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HELQ helicase, POLQ-like [ Homo sapiens (human) ]

Gene ID: 113510, updated on 8-May-2016
Official Symbol
HELQprovided by HGNC
Official Full Name
helicase, POLQ-likeprovided by HGNC
Primary source
HGNC:HGNC:18536
See related
Ensembl:ENSG00000163312 HPRD:08422; MIM:606769; Vega:OTTHUMG00000130423
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HEL308
Summary
HEL308 is a single-stranded DNA-dependent ATPase and DNA helicase (Marini and Wood, 2002 [PubMed 11751861]).[supplied by OMIM, Mar 2008]
Orthologs
Location:
4q21.23
Exon count:
20
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 4 NC_000004.12 (83407343..83455883, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (84328496..84377162, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377314 Neighboring gene chromosome 18 open reading frame 21 pseudogene Neighboring gene mitochondrial ribosomal protein S18C Neighboring gene family with sequence similarity 175 member A Neighboring gene solute carrier family 25 member 14 pseudogene 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium.
NHGRI GWA Catalog
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC20604

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
helicase activity IEA
Inferred from Electronic Annotation
more info
 
nucleic acid binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
double-strand break repair via homologous recombination IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
Preferred Names
helicase POLQ-like
Names
DNA helicase HEL308
POLQ-like helicase
mus308-like helicase
NP_001284684.1
NP_001284685.1
NP_001284686.1
NP_001284687.1
NP_001284688.1
NP_598375.2

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.

mRNA and Protein(s)

  1. NM_001297755.1NP_001284684.1  helicase POLQ-like isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
    Source sequence(s)
    AC096768, AK308395, BC111502, DB081240
    Consensus CDS
    CCDS75158.1
    Related
    ENSP00000424539, OTTHUMP00000219793, ENST00000510985, OTTHUMT00000363955
    Conserved Domains (4) summary
    PRK02362
    Location:318999
    PRK02362; ski2-like helicase; Provisional
    cd00079
    Location:503655
    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 ...
    pfam14520
    Location:940999
    HHH_5; Helix-hairpin-helix domain
    cl21455
    Location:335432
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  2. NM_001297756.1NP_001284685.1  helicase POLQ-like isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in its 5' UTR and uses an alternate start codon, which results in a frameshift, compared to variant 1. The encoded isoform (3) has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC096768, AK312725, BC111502, DB081240
    Conserved Domains (3) summary
    PRK02362
    Location:25569
    PRK02362; ski2-like helicase; Provisional
    cd00079
    Location:73225
    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 ...
    pfam14520
    Location:510569
    HHH_5; Helix-hairpin-helix domain
  3. NM_001297757.1NP_001284686.1  helicase POLQ-like isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in its 5' UTR and uses a downstream start codon, compared to variant 1. The encoded isoform (4) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC096768, BC111502, DB081240
    Conserved Domains (3) summary
    PRK02362
    Location:20522
    PRK02362; ski2-like helicase; Provisional
    cd00079
    Location:26178
    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 ...
    pfam14520
    Location:463522
    HHH_5; Helix-hairpin-helix domain
  4. NM_001297758.1NP_001284687.1  helicase POLQ-like isoform 5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) uses an alternate splice site in the 5' coding region, lacks several exons, and its 3'-terminal exon extends past a splice site that is used in variant 1. The encoded isoform (5) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AA150438, AC096768, AI627810, AK128665, BC095473, BM986846, DB081240
    UniProtKB/Swiss-Prot
    Q8TDG4
  5. NM_001297759.1NP_001284688.1  helicase POLQ-like isoform 6

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) lacks several exons, and its 3'-terminal exon extends past a splice site that is used in variant 1. The encoded isoform (6) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AA150438, AC096768, AI627810, AK128665, BC065814, BM986846, DB081240
    UniProtKB/Swiss-Prot
    Q8TDG4
  6. NM_133636.3NP_598375.2  helicase POLQ-like isoform 1

    See identical proteins and their annotated locations for NP_598375.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC096768, AF436845, BC111502, CK000270, DB081240
    Consensus CDS
    CCDS3603.1
    UniProtKB/Swiss-Prot
    Q8TDG4
    Related
    ENSP00000295488, OTTHUMP00000160977, ENST00000295488, OTTHUMT00000252810
    Conserved Domains (4) summary
    PRK02362
    Location:3181066
    PRK02362; ski2-like helicase; Provisional
    cd00046
    Location:360500
    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:570722
    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 ...
    pfam14520
    Location:10071066
    HHH_5; Helix-hairpin-helix domain

RNA

  1. NR_123737.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) uses an alternate splice site in the 5'-terminal exon, lacks several exons, and it's 3'-terminal exon extends past a splice site that is used in variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AA150438, AC096768, AI627810, AK128665, BM986846, DB081240

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p2 Primary Assembly

    Range
    83407343..83455883 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005262711.1XP_005262768.1  

    Conserved Domains (4) summary
    PRK02362
    Location:2811029
    PRK02362; ski2-like helicase; Provisional
    cd00046
    Location:323463
    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:533685
    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 ...
    pfam14520
    Location:9701029
    HHH_5; Helix-hairpin-helix domain
  2. XM_011531579.1XP_011529881.1  

    Conserved Domains (4) summary
    PRK02362
    Location:13694
    PRK02362; ski2-like helicase; Provisional
    cd00046
    Location:1128
    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:198350
    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 ...
    pfam14520
    Location:635694
    HHH_5; Helix-hairpin-helix domain
  3. XM_005262713.1XP_005262770.1  

    Conserved Domains (4) summary
    PRK02362
    Location:212960
    PRK02362; ski2-like helicase; Provisional
    cd00046
    Location:254394
    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:464616
    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 ...
    pfam14520
    Location:901960
    HHH_5; Helix-hairpin-helix domain
  4. XM_006714076.1XP_006714139.1  

    Conserved Domains (3) summary
    smart00487
    Location:331517
    DEXDc; DEAD-like helicases superfamily
    cd00046
    Location:360500
    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:570722
    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 ...
  5. XM_011531580.1XP_011529882.1  

    Related
    ENSP00000424186, OTTHUMP00000219794, ENST00000508591, OTTHUMT00000363956
    Conserved Domains (2) summary
    smart00487
    Location:331517
    DEXDc; DEAD-like helicases superfamily
    cd00046
    Location:360500
    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.

RNA

  1. XR_938683.1 RNA Sequence

  2. XR_938684.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018915.2 Alternate CHM1_1.1

    Range
    84305073..84353610 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)