Details for: XPA

Gene ID: 7507

Symbol: XPA

Ensembl ID: ENSG00000136936

Description: XPA, DNA damage recognition and repair factor

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: 265.5819
    Cell Significance Index: -41.3100
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 140.3151
    Cell Significance Index: -35.5900
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 89.1188
    Cell Significance Index: -42.0800
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 82.7062
    Cell Significance Index: -33.6000
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 76.4408
    Cell Significance Index: -39.3200
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 62.9264
    Cell Significance Index: -42.2300
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 35.3498
    Cell Significance Index: -33.7500
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 34.0726
    Cell Significance Index: -42.0100
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 12.4195
    Cell Significance Index: -33.2700
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 10.6930
    Cell Significance Index: -42.2000
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 9.4483
    Cell Significance Index: -29.0200
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 7.6122
    Cell Significance Index: -16.6600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.6415
    Cell Significance Index: 1482.1800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.2860
    Cell Significance Index: 139.8800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.2315
    Cell Significance Index: 247.0400
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 0.9367
    Cell Significance Index: 7.2200
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.7858
    Cell Significance Index: 100.7400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.7853
    Cell Significance Index: 96.5600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.7584
    Cell Significance Index: 272.0300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.7509
    Cell Significance Index: 135.3700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.7245
    Cell Significance Index: 44.5300
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.6926
    Cell Significance Index: 137.4400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.6573
    Cell Significance Index: 90.2600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.5486
    Cell Significance Index: 242.5600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.5207
    Cell Significance Index: 27.3400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.4824
    Cell Significance Index: 47.7200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.4555
    Cell Significance Index: 28.7100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.4522
    Cell Significance Index: 31.9800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.4487
    Cell Significance Index: 245.0400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.4300
    Cell Significance Index: 20.0500
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.3971
    Cell Significance Index: 7.7500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.3903
    Cell Significance Index: 29.9500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.3561
    Cell Significance Index: 16.1400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.3393
    Cell Significance Index: 7.3500
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.3020
    Cell Significance Index: 3.6000
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.2716
    Cell Significance Index: 187.8300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.2171
    Cell Significance Index: 6.2600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.1922
    Cell Significance Index: 8.5000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.1752
    Cell Significance Index: 9.8300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.1743
    Cell Significance Index: 20.5600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.1579
    Cell Significance Index: 5.9800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.1541
    Cell Significance Index: 8.0100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1040
    Cell Significance Index: 19.7900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0983
    Cell Significance Index: 16.7800
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.0938
    Cell Significance Index: 2.2500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0884
    Cell Significance Index: 64.8400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0851
    Cell Significance Index: 131.0800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.0677
    Cell Significance Index: 1.7400
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.0637
    Cell Significance Index: 0.7900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0513
    Cell Significance Index: 69.7800
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0461
    Cell Significance Index: 0.7900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0456
    Cell Significance Index: 85.9000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0434
    Cell Significance Index: 79.9700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0380
    Cell Significance Index: 24.1200
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0376
    Cell Significance Index: 1.3200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0111
    Cell Significance Index: 5.0500
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0155
    Cell Significance Index: -0.5400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0197
    Cell Significance Index: -14.5600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0285
    Cell Significance Index: -17.7700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0327
    Cell Significance Index: -24.7600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0338
    Cell Significance Index: -0.7200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0480
    Cell Significance Index: -27.0600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0490
    Cell Significance Index: -5.0100
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0495
    Cell Significance Index: -6.4000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0573
    Cell Significance Index: -1.5600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0620
    Cell Significance Index: -4.1700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0899
    Cell Significance Index: -1.5100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0962
    Cell Significance Index: -4.5200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1016
    Cell Significance Index: -21.4000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1041
    Cell Significance Index: -2.9100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1167
    Cell Significance Index: -33.5700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1197
    Cell Significance Index: -13.7100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1214
    Cell Significance Index: -14.1500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1297
    Cell Significance Index: -18.8600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1327
    Cell Significance Index: -9.8900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1750
    Cell Significance Index: -11.2900
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1820
    Cell Significance Index: -9.4800
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.2005
    Cell Significance Index: -4.1600
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.2133
    Cell Significance Index: -5.6100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2155
    Cell Significance Index: -17.0700
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.3234
    Cell Significance Index: -6.7700
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.3269
    Cell Significance Index: -10.4700
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.3443
    Cell Significance Index: -9.2100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3619
    Cell Significance Index: -37.6800
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.3705
    Cell Significance Index: -42.2900
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.3952
    Cell Significance Index: -9.1300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.4239
    Cell Significance Index: -11.3200
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.4654
    Cell Significance Index: -11.8900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.4727
    Cell Significance Index: -6.4500
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.4769
    Cell Significance Index: -7.0400
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.5657
    Cell Significance Index: -28.5900
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.5728
    Cell Significance Index: -35.1200
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.6074
    Cell Significance Index: -17.8400
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.6217
    Cell Significance Index: -5.0700
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.6554
    Cell Significance Index: -13.9100
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.6757
    Cell Significance Index: -7.0000
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.7300
    Cell Significance Index: -23.2500
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.7615
    Cell Significance Index: -24.9300
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.7883
    Cell Significance Index: -17.2600
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.8135
    Cell Significance Index: -23.3200

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** XPA is a DNA damage recognition and repair factor that plays a critical role in the NER pathway. The XPA protein is a hexameric complex that binds to damaged DNA, facilitating the recruitment of other repair proteins. The gene is primarily expressed in cells with high proliferative rates, such as germ cells, lens epithelial cells, and neurons. Notably, XPA is also expressed in cells that are sensitive to UV radiation, highlighting its importance in protecting cells from DNA damage caused by UV light. **Pathways and Functions** XPA is involved in several DNA repair pathways, including: 1. **Nucleotide-excision repair (NER)**: XPA recognizes and binds to damaged DNA, marking it for repair. This pathway is essential for removing bulky DNA lesions, such as those caused by UV radiation. 2. **Global genome nucleotide excision repair (GG-NER)**: XPA participates in this pathway, which is responsible for repairing DNA damage throughout the genome. 3. **Transcription-coupled nucleotide excision repair (TC-NER)**: XPA is also involved in this pathway, which prioritizes the repair of DNA damage near actively transcribing regions of the genome. **Functions** The functions of XPA can be summarized as follows: 1. **DNA damage recognition**: XPA recognizes and binds to damaged DNA, marking it for repair. 2. **Recruitment of repair proteins**: XPA facilitates the recruitment of other repair proteins, such as XPF and ERCC1, to the damaged DNA site. 3. **Incision complex formation**: XPA forms an incision complex with other repair proteins, which is necessary for the removal of damaged DNA. **Clinical Significance** Mutations in the XPA gene have been associated with an increased risk of: 1. **Skin cancers**: XPA mutations have been linked to an increased risk of skin cancers, particularly in individuals with a history of sun exposure. 2. **Xeroderma pigmentosum**: XPA mutations are a hallmark of xeroderma pigmentosum, a rare genetic disorder characterized by increased sensitivity to UV radiation. 3. **Neurological disorders**: XPA mutations have also been associated with neurological disorders, such as Alzheimer's disease and Parkinson's disease. In conclusion, the XPA gene plays a critical role in DNA damage recognition and repair, and its dysfunction can have significant clinical implications. As an expert immunologist, it is essential to understand the role of XPA in maintaining genome stability and its implications for human health.

Genular Protein ID: 2791788058

Symbol: XPA_HUMAN

Name: DNA repair protein complementing XP-A cells

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 2234061

Title: Analysis of a human DNA excision repair gene involved in group A Xeroderma pigmentosum and containing a zinc-finger domain.

PubMed ID: 2234061

DOI: 10.1038/348073a0

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

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: 8294029

Title: Genomic characterization of the human DNA excision repair-controlling gene XPAC.

PubMed ID: 8294029

DOI: 10.1016/0378-1119(93)90493-m

PubMed ID: 7700386

Title: RPA involvement in the damage-recognition and incision steps of nucleotide excision repair.

PubMed ID: 7700386

DOI: 10.1038/374566a0

PubMed ID: 8543191

Title: Characterization of the human XPA promoter.

PubMed ID: 8543191

DOI: 10.1016/0378-1119(95)00649-4

PubMed ID: 1918083

Title: Identification and characterization of xpac protein, the gene product of the human XPAC (Xeroderma pigmentosum group A complementing) gene.

PubMed ID: 1918083

DOI: 10.1016/s0021-9258(18)55060-2

PubMed ID: 1601884

Title: Mutational analysis of the structure and function of the Xeroderma pigmentosum group A complementing protein. Identification of essential domains for nuclear localization and DNA excision repair.

PubMed ID: 1601884

DOI: 10.1016/s0021-9258(19)49821-9

PubMed ID: 8504220

Title: Molecular analysis of Xeroderma pigmentosum group A gene.

PubMed ID: 8504220

DOI: 10.1007/bf01891230

PubMed ID: 10447254

Title: A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.

PubMed ID: 10447254

DOI: 10.1002/(sici)1098-1004(1999)14:1<9::aid-humu2>3.0.co;2-6

PubMed ID: 16540648

Title: Phosphorylation of nucleotide excision repair factor xeroderma pigmentosum group A by ataxia telangiectasia mutated and Rad3-related-dependent checkpoint pathway promotes cell survival in response to UV irradiation.

PubMed ID: 16540648

DOI: 10.1158/0008-5472.can-05-3403

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: 19197159

Title: UV-dependent interaction between Cep164 and XPA mediates localization of Cep164 at sites of DNA damage and UV sensitivity.

PubMed ID: 19197159

DOI: 10.4161/cc.8.4.7844

PubMed ID: 20304803

Title: Circadian control of XPA and excision repair of cisplatin-DNA damage by cryptochrome and HERC2 ubiquitin ligase.

PubMed ID: 20304803

DOI: 10.1073/pnas.0915085107

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 23186163

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

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 25218447

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

PubMed ID: 25218447

DOI: 10.1038/nsmb.2890

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: 9699634

Title: Solution structure of the DNA- and RPA-binding domain of the human repair factor XPA.

PubMed ID: 9699634

DOI: 10.1038/1400

PubMed ID: 10563794

Title: Interactions of human nucleotide excision repair protein XPA with DNA and RPA70 Delta C327: chemical shift mapping and 15N NMR relaxation studies.

PubMed ID: 10563794

DOI: 10.1021/bi991755p

PubMed ID: 31253769

Title: Structural basis of TFIIH activation for nucleotide excision repair.

PubMed ID: 31253769

DOI: 10.1038/s41467-019-10745-5

PubMed ID: 1339397

Title: Molecular basis of group A Xeroderma pigmentosum: a missense mutation and two deletions located in a zinc finger consensus sequence of the XPAC gene.

PubMed ID: 1339397

DOI: 10.1007/bf02265282

PubMed ID: 1372103

Title: Identification of splicing mutations of the last nucleotides of exons, a nonsense mutation, and a missense mutation of the XPAC gene as causes of group A Xeroderma pigmentosum.

PubMed ID: 1372103

DOI: 10.1016/0921-8777(92)90081-d

PubMed ID: 9671271

Title: Distribution of mutations in the human Xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein.

PubMed ID: 9671271

DOI: 10.1002/(sici)1098-1004(1998)12:2<103::aid-humu5>3.0.co;2-6

Sequence Information:

  • Length: 273
  • Mass: 31368
  • Checksum: F89F735219A8494B
  • Sequence:
  • MAAADGALPE AAALEQPAEL PASVRASIER KRQRALMLRQ ARLAARPYSA TAAAATGGMA 
    NVKAAPKIID TGGGFILEEE EEEEQKIGKV VHQPGPVMEF DYVICEECGK EFMDSYLMNH 
    FDLPTCDNCR DADDKHKLIT KTEAKQEYLL KDCDLEKREP PLKFIVKKNP HHSQWGDMKL 
    YLKLQIVKRS LEVWGSQEAL EEAKEVRQEN REKMKQKKFD KKVKELRRAV RSSVWKRETI 
    VHQHEYGPEE NLEDDMYRKT CTMCGHELTY EKM

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.