Gene

blm

ID
ZDB-GENE-070702-5
Name
BLM RecQ like helicase
Symbol
blm Nomenclature History
Previous Names
None
Type
protein_coding_gene
Location
Chr: 18 Mapping Details/Browsers
Description
Predicted to have 3'-5' DNA helicase activity and four-way junction helicase activity. Involved in negative regulation of mitotic recombination. Predicted to localize to chromosome; cytoplasm; and nucleus. Is expressed in several structures, including otic vesicle; pericardial region; presumptive neural retina; retina; and ventricular system. Human ortholog(s) of this gene implicated in Bloom syndrome. Orthologous to human BLM (BLM RecQ like helicase).
Genome Resources
Note
None
Expression
All Expression Data
2 figures from 2 publications
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With blm Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Bloom syndrome Alliance Bloom syndrome 210900
Associated With blm Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR002464 DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site
Domain IPR001650 Helicase, C-terminal
Domain IPR002121 HRDC domain
Domain IPR011545 DEAD/DEAH box helicase domain
Domain IPR012532 BDHCT
Domain IPR014001 Helicase superfamily 1/2, ATP-binding domain
Domain IPR018982 RQC domain
Domain IPR032284 ATP-dependent DNA helicase RecQ, zinc-binding domain
Domain IPR032437 Bloom syndrome protein, N-terminal domain
Family IPR004589 DNA helicase, ATP-dependent, RecQ type
Homologous_superfamily IPR010997 HRDC-like superfamily
Homologous_superfamily IPR027417 P-loop containing nucleoside triphosphate hydrolase
Homologous_superfamily IPR036388 Winged helix-like DNA-binding domain superfamily
Homologous_superfamily IPR036390 Winged helix DNA-binding domain superfamily
Domain Details Per Protein
Protein Length ATP-dependent DNA helicase RecQ, zinc-binding domain BDHCT Bloom syndrome protein, N-terminal domain DEAD/DEAH box helicase domain DNA helicase, ATP-dependent, RecQ type DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site Helicase, C-terminal Helicase superfamily 1/2, ATP-binding domain HRDC domain HRDC-like superfamily P-loop containing nucleoside triphosphate hydrolase RQC domain Winged helix DNA-binding domain superfamily Winged helix-like DNA-binding domain superfamily
UniProtKB:E9QIQ5 852
UniProtKB:A0A2R8RUE4 1439
UniProtKB:E7EZY7 1420
UniProtKB:A0A2R8Q3W6 1409
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations