Details for: BLM

Gene ID: 641

Symbol: BLM

Ensembl ID: ENSG00000197299

Description: BLM RecQ like helicase

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 40.4384
    Cell Significance Index: -6.2900
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 31.8557
    Cell Significance Index: -8.0800
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 19.4212
    Cell Significance Index: -7.8900
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 8.5259
    Cell Significance Index: -8.1400
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 7.3158
    Cell Significance Index: -9.0200
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 3.1879
    Cell Significance Index: -8.5400
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 2.3394
    Cell Significance Index: -5.1200
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 2.2074
    Cell Significance Index: -6.7800
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.7526
    Cell Significance Index: 37.3300
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.7224
    Cell Significance Index: 170.3900
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 1.4764
    Cell Significance Index: 280.9700
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 1.1861
    Cell Significance Index: 61.7800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.8723
    Cell Significance Index: 48.9500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.8719
    Cell Significance Index: 141.8100
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.8232
    Cell Significance Index: 89.5400
  • Cell Name: seromucus secreting cell (CL0000159)
    Fold Change: 0.7974
    Cell Significance Index: 16.6300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.7685
    Cell Significance Index: 693.8700
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.5962
    Cell Significance Index: 35.7900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.4436
    Cell Significance Index: 88.0400
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.4141
    Cell Significance Index: 48.8300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.3949
    Cell Significance Index: 30.3100
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.3697
    Cell Significance Index: 9.8900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3087
    Cell Significance Index: 21.3500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.2624
    Cell Significance Index: 16.5400
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.2184
    Cell Significance Index: 5.5800
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.2104
    Cell Significance Index: 6.1800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.2040
    Cell Significance Index: 5.7000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.0981
    Cell Significance Index: 6.3300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0958
    Cell Significance Index: 11.1700
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0852
    Cell Significance Index: 2.1300
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.0771
    Cell Significance Index: 1.6000
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0623
    Cell Significance Index: 43.0600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0620
    Cell Significance Index: 33.8400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0581
    Cell Significance Index: 2.7100
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.0545
    Cell Significance Index: 0.6500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0333
    Cell Significance Index: 0.9600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0305
    Cell Significance Index: 6.1200
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0147
    Cell Significance Index: 6.5100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.0084
    Cell Significance Index: 0.2300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.0046
    Cell Significance Index: 0.1600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0037
    Cell Significance Index: 0.1300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0011
    Cell Significance Index: 2.0500
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0007
    Cell Significance Index: 0.0200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0004
    Cell Significance Index: 0.1600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0008
    Cell Significance Index: -1.4100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0016
    Cell Significance Index: -2.4900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0023
    Cell Significance Index: -0.0500
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.0028
    Cell Significance Index: -0.0300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0035
    Cell Significance Index: -0.1600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0039
    Cell Significance Index: -0.7000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0066
    Cell Significance Index: -9.0400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0096
    Cell Significance Index: -1.1800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0099
    Cell Significance Index: -6.2900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0120
    Cell Significance Index: -8.8400
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0126
    Cell Significance Index: -0.1800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0129
    Cell Significance Index: -9.7800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0135
    Cell Significance Index: -9.9700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0153
    Cell Significance Index: -6.9600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0170
    Cell Significance Index: -10.6300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0181
    Cell Significance Index: -1.1100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0187
    Cell Significance Index: -10.5400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0215
    Cell Significance Index: -0.6900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0284
    Cell Significance Index: -8.1800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0375
    Cell Significance Index: -5.4500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0388
    Cell Significance Index: -4.9700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0411
    Cell Significance Index: -5.6500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0504
    Cell Significance Index: -8.6100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0511
    Cell Significance Index: -10.7700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0524
    Cell Significance Index: -2.7200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0538
    Cell Significance Index: -5.5000
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.0543
    Cell Significance Index: -1.1600
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0578
    Cell Significance Index: -0.9900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0665
    Cell Significance Index: -8.5900
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0711
    Cell Significance Index: -1.1900
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0744
    Cell Significance Index: -1.5800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0775
    Cell Significance Index: -8.8800
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0779
    Cell Significance Index: -1.5400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0861
    Cell Significance Index: -8.9600
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0967
    Cell Significance Index: -6.8400
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.1002
    Cell Significance Index: -1.4800
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1131
    Cell Significance Index: -8.9600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1221
    Cell Significance Index: -9.1000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1302
    Cell Significance Index: -6.1200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1309
    Cell Significance Index: -8.8000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1396
    Cell Significance Index: -7.3300
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.1427
    Cell Significance Index: -2.4000
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.1546
    Cell Significance Index: -3.2400
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1564
    Cell Significance Index: -9.5900
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.1566
    Cell Significance Index: -2.3600
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: -0.1665
    Cell Significance Index: -1.6800
  • Cell Name: thymocyte (CL0000893)
    Fold Change: -0.1741
    Cell Significance Index: -2.2000
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.1747
    Cell Significance Index: -4.1900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1822
    Cell Significance Index: -8.0600
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1844
    Cell Significance Index: -5.4300
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.1968
    Cell Significance Index: -1.6100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1994
    Cell Significance Index: -7.5500
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2052
    Cell Significance Index: -7.1900
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.2268
    Cell Significance Index: -5.8300
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2395
    Cell Significance Index: -7.8400
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.2408
    Cell Significance Index: -7.6700

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Helicase Activity**: BLM is a RecQ-like helicase that exhibits 3'-5' DNA helicase activity, allowing it to unwind DNA strands. 2. **Telomere Maintenance**: BLM is essential for maintaining telomere length and stability through its involvement in telomere c-strand synthesis and telomere maintenance via semi-conservative replication. 3. **Homologous Recombination Repair**: BLM participates in homologous recombination repair (HRR) by unwinding and processing DNA double-strand breaks. 4. **DNA Damage Response**: BLM is involved in the DNA damage response, particularly in response to ionizing radiation and other forms of DNA damage. **Pathways and Functions:** 1. **DNA Replication**: BLM is involved in DNA replication, particularly in the unwinding and processing of DNA double-strand breaks during replication. 2. **Telomere Maintenance**: BLM maintains telomere length and stability through its involvement in telomere c-strand synthesis and telomere maintenance via semi-conservative replication. 3. **Homologous Recombination Repair**: BLM participates in HRR by unwinding and processing DNA double-strand breaks. 4. **DNA Damage Response**: BLM is involved in the DNA damage response, particularly in response to ionizing radiation and other forms of DNA damage. **Clinical Significance:** Mutations in the BLM gene have been associated with Bloom syndrome, a rare genetic disorder characterized by: 1. **Increased Cancer Risk**: Individuals with BLM mutations are at increased risk of developing various cancers, including breast, colon, and prostate cancer. 2. **Premature Aging**: BLM mutations are associated with premature aging, including wrinkles, age-related diseases, and reduced life expectancy. 3. **Genomic Instability**: BLM mutations lead to genomic instability, including chromosomal instability and increased susceptibility to DNA damage. In conclusion, the BLM gene plays a critical role in maintaining genomic stability through its involvement in DNA double-strand break repair, replication, and transcription. Mutations in the BLM gene have significant clinical implications, including increased cancer risk, premature aging, and genomic instability. Further research is needed to fully understand the mechanisms underlying BLM function and its clinical significance. **Implications for Therapeutic Strategies:** 1. **Targeting BLM**: Developing therapeutic strategies that target BLM, such as small molecule inhibitors or RNA interference, may provide a novel approach to treating BLM-related disorders. 2. **Genetic Counseling**: Genetic counseling and testing for individuals with BLM mutations can help identify those at increased risk of developing BLM-related disorders. 3. **Early Intervention**: Early intervention and management of BLM-related disorders may help reduce the risk of premature aging and genomic instability. In summary, the BLM gene is a critical component of the cellular machinery that maintains genomic stability. Mutations in the BLM gene have significant clinical implications, and further research is needed to develop effective therapeutic strategies for BLM-related disorders.

Genular Protein ID: 1285275157

Symbol: BLM_HUMAN

Name: Bloom syndrome protein

UniProtKB Accession Codes:

P54132 Q52M96

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 2 CORUM 1 CTD 1 ChEBI 14 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DisProt 1 EC 2 ELM 1 EMBL 6 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 64 Gene3D 3 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 16 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 15 PDBsum 15 PIR 1 PRO 1 PROSITE 4 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 8 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 17 RefSeq 4 Rhea 1 SIGNOR 1 SMART 4 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7585968

Title: The Bloom's syndrome gene product is homologous to RecQ helicases.

PubMed ID: 7585968

DOI: 10.1016/0092-8674(95)90105-1

PubMed ID: 9388193

Title: The Bloom's syndrome gene product is a 3'-5' DNA helicase.

PubMed ID: 9388193

DOI: 10.1074/jbc.272.49.30611

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9388480

Title: BLM (the causative gene of Bloom syndrome) protein translocation into the nucleus by a nuclear localization signal.

PubMed ID: 9388480

DOI: 10.1006/bbrc.1997.7648

PubMed ID: 9765292

Title: The Bloom's syndrome helicase unwinds G4 DNA.

PubMed ID: 9765292

DOI: 10.1074/jbc.273.42.27587

PubMed ID: 10783165

Title: BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures.

PubMed ID: 10783165

PubMed ID: 15257300

Title: BLM and the FANC proteins collaborate in a common pathway in response to stalled replication forks.

PubMed ID: 15257300

DOI: 10.1038/sj.emboj.7600277

PubMed ID: 12019152

Title: The BLM helicase is necessary for normal DNA double-strand break repair.

PubMed ID: 12019152

PubMed ID: 15775963

Title: BLAP75, an essential component of Bloom's syndrome protein complexes that maintain genome integrity.

PubMed ID: 15775963

DOI: 10.1038/sj.emboj.7600622

PubMed ID: 16595695

Title: A double Holliday junction dissolvasome comprising BLM, topoisomerase III alpha, and BLAP75.

PubMed ID: 16595695

DOI: 10.1074/jbc.c600051200

PubMed ID: 16964243

Title: A probability-based approach for high-throughput protein phosphorylation analysis and site localization.

PubMed ID: 16964243

DOI: 10.1038/nbt1240

PubMed ID: 17961633

Title: Interaction of human SUV3 RNA/DNA helicase with BLM helicase; loss of the SUV3 gene results in mouse embryonic lethality.

PubMed ID: 17961633

DOI: 10.1016/j.mad.2007.09.001

PubMed ID: 18923082

Title: RMI, a new OB-fold complex essential for Bloom syndrome protein to maintain genome stability.

PubMed ID: 18923082

DOI: 10.1101/gad.1708608

PubMed ID: 18923083

Title: BLAP18/RMI2, a novel OB-fold-containing protein, is an essential component of the Bloom helicase-double Holliday junction dissolvasome.

PubMed ID: 18923083

DOI: 10.1101/gad.1725108

PubMed ID: 18426915

Title: FANCJ helicase defective in Fanconia anemia and breast cancer unwinds G-quadruplex DNA to defend genomic stability.

PubMed ID: 18426915

DOI: 10.1128/mcb.02210-07

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21325134

Title: BLM-DNA2-RPA-MRN and EXO1-BLM-RPA-MRN constitute two DNA end resection machineries for human DNA break repair.

PubMed ID: 21325134

DOI: 10.1101/gad.2003811

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 23509288

Title: Scaffolding protein SPIDR/KIAA0146 connects the Bloom syndrome helicase with homologous recombination repair.

PubMed ID: 23509288

DOI: 10.1073/pnas.1220921110

PubMed ID: 25772364

Title: SUMO-2 orchestrates chromatin modifiers in response to DNA damage.

PubMed ID: 25772364

DOI: 10.1016/j.celrep.2015.02.033

PubMed ID: 25755297

Title: System-wide analysis of SUMOylation dynamics in response to replication stress reveals novel small ubiquitin-like modified target proteins and acceptor lysines relevant for genome stability.

PubMed ID: 25755297

DOI: 10.1074/mcp.o114.044792

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

DOI: 10.1038/nsmb.3366

PubMed ID: 32690953

Title: Vpu modulates DNA repair to suppress innate sensing and hyper-integration of HIV-1.

PubMed ID: 32690953

DOI: 10.1038/s41564-020-0753-6

PubMed ID: 34606619

Title: USP37 regulates DNA damage response through stabilizing and deubiquitinating BLM.

PubMed ID: 34606619

DOI: 10.1093/nar/gkab842

PubMed ID: 20639533

Title: Structure and function of the regulatory HRDC domain from human Bloom syndrome protein.

PubMed ID: 20639533

DOI: 10.1093/nar/gkq586

PubMed ID: 24257077

Title: Structure of the RecQ C-terminal domain of human Bloom syndrome protein.

PubMed ID: 24257077

DOI: 10.1038/srep03294

PubMed ID: 24816114

Title: Structure of human Bloom's syndrome helicase in complex with ADP and duplex DNA.

PubMed ID: 24816114

DOI: 10.1107/s139900471400501x

PubMed ID: 24435566

Title: Solution structure of the RecQ C-terminal domain of human Bloom syndrome protein.

PubMed ID: 24435566

DOI: 10.1007/s10858-014-9812-8

PubMed ID: 25901030

Title: Crystal structure of the Bloom's syndrome helicase indicates a role for the HRDC domain in conformational changes.

PubMed ID: 25901030

DOI: 10.1093/nar/gkv373

PubMed ID: 28228481

Title: A helical bundle in the N-terminal domain of the BLM helicase mediates dimer and potentially hexamer formation.

PubMed ID: 28228481

DOI: 10.1074/jbc.m116.761510

PubMed ID: 9285778

Title: Characterization of a new BLM mutation associated with a topoisomerase II alpha defect in a patient with Bloom's syndrome.

PubMed ID: 9285778

DOI: 10.1093/hmg/6.9.1427

PubMed ID: 10862105

Title: Identification of a novel BLM missense mutation (2706T>C) in a Moroccan patient with Bloom's syndrome.

PubMed ID: 10862105

DOI: 10.1002/1098-1004(200006)15:6<584::aid-humu28>3.0.co;2-i

Sequence Information:

  • Length: 1417
  • Mass: 159000
  • Checksum: 423DF5F381194E11
  • Sequence:
    • MAAVPQNNLQ EQLERHSART LNNKLSLSKP KFSGFTFKKK TSSDNNVSVT NVSVAKTPVL 
RNKDVNVTED FSFSEPLPNT TNQQRVKDFF KNAPAGQETQ RGGSKSLLPD FLQTPKEVVC 
TTQNTPTVKK SRDTALKKLE FSSSPDSLST INDWDDMDDF DTSETSKSFV TPPQSHFVRV 
STAQKSKKGK RNFFKAQLYT TNTVKTDLPP PSSESEQIDL TEEQKDDSEW LSSDVICIDD 
GPIAEVHINE DAQESDSLKT HLEDERDNSE KKKNLEEAEL HSTEKVPCIE FDDDDYDTDF 
VPPSPEEIIS ASSSSSKCLS TLKDLDTSDR KEDVLSTSKD LLSKPEKMSM QELNPETSTD 
CDARQISLQQ QLIHVMEHIC KLIDTIPDDK LKLLDCGNEL LQQRNIRRKL LTEVDFNKSD 
ASLLGSLWRY RPDSLDGPME GDSCPTGNSM KELNFSHLPS NSVSPGDCLL TTTLGKTGFS 
ATRKNLFERP LFNTHLQKSF VSSNWAETPR LGKKNESSYF PGNVLTSTAV KDQNKHTASI 
NDLERETQPS YDIDNFDIDD FDDDDDWEDI MHNLAASKSS TAAYQPIKEG RPIKSVSERL 
SSAKTDCLPV SSTAQNINFS ESIQNYTDKS AQNLASRNLK HERFQSLSFP HTKEMMKIFH 
KKFGLHNFRT NQLEAINAAL LGEDCFILMP TGGGKSLCYQ LPACVSPGVT VVISPLRSLI 
VDQVQKLTSL DIPATYLTGD KTDSEATNIY LQLSKKDPII KLLYVTPEKI CASNRLISTL 
ENLYERKLLA RFVIDEAHCV SQWGHDFRQD YKRMNMLRQK FPSVPVMALT ATANPRVQKD 
ILTQLKILRP QVFSMSFNRH NLKYYVLPKK PKKVAFDCLE WIRKHHPYDS GIIYCLSRRE 
CDTMADTLQR DGLAALAYHA GLSDSARDEV QQKWINQDGC QVICATIAFG MGIDKPDVRF 
VIHASLPKSV EGYYQESGRA GRDGEISHCL LFYTYHDVTR LKRLIMMEKD GNHHTRETHF 
NNLYSMVHYC ENITECRRIQ LLAYFGENGF NPDFCKKHPD VSCDNCCKTK DYKTRDVTDD 
VKSIVRFVQE HSSSQGMRNI KHVGPSGRFT MNMLVDIFLG SKSAKIQSGI FGKGSAYSRH 
NAERLFKKLI LDKILDEDLY INANDQAIAY VMLGNKAQTV LNGNLKVDFM ETENSSSVKK 
QKALVAKVSQ REEMVKKCLG ELTEVCKSLG KVFGVHYFNI FNTVTLKKLA ESLSSDPEVL 
LQIDGVTEDK LEKYGAEVIS VLQKYSEWTS PAEDSSPGIS LSSSRGPGRS AAEELDEEIP 
VSSHYFASKT RNERKRKKMP ASQRSKRRKT ASSGSKAKGG SATCRKISSK TKSSSIIGSS 
SASHTSQATS GANSKLGIMA PPKPINRPFL KPSYAFS

Genular Protein ID: 524980488

Symbol: H0YNU5_HUMAN

Name: N/A

UniProtKB Accession Codes:

H0YNU5

Database IDs:

ARBA 12 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 2 CTD 1 ChEBI 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EC 1 EMBL 3 Ensembl 2 ExpressionAtlas 1 GO 11 Gene3D 2 GeneTree 1 HGNC 1 InterPro 11 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OrthoDB 1 PANTHER 2 PROSITE 5 PeptideAtlas 2 Pfam 6 Proteomes 2 ProteomicsDB 2 RefSeq 1 SAM 1 SMART 2 SMR 1 SUPFAM 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 16964243

Title: A probability-based approach for high-throughput protein phosphorylation analysis and site localization.

PubMed ID: 16964243

DOI: 10.1038/nbt1240

PubMed ID: 16572171

Title: Analysis of the DNA sequence and duplication history of human chromosome 15.

PubMed ID: 16572171

DOI: 10.1038/nature04601

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

PubMed ID: 25772364

Title: SUMO-2 orchestrates chromatin modifiers in response to DNA damage.

PubMed ID: 25772364

DOI: 10.1016/j.celrep.2015.02.033

PubMed ID: 25755297

Title: System-wide analysis of SUMOylation dynamics in response to replication stress reveals novel small ubiquitin-like modified target proteins and acceptor lysines relevant for genome stability.

PubMed ID: 25755297

DOI: 10.1074/mcp.O114.044792

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

Sequence Information:

  • Length: 1286
  • Mass: 144472
  • Checksum: ECFA21B0D535FA58
  • Sequence:
    • MAAVPQNNLQ EQLERHSART LNNKLSLSKP KFSGFTFKKK TSSDNNVSVT NVSVAKTPVL 
RNKDVNVTED FSFSEPLPNT TNQQRVKDFF KNAPAGQETQ RGGSKSLLPD FLQTPKEVVC 
TTQNTPTVKK SRDTALKKLE FSSSPDSLST INDWDDMDDF DTSETSKSFV TPPQSHFVRV 
STAQKSKKGK RNFFKAQLYT TNTVKTDLPP PSSESEQIDL TEEQKDDSEW LSSDVICIDD 
GPIAEVHINE DAQESDSLKT HLEDERDNSE KKKNLEEAEL HSTEKVPCIE FDDDDYDTDF 
VPPSPEEIIS ASSSSSKCLS TLKDLDTSDR KEDVLSTSKD LLSKPEKMSM QELNPETSTD 
CDARQISLQQ QLIHVMEHIC KLIDTIPDDK LKLLDCGNEL LQQRNIRRKL LTEVDFNKSD 
ASLLGSLWRY RPDSLDGPME GDSCPTGNSM KELNFSHLPS NSVSPGDCLL TTTLGKTGFS 
ATRKNLFERP LFNTHLQKSF VSSNWAETPR LGKKNESSYF PGNVLTSTAV KDQNKHTASI 
NDLERETQPS YDIDNFDIDD FDDDDDWEDI MHNLAASKSS TAAYQPIKEG RPIKSVSERL 
SSAKTDCLPV SSTAQNINFS ESIQNYTDKS AQNLASRNLK HERFQSLSFP HTKEMMKIFH 
KKFGLHNFRT NQLEAINAAL LGEDCFILMP TGGGKSLCYQ LPACVSPGVT VVISPLRSLI 
VDQVQKLTSL DIPATYLTGD KTDSEATNIY LQLSKKDPII KLLYVTPEKI CASNRLISTL 
ENLYERKLLA RFVIDEAHCV SQWGHDFRQD YKRMNMLRQK FPSVPVMALT ATANPRVQKD 
ILTQLKILRP QVFSMSFNRH NLKYYVLPKK PKKVAFDCLE WIRKHHPYDS GIIYCLSRRE 
CDTMADTLQR DGLAALAYHA GLSDSARDEV QQKWINQDGC QVICATIAFG MGIDKPDVRF 
VIHASLPKSV EGYYQESGRA GRDGEISHCL LFYTYHDVTR LKRLIMMEKD GNHHTRETHF 
NNLYSMVHYC ENITECRRIQ LLAYFGENGF NPDFCKKHPD VSCDNCCKTK DYKTRDVTDD 
VKSIVRFVQE HSSSQGMRNI KHVGPSGRFT MNMLVDIFLE SLSSDPEVLL QIDGVTEDKL 
EKYGAEVISV LQKYSEWTSP AEDSSPGISL SSSRGPGRSA AEELDEEIPV SSHYFASKTR 
NERKRKKMPA SQRSKRRKTA SSGSKAKGGS ATCRKISSKT KSSSIIGSSS ASHTSQATSG 
ANSKLGIMAP PKPINRPFLK PSYAFS

Genular Protein ID: 690498366

Symbol: B7ZKN7_HUMAN

Name: N/A

UniProtKB Accession Codes:

B7ZKN7

Database IDs:

ARBA 16 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 2 CTD 1 ChEBI 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EC 1 EMBL 2 GO 13 Gene3D 3 InterPro 15 NCBI Taxonomy 1 NCBIfam 1 OrthoDB 1 PANTHER 2 PROSITE 7 PeptideAtlas 1 Pfam 7 RefSeq 1 SAM 1 SMART 4 SMR 1 SUPFAM 3

Citations:

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

Sequence Information:

  • Length: 1042
  • Mass: 117063
  • Checksum: A309494729FFE9D8
  • Sequence:
    • MEHICKLIDT IPDDKLKLLD CGNELLQQRN IRRKLLTEVD FNKSDASLLG SLWRYRPDSL 
DGPMEGDSCP TGNSMKELNF SHLPSNSVSP GDCLLTTTLG KTGFSATRKN LFERPLFNTH 
LQKSFVSSNW AETPRLGKKN ESSYFPGNVL TSTAVKDQNK HTASINDLER ETQPSYDIDN 
FDIDDFDDDD DWEDIMHNLA ASKSSTAAYQ PIKEGRPIKS VSERLSSAKT DCLPVSSTAQ 
NINFSESIQN YTDKSAQNLA SRNLKHERFQ SLSFPHTKEM MKIFHKKFGL HNFRTNQLEA 
INAALLGEDC FILMPTGGGK SLCYQLPACV SPGVTVVISP LRSLIVDQVQ KLTSLDIPAT 
YLTGDKTDSE ATNIYLQLSK KDPIIKLLYV TPEKICASNR LISTLENLYE RKLLARFVID 
EAHCVSQWGH DFRQDYKRMN MLRQKFPSVP VMALTATANP RVQKDILTQL KILRPQVFSM 
SFNRHNLKYY VLPKKPKKVA FDCLEWIRKH HPYDSGIIYC LSRRECDTMA DTLQRDGLAA 
LAYHAGLSDS ARDEVQQKWI NQDGCQVICA TIAFGMGIDK PDVRFVIHAS LPKSVEGYYQ 
ESGRAGRDGE ISHCLLFYTY HDVTRLKRLI MMEKDGNHHT RETHFNNLYS MVHYCENITE 
CRRIQLLAYF GENGFNPDFC KKHPDVSCDN CCKTKDYKTR DVTDDVKSIV RFVQEHSSSQ 
GMRNIKHVGP SGRFTMNMLV DIFLGSKSAK IQSGIFGKGS AYSRHNAERL FKKLILDKIL 
DEDLYINAND QAIAYVMLGN KAQTVLNDNL KVDFMETENS SSVKKQKALV AKVSQREEMV 
KKCLGELTEV CKSLGKVFGV HYFNIFNTVT LKKLAESLSS DPEVLLQIDG VTEDKLEKYG 
AEVISVLQKY SEWTSPAEDS SPGISLSSSR GPGRSAAEEL DEEIPVSSHY FASKTRNERK 
RKKMPASQRS KRRKTASSGS KAKGGSATCR KISSKTKSSS IIGSSSASHT SQATSGANSK 
LGIMAPPKPI NRPFLKPSYA FS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.