Blm (BLM RecQ like helicase) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: Blm (BLM RecQ like helicase) Chinchilla lanigera
Analyze
Symbol: Blm
Name: BLM RecQ like helicase
RGD ID: 9044566
Description: ENCODES a protein that exhibits 3'-5' DNA helicase activity (ortholog); 8-hydroxy-2'-deoxyguanosine DNA binding (ortholog); ATP binding (ortholog); INVOLVED IN alpha-beta T cell differentiation (ortholog); alpha-beta T cell proliferation (ortholog); cellular response to camptothecin (ortholog); PARTICIPATES IN DNA replication pathway; homologous recombination pathway of double-strand break repair; ASSOCIATED WITH Bloom syndrome (ortholog); Breast Cancer, Familial (ortholog); colorectal cancer (ortholog); FOUND IN chromosome, telomeric region (ortholog); cytoplasm (ortholog); cytosol (ortholog)
Type: protein-coding
RefSeq Status: MODEL
Previously known as: Bloom syndrome RecQ like helicase; Bloom syndrome, RecQ helicase-like
RGD Orthologs
Human
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: ChiLan1.0 - Chinchilla ChiLan1.0 Assembly
Position:
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541614,842,033 - 14,899,687 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541614,814,753 - 14,899,865 (+)NCBIChiLan1.0ChiLan1.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
alpha-beta T cell differentiation  (ISO)
alpha-beta T cell proliferation  (ISO)
cellular response to camptothecin  (ISO)
cellular response to hydroxyurea  (ISO)
cellular response to ionizing radiation  (ISO)
cellular response to xenobiotic stimulus  (ISO)
chromosome organization  (ISO)
DN4 thymocyte differentiation  (ISO)
DNA damage response  (ISO)
DNA double-strand break processing  (ISO)
DNA duplex unwinding  (ISO)
DNA repair  (ISO)
DNA replication  (ISO)
double-strand break repair via homologous recombination  (ISO)
G-quadruplex DNA unwinding  (ISO)
immature T cell proliferation in thymus  (ISO)
mitotic G2 DNA damage checkpoint signaling  (ISO)
mitotic recombination  (ISO)
negative regulation of cell division  (ISO)
negative regulation of DNA recombination  (ISO)
negative regulation of mitotic recombination  (ISO)
negative regulation of thymocyte apoptotic process  (ISO)
positive regulation of alpha-beta T cell proliferation  (ISO)
positive regulation of DNA-templated transcription  (ISO)
positive regulation of double-strand break repair via homologous recombination  (ISO)
positive regulation of immature T cell proliferation in thymus  (ISO)
protein complex oligomerization  (ISO)
protein homooligomerization  (ISO)
regulation of DNA-templated DNA replication  (ISO)
replication fork processing  (ISO)
replication-born double-strand break repair via sister chromatid exchange  (ISO)
resolution of DNA recombination intermediates  (ISO)
response to X-ray  (ISO)
telomere maintenance  (ISO)
telomeric D-loop disassembly  (ISO)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Transitive Annotation Pipeline Automated assignment of GO, PW and RDO ISO annotations across species
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
Additional References at PubMed
PMID:22301074   PMID:30032202  


Genomics

Comparative Map Data
Blm
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541614,842,033 - 14,899,687 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541614,814,753 - 14,899,865 (+)NCBIChiLan1.0ChiLan1.0
BLM
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381590,717,346 - 90,816,166 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1590,717,346 - 90,816,166 (+)EnsemblGRCh38hg38GRCh38
GRCh371591,260,577 - 91,359,396 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361589,061,583 - 89,159,690 (+)NCBINCBI36Build 36hg18NCBI36
Build 341589,061,605 - 89,159,601NCBI
Celera1567,669,191 - 67,767,281 (+)NCBICelera
Cytogenetic Map15q26.1NCBI
HuRef1567,371,963 - 67,470,518 (+)NCBIHuRef
CHM1_11591,102,306 - 91,200,343 (+)NCBICHM1_1
T2T-CHM13v2.01588,475,676 - 88,575,539 (+)NCBIT2T-CHM13v2.0
Blm
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39780,104,839 - 80,184,896 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl780,104,481 - 80,184,867 (-)EnsemblGRCm39 Ensembl
GRCm38780,454,993 - 80,535,148 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl780,454,733 - 80,535,119 (-)EnsemblGRCm38mm10GRCm38
MGSCv37787,599,879 - 87,680,005 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36780,328,605 - 80,408,501 (-)NCBIMGSCv36mm8
Celera777,855,450 - 77,935,749 (-)NCBICelera
Cytogenetic Map7D2NCBI
cM Map745.65NCBI
Blm
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81143,819,072 - 143,905,300 (-)NCBIGRCr8
mRatBN7.21134,409,832 - 134,496,073 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1134,409,857 - 134,484,312 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.01142,246,773 - 142,332,616 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1142,246,790 - 142,332,588 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01143,198,619 - 143,285,603 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41136,271,573 - 136,358,077 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11136,350,811 - 136,606,090 (-)NCBI
Celera1126,469,103 - 126,554,926 (-)NCBICelera
Cytogenetic Map1q31NCBI
BLM
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21680,267,894 - 80,368,918 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11583,965,915 - 84,066,920 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01569,407,248 - 69,508,070 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11588,607,157 - 88,707,864 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1588,607,157 - 88,707,864 (+)Ensemblpanpan1.1panPan2
BLM
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1353,408,120 - 53,506,728 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl353,408,217 - 53,473,146 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha356,045,661 - 56,144,322 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0353,824,072 - 53,922,767 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl353,824,080 - 53,922,707 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1353,343,266 - 53,441,845 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0353,555,047 - 53,653,568 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0353,894,900 - 53,993,588 (-)NCBIUU_Cfam_GSD_1.0
Blm
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640130,038,668 - 130,140,428 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648316,194,092 - 16,255,905 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648316,194,092 - 16,295,803 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BLM
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl753,317,540 - 53,412,645 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1753,317,515 - 53,412,649 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2758,374,719 - 58,443,673 (+)NCBISscrofa10.2Sscrofa10.2susScr3
BLM
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1299,046,485 - 9,152,320 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl299,045,373 - 9,152,254 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605937,540,996 - 37,654,124 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Blm
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476817,421,291 - 17,522,799 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476817,422,267 - 17,522,894 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2


Expression


Sequence


Reference Sequences
RefSeq Acc Id: ENSCLAT00000017836   ⟹   ENSCLAP00000017662
Type: CODING
Position:
Chinchilla AssemblyChrPosition (strand)Source
ChiLan1.0 EnsemblNW_00495541614,842,033 - 14,899,687 (+)Ensembl
RefSeq Acc Id: XM_005381505   ⟹   XP_005381562
Type: CODING
Position:
Chinchilla AssemblyChrPosition (strand)Source
ChiLan1.0NW_00495541614,814,753 - 14,899,865 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005381506   ⟹   XP_005381563
Type: CODING
Position:
Chinchilla AssemblyChrPosition (strand)Source
ChiLan1.0NW_00495541614,815,225 - 14,899,865 (+)NCBI
Sequence:
RefSeq Acc Id: XM_013512656   ⟹   XP_013368110
Type: CODING
Position:
Chinchilla AssemblyChrPosition (strand)Source
ChiLan1.0NW_00495541614,838,659 - 14,899,865 (+)NCBI
Sequence:
RefSeq Acc Id: XM_013512657   ⟹   XP_013368111
Type: CODING
Position:
Chinchilla AssemblyChrPosition (strand)Source
ChiLan1.0NW_00495541614,814,753 - 14,890,806 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs XP_005381562 (Get FASTA)   NCBI Sequence Viewer  
  XP_005381563 (Get FASTA)   NCBI Sequence Viewer  
  XP_013368110 (Get FASTA)   NCBI Sequence Viewer  
  XP_013368111 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSCLAP00000017662
  ENSCLAP00000017662.1
Reference Protein Sequences
RefSeq Acc Id: XP_005381562   ⟸   XM_005381505
- Peptide Label: isoform X1
- UniProtKB: A0A8C2VU01 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005381563   ⟸   XM_005381506
- Peptide Label: isoform X1
- UniProtKB: A0A8C2VU01 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_013368111   ⟸   XM_013512657
- Peptide Label: isoform X2
- UniProtKB: A0A8C2VU01 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_013368110   ⟸   XM_013512656
- Peptide Label: isoform X1
- UniProtKB: A0A8C2VU01 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSCLAP00000017662   ⟸   ENSCLAT00000017836
Protein Domains
Helicase ATP-binding   Helicase C-terminal   HRDC


Additional Information

Database Acc Id Source(s)
Ensembl Genes ENSCLAG00000012111 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSCLAT00000017836 ENTREZGENE
  ENSCLAT00000017836.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.10.10 UniProtKB/TrEMBL
  1.10.150.80 UniProtKB/TrEMBL
  3.40.50.300 UniProtKB/TrEMBL
InterPro BDHCT UniProtKB/TrEMBL
  BDHCT_assoc UniProtKB/TrEMBL
  BLM_N UniProtKB/TrEMBL
  DEAD/DEAH_box_helicase_dom UniProtKB/TrEMBL
  DNA/RNA_helicase_DEAH_CS UniProtKB/TrEMBL
  DNA_helicase_ATP-dep_RecQ UniProtKB/TrEMBL
  Helicase_ATP-bd UniProtKB/TrEMBL
  Helicase_C UniProtKB/TrEMBL
  HRDC-like_sf UniProtKB/TrEMBL
  HRDC_dom UniProtKB/TrEMBL
  HRDC_dom_sf UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/TrEMBL
  RecQ_Zn-bd UniProtKB/TrEMBL
  RQC_domain UniProtKB/TrEMBL
  WH-like_DNA-bd_sf UniProtKB/TrEMBL
  WH_DNA-bd_sf UniProtKB/TrEMBL
NCBI Gene Blm ENTREZGENE
PANTHER BLOOM SYNDROME PROTEIN UniProtKB/TrEMBL
  DNA HELICASE RECQ FAMILY MEMBER UniProtKB/TrEMBL
Pfam BDHCT UniProtKB/TrEMBL
  BDHCT_assoc UniProtKB/TrEMBL
  BLM_N UniProtKB/TrEMBL
  DEAD UniProtKB/TrEMBL
  Helicase_C UniProtKB/TrEMBL
  HRDC UniProtKB/TrEMBL
  RecQ_Zn_bind UniProtKB/TrEMBL
  RQC UniProtKB/TrEMBL
PROSITE DEAH_ATP_HELICASE UniProtKB/TrEMBL
  HELICASE_ATP_BIND_1 UniProtKB/TrEMBL
  HELICASE_CTER UniProtKB/TrEMBL
  HRDC UniProtKB/TrEMBL
SMART DEXDc UniProtKB/TrEMBL
  HELICc UniProtKB/TrEMBL
  HRDC UniProtKB/TrEMBL
  RQC UniProtKB/TrEMBL
Superfamily-SCOP SSF46785 UniProtKB/TrEMBL
  SSF47819 UniProtKB/TrEMBL
  SSF52540 UniProtKB/TrEMBL
UniProt A0A8C2VU01 ENTREZGENE, UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-08-14 Blm  BLM RecQ like helicase    Bloom syndrome RecQ like helicase  Symbol and/or name change 5135510 APPROVED
2016-08-03 Blm  Bloom syndrome RecQ like helicase    Bloom syndrome, RecQ helicase-like  Symbol and/or name change 5135510 APPROVED