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. Human ortholog(s) of this gene implicated in Bloom syndrome. Is expressed in several structures, including otic vesicle; pericardial region; presumptive neural retina; retina; and ventricular system. Orthologous to human BLM (BLM RecQ like helicase).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
3 figures from 3 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
4 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
elu10Allele with one delinsUnknownUnknownCRISPR
hu3281Allele with one point mutationUnknownPremature StopENU
kh53Allele with one delinsUnknownFrameshiftnot specified
la013242TgTransgenic insertionUnknownUnknownDNA
la020360TgTransgenic insertionUnknownUnknownDNA
sa13236Allele with one point mutationUnknownSplice SiteENU
sa15754Allele with one point mutationUnknownPremature StopENU
sa16619Allele with one point mutationUnknownPremature StopENU
sa23311Allele with one point mutationUnknownPremature StopENU
sa31025Allele with one point mutationUnknownPremature StopENU
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Sequence Targeting Reagents
Targeting Reagent Created Alleles Citations
CRISPR1-blm (2)
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Human Disease
Associated With blm Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Bloom syndrome Alliance Bloom syndrome 210900
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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-like
Domain IPR002121 HRDC domain
Domain IPR011545 DEAD/DEAH box helicase domain
Domain IPR012532 BDHCT
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Domain Details Per Protein
Protein Length ATP-dependent DNA helicase RecQ, zinc-binding domain BDHCT DEAD/DEAH box helicase domain DNA helicase, ATP-dependent, RecQ type DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site Helicase, C-terminal domain-like Helicase superfamily 1/2, ATP-binding domain HRDC domain HRDC domain superfamily HRDC-like superfamily P-loop containing nucleoside triphosphate hydrolase RecQ-like DNA helicase BLM, N-terminal domain RQC domain Winged helix DNA-binding domain superfamily Winged helix-like DNA-binding domain superfamily
UniProtKB:A0A8M6YUA3 1450
UniProtKB:E7EZY7 1420
UniProtKB:A0A8M6YW51 1439
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 18
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA blm-201 (1) Ensembl 4,823 nt
mRNA blm-202 (1) Ensembl 2,795 nt
mRNA blm-204 (1) Ensembl 5,068 nt
mRNA blm-205 (1) Ensembl 5,158 nt
ncRNA blm-002 (1) Ensembl 412 nt
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Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
No data available
Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACCH211-234P18
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanBLM15
Conserved genome location (synteny) (1)
Amino acid sequence comparison (1)
Citations
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