Details for: ERCC8

Gene ID: 1161

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: ERCC8

Ensembl ID: ENSG00000049167

Description: ERCC excision repair 8, CSA ubiquitin ligase complex subunit

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • melanocyte CL0000148
    CSI 3.66
    rCSI 2.71%
    PRS 81.55
  • ependymal cell CL0000065
    CSI 3.62
    rCSI 7.34%
    PRS 67.06
  • cardiac endothelial cell CL0010008
    CSI 3.56
    rCSI 14.35%
    PRS 86.85
  • choroid plexus epithelial cell CL0000706
    CSI 3.46
    rCSI 5.67%
    PRS 77.83
  • rod bipolar cell CL0000751
    CSI 3.39
    rCSI 6.09%
    PRS 80.82
  • vascular leptomeningeal cell CL4023051
    CSI 3.36
    rCSI 5.89%
    PRS 81.76
  • H2 horizontal cell CL0004218
    CSI 3.36
    rCSI 16.69%
    PRS 80.81
  • pvalb GABAergic cortical interneuron CL4023018
    CSI 3.34
    rCSI 4.16%
    PRS 68.84
  • retinal cone cell CL0000573
    CSI 3.32
    rCSI 5.35%
    PRS 77.81
  • blood vessel endothelial cell CL0000071
    CSI 3.31
    rCSI 6.88%
    PRS 83.98
  • L5 extratelencephalic projecting glutamatergic cortical neuron CL4023041
    CSI 3.27
    rCSI 11.76%
    PRS 68.98
  • differentiation-committed oligodendrocyte precursor CL4023059
    CSI 3.26
    rCSI 5.91%
    PRS 78.94
  • glioblast CL0000030
    CSI 3.21
    rCSI 5.11%
    PRS 78.51
  • neural crest cell CL0011012
    CSI 3.2
    rCSI 2.53%
    PRS 77.56
  • Kupffer cell CL0000091
    CSI 3.17
    rCSI 7.25%
    PRS 87.45
  • caudal ganglionic eminence derived cortical interneuron CL4023064
    CSI 3.06
    rCSI 5.4%
    PRS 70.53
  • kidney connecting tubule epithelial cell CL1000768
    CSI 2.99
    rCSI 7.58%
    PRS 78.63
  • interneuron CL0000099
    CSI 2.93
    rCSI 5.89%
    PRS 78.88
  • glial cell CL0000125
    CSI 2.82
    rCSI 10.73%
    PRS 78.74
  • radial glial cell CL0000681
    CSI 2.77
    rCSI 3.84%
    PRS 84.81
  • mesodermal cell CL0000222
    CSI 2.64
    rCSI 3.17%
    PRS 84.71
  • cerebral cortex endothelial cell CL1001602
    CSI 2.57
    rCSI 4.44%
    PRS 79.74
  • stem cell CL0000034
    CSI 2.56
    rCSI 2.47%
    PRS 81.4
  • Mueller cell CL0000636
    CSI 2.5
    rCSI 5.71%
    PRS 79.07
  • astrocyte of the cerebral cortex CL0002605
    CSI 2.48
    rCSI 5.57%
    PRS 71.84
  • VIP GABAergic cortical interneuron CL4023016
    CSI 2.48
    rCSI 2.96%
    PRS 71.17
  • intermediate monocyte CL0002393
    CSI 2.46
    rCSI 3.72%
    PRS 90.91
  • retinal bipolar neuron CL0000748
    CSI 2.33
    rCSI 4.36%
    PRS 76.64
  • neuroblast (sensu Nematoda and Protostomia) CL0000338
    CSI 2.31
    rCSI 2.66%
    PRS 78.99
  • hepatic stellate cell CL0000632
    CSI 2.19
    rCSI 8.19%
    PRS 80.51
  • adipocyte CL0000136
    CSI 2.14
    rCSI 2.74%
    PRS 77.33
  • common myeloid progenitor CL0000049
    CSI 2.09
    rCSI 1.69%
    PRS 88.19
  • cardiac muscle cell CL0000746
    CSI 2.05
    rCSI 2.94%
    PRS 77.6
  • chandelier pvalb GABAergic cortical interneuron CL4023036
    CSI 2.02
    rCSI 6.33%
    PRS 74.59
  • retinal pigment epithelial cell CL0002586
    CSI 1.99
    rCSI 3.95%
    PRS 82.62
  • sst GABAergic cortical interneuron CL4023017
    CSI 1.97
    rCSI 2.55%
    PRS 72.19
  • inhibitory interneuron CL0000498
    CSI 1.96
    rCSI 4.53%
    PRS 75.97
  • cerebellar granule cell CL0001031
    CSI 1.92
    rCSI 2.83%
    PRS 80.33
  • lamp5 GABAergic cortical interneuron CL4023011
    CSI 1.91
    rCSI 3.2%
    PRS 71.04
  • chondrocyte CL0000138
    CSI 1.9
    rCSI 3.02%
    PRS 80.76
  • dopaminergic neuron CL0000700
    CSI 1.85
    rCSI 10.48%
    PRS 74.15
  • renal beta-intercalated cell CL0002201
    CSI 1.85
    rCSI 4.41%
    PRS 86.41
  • neuroblast (sensu Vertebrata) CL0000031
    CSI 1.84
    rCSI 2.36%
    PRS 82.84
  • lung secretory cell CL1000272
    CSI 1.82
    rCSI 4.51%
    PRS 86.94
  • myeloid dendritic cell CL0000782
    CSI 1.77
    rCSI 2.56%
    PRS 95.36
  • cardiac neuron CL0010022
    CSI 1.72
    rCSI 5.49%
    PRS 84.48
  • L2/3-6 intratelencephalic projecting glutamatergic neuron CL4023040
    CSI 1.71
    rCSI 4.16%
    PRS 68.82
  • type B pancreatic cell CL0000169
    CSI 1.67
    rCSI 3.7%
    PRS 86.37
  • kidney loop of Henle thin ascending limb epithelial cell CL1001107
    CSI 1.65
    rCSI 4.26%
    PRS 82.85
  • direct pathway medium spiny neuron CL4023026
    CSI 1.6
    rCSI 38.36%
    PRS 68.74
  • retinal ganglion cell CL0000740
    CSI 1.57
    rCSI 3.47%
    PRS 74.14
  • Bergmann glial cell CL0000644
    CSI 1.55
    rCSI 2.12%
    PRS 78.26
  • indirect pathway medium spiny neuron CL4023029
    CSI 1.55
    rCSI 37.32%
    PRS 69.17
  • glutamatergic neuron CL0000679
    CSI 1.52
    rCSI 3.13%
    PRS 73.9
  • renal interstitial pericyte CL1001318
    CSI 1.47
    rCSI 4.05%
    PRS 82.66
  • sncg GABAergic cortical interneuron CL4023015
    CSI 1.41
    rCSI 2.26%
    PRS 72.36
  • parietal epithelial cell CL1000452
    CSI 1.4
    rCSI 3.73%
    PRS 79.62
  • regular atrial cardiac myocyte CL0002129
    CSI 1.31
    rCSI 4.2%
    PRS 83.27
  • corticothalamic-projecting glutamatergic cortical neuron CL4023013
    CSI 1.25
    rCSI 7.38%
    PRS 71.47
  • GABAergic neuron CL0000617
    CSI 1.18
    rCSI 3.96%
    PRS 71.52
  • neural progenitor cell CL0011020
    CSI 1.03
    rCSI 4.52%
    PRS 75.08
  • L6b glutamatergic cortical neuron CL4023038
    CSI 1.02
    rCSI 3.19%
    PRS 72.43
  • amacrine cell CL0000561
    CSI 1.02
    rCSI 2.94%
    PRS 77.1
  • near-projecting glutamatergic cortical neuron CL4023012
    CSI 0.97
    rCSI 3.67%
    PRS 71.36
  • blood vessel smooth muscle cell CL0019018
    CSI 0.92
    rCSI 7.5%
    PRS 82.24
  • diffuse bipolar 3a cell CL4033029
    CSI 0.82
    rCSI 5.57%
    PRS 78.55
  • central nervous system neuron CL2000029
    CSI 0.68
    rCSI 4.98%
    PRS 75.91
  • regular ventricular cardiac myocyte CL0002131
    CSI 0.59
    rCSI 3.67%
    PRS 79.4
  • ON parasol ganglion cell CL4033052
    CSI 0.4
    rCSI 5.66%
    PRS 78.28
  • medium spiny neuron CL1001474
    CSI 0.36
    rCSI 3.06%
    PRS 76.47

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.
Network Configuration

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

Comma-separated if multiple.
Comma-separated if multiple.
Legend:
  • Query Gene
  • Node Color (Target Cell CSI, relative to current network):
    • Very High
    • High
    • Medium
    • Low
    • Very Low
    • CSI N/A
  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • Shared Pathway Edge (ONTOLOGY)

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Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [ERCC8](/details-gene/1161) (Excision Repair Cross-Complementation Group 8) encodes the Cockayne syndrome A (CSA) protein, a key component of the transcription-coupled nucleotide excision repair (TC-NER) pathway. As a subunit of a Cullin-RING E3 ubiquitin ligase complex, it is essential for recognizing and resolving DNA lesions that block transcription by RNA polymerase II, thereby maintaining genomic integrity. Mutations in this gene are the primary cause of Cockayne syndrome type A, a rare and severe autosomal recessive disorder characterized by developmental defects, neurodegeneration, and premature aging ([OMIM: 216400](https://omim.org/entry/216400)). **Overall**, expression data indicate that [ERCC8](/details-gene/1161) is significantly active across a wide range of cell types, with particularly high significance in neural lineages such as [ependymal cells](/details-cell/CL0000065), various neurons, and retinal cells, as well as in [melanocytes](/details-cell/CL0000148) and endothelial cells, suggesting a fundamental role in protecting long-lived, metabolically active cells from DNA damage. ## Cellular Roles and Expression Landscape The expression profile of [ERCC8](/details-gene/1161) highlights its essential housekeeping function in DNA repair across diverse tissues. The gene shows high significance in cell types that are either long-lived, exposed to high levels of genotoxic stress, or possess high transcriptional activity. A prominent feature is its high significance score in various components of the central nervous system and the eye. This includes high CSI values in [melanocytes](/details-cell/CL0000148) (CSI: 3.66), which are exposed to UV radiation, and a variety of neural cells such as [ependymal cells](/details-cell/CL0000065) (CSI: 3.62), [choroid plexus epithelial cells](/details-cell/CL0000706) (CSI: 3.46), [rod bipolar cells](/details-cell/CL0000751) (CSI: 3.39), and [retinal cone cells](/details-cell/CL0000573) (CSI: 3.32). Its importance is further underscored in specific neuronal subtypes like [pvalb GABAergic cortical interneurons](/details-cell/CL4023018) (CSI: 3.34) and [L5 extratelencephalic projecting glutamatergic cortical neurons](/details-cell/CL4023041) (CSI: 3.27). This broad expression pattern in the nervous system is consistent with the severe neurological deficits observed in Cockayne syndrome, suggesting [ERCC8](/details-gene/1161) is critical for maintaining neuronal health and preventing the accumulation of DNA damage from high metabolic activity. Furthermore, [ERCC8](/details-gene/1161) shows significant expression in the vasculature, including in [cardiac endothelial cells](/details-cell/CL0010008) (CSI: 3.56) and [blood vessel endothelial cells](/details-cell/CL0000071) (CSI: 3.31). This suggests a vital role in protecting the endothelial lining from endogenous and exogenous DNA damaging agents, which is crucial for maintaining vascular integrity. ## Pathways and Molecular Function Functionally, [ERCC8](/details-gene/1161) is deeply integrated into the cellular machinery for DNA repair and protein degradation. Its protein product, CSA, is a WD repeat-containing protein that operates within the [Cul4-ring e3 ubiquitin ligase complex](https://www.ebi.ac.uk/QuickGO/term/GO:0080008), where it functions as a substrate recognition module. This complex is central to the [Dna damage response](https://www.ebi.ac.uk/QuickGO/term/GO:0006974), particularly in response to UV-induced lesions ([GO:0009411](https://www.ebi.ac.uk/QuickGO/term/GO:0009411)). The primary role of the CSA complex is in [Transcription-coupled nucleotide excision repair (tc-ner)](https://reactome.org/content/detail/R-HSA-6781827) ([GO:0006283](https://www.ebi.ac.uk/QuickGO/term/GO:0006283)). When RNA polymerase II stalls at a DNA lesion on the transcribed strand, the CSA complex is recruited. It then uses its [Ubiquitin-protein transferase activity](https://www.ebi.ac.uk/QuickGO/term/GO:0004842) to ubiquitinate target proteins, including the Cockayne syndrome B (CSB) protein, initiating a signaling cascade that leads to the recruitment of other NER factors for DNA incision and repair ([Link](https://doi.org/10.1101/gad.378206)). This process ensures that actively transcribed genes are prioritized for repair, preventing persistent transcriptional arrest and cell death. Research confirms that the ubiquitin ligase activity is critical and regulated in response to DNA damage ([Link](https://doi.org/10.1016/s0092-8674(03)00316-7)). The gene is also implicated more broadly in the [Response to oxidative stress](https://www.ebi.ac.uk/QuickGO/term/GO:0006979) and other forms of DNA damage like double-strand breaks ([GO:0097680](https://www.ebi.ac.uk/QuickGO/term/GO:0097680)), indicating a versatile role in maintaining genome stability ([Link](https://doi.org/10.18632/oncotarget.24342); [Link](https://doi.org/10.1073/pnas.0902113106)). ## Research Directions The widespread and significant expression of [ERCC8](/details-gene/1161), especially in post-mitotic cells of the nervous and vascular systems, opens several avenues for future research into aging and neurodegenerative diseases beyond its established role in Cockayne syndrome. ### Proposed Hypotheses 1. **Hypothesis 1:** The high significance of [ERCC8](/details-gene/1161) in diverse neuronal populations suggests that subtle, age-related declines in its expression or efficiency could be a contributing factor to the accumulation of DNA damage observed in common neurodegenerative disorders, such as Alzheimer's or Parkinson's disease. This accumulation may lead to transcriptional stress and progressive neuronal dysfunction. 2. **Hypothesis 2:** Given its high expression in endothelial cells, dysfunction of the [ERCC8](/details-gene/1161)-mediated TC-NER pathway may accelerate endothelial senescence in response to chronic genotoxic insults (e.g., oxidative stress from hypertension or hyperlipidemia), thereby contributing to the pathogenesis of atherosclerosis and other age-related cardiovascular diseases. ### Key Experiment To test the hypothesis regarding neurodegeneration (Hypothesis 1), a powerful experimental approach would be to use induced pluripotent stem cell (iPSC)-derived cortical neurons from Cockayne syndrome A patients and isogenic, CRISPR-Cas9 corrected controls. These neuronal cultures could be subjected to chronic, low-dose oxidative stress to mimic age-related damage. The key readouts would include: * RNA sequencing to quantify transcriptional stress and identify dysregulated pathways. * Immunofluorescence staining for DNA damage markers (e.g., γH2AX, 8-oxoguanine) to assess the rate of damage accumulation. * Electrophysiological analysis (e.g., multi-electrode array) to measure synaptic activity and network function over time. A finding that [ERCC8](/details-gene/1161)-deficient neurons accumulate more damage and exhibit functional decline faster than corrected controls would provide direct evidence for its role in protecting against age-related neurodegeneration. ### Therapeutic Potential As Cockayne syndrome is a monogenic, loss-of-function disorder, the primary therapeutic strategy would involve **activation** or gene replacement rather than inhibition. The widespread expression of [ERCC8](/details-gene/1161) and the systemic nature of the disease present significant challenges for treatment. However, its crucial role makes it a candidate for gene therapy approaches. AAV-mediated delivery of a functional [ERCC8](/details-gene/1161) coding sequence could potentially rescue cellular function. The key challenges would be achieving sufficient biodistribution, particularly across the blood-brain barrier, and ensuring long-term, regulated expression without triggering adverse immune responses. Such a strategy remains highly experimental but represents the most direct approach to correcting the underlying genetic defect.

Genular Protein ID: 2852058752

Symbol: ERCC8_HUMAN

Name: DNA excision repair protein ERCC-8

UniProtKB Accession Codes:

Q13216 B2RB64 Q6FHX5 Q96GB9

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CORUM 1 CTD 1 ChiTaRS 1 ComplexPortal 2 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 7 EMDB 8 Ensembl 3 EvolutionaryTrace 1 ExpressionAtlas 1 GO 20 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PDB 10 PDBsum 10 PIR 1 PRINTS 1 PRO 1 PROSITE 3 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 5 RefSeq 2 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7664335

Title: The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH.

PubMed ID: 7664335

DOI: 10.1016/0092-8674(95)90028-4

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: 12732143

Title: The ubiquitin ligase activity in the DDB2 and CSA complexes is differentially regulated by the COP9 signalosome in response to DNA damage.

PubMed ID: 12732143

DOI: 10.1016/s0092-8674(03)00316-7

PubMed ID: 16751180

Title: CSA-dependent degradation of CSB by the ubiquitin-proteasome pathway establishes a link between complementation factors of the Cockayne syndrome.

PubMed ID: 16751180

DOI: 10.1101/gad.378206

PubMed ID: 16916636

Title: Cockayne syndrome A and B proteins differentially regulate recruitment of chromatin remodeling and repair factors to stalled RNA polymerase II in vivo.

PubMed ID: 16916636

DOI: 10.1016/j.molcel.2006.06.029

PubMed ID: 16964240

Title: Molecular architecture and assembly of the DDB1-CUL4A ubiquitin ligase machinery.

PubMed ID: 16964240

DOI: 10.1038/nature05175

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: 22466612

Title: Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair.

PubMed ID: 22466612

DOI: 10.1038/ng.2228

PubMed ID: 26620705

Title: The C-terminal Region and SUMOylation of Cockayne Syndrome Group B Protein Play Critical Roles in Transcription-coupled Nucleotide Excision Repair.

PubMed ID: 26620705

DOI: 10.1074/jbc.m115.683235

PubMed ID: 29545921

Title: CSA and CSB play a role in the response to DNA breaks.

PubMed ID: 29545921

DOI: 10.18632/oncotarget.24342

PubMed ID: 22118460

Title: The molecular basis of CRL4DDB2/CSA ubiquitin ligase architecture, targeting, and activation.

PubMed ID: 22118460

DOI: 10.1016/j.cell.2011.10.035

PubMed ID: 14661080

Title: CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism.

PubMed ID: 14661080

DOI: 10.1007/s10038-003-0107-2

PubMed ID: 15744458

Title: Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects.

PubMed ID: 15744458

DOI: 10.1007/s10038-004-0228-2

PubMed ID: 19329487

Title: A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage.

PubMed ID: 19329487

DOI: 10.1073/pnas.0902113106

PubMed ID: 19894250

Title: Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

PubMed ID: 19894250

DOI: 10.1002/humu.21154

Sequence Information:

  • Length: 396
  • Mass: 44055
  • Checksum: EC962D56226D717B
  • Sequence:
    • MLGFLSARQT GLEDPLRLRR AESTRRVLGL ELNKDRDVER IHGGGINTLD IEPVEGRYML 
SGGSDGVIVL YDLENSSRQS YYTCKAVCSI GRDHPDVHRY SVETVQWYPH DTGMFTSSSF 
DKTLKVWDTN TLQTADVFNF EETVYSHHMS PVSTKHCLVA VGTRGPKVQL CDLKSGSCSH 
ILQGHRQEIL AVSWSPRYDY ILATASADSR VKLWDVRRAS GCLITLDQHN GKKSQAVESA 
NTAHNGKVNG LCFTSDGLHL LTVGTDNRMR LWNSSNGENT LVNYGKVCNN SKKGLKFTVS 
CGCSSEFVFV PYGSTIAVYT VYSGEQITML KGHYKTVDCC VFQSNFQELY SGSRDCNILA 
WVPSLYEPVP DDDETTTKSQ LNPAFEDAWS SSDEEG

Genular Protein ID: 1336775171

Symbol: B4DGZ9_HUMAN

Name: N/A

UniProtKB Accession Codes:

B4DGZ9

Database IDs:

ARBA 2 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 GO 5 Gene3D 1 InterPro 5 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 3 PROSITE-ProRule 1 PeptideAtlas 1 Pfam 1 ProteomicsDB 1 RefSeq 1 SAM 1 SMART 1 SMR 1 SUPFAM 1

Sequence Information:

  • Length: 243
  • Mass: 26814
  • Checksum: E1912E405AC00B04
  • Sequence:
    • MGYKYITIGT RGPKVQLCDL KSGSCSHILQ GHRQEILAVS WSPRYDYILA TASADSRVKL 
WDVRRASGCL ITLDQHNGKK SQAVESANTA HNGKVNGLCF TSDGLHLLTV GTDNRMRLWN 
SSNGENTLVN YGKVCNNSKK GLKFTVSCGC SSEFVFVPYG STIAVYTVYS GEQITMLKGH 
YKTVDCCVFQ SNFQELYSGS RDCNILAWVP SLYEPVPDDD ETTTKSQLNP AFEDAWSSSD 
EEG

Genular Protein ID: 2617974291

Symbol: B3KPW7_HUMAN

Name: N/A

UniProtKB Accession Codes:

B3KPW7

Database IDs:

ARBA 2 BioGRID-ORCS 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 4 Ensembl 2 GO 1 Gene3D 1 GeneTree 1 HGNC 1 InterPro 6 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 1 PROSITE 3 PROSITE-ProRule 1 PeptideAtlas 1 Pfam 1 Proteomes 2 ProteomicsDB 2 RefSeq 2 SAM 1 SMART 1 SUPFAM 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15372022

Title: The DNA sequence and comparative analysis of human chromosome 5.

PubMed ID: 15372022

DOI: 10.1038/nature02919

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

Sequence Information:

  • Length: 338
  • Mass: 37483
  • Checksum: A5EBA5A61EEB0430
  • Sequence:
    • MLSGGSDGVI VLYDLENSSR QSYYTCKAVC SIGRDHPDVH RYSVETVQWY PHDTGMFTSS 
SFDKTLKVWD TNTLQTADVF NFEETVYSHH MSPVSTKHCL VAVGTRGPKV QLCDLKSGSC 
SHILQGHRQE ILAVSWSPRY DYILATASAD SRVKLWDVRR ASGCLITLDQ HNGKKSQAVE 
SANTAHNGKV NGLCFTSDGL HLLTVGTDNR MRLWNSSNGE NTLVNYGKVC NNSKKGLKFT 
VSCGCSSEFV FVPYGSTIAV YTVYSGEQIT MLKGHYKTVD CCVFQSNFQE LYSGSRDCNI 
LAWVPSLYEP VPDDDETTTK SQLNPAFEDA WSSSDEEG

Genular Protein ID: 3296823351

Symbol: A0A0S2Z3L1_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A0S2Z3L1

Database IDs:

ARBA 2 AlphaFoldDB 1 Antibodypedia 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 4 ExpressionAtlas 1 GO 5 Gene3D 1 InterPro 4 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 2 PROSITE-ProRule 1 Pfam 1 RefSeq 1 SMART 1 SMR 1 SUPFAM 1 VEuPathDB 1

Citations:

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

PubMed ID: 26871637

Title: Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.

PubMed ID: 26871637

DOI: 10.1016/j.cell.2016.01.029

Sequence Information:

  • Length: 205
  • Mass: 23182
  • Checksum: 6553CE607A392576
  • Sequence:
    • MLGFLSARQT GLEDPLRLRR AESTRRVLGL ELNKDRDVER IHGGGINTLD IEPVEGRYML 
SGGSDGVIVL YDLENSSRQS YYTCKAVCSI GRDHPDVHRY SVETVQWYPH DTGMFTSSSF 
DKTLKVWDTN TLQTADVFNF EETVYSHHMS PVSTKHCLVA VGTRGPKVQL CDLKSGSCSH 
ILQGIFILFQ TATTLSKRFN KKKRY