Details for: DBR1

Gene ID: 51163

Symbol: DBR1

Ensembl ID: ENSG00000138231

Description: debranching RNA lariats 1

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: 70.0118
    Cell Significance Index: -10.8900
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 46.5614
    Cell Significance Index: -11.8100
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 28.4248
    Cell Significance Index: -13.4200
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 27.3472
    Cell Significance Index: -11.1100
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 11.6838
    Cell Significance Index: -11.1600
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 10.3086
    Cell Significance Index: -12.7100
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 4.6811
    Cell Significance Index: -12.5400
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 3.2932
    Cell Significance Index: -13.0000
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 2.9953
    Cell Significance Index: -9.2000
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.8897
    Cell Significance Index: 53.4100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.8115
    Cell Significance Index: 94.5700
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.7743
    Cell Significance Index: 699.1300
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.6900
    Cell Significance Index: 11.0700
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.6088
    Cell Significance Index: 99.0100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3858
    Cell Significance Index: 26.6800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.3106
    Cell Significance Index: 6.7300
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2234
    Cell Significance Index: 22.1000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1897
    Cell Significance Index: 8.6000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1774
    Cell Significance Index: 5.1100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1773
    Cell Significance Index: 78.4100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.1614
    Cell Significance Index: 32.3700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1597
    Cell Significance Index: 21.9300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1512
    Cell Significance Index: 28.7800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1423
    Cell Significance Index: 77.7400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1206
    Cell Significance Index: 15.4600
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1124
    Cell Significance Index: 77.7500
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.1091
    Cell Significance Index: 5.6900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1081
    Cell Significance Index: 19.4800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.1062
    Cell Significance Index: 21.0800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0922
    Cell Significance Index: 5.6700
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0908
    Cell Significance Index: 2.2700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0896
    Cell Significance Index: 32.1500
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: 0.0734
    Cell Significance Index: 1.0300
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.0674
    Cell Significance Index: 1.4100
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.0662
    Cell Significance Index: 1.4200
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0588
    Cell Significance Index: 4.1600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0583
    Cell Significance Index: 2.7200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0470
    Cell Significance Index: 2.6400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0463
    Cell Significance Index: 5.7000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0418
    Cell Significance Index: 1.4700
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0271
    Cell Significance Index: 1.7100
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0241
    Cell Significance Index: 1.2500
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0170
    Cell Significance Index: 0.2900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0022
    Cell Significance Index: 4.2000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0053
    Cell Significance Index: -9.7200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0061
    Cell Significance Index: -9.4400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0076
    Cell Significance Index: -5.5400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0079
    Cell Significance Index: -5.0100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0097
    Cell Significance Index: -13.1800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0106
    Cell Significance Index: -4.8100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0119
    Cell Significance Index: -0.7700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0120
    Cell Significance Index: -9.1200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0126
    Cell Significance Index: -0.5900
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0141
    Cell Significance Index: -0.3000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0148
    Cell Significance Index: -11.0000
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0181
    Cell Significance Index: -0.6300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0191
    Cell Significance Index: -0.5100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0208
    Cell Significance Index: -11.7200
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0213
    Cell Significance Index: -2.5100
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0242
    Cell Significance Index: -15.1200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0294
    Cell Significance Index: -3.0000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0312
    Cell Significance Index: -1.0000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0324
    Cell Significance Index: -5.5300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0345
    Cell Significance Index: -9.9300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0350
    Cell Significance Index: -5.0900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0381
    Cell Significance Index: -0.5200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0560
    Cell Significance Index: -7.2300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0578
    Cell Significance Index: -6.6200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0637
    Cell Significance Index: -1.7800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0703
    Cell Significance Index: -5.4000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0705
    Cell Significance Index: -14.8500
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0889
    Cell Significance Index: -2.4200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0922
    Cell Significance Index: -6.8700
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0990
    Cell Significance Index: -5.2000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.1015
    Cell Significance Index: -2.7200
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.1104
    Cell Significance Index: -0.9000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1207
    Cell Significance Index: -12.5700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1331
    Cell Significance Index: -8.9500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1369
    Cell Significance Index: -10.8400
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1426
    Cell Significance Index: -8.7400
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1576
    Cell Significance Index: -4.0300
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1582
    Cell Significance Index: -4.1600
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1585
    Cell Significance Index: -3.4700
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1860
    Cell Significance Index: -4.9800
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: -0.1871
    Cell Significance Index: -1.5900
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.1898
    Cell Significance Index: -5.5800
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1920
    Cell Significance Index: -3.2900
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.1984
    Cell Significance Index: -2.9900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2089
    Cell Significance Index: -9.2400
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.2091
    Cell Significance Index: -10.5700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.2278
    Cell Significance Index: -5.8600
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.2285
    Cell Significance Index: -5.4800
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.2477
    Cell Significance Index: -3.9300
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.2477
    Cell Significance Index: -9.3800
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.2703
    Cell Significance Index: -4.0500
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.2796
    Cell Significance Index: -3.0400
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2920
    Cell Significance Index: -9.5600
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.2948
    Cell Significance Index: -6.8100
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.2964
    Cell Significance Index: -8.7300
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2990
    Cell Significance Index: -10.4800

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. **Expression Pattern:** The DBR1 gene is expressed in a wide range of cell types, including polychromatophilic erythroblast, hematopoietic oligopotent progenitor cell, smooth muscle fiber of ileum, mucosal type mast cell, ciliated cell of the bronchus, and orthochromatic erythroblast. 2. **Protein Function:** The DBR1 gene encodes for the lariat debranching enzyme, a protein that plays a critical role in the removal of RNA lariats from pre-mRNA during the splicing process. 3. **Splicing Pathway:** The DBR1 gene is involved in the spliceosome-mediated splicing pathway, which is a complex process that involves the recognition and removal of introns from pre-mRNA. **Pathways and Functions:** 1. **RNA Splicing:** The DBR1 gene is involved in the spliceosome-mediated splicing pathway, which is essential for the removal of introns from pre-mRNA and the generation of mature mRNA. 2. **RNA Lariat Debranching:** The DBR1 gene encodes for the lariat debranching enzyme, which is responsible for the removal of RNA lariats from pre-mRNA during the splicing process. 3. **Metal Ion Binding:** The DBR1 gene is also involved in metal ion binding, which is essential for the proper functioning of the lariat debranching enzyme. **Clinical Significance:** 1. **Hematological Disorders:** Mutations in the DBR1 gene have been associated with hematological disorders, such as severe congenital neutropenia and Diamond-Blackfan anemia. 2. **Immune System:** The DBR1 gene is also expressed in immune cells, including T cells and B cells, and mutations in this gene may have implications for immune function and disease susceptibility. 3. **Gastrointestinal Disorders:** The DBR1 gene is expressed in smooth muscle cells of the ileum, and mutations in this gene may have implications for gastrointestinal disorders, such as inflammatory bowel disease. In conclusion, the DBR1 gene plays a critical role in RNA processing and is involved in various physiological processes, including splicing, metal ion binding, and RNA lariat debranching. Mutations in this gene have been associated with hematological disorders, immune system dysfunction, and gastrointestinal disorders, highlighting its importance in human health and disease.

Genular Protein ID: 83168081

Symbol: DBR1_HUMAN

Name: Lariat debranching enzyme

UniProtKB Accession Codes:

Q9UK59 Q96GH0 Q9NXQ6

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 10 DMDM 1 DNASU 1 DisGeNET 1 EMBL 3 Ensembl 1 ExpressionAtlas 1 GO 8 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 5 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 RefSeq 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10982890

Title: Human RNA lariat debranching enzyme cDNA complements the phenotypes of Saccharomyces cerevisiae dbr1 and Schizosaccharomyces pombe dbr1 mutants.

PubMed ID: 10982890

DOI: 10.1093/nar/28.18.3666

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

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: 2435736

Title: Purification of a RNA debranching activity from HeLa cells.

PubMed ID: 2435736

DOI: 10.1016/s0021-9258(18)61343-2

PubMed ID: 16232320

Title: DBR1 siRNA inhibition of HIV-1 replication.

PubMed ID: 16232320

DOI: 10.1186/1742-4690-2-63

PubMed ID: 17081983

Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.

PubMed ID: 17081983

DOI: 10.1016/j.cell.2006.09.026

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

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: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 23186163

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

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 29474921

Title: Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection.

PubMed ID: 29474921

DOI: 10.1016/j.cell.2018.02.019

PubMed ID: 37656279

Title: A founder DBR1 variant causes a lethal form of congenital ichthyosis.

PubMed ID: 37656279

DOI: 10.1007/s00439-023-02597-3

Sequence Information:

  • Length: 544
  • Mass: 61555
  • Checksum: DDA5F4FADA194BAA
  • Sequence:
    • MRVAVAGCCH GELDKIYETL ALAERRGPGP VDLLLCCGDF QAVRNEADLR CMAVPPKYRH 
MQTFYRYYSG EKKAPVLTLF IGGNHEASNH LQELPYGGWV APNIYYLGLA GVVKYRGVRI 
GGISGIFKSH DYRKGHFECP PYNSSTIRSI YHVRNIEVYK LKQLKQPIDI FLSHDWPRSI 
YHYGNKKQLL KTKSFFRQEV ENNTLGSPAA SELLEHLKPT YWFSAHLHVK FAALMQHQAK 
DKGQTARATK FLALDKCLPH RDFLQILEIE HDPSAPDYLE YDIEWLTILR ATDDLINVTG 
RLWNMPENNG LHARWDYSAT EEGMKEVLEK LNHDLKVPCN FSVTAACYDP SKPQTQMQLI 
HRINPQTTEF CAQLGIIDIN VRLQKSKEEH HVCGEYEEQD DVESNDSGED QSEYNTDTSA 
LSSINPDEIM LDEEEDEDSI VSAHSGMNTP SVEPSDQASE FSASFSDVRI LPGSMIVSSD 
DTVDSTIDRE GKPGGTVESG NGEDLTKVPL KRLSDEHEPE QRKKIKRRNQ AIYAAVDDDD 
DDAA

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.