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

Gene ID: 113510, updated on 21-Dec-2019

Summary

Official Symbol
HELQprovided by HGNC
Official Full Name
helicase, POLQ likeprovided by HGNC
Primary source
HGNC:HGNC:18536
See related
Ensembl:ENSG00000163312 MIM:606769
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]
Expression
Ubiquitous expression in adrenal (RPKM 4.5), ovary (RPKM 4.1) and 25 other tissues See more
Orthologs

Genomic context

See HELQ in Genome Data Viewer
Location:
4q21.23
Exon count:
18
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 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 heparanase Neighboring gene Sharpr-MPRA regulatory region 10996 Neighboring gene chromosome 18 open reading frame 21 pseudogene Neighboring gene Sharpr-MPRA regulatory region 5990 Neighboring gene mitochondrial ribosomal protein S18C Neighboring gene abraxas 1, BRCA1 A complex subunit Neighboring gene solute carrier family 25 member 14 pseudogene 1

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

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC20604

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
DNA binding IEA
Inferred from Electronic Annotation
more info
 
DNA helicase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
DNA duplex unwinding IEA
Inferred from Electronic Annotation
more info
 
double-strand break repair via homologous recombination IMP
Inferred from Mutant Phenotype
more info
PubMed 
maturation of SSU-rRNA IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

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.

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
    ENSP00000424539.1, ENST00000510985.1
    Conserved Domains (4) summary
    smart00490
    Location:567645
    HELICc; helicase superfamily c-terminal domain
    PRK02362
    Location:318999
    PRK02362; ski2-like helicase; Provisional
    pfam14520
    Location:946999
    HHH_5; Helix-hairpin-helix domain
    cl21455
    Location:345398
    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 (1) summary
    cl28230
    Location:25569
    Dob10; Superfamily II RNA helicase [Replication, recombination and repair]
  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
    smart00490
    Location:90168
    HELICc; helicase superfamily c-terminal domain
    PRK02362
    Location:20522
    PRK02362; ski2-like helicase; Provisional
    pfam14520
    Location:469522
    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_133636.4NP_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
    Consensus CDS
    CCDS3603.1
    UniProtKB/Swiss-Prot
    Q8TDG4
    Related
    ENSP00000295488.3, ENST00000295488.8
    Conserved Domains (4) summary
    smart00490
    Location:634712
    HELICc; helicase superfamily c-terminal domain
    PRK02362
    Location:3181066
    PRK02362; ski2-like helicase; Provisional
    pfam00270
    Location:345506
    DEAD; DEAD/DEAH box helicase
    pfam14520
    Location:10131066
    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 Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

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