  

    Conserved Domains (3) summary
    smart00487
    Location:441624
    DEXDc; DEAD-like helicases superfamily
    cd00046
    Location:465611
    DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
    cd00079
    Location:653785
    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 ...
  2. XM_011517384.1XP_011515686.1  

    Conserved Domains (2) summary
    smart00487
    Location:473656
    DEXDc; DEAD-like helicases superfamily
    cd00046
    Location:497643
    DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
  3. XM_011517383.1XP_011515685.1  

    Conserved Domains (2) summary
    smart00487
    Location:473656
    DEXDc; DEAD-like helicases superfamily
    cd00046
    Location:497643
    DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
  4. XM_011517382.1XP_011515684.1  

    Conserved Domains (2) summary
    smart00487
    Location:473656
    DEXDc; DEAD-like helicases superfamily
    cd00046
    Location:497643
    DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
  5. XM_011517380.1XP_011515682.1  

    Conserved Domains (3) summary
    smart00487
    Location:473656
    DEXDc; DEAD-like helicases superfamily
    cd00046
    Location:497643
    DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
    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 ...
  6. XM_011517385.1XP_011515687.1  

    Conserved Domains (3) summary
    smart00487
    Location:94277
    DEXDc; DEAD-like helicases superfamily
    cd00046
    Location:118264
    DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
    cd00079
    Location:306438
    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 ...

RNA

  1. XR_928368.1 RNA Sequence

  2. XR_928367.1 RNA Sequence

  3. XR_928366.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018919.2 Alternate CHM1_1.1

    Range
    145774859..145781399
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)