BLM (BLM RecQ like helicase) - Rat Genome Database

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Gene: BLM (BLM RecQ like helicase) Sus scrofa
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Symbol: BLM
Name: BLM RecQ like helicase
RGD ID: 14135943
Description: ENCODES a protein that exhibits 3'-5' DNA helicase activity (inferred); 8-hydroxy-2'-deoxyguanosine DNA binding (inferred); ATP binding (inferred); INVOLVED IN alpha-beta T cell differentiation (ortholog); alpha-beta T cell proliferation (ortholog); cellular response to xenobiotic stimulus (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 cytoplasm (ortholog); male germ cell nucleus (ortholog); pronucleus (ortholog); INTERACTS WITH deoxynivalenol
Type: protein-coding
RefSeq Status: PROVISIONAL
Previously known as: Bloom syndrome protein; Bloom syndrome RecQ like helicase; recQ-like DNA helicase BLM
RGD Orthologs
Human
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: Sscrofa11.1 - Pig Sscrofa11.1 Assembly
Position:
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
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
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  (IEA)
cellular response to hydroxyurea  (IEA)
cellular response to ionizing radiation  (IEA)
cellular response to xenobiotic stimulus  (ISO)
chromosome organization  (ISO)
DN4 thymocyte differentiation  (ISO)
DNA damage response  (IEA)
DNA double-strand break processing  (IEA)
DNA geometric change  (ISO)
DNA recombination  (IEA)
DNA repair  (IEA,ISO)
DNA replication  (IBA,IEA)
double-strand break repair via homologous recombination  (IBA,IEA)
immature T cell proliferation in thymus  (ISO)
mitotic G2 DNA damage checkpoint signaling  (IEA)
mitotic recombination  (ISO)
negative regulation of cell division  (IEA)
negative regulation of DNA recombination  (IEA)
negative regulation of mitotic recombination  (ISO)
negative regulation of thymocyte apoptotic process  (ISO)
obsolete G-quadruplex DNA unwinding  (ISO)
positive regulation of alpha-beta T cell proliferation  (ISO)
positive regulation of DNA-templated transcription  (IEA)
positive regulation of double-strand break repair via homologous recombination  (ISO)
positive regulation of immature T cell proliferation in thymus  (ISO)
protein complex oligomerization  (IEA)
protein homooligomerization  (IEA)
regulation of cyclin-dependent protein serine/threonine kinase activity  (ISO)
replication fork processing  (IEA)
replication-born double-strand break repair via sister chromatid exchange  (ISO)
resolution of DNA recombination intermediates  (IEA)
response to X-ray  (IEA)
telomere maintenance  (IBA,IEA,ISO)
telomeric D-loop disassembly  (IEA)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References
Additional References at PubMed
PMID:18929858   PMID:22301074   PMID:30032202  


Genomics

Comparative Map Data
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
(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
(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
(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
(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

Variants

.
Variants in BLM
1880 total Variants

Expression

RNA-SEQ Expression

alimentary part of gastrointestinal system
circulatory system
ectoderm
endocrine system
endoderm
hemolymphoid system
mesenchyme
mesoderm
nervous system
renal system
reproductive system
respiratory system
10 4 23 3 2 5 14 12 23 3 6 3

Sequence


Ensembl Acc Id: ENSSSCT00000002034   ⟹   ENSSSCP00000001985
Type: CODING
Position:
Pig AssemblyChrPosition (strand)Source
Sscrofa11.1 Ensembl753,317,540 - 53,412,647 (+)Ensembl
Ensembl Acc Id: ENSSSCT00000002035   ⟹   ENSSSCP00000001986
Type: CODING
Position:
Pig AssemblyChrPosition (strand)Source
Sscrofa11.1 Ensembl753,317,540 - 53,412,645 (+)Ensembl
Ensembl Acc Id: ENSSSCT00000062097   ⟹   ENSSSCP00000044541
Type: CODING
Position:
Pig AssemblyChrPosition (strand)Source
Sscrofa11.1 Ensembl753,317,540 - 53,412,647 (+)Ensembl
Ensembl Acc Id: ENSSSCT00000067673   ⟹   ENSSSCP00000072344
Type: CODING
Position:
Pig AssemblyChrPosition (strand)Source
Sscrofa11.1 Ensembl753,317,540 - 53,408,453 (+)Ensembl
RefSeq Acc Id: NM_001123084   ⟹   NP_001116556
RefSeq Status: PROVISIONAL
Type: CODING
Position:
Pig AssemblyChrPosition (strand)Source
Sscrofa11.1753,343,862 - 53,412,495 (+)NCBI
Sequence:
RefSeq Acc Id: XM_021097881   ⟹   XP_020953540
Type: CODING
Position:
Pig AssemblyChrPosition (strand)Source
Sscrofa11.1753,317,516 - 53,412,649 (+)NCBI
Sequence:
RefSeq Acc Id: XM_021097882   ⟹   XP_020953541
Type: CODING
Position:
Pig AssemblyChrPosition (strand)Source
Sscrofa11.1753,317,515 - 53,412,495 (+)NCBI
Sequence:
RefSeq Acc Id: XM_021097883   ⟹   XP_020953542
Type: CODING
Position:
Pig AssemblyChrPosition (strand)Source
Sscrofa11.1753,348,739 - 53,412,467 (+)NCBI
Sequence:
RefSeq Acc Id: XM_021097884   ⟹   XP_020953543
Type: CODING
Position:
Pig AssemblyChrPosition (strand)Source
Sscrofa11.1753,317,516 - 53,412,467 (+)NCBI
Sequence:
RefSeq Acc Id: XM_021097885   ⟹   XP_020953544
Type: CODING
Position:
Pig AssemblyChrPosition (strand)Source
Sscrofa11.1753,317,564 - 53,412,467 (+)NCBI
Sequence:
RefSeq Acc Id: XP_020953541   ⟸   XM_021097882
- Peptide Label: isoform X2
- UniProtKB: A0A8D1L6Q2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_020953540   ⟸   XM_021097881
- Peptide Label: isoform X1
- UniProtKB: F1RMJ2 (UniProtKB/TrEMBL),   A0A8D0Q8M4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_020953543   ⟸   XM_021097884
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_020953544   ⟸   XM_021097885
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: NP_001116556   ⟸   NM_001123084
- UniProtKB: B0M1M9 (UniProtKB/TrEMBL),   A0A4X1UJ41 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_020953542   ⟸   XM_021097883
- Peptide Label: isoform X3
- Sequence:
Ensembl Acc Id: ENSSSCP00000001985   ⟸   ENSSSCT00000002034
Ensembl Acc Id: ENSSSCP00000001986   ⟸   ENSSSCT00000002035
Ensembl Acc Id: ENSSSCP00000044541   ⟸   ENSSSCT00000062097
Ensembl Acc Id: ENSSSCP00000072344   ⟸   ENSSSCT00000067673

Additional Information

Database Acc Id Source(s)
Ensembl Genes ENSSSCG00000001816 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
  ENSSSCG00015077734 UniProtKB/TrEMBL
  ENSSSCG00025061419 UniProtKB/TrEMBL
  ENSSSCG00035051429 UniProtKB/TrEMBL
  ENSSSCG00045032309 UniProtKB/TrEMBL
  ENSSSCG00070017090 UniProtKB/TrEMBL
Ensembl Transcript ENSSSCT00000002035 ENTREZGENE
  ENSSSCT00000002035.5 UniProtKB/TrEMBL
  ENSSSCT00015106876.1 UniProtKB/TrEMBL
  ENSSSCT00025084522.1 UniProtKB/TrEMBL
  ENSSSCT00035068511.1 UniProtKB/TrEMBL
  ENSSSCT00045055222.1 UniProtKB/TrEMBL
  ENSSSCT00070033693.1 UniProtKB/TrEMBL
  ENSSSCT00070033708.1 UniProtKB/TrEMBL
  ENSSSCT00070033722.1 UniProtKB/TrEMBL
  ENSSSCT00070033737.1 UniProtKB/TrEMBL
  ENSSSCT00070033748.1 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
KEGG Report ssc:100141304 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 A0A4X1UDS4_PIG UniProtKB/TrEMBL
  A0A4X1UIM9_PIG UniProtKB/TrEMBL
  A0A4X1UJ41 ENTREZGENE, UniProtKB/TrEMBL
  A0A4X1UJ66_PIG UniProtKB/TrEMBL
  A0A4X1UJ85_PIG UniProtKB/TrEMBL
  A0A8D0Q8M4 ENTREZGENE, UniProtKB/TrEMBL
  A0A8D1L6Q2 ENTREZGENE, UniProtKB/TrEMBL
  B0M1M9 ENTREZGENE, UniProtKB/TrEMBL
  F1RMJ2 ENTREZGENE, UniProtKB/TrEMBL
VGNC ID VGNC:96569 ENTREZGENE