Details for: XRCC6

Gene ID: 2547

Symbol: XRCC6

Ensembl ID: ENSG00000196419

Description: X-ray repair cross complementing 6

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: 419.1707
    Cell Significance Index: -65.2000
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 244.9502
    Cell Significance Index: -62.1300
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 204.0308
    Cell Significance Index: -84.0500
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 182.7414
    Cell Significance Index: -74.2400
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 175.5688
    Cell Significance Index: -82.8900
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 160.0163
    Cell Significance Index: -82.3100
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 124.3029
    Cell Significance Index: -83.4100
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 78.9218
    Cell Significance Index: -75.3500
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 63.7249
    Cell Significance Index: -78.5700
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 20.8132
    Cell Significance Index: -82.1300
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 18.8412
    Cell Significance Index: -57.8700
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 18.5041
    Cell Significance Index: -49.5700
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 12.7525
    Cell Significance Index: -27.9100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 7.1089
    Cell Significance Index: 828.4600
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 5.5337
    Cell Significance Index: 382.6800
  • Cell Name: germ cell (CL0000586)
    Fold Change: 4.1520
    Cell Significance Index: 31.3500
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 3.0189
    Cell Significance Index: 32.8200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 2.9368
    Cell Significance Index: 2651.7000
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 2.6539
    Cell Significance Index: 55.5500
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 2.6351
    Cell Significance Index: 91.5700
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 2.1250
    Cell Significance Index: 57.8400
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 2.0799
    Cell Significance Index: 54.6900
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 2.0010
    Cell Significance Index: 53.4300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 1.9682
    Cell Significance Index: 242.0100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.8666
    Cell Significance Index: 256.3400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 1.8239
    Cell Significance Index: 328.7900
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 1.7343
    Cell Significance Index: 204.5300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.6740
    Cell Significance Index: 124.7600
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.6703
    Cell Significance Index: 331.4800
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.6432
    Cell Significance Index: 13.1200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 1.5844
    Cell Significance Index: 102.2200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 1.5792
    Cell Significance Index: 74.2200
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 1.5347
    Cell Significance Index: 678.5500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 1.5071
    Cell Significance Index: 106.5900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.4630
    Cell Significance Index: 799.0100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 1.4610
    Cell Significance Index: 187.2900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.3522
    Cell Significance Index: 174.7000
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 1.3485
    Cell Significance Index: 17.2700
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 1.2614
    Cell Significance Index: 65.7100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 1.1883
    Cell Significance Index: 62.3900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.1360
    Cell Significance Index: 227.8900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.1173
    Cell Significance Index: 181.7200
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.0697
    Cell Significance Index: 64.2200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.0205
    Cell Significance Index: 47.5800
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.9076
    Cell Significance Index: 26.6600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.9073
    Cell Significance Index: 47.1300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.6462
    Cell Significance Index: 14.0000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.5987
    Cell Significance Index: 214.7500
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.5234
    Cell Significance Index: 12.0900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3858
    Cell Significance Index: 11.1200
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 0.3104
    Cell Significance Index: 5.4900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.3066
    Cell Significance Index: 52.3600
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.2621
    Cell Significance Index: 28.5100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1938
    Cell Significance Index: 36.8800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.1676
    Cell Significance Index: 12.8700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1510
    Cell Significance Index: 4.2200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0886
    Cell Significance Index: 4.9700
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.0863
    Cell Significance Index: 0.8000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0846
    Cell Significance Index: 159.2100
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0813
    Cell Significance Index: 56.2000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0808
    Cell Significance Index: 5.0900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0423
    Cell Significance Index: 31.9800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0140
    Cell Significance Index: 10.2300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0113
    Cell Significance Index: 17.3500
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0023
    Cell Significance Index: 0.2300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0001
    Cell Significance Index: 0.1700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0079
    Cell Significance Index: -5.8200
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0081
    Cell Significance Index: -0.1400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0112
    Cell Significance Index: -7.1400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0153
    Cell Significance Index: -20.8500
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0241
    Cell Significance Index: -0.6900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0454
    Cell Significance Index: -4.6400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0605
    Cell Significance Index: -27.4600
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.0789
    Cell Significance Index: -0.9400
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0808
    Cell Significance Index: -50.4300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0824
    Cell Significance Index: -46.4500
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.1440
    Cell Significance Index: -5.0600
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.1646
    Cell Significance Index: -1.8700
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1720
    Cell Significance Index: -5.5100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.1728
    Cell Significance Index: -4.6300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1856
    Cell Significance Index: -39.1000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2041
    Cell Significance Index: -23.3800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.2410
    Cell Significance Index: -69.3400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2699
    Cell Significance Index: -16.5900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.2793
    Cell Significance Index: -12.6600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.2920
    Cell Significance Index: -42.4400
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.3515
    Cell Significance Index: -8.9800
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.6099
    Cell Significance Index: -41.0100
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.6241
    Cell Significance Index: -8.5200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.6972
    Cell Significance Index: -72.5900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.7008
    Cell Significance Index: -12.0100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.7125
    Cell Significance Index: -17.8100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.7153
    Cell Significance Index: -56.6500
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.7353
    Cell Significance Index: -83.9300
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.7596
    Cell Significance Index: -14.0400
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.9920
    Cell Significance Index: -26.5400
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -1.0768
    Cell Significance Index: -31.7200
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -1.1461
    Cell Significance Index: -29.4600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -1.1661
    Cell Significance Index: -51.5800
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -1.2348
    Cell Significance Index: -17.3200

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. **Function**: XRCC6 is a scaffold protein that interacts with other proteins involved in the non-homologous end joining (NHEJ) pathway to facilitate the repair of DNA breaks. 2. **Expression**: The gene is highly expressed in various cell types, including hematopoietic cells, epithelial cells, and immune cells. 3. **Localization**: XRCC6 is localized to the nucleus and cytosol, where it interacts with other proteins involved in the NHEJ pathway. 4. **Pathway involvement**: XRCC6 is involved in the NHEJ pathway, which is one of the primary mechanisms for repairing DNA damage caused by ionizing radiation. 5. **Clinical significance**: Abnormalities in the XRCC6 gene have been associated with genetic disorders, such as X-linked genetic disorders and immunodeficiency diseases. **Pathways and Functions** 1. **Non-homologous end joining (NHEJ)**: XRCC6 is involved in the NHEJ pathway, which is a primary mechanism for repairing DNA damage caused by ionizing radiation. 2. **DNA repair**: XRCC6 plays a crucial role in the repair of double-strand breaks in DNA, which are caused by ionizing radiation and other forms of DNA damage. 3. **Cellular response to DNA damage**: XRCC6 is involved in the cellular response to DNA damage, including the activation of DNA repair pathways and the induction of cell cycle checkpoints. 4. **Immune system**: XRCC6 is highly expressed in immune cells, where it plays a crucial role in the repair of DNA damage caused by viral infections and other forms of immune activation. 5. **Telomere maintenance**: XRCC6 is also involved in the maintenance of telomeres, which are repetitive DNA sequences that cap the ends of chromosomes. **Clinical Significance** 1. **Genetic disorders**: Abnormalities in the XRCC6 gene have been associated with genetic disorders, such as X-linked genetic disorders and immunodeficiency diseases. 2. **Cancer**: XRCC6 is involved in the repair of DNA damage caused by ionizing radiation, which is a common cause of cancer. 3. **Infectious diseases**: XRCC6 is involved in the repair of DNA damage caused by viral infections, which can lead to immunodeficiency diseases. 4. **Immunodeficiency diseases**: XRCC6 is highly expressed in immune cells, where it plays a crucial role in the repair of DNA damage caused by viral infections and other forms of immune activation. 5. **Telomere maintenance**: XRCC6 is also involved in the maintenance of telomeres, which can lead to premature aging and age-related diseases. In conclusion, the XRCC6 gene plays a crucial role in the repair of DNA damage caused by ionizing radiation and other forms of DNA damage. Abnormalities in the XRCC6 gene have been associated with genetic disorders, cancer, infectious diseases, and immunodeficiency diseases. Further research is needed to fully understand the function and clinical significance of the XRCC6 gene.

Genular Protein ID: 2915618585

Symbol: XRCC6_HUMAN

Name: X-ray repair cross-complementing protein 6

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 2917966

Title: Cloning and characterization of a cDNA that encodes a 70-kDa novel human thyroid autoantigen.

PubMed ID: 2917966

DOI: 10.1016/s0021-9258(19)84898-6

PubMed ID: 2466842

Title: Molecular cloning of cDNA encoding the p70 (Ku) lupus autoantigen.

PubMed ID: 2466842

DOI: 10.1016/s0021-9258(18)83697-3

PubMed ID: 1608402

Title: Nucleotide sequence and genomic structure analyses of the p70 subunit of the human Ku autoantigen: evidence for a family of genes encoding Ku (p70)-related polypeptides.

PubMed ID: 1608402

DOI: 10.1007/bf00419754

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 10591208

Title: The DNA sequence of human chromosome 22.

PubMed ID: 10591208

DOI: 10.1038/990031

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: 1537839

Title: Identification of proteins binding to interferon-inducible transcriptional enhancers in hematopoietic cells.

PubMed ID: 1537839

DOI: 10.1016/s0021-9258(18)42866-9

PubMed ID: 8605992

Title: Non-histone protein 1 (NHP1) is a member of the Ku protein family which is upregulated in differentiating mouse myoblasts and human promyelocytes.

PubMed ID: 8605992

DOI: 10.1016/0014-5793(96)00189-5

PubMed ID: 8621488

Title: The interaction between Ku antigen and REF1 protein mediates negative gene regulation by extracellular calcium.

PubMed ID: 8621488

DOI: 10.1074/jbc.271.15.8593

PubMed ID: 7882982

Title: Purification of the sequence-specific transcription factor CTCBF, involved in the control of human collagen IV genes: subunits with homology to Ku antigen.

PubMed ID: 7882982

DOI: 10.1002/j.1460-2075.1995.tb07057.x

PubMed ID: 7957065

Title: Human DNA helicase II: a novel DNA unwinding enzyme identified as the Ku autoantigen.

PubMed ID: 7957065

DOI: 10.1002/j.1460-2075.1994.tb06826.x

PubMed ID: 9362500

Title: Double-strand break repair by Ku70 requires heterodimerization with Ku80 and DNA binding functions.

PubMed ID: 9362500

DOI: 10.1093/emboj/16.22.6874

PubMed ID: 9742108

Title: Productive and nonproductive complexes of Ku and DNA-dependent protein kinase at DNA termini.

PubMed ID: 9742108

DOI: 10.1128/mcb.18.10.5908

PubMed ID: 10026262

Title: DNA-dependent protein kinase phosphorylation sites in Ku 70/80 heterodimer.

PubMed ID: 10026262

DOI: 10.1021/bi982584b

PubMed ID: 10377944

Title: Ku, a DNA repair protein with multiple cellular functions?

PubMed ID: 10377944

DOI: 10.1016/s0921-8777(99)00006-3

PubMed ID: 10219089

Title: Isolation of Ku70-binding proteins (KUBs).

PubMed ID: 10219089

DOI: 10.1093/nar/27.10.2165

PubMed ID: 12509254

Title: Defining interactions between DNA-PK and ligase IV/XRCC4.

PubMed ID: 12509254

DOI: 10.1016/s1568-7864(01)00018-0

PubMed ID: 12145306

Title: Regulation of osteocalcin gene expression by a novel Ku antigen transcription factor complex.

PubMed ID: 12145306

DOI: 10.1074/jbc.m206482200

PubMed ID: 12547193

Title: Coordinated assembly of Ku and p460 subunits of the DNA-dependent protein kinase on DNA ends is necessary for XRCC4-ligase IV recruitment.

PubMed ID: 12547193

DOI: 10.1016/s0022-2836(02)01328-1

PubMed ID: 14654843

Title: Proteomic characterization of the human centrosome by protein correlation profiling.

PubMed ID: 14654843

DOI: 10.1038/nature02166

PubMed ID: 15075319

Title: Positive and negative modulation of the transcriptional activity of the ETS factor ESE-1 through interaction with p300, CREB-binding protein, and Ku 70/86.

PubMed ID: 15075319

DOI: 10.1074/jbc.m401356200

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: 20493174

Title: 55K isoform of CDK9 associates with Ku70 and is involved in DNA repair.

PubMed ID: 20493174

DOI: 10.1016/j.bbrc.2010.05.092

PubMed ID: 23972994

Title: ABH2 couples regulation of ribosomal DNA transcription with DNA alkylation repair.

PubMed ID: 23972994

DOI: 10.1016/j.celrep.2013.07.027

PubMed ID: 23689425

Title: Identification and functional characterization of a Ku-binding motif in aprataxin polynucleotide kinase/phosphatase-like factor (APLF).

PubMed ID: 23689425

DOI: 10.1074/jbc.m112.440388

PubMed ID: 27063109

Title: The Ku-binding motif is a conserved module for recruitment and stimulation of non-homologous end-joining proteins.

PubMed ID: 27063109

DOI: 10.1038/ncomms11242

PubMed ID: 20383123

Title: Ku is a 5'-dRP/AP lyase that excises nucleotide damage near broken ends.

PubMed ID: 20383123

DOI: 10.1038/nature08926

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: 23213405

Title: Taperin (c9orf75), a mutated gene in nonsyndromic deafness, encodes a vertebrate specific, nuclear localized protein phosphatase one alpha (PP1alpha) docking protein.

PubMed ID: 23213405

DOI: 10.1242/bio.2011049

PubMed ID: 22223895

Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.

PubMed ID: 22223895

DOI: 10.1074/mcp.m111.015131

PubMed ID: 22442688

Title: Deformed epidermal autoregulatory factor-1 (DEAF1) interacts with the Ku70 subunit of the DNA-dependent protein kinase complex.

PubMed ID: 22442688

DOI: 10.1371/journal.pone.0033404

PubMed ID: 23685356

Title: HOT1 is a mammalian direct telomere repeat-binding protein contributing to telomerase recruitment.

PubMed ID: 23685356

DOI: 10.1038/emboj.2013.105

PubMed ID: 23186163

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

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24610814

Title: A human short open reading frame (sORF)-encoded polypeptide that stimulates DNA end joining.

PubMed ID: 24610814

DOI: 10.1074/jbc.c113.533968

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: 25218447

Title: Uncovering global SUMOylation signaling networks in a site-specific manner.

PubMed ID: 25218447

DOI: 10.1038/nsmb.2890

PubMed ID: 24598253

Title: PARP3 affects the relative contribution of homologous recombination and nonhomologous end-joining pathways.

PubMed ID: 24598253

DOI: 10.1093/nar/gku174

PubMed ID: 25852083

Title: DNA-dependent protein kinase (DNA-PK) permits vascular smooth muscle cell proliferation through phosphorylation of the orphan nuclear receptor NOR1.

PubMed ID: 25852083

DOI: 10.1093/cvr/cvv126

PubMed ID: 25941166

Title: XLS (c9orf142) is a new component of mammalian DNA double-stranded break repair.

PubMed ID: 25941166

DOI: 10.1038/cdd.2015.22

PubMed ID: 25670504

Title: Interactome analysis identifies a new paralogue of XRCC4 in non-homologous end joining DNA repair pathway.

PubMed ID: 25670504

DOI: 10.1038/ncomms7233

PubMed ID: 26359349

Title: Heat shock factor 1, an inhibitor of non-homologous end joining repair.

PubMed ID: 26359349

DOI: 10.18632/oncotarget.5073

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 25574025

Title: DNA repair. PAXX, a paralog of XRCC4 and XLF, interacts with Ku to promote DNA double-strand break repair.

PubMed ID: 25574025

DOI: 10.1126/science.1261971

PubMed ID: 27601299

Title: Specific roles of XRCC4 paralogs PAXX and XLF during V(D)J recombination.

PubMed ID: 27601299

DOI: 10.1016/j.celrep.2016.08.069

PubMed ID: 27705800

Title: PAXX is an accessory c-NHEJ factor that associates with Ku70 and has overlapping functions with XLF.

PubMed ID: 27705800

DOI: 10.1016/j.celrep.2016.09.026

PubMed ID: 28712728

Title: HEXIM1 and NEAT1 Long non-coding RNA form a multi-subunit complex that regulates DNA-mediated innate immune response.

PubMed ID: 28712728

DOI: 10.1016/j.molcel.2017.06.020

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: 28959974

Title: Regulation of DNA repair pathway choice in S and G2 phases by the NHEJ inhibitor CYREN.

PubMed ID: 28959974

DOI: 10.1038/nature24023

PubMed ID: 29769340

Title: non-homologous end joining (NHEJ).

PubMed ID: 29769340

DOI: 10.1128/jvi.00672-18

PubMed ID: 29490055

Title: ATF7 mediates TNF-alpha-induced telomere shortening.

PubMed ID: 29490055

DOI: 10.1093/nar/gky155

PubMed ID: 11457852

Title: The three-dimensional structure of the C-terminal DNA-binding domain of human Ku70.

PubMed ID: 11457852

DOI: 10.1074/jbc.m105238200

PubMed ID: 11493912

Title: Structure of the Ku heterodimer bound to DNA and its implications for double-strand break repair.

PubMed ID: 11493912

DOI: 10.1038/35088000

PubMed ID: 34352203

Title: Cryo-EM of NHEJ supercomplexes provides insights into DNA repair.

PubMed ID: 34352203

DOI: 10.1016/j.molcel.2021.07.005

PubMed ID: 33854234

Title: Structural basis of long-range to short-range synaptic transition in NHEJ.

PubMed ID: 33854234

DOI: 10.1038/s41586-021-03458-7

Sequence Information:

  • Length: 609
  • Mass: 69843
  • Checksum: BBD3CD434526DFCB
  • Sequence:
  • MSGWESYYKT EGDEEAEEEQ EENLEASGDY KYSGRDSLIF LVDASKAMFE SQSEDELTPF 
    DMSIQCIQSV YISKIISSDR DLLAVVFYGT EKDKNSVNFK NIYVLQELDN PGAKRILELD 
    QFKGQQGQKR FQDMMGHGSD YSLSEVLWVC ANLFSDVQFK MSHKRIMLFT NEDNPHGNDS 
    AKASRARTKA GDLRDTGIFL DLMHLKKPGG FDISLFYRDI ISIAEDEDLR VHFEESSKLE 
    DLLRKVRAKE TRKRALSRLK LKLNKDIVIS VGIYNLVQKA LKPPPIKLYR ETNEPVKTKT 
    RTFNTSTGGL LLPSDTKRSQ IYGSRQIILE KEETEELKRF DDPGLMLMGF KPLVLLKKHH 
    YLRPSLFVYP EESLVIGSST LFSALLIKCL EKEVAALCRY TPRRNIPPYF VALVPQEEEL 
    DDQKIQVTPP GFQLVFLPFA DDKRKMPFTE KIMATPEQVG KMKAIVEKLR FTYRSDSFEN 
    PVLQQHFRNL EALALDLMEP EQAVDLTLPK VEAMNKRLGS LVDEFKELVY PPDYNPEGKV 
    TKRKHDNEGS GSKRPKVEYS EEELKTHISK GTLGKFTVPM LKEACRAYGL KSGLKKQELL 
    EALTKHFQD

Genular Protein ID: 3890355496

Symbol: B4DE32_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Sequence Information:

  • Length: 559
  • Mass: 64241
  • Checksum: 92F110650F2CA3D3
  • Sequence:
  • MKKQRKNKKR TLKQVCIQSV YISKIISSDL DLLAVVFYGT EKDKNSVNFK NIYVLQELDN 
    PGAKRILELD QFKGQQGQKR FQDMMGHGSD YSLSEVLWVC ANLFSDVQFK MSHKRIMLFT 
    NEDNPHGNDS AKASRARTKA GDLRDTGIFL DLMHLKKPGG FDISLFYRDI ISIAEDEDLR 
    VHFEESSKLE DLLRKVRAKE TRKRALSRLK LKLNKDIVIS VGIYNLVQKA LKPPPIKLYR 
    ETNEPVKTKT RTFNTSTGGL LLPSDTKRSQ IYGSRQIILE KEETEELKRF DDPGLMLMGF 
    KPLVLLKKHH YLRPSLFVYP EESLVIGSST LFSALLIKCL EKEVAALCRY TPRRNIPPYF 
    VALVPQEEEL DDQKIQVTPP GFQLVFLPFA DDKRKMPFTE KIMATPEQVG KMKAIVEKLR 
    FTYRSDSFEN PVLQQHFRNL EALALDLMEP EQAVDLTLPK VEAMNKRLGS LVDEFKELVY 
    PPDYNPEGKV TKRKHDNEGS GSKRPKVEYS EEELKTHISK GTLGKFTVPM LKEACRAYGL 
    KSGLKKQELL EALTKHFQD

Genular Protein ID: 4071021555

Symbol: B4E356_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Sequence Information:

  • Length: 476
  • Mass: 54452
  • Checksum: F5EA3430A82A1EBD
  • Sequence:
  • MMGHGSDYSL SEVLWVCANL FSDVQFKMSH KRIMLFTNED NPHGNDSAKA SRARTKAGDL 
    RDTGIFLDLM HLKKPGGFDI SLFYRDIISI AEDEDLRVHF EESSKLEDLL RKVRAKETRK 
    RALSRLKLKL NKDIVISVGI YNLVQKALKP PPIKLYRETN EPVKTKTRTF NTSTGGLLLP 
    SDTKGSQIYG SRQIILEKEE TEELKRFDDP GLMLMGFKPL VLLKKHHYLR PSLFVYPEES 
    LVIGSSTLFS ALLIKCLEKE VAALCRYTPR RNIPPYFVAL VPQEEELDDQ KIQVTPPGFQ 
    LVFLPFADDK RKMPFTEKIM ATPEQVGKMK AIVEKLRFTY RSDSFENPVL QQHFRNLEAL 
    ALDLMEPEQA VDLTLPKVEA MNKRLGSLVD EFKELVYPPD YNPEGKVTKR KHDNEGSGSK 
    RPKVEYSEEE LKTHISKGTL GKFTVPMLKE ACRAYGLKSG LKKQELLEAL TKHFQD

Genular Protein ID: 4067411206

Symbol: B1AHC9_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 10591208

Title: The DNA sequence of human chromosome 22.

PubMed ID: 10591208

DOI: 10.1038/990031

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: 18477386

Title: Finishing the finished human chromosome 22 sequence.

PubMed ID: 18477386

DOI: 10.1186/gb-2008-9-5-r78

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: 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

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: 25218447

Title: Uncovering global SUMOylation signaling networks in a site-specific manner.

PubMed ID: 25218447

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

PubMed ID: 28112733

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

PubMed ID: 28112733

Sequence Information:

  • Length: 559
  • Mass: 64284
  • Checksum: 92F7F26A448CA3D3
  • Sequence:
  • MKKQRKNKKR TLKQVCIQSV YISKIISSDR DLLAVVFYGT EKDKNSVNFK NIYVLQELDN 
    PGAKRILELD QFKGQQGQKR FQDMMGHGSD YSLSEVLWVC ANLFSDVQFK MSHKRIMLFT 
    NEDNPHGNDS AKASRARTKA GDLRDTGIFL DLMHLKKPGG FDISLFYRDI ISIAEDEDLR 
    VHFEESSKLE DLLRKVRAKE TRKRALSRLK LKLNKDIVIS VGIYNLVQKA LKPPPIKLYR 
    ETNEPVKTKT RTFNTSTGGL LLPSDTKRSQ IYGSRQIILE KEETEELKRF DDPGLMLMGF 
    KPLVLLKKHH YLRPSLFVYP EESLVIGSST LFSALLIKCL EKEVAALCRY TPRRNIPPYF 
    VALVPQEEEL DDQKIQVTPP GFQLVFLPFA DDKRKMPFTE KIMATPEQVG KMKAIVEKLR 
    FTYRSDSFEN PVLQQHFRNL EALALDLMEP EQAVDLTLPK VEAMNKRLGS LVDEFKELVY 
    PPDYNPEGKV TKRKHDNEGS GSKRPKVEYS EEELKTHISK GTLGKFTVPM LKEACRAYGL 
    KSGLKKQELL EALTKHFQD

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.