1. Gene
  2. HELQ - helicase, POLQ like Gene

HELQ - helicase, POLQ like Gene

Homo sapiens

Also known as HEL308

Gene ID: 113510 | Gene type: protein coding

About HELQ

Cytogenetic location: 4q21.23 Genomic coordinates (GRCh38): 4:83,407,346-83,455,883 (from NCBI)

This gene has 6 transcripts (splice variants), 205 orthologues and 8 paralogues. Ubiquitous expression in adrenal (RPKM 4.5), ovary (RPKM 4.1) and 25 other tissues.

Summary

HEL308 is a single-stranded DNA-dependent ATPase and DNA helicase (Marini and Wood, 2002 [PubMed 11751861]).[supplied by OMIM, Mar 2008]

HELQ Products(6)

mRNA Protein Name
NM_001297755.2 NP_001284684.2 helicase POLQ-like isoform 2
NM_001297756.2 NP_001284685.1 helicase POLQ-like isoform 3
NM_001297757.2 NP_001284686.1 helicase POLQ-like isoform 4
NM_001297758.2 NP_001284687.2 helicase POLQ-like isoform 5
NM_001297759.2 NP_001284688.2 helicase POLQ-like isoform 6
NM_133636.5 NP_598375.3 helicase POLQ-like isoform 1

HELQ Protein Structure

DEAD

DEAD: DEAD/DEAH box helicase (347 - 505)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (638 - 712)

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  • 1101 a.a.
Protein Preferred Names Protein Names

helicase POLQ-like

DNA helicase HEL308

Related Diseases

Diseases Alias
Parkinsonism With Spasticity, X-Linked

X-Linked Parkinsonism-Spasticity Syndrome

XPDS

X-Linked Parkinsonism With Spasticity

Fanconi Anemia, Complementation Group C

Fanconi Anemia Complementation Group C

FANCC

Facc

Fac

Fa3

Fanconi Pancytopenia Type 3

Fanconi Pancytopenia, Type 3

Faces Syndrome

Facial Features , Anorexia, Cachexia, Eye And Skin Anomalies

Friedman-Goodman Syndrome

Abnormality Of The Face

Premature Menopause

Primary Ovarian Insufficiency

Premature Ovarian Failure

Hypergonadotropic Hypogonadism

Premature Ovarian Insufficiency

Menopause - Premature

Menopause Praecox

Menopause Premature

Menopause, Premature

Female Hypergonadotropic Hypogonadism

Hypergonadotrophic Ovarian Failure

Primary Female Hypogonadism

Pof - [Premature Ovarian Failure]

Ovarian Failure

Ovarian Secretion Suppression

Ovary Hyposecretion

Ovary Secretion Deficiency

Premature Menopause Nos

Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus HELQ VGNC VGNC:62790
Bos taurus HELQ VGNC VGNC:107247
Macaca mulatta HELQ VGNC VGNC:73192
Canis familiaris HELQ VGNC VGNC:41650
Mus musculus HELQ MGD MGI:2176740
Rattus norvegicus HELQ RGD RGD:1560216