Details for: UNG

Gene ID: 7374

Symbol: UNG

Ensembl ID: ENSG00000076248

Description: uracil DNA glycosylase

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: 89.3631
    Cell Significance Index: -13.9000
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 42.2444
    Cell Significance Index: -10.7200
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 40.3813
    Cell Significance Index: -16.6400
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 36.7501
    Cell Significance Index: -14.9300
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 36.0711
    Cell Significance Index: -17.0300
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 15.6796
    Cell Significance Index: -14.9700
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 12.7742
    Cell Significance Index: -15.7500
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 5.4193
    Cell Significance Index: -14.5200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 5.0974
    Cell Significance Index: 504.2500
  • Cell Name: germ cell (CL0000586)
    Fold Change: 4.8737
    Cell Significance Index: 36.8000
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 4.2105
    Cell Significance Index: -16.6200
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 3.2102
    Cell Significance Index: -9.8600
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 2.0052
    Cell Significance Index: 120.3800
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 1.7275
    Cell Significance Index: 60.0300
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.6830
    Cell Significance Index: 183.0600
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.5960
    Cell Significance Index: 42.7700
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.4109
    Cell Significance Index: 229.4700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.9531
    Cell Significance Index: 111.0700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.6857
    Cell Significance Index: 47.4200
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.4727
    Cell Significance Index: 55.7400
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.4727
    Cell Significance Index: 12.4300
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.4638
    Cell Significance Index: 92.0400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.4101
    Cell Significance Index: 18.5900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.4023
    Cell Significance Index: 20.9000
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.3767
    Cell Significance Index: 5.1400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.3394
    Cell Significance Index: 10.8700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.3171
    Cell Significance Index: 63.6000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.2858
    Cell Significance Index: 7.7800
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.2824
    Cell Significance Index: 2.2600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.2724
    Cell Significance Index: 39.5900
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.2624
    Cell Significance Index: 3.3600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2564
    Cell Significance Index: 46.2200
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.2435
    Cell Significance Index: 107.6600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2418
    Cell Significance Index: 132.0700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.2352
    Cell Significance Index: 28.9200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.2303
    Cell Significance Index: 31.6300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.1923
    Cell Significance Index: 10.7900
  • Cell Name: glioblast (CL0000030)
    Fold Change: 0.1855
    Cell Significance Index: 1.1700
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.1684
    Cell Significance Index: 4.2100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.1592
    Cell Significance Index: 3.4500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1449
    Cell Significance Index: 4.1800
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.1356
    Cell Significance Index: 9.5900
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.1297
    Cell Significance Index: 1.4100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.1292
    Cell Significance Index: 3.4500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.1291
    Cell Significance Index: 6.0200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1097
    Cell Significance Index: 39.3300
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.0994
    Cell Significance Index: 5.1800
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.0922
    Cell Significance Index: 1.9300
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0818
    Cell Significance Index: 10.4900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0784
    Cell Significance Index: 2.1900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.0654
    Cell Significance Index: 4.2200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0601
    Cell Significance Index: 11.4300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.0435
    Cell Significance Index: 39.3100
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0323
    Cell Significance Index: 4.1700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0259
    Cell Significance Index: 1.5900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0255
    Cell Significance Index: 47.9700
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.0251
    Cell Significance Index: 0.2600
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0147
    Cell Significance Index: 10.1500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0144
    Cell Significance Index: 9.1600
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0105
    Cell Significance Index: 0.1800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0105
    Cell Significance Index: 1.8000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0011
    Cell Significance Index: -2.0300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0023
    Cell Significance Index: -3.4700
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0048
    Cell Significance Index: -3.5200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0059
    Cell Significance Index: -8.0700
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0061
    Cell Significance Index: -3.8000
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0063
    Cell Significance Index: -0.1600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0087
    Cell Significance Index: -6.4400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0102
    Cell Significance Index: -7.7500
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0179
    Cell Significance Index: -0.6300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0189
    Cell Significance Index: -0.8900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0213
    Cell Significance Index: -12.0400
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.0278
    Cell Significance Index: -0.8100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0287
    Cell Significance Index: -13.0400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0296
    Cell Significance Index: -3.0200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0307
    Cell Significance Index: -2.2900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0315
    Cell Significance Index: -9.0600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0450
    Cell Significance Index: -9.4800
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0461
    Cell Significance Index: -5.2600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0545
    Cell Significance Index: -1.1600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0662
    Cell Significance Index: -7.5900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0885
    Cell Significance Index: -5.5800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1061
    Cell Significance Index: -8.1400
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.1074
    Cell Significance Index: -1.6100
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.1287
    Cell Significance Index: -2.2800
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: -0.1357
    Cell Significance Index: -0.6600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1460
    Cell Significance Index: -8.9500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1474
    Cell Significance Index: -9.9100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1538
    Cell Significance Index: -16.0100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1539
    Cell Significance Index: -12.1900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1958
    Cell Significance Index: -10.2800
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.2077
    Cell Significance Index: -5.5600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2252
    Cell Significance Index: -9.9600
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: -0.2275
    Cell Significance Index: -1.3500
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.2493
    Cell Significance Index: -5.7600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.2564
    Cell Significance Index: -6.5900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.2633
    Cell Significance Index: -9.9700
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.3051
    Cell Significance Index: -7.4500
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.3062
    Cell Significance Index: -9.0200
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.3233
    Cell Significance Index: -5.5400

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. **Structure and Function:** UNG is a 2-oxoacid reductase that catalyzes the removal of uracil from DNA, converting it into a 2-hydroxyuracil intermediate. 2. **Specificity:** UNG has a high specificity for uracil, allowing it to recognize and remove this non-canonical base from DNA. 3. **Expression:** UNG is widely expressed in various cell types, including oocytes, neural progenitor cells, and epithelial cells of the nephron. **Pathways and Functions:** 1. **Base-Excision Repair (BER):** UNG is a key component of the BER pathway, which is responsible for repairing damaged DNA bases, including uracil, thymine, and adenine. 2. **Recognition and Association with Damaged Sites:** UNG recognizes and associates with sites containing uracil, facilitating its removal from DNA. 3. **Resolution of Abasic Sites (AP Sites):** UNG plays a crucial role in resolving abasic sites (AP sites), which are formed by the removal of uracil and other bases from DNA. **Clinical Significance:** 1. **Cancer:** Mutations in the UNG gene have been associated with an increased risk of cancer, highlighting its importance in maintaining genome stability. 2. **Neurodegenerative Diseases:** UNG has been implicated in neurodegenerative diseases, such as Alzheimer's and Parkinson's, where DNA damage and oxidative stress play a significant role. 3. **Congenital Abnormalities:** Mutations in the UNG gene have been linked to congenital abnormalities, including ophthalmological and neurological disorders. 4. **Immunology:** UNG has been shown to play a role in the regulation of immune responses, particularly in the context of somatic hypermutation of immunoglobulin genes. **Conclusion:** In conclusion, uracil DNA glycosylase (UNG) is a crucial enzyme involved in maintaining genome stability and preventing DNA damage. Its role in the base-excision repair pathway, recognition and association with damaged sites, and resolution of abasic sites make it an essential component of cellular health. The clinical significance of UNG mutations and its involvement in various diseases highlight the importance of this enzyme in human health and disease. **References:** * [Insert references to relevant studies and articles] **Recommendations:** * Further research is needed to elucidate the mechanisms of UNG-mediated DNA repair and its role in various diseases. * The development of therapies targeting UNG or its regulatory pathways may provide new avenues for treating diseases associated with DNA damage and genome instability. * The study of UNG's expression and function in different cell types may reveal new insights into its role in maintaining genome stability and preventing disease.

Genular Protein ID: 2738522304

Symbol: UNG_HUMAN

Name: N/A

UniProtKB Accession Codes:

P13051 A8K5M6 B2R8Y1 O00637 O00719 Q93028

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 3 EC 1 ELM 1 EMBL 11 EMDB 1 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 12 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HAMAP 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 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 22 PDBsum 22 PIR 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 4 RefSeq 2 SABIO-RK 1 SIGNOR 1 SMART 2 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2555154

Title: Molecular cloning of human uracil-DNA glycosylase, a highly conserved DNA repair enzyme.

PubMed ID: 2555154

DOI: 10.1002/j.1460-2075.1989.tb08464.x

PubMed ID: 7926048

Title: Structure of the gene for human uracil-DNA glycosylase and analysis of the promoter function.

PubMed ID: 7926048

DOI: 10.1016/0014-5793(94)01042-0

PubMed ID: 9016624

Title: Nuclear and mitochondrial uracil-DNA glycosylases are generated by alternative splicing and transcription from different positions in the UNG gene.

PubMed ID: 9016624

DOI: 10.1093/nar/25.4.750

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: 8332455

Title: Nuclear and mitochondrial forms of human uracil-DNA glycosylase are encoded by the same gene.

PubMed ID: 8332455

DOI: 10.1093/nar/21.11.2579

PubMed ID: 8670846

Title: Excision of cytosine and thymine from DNA by mutants of human uracil-DNA glycosylase.

PubMed ID: 8670846

DOI: 10.1002/j.1460-2075.1996.tb00710.x

PubMed ID: 8551605

Title: Human immunodeficiency virus type 1 Vpr protein binds to the uracil DNA glycosylase DNA repair enzyme.

PubMed ID: 8551605

DOI: 10.1128/jvi.70.2.697-704.1996

PubMed ID: 9753728

Title: Nuclear and mitochondrial splice forms of human uracil-DNA glycosylase contain a complex nuclear localisation signal and a strong classical mitochondrial localisation signal, respectively.

PubMed ID: 9753728

DOI: 10.1093/nar/26.20.4611

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: 18676834

Title: Ugene, a newly identified protein that is commonly overexpressed in cancer and binds uracil DNA glycosylase.

PubMed ID: 18676834

DOI: 10.1158/0008-5472.can-08-1259

PubMed ID: 18220336

Title: Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.

PubMed ID: 18220336

DOI: 10.1021/pr0705441

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

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: 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: 7697717

Title: Crystal structure and mutational analysis of human uracil-DNA glycosylase: structural basis for specificity and catalysis.

PubMed ID: 7697717

DOI: 10.1016/0092-8674(95)90290-2

PubMed ID: 7671300

Title: Crystal structure of human uracil-DNA glycosylase in complex with a protein inhibitor: protein mimicry of DNA.

PubMed ID: 7671300

DOI: 10.1016/0092-8674(95)90467-0

PubMed ID: 8900285

Title: A nucleotide-flipping mechanism from the structure of human uracil-DNA glycosylase bound to DNA.

PubMed ID: 8900285

DOI: 10.1038/384087a0

PubMed ID: 9724657

Title: Base excision repair initiation revealed by crystal structures and binding kinetics of human uracil-DNA glycosylase with DNA.

PubMed ID: 9724657

DOI: 10.1093/emboj/17.17.5214

PubMed ID: 12958596

Title: Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination.

PubMed ID: 12958596

DOI: 10.1038/ni974

PubMed ID: 15967827

Title: B cells from hyper-IgM patients carrying UNG mutations lack ability to remove uracil from ssDNA and have elevated genomic uracil.

PubMed ID: 15967827

DOI: 10.1084/jem.20050042

Sequence Information:

  • Length: 313
  • Mass: 34645
  • Checksum: A4B27E6198AFE9C0
  • Sequence:
    • MIGQKTLYSF FSPSPARKRH APSPEPAVQG TGVAGVPEES GDAAAIPAKK APAGQEEPGT 
PPSSPLSAEQ LDRIQRNKAA ALLRLAARNV PVGFGESWKK HLSGEFGKPY FIKLMGFVAE 
ERKHYTVYPP PHQVFTWTQM CDIKDVKVVI LGQDPYHGPN QAHGLCFSVQ RPVPPPPSLE 
NIYKELSTDI EDFVHPGHGD LSGWAKQGVL LLNAVLTVRA HQANSHKERG WEQFTDAVVS 
WLNQNSNGLV FLLWGSYAQK KGSAIDRKRH HVLQTAHPSP LSVYRGFFGC RHFSKTNELL 
QKSGKKPIDW KEL

Genular Protein ID: 3147571377

Symbol: E5KTA6_HUMAN

Name: N/A

UniProtKB Accession Codes:

E5KTA6

Database IDs:

ARBA 4 AlphaFoldDB 1 Antibodypedia 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EC 1 EMBL 41 ExpressionAtlas 1 GO 4 Gene3D 1 HAMAP 1 HAMAP-Rule 1 InterPro 4 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OrthoDB 1 PANTHER 2 PROSITE 1 PROSITE-ProRule 1 Pfam 1 RefSeq 1 RuleBase 1 SAM 1 SMART 3 SMR 1 SUPFAM 1 VEuPathDB 1

Citations:

PubMed ID: 20843780

Title: Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.

PubMed ID: 20843780

DOI: 10.1093/nar/gkq750

Sequence Information:

  • Length: 304
  • Mass: 33924
  • Checksum: 32998C244E47B215
  • Sequence:
    • MGVFCLGPWG LGRKLRTPGK GPLQLLSRLC GDHLQAIPAK KAPAGQEEPG TPPSSPLSAE 
QLDRIQRNKA AALLRLAARN VPVGFGESWK KHLSGEFGKP YFIKLMGFVA EERKHYTVYP 
PPHQVFTWTQ MCDIKDVKVV ILGQDPYHGP NQAHGLCFSV QRPVPPPPSL ENIYKELSTD 
IEDFVHPGHG DLSGWAKQGV LLLNAVLTVR AHQANSHKER GWEQFTDAVV SWLNQNSNGL 
VFLLWGSYAQ KKGSAIDRKR HHVLQTAHPS PLSVYRGFFG CRHFSKTNEL LQKSGKKPID 
WKEL

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.