Details for: MUTYH

Gene ID: 4595

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: MUTYH

Ensembl ID: ENSG00000132781

Description: mutY DNA glycosylase

Cell Significance Landscape

Associated with

Significant Cells

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

  • effector CD8-positive, alpha-beta T cell CL0001050
    CSI 4.41
    rCSI 3.35%
    PRS 99.45
  • ON-bipolar cell CL0000749
    CSI 3.5
    rCSI 5.2%
    PRS 96.31
  • plasmacytoid dendritic cell, human CL0001058
    CSI 3.3
    rCSI 2.3%
    PRS 98.69
  • hematopoietic stem cell CL0000037
    CSI 3.13
    rCSI 2.08%
    PRS 98.25
  • megakaryocyte-erythroid progenitor cell CL0000050
    CSI 2.94
    rCSI 2.66%
    PRS 97.41
  • pvalb GABAergic cortical interneuron CL4023018
    CSI 2.9
    rCSI 3.61%
    PRS 91.23
  • VIP GABAergic cortical interneuron CL4023016
    CSI 2.49
    rCSI 2.97%
    PRS 92.61
  • retinal bipolar neuron CL0000748
    CSI 2.21
    rCSI 4.14%
    PRS 93.64
  • radial glial cell CL0000681
    CSI 2.21
    rCSI 3.07%
    PRS 97.24
  • intestinal tuft cell CL0019032
    CSI 2.05
    rCSI 3.14%
    PRS 97.31
  • retinal cone cell CL0000573
    CSI 1.97
    rCSI 3.17%
    PRS 93.57
  • placental villous trophoblast CL2000060
    CSI 1.94
    rCSI 3%
    PRS 96.63
  • astrocyte of the cerebral cortex CL0002605
    CSI 1.74
    rCSI 3.89%
    PRS 92.91
  • glial cell CL0000125
    CSI 1.13
    rCSI 4.29%
    PRS 94.23

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)

Loading network (please wait)...

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 Analyzed for its expression specificity (CSI Z-SCORE), [MUTYH](/details-gene/4595) is identified not as a cell-type specific marker, but as a ubiquitously expressed enzyme essential for DNA integrity. Its primary function is as a DNA glycosylase involved in base excision repair, specifically correcting oxidative DNA damage. This housekeeping role explains its broad expression across diverse cell lineages. Germline mutations in [MUTYH](/details-gene/4595) are causally linked to an autosomal recessive form of colorectal cancer known as MUTYH-associated polyposis. ## Cellular Roles and Expression Landscape The expression profile of [MUTYH](/details-gene/4595), when evaluated for cell-type specificity, underscores its role as a fundamental maintenance gene rather than a marker of cellular identity. In the **Overall** context, the CSI (Z-SCORE) is 0.00 with non-significant p-values (p > 0.6) across a wide array of phenotypically distinct cells. This includes immune cells like [effector CD8-positive, alpha-beta T cell](/details-cell/CL0001050), neurons such as [retinal bipolar neuron](/details-cell/CL0000748), progenitor cells like the [hematopoietic stem cell](/details-cell/CL0000037), and specialized epithelial cells like the [intestinal tuft cell](/details-cell/CL0019032). This lack of specificity suggests that the function of [MUTYH](/details-gene/4595) is a basal requirement for most, if not all, cell types. As a DNA repair enzyme, its presence is critical for maintaining genomic stability against oxidative stress, a universal cellular challenge. While the gene does not define any single cell type, its percentile rank scores (PRS) are consistently high (typically >90%), indicating that its transcript abundance is in the upper decile relative to all other genes within these cells. This combination of a low specificity score and high relative abundance is characteristic of a 'housekeeping' gene that performs an essential, continuously required function. The initial cloning of its human homolog highlighted its role in repairing oxidative DNA damage ([PubMed: 8682794](https://pubmed.ncbi.nlm.nih.gov/8682794/)), a process vital for any cell with metabolic activity. Further research has confirmed its localization to both the nucleus and mitochondria ([PubMed: 10684930](https://pubmed.ncbi.nlm.nih.gov/10684930/)), the primary site of endogenous oxidative stress, which aligns with its broad expression pattern. ## Pathways and Molecular Function The molecular functions and pathway annotations for [MUTYH](/details-gene/4595) strongly support its observed ubiquitous expression pattern. It is centrally involved in [DNA repair](/ontology/GO:0006281), particularly [Base-excision repair (BER)](/ontology/GO:0006284), a critical pathway for correcting single-base DNA lesions. As a DNA N-glycosylase, its specific function is to recognize and excise adenine mispaired with 8-oxoguanine, a common form of oxidative DNA damage ([PubMed: 8682794](https://pubmed.ncbi.nlm.nih.gov/8682794/)). This activity prevents G:C to T:A transversion mutations during subsequent DNA replication. This role is extensively detailed in the Reactome pathway database, where [MUTYH](/details-gene/4595) is a key component of [Base excision repair](/details-pathway/R-HSA-73884). The pathway [Cleavage of the damaged purine](/details-pathway/R-HSA-110331) describes its core enzymatic step. The clinical significance of this function is highlighted by pathways such as [Defective base excision repair associated with mutyh](/details-pathway/R-HSA-9605310), which connects its malfunction to human disease. Biallelic germline mutations in [MUTYH](/details-gene/4595) lead to an autosomal recessive colorectal adenomatous polyposis ([PubMed: 11818965](https://pubmed.ncbi.nlm.nih.gov/11818965/), [PubMed: 12853198](https://pubmed.ncbi.nlm.nih.gov/12853198/)), a condition characterized by a high risk of colorectal cancer, classified as MUTYH-associated polyposis ([153245](https://omim.org/entry/153245)). This pathological outcome underscores the indispensable role of [MUTYH](/details-gene/4595) in maintaining genome integrity across somatic cells. ## Research Directions Given that [MUTYH](/details-gene/4595) functions as a broadly expressed housekeeping gene, future research should focus on understanding the dynamics of its regulation in response to cellular states rather than its role in defining cell identity. Its universal importance in mitigating oxidative DNA damage presents several avenues for investigation. ### Testable Hypotheses: 1. **Hypothesis: `MUTYH` expression is dynamically regulated by the level of intracellular oxidative stress, independent of cell type.** While its baseline expression is ubiquitous, cells under high metabolic or environmental oxidative load may specifically upregulate [MUTYH](/details-gene/4595) as a protective response. * **Experimental Approach:** Utilize single-cell RNA sequencing (scRNA-seq) on tissues, such as intestinal organoids or immune co-cultures, before and after treatment with an oxidative agent (e.g., H2O2, paraquat). This would determine if `MUTYH` transcript levels increase proportionally to stress markers across different cell types within the tissue. 2. **Hypothesis: The mitochondrial isoform of `MUTYH` is particularly critical in cells with high aerobic respiration, such as neurons and cardiomyocytes.** These cells have high rates of mitochondrial metabolism and are significant sources of endogenous reactive oxygen species (ROS). The baseline expression of the mitochondrial `MUTYH` isoform may correlate directly with a cell's reliance on oxidative phosphorylation. * **Experimental Approach:** Combine spatial transcriptomics with mitochondrial functional assays (e.g., Seahorse XF Analyzer) in complex tissues like the brain or heart. This would allow for the correlation of `MUTYH` expression levels with local metabolic activity (Oxygen Consumption Rate) at a spatially resolved level. 3. **Hypothesis: The nuclear `MUTYH` interactome differs between proliferative and post-mitotic cells, reflecting a shift from replication-coupled repair to general genomic maintenance.** In dividing cells, [MUTYH](/details-gene/4595) likely interacts with the replication machinery, whereas in terminally differentiated cells, it may associate more with chromatin remodeling and transcription-coupled repair factors. * **Experimental Approach:** Perform proximity-dependent biotinylation (BioID) or AP-MS (Affinity Purification-Mass Spectrometry) in a proliferative cell line (e.g., colorectal cancer line HCT116) and a terminally differentiated cell model (e.g., iPSC-derived neurons). Comparing the resulting interactomes would reveal context-specific protein partnerships. ### Therapeutic Potential: The ubiquitous expression of [MUTYH](/details-gene/4595) makes it an unsuitable target for direct, cell-type-specific inhibition. However, its role in DNA repair opens therapeutic possibilities based on synthetic lethality. In cancers with biallelic `MUTYH` loss-of-function, tumor cells are deficient in base excision repair and accumulate specific types of DNA damage. These cells may become uniquely dependent on other DNA repair pathways for survival. Therefore, targeting a parallel pathway (e.g., with inhibitors of PARP, APE1, or other glycosylases) could selectively kill `MUTYH`-deficient cancer cells while sparing healthy cells, providing a targeted therapeutic strategy for patients with MUTYH-associated polyposis and related cancers.

Genular Protein ID: 2959507616

Symbol: MUTYH_HUMAN

Name: Adenine DNA glycosylase

UniProtKB Accession Codes:

Q9UIF7 D3DPZ4 Q15830 Q9UBP2 Q9UBS7 Q9UIF4 Q9UIF5 Q9UIF6

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 5 CDD 2 CPTC 1 CTD 1 ChEBI 5 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 53 Ensembl 11 EvolutionaryTrace 1 ExpressionAtlas 1 GO 16 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 11 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 3 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 6 Pumba 1 RNAct 1 Reactome 5 RefSeq 14 SIGNOR 1 SMART 2 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8682794

Title: Cloning and sequencing a human homolog (hMYH) of the Escherichia coli mutY gene whose function is required for the repair of oxidative DNA damage.

PubMed ID: 8682794

DOI: 10.1128/jb.178.13.3885-3892.1996

PubMed ID: 10684930

Title: Identification of human MutY homolog (hMYH) as a repair enzyme for 2-hydroxyadenine in DNA and detection of multiple forms of hMYH located in nuclei and mitochondria.

PubMed ID: 10684930

DOI: 10.1093/nar/28.6.1355

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

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

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: 11818965

Title: Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors.

PubMed ID: 11818965

DOI: 10.1038/ng828

PubMed ID: 12853198

Title: Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH.

PubMed ID: 12853198

DOI: 10.1016/s0140-6736(03)13805-6

PubMed ID: 12606733

Title: Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH.

PubMed ID: 12606733

DOI: 10.1056/nejmoa025283

PubMed ID: 15366000

Title: Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas.

PubMed ID: 15366000

DOI: 10.1002/humu.9282

PubMed ID: 15273732

Title: Genetic alterations of the MYH gene in gastric cancer.

PubMed ID: 15273732

DOI: 10.1038/sj.onc.1207574

PubMed ID: 16134147

Title: Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli.

PubMed ID: 16134147

DOI: 10.1002/humu.9370

PubMed ID: 16941501

Title: Low frequency of AXIN2 mutations and high frequency of MUTYH mutations in patients with multiple polyposis.

PubMed ID: 16941501

DOI: 10.1002/humu.9460

PubMed ID: 16287072

Title: Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients.

PubMed ID: 16287072

DOI: 10.1002/ijc.21470

PubMed ID: 16557584

Title: MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype.

PubMed ID: 16557584

DOI: 10.1002/ijc.21905

PubMed ID: 18091433

Title: Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis.

PubMed ID: 18091433

DOI: 10.1097/gim.0b013e31815bf940

PubMed ID: 18515411

Title: Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3.

PubMed ID: 18515411

DOI: 10.1136/gut.2007.145748

PubMed ID: 20418187

Title: Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis.

PubMed ID: 20418187

DOI: 10.1016/j.dnarep.2010.03.008

PubMed ID: 19953527

Title: MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay.

PubMed ID: 19953527

DOI: 10.1002/humu.21158

PubMed ID: 20848659

Title: Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer.

PubMed ID: 20848659

DOI: 10.1002/humu.21363

PubMed ID: 25820570

Title: Functional complementation assay for 47 MUTYH variants in a MutY-disrupted Escherichia coli strain.

PubMed ID: 25820570

DOI: 10.1002/humu.22794

PubMed ID: 26694661

Title: Functional evaluation of nine missense-type variants of the human DNA glycosylase enzyme MUTYH in the Japanese population.

PubMed ID: 26694661

DOI: 10.1002/humu.22949

Sequence Information:

  • Length: 546
  • Mass: 60069
  • Checksum: 6C79BDB34345DD10
  • Sequence:
    • MTPLVSRLSR LWAIMRKPRA AVGSGHRKQA ASQEGRQKHA KNNSQAKPSA CDGMIAECPG 
APAGLARQPE EVVLQASVSS YHLFRDVAEV TAFRGSLLSW YDQEKRDLPW RRRAEDEMDL 
DRRAYAVWVS EVMLQQTQVA TVINYYTGWM QKWPTLQDLA SASLEEVNQL WAGLGYYSRG 
RRLQEGARKV VEELGGHMPR TAETLQQLLP GVGRYTAGAI ASIAFGQATG VVDGNVARVL 
CRVRAIGADP SSTLVSQQLW GLAQQLVDPA RPGDFNQAAM ELGATVCTPQ RPLCSQCPVE 
SLCRARQRVE QEQLLASGSL SGSPDVEECA PNTGQCHLCL PPSEPWDQTL GVVNFPRKAS 
RKPPREESSA TCVLEQPGAL GAQILLVQRP NSGLLAGLWE FPSVTWEPSE QLQRKALLQE 
LQRWAGPLPA THLRHLGEVV HTFSHIKLTY QVYGLALEGQ TPVTTVPPGA RWLTQEEFHT 
AAVSTAMKKV FRVYQGQQPG TCMGSKRSQV SSPCSRKKPR MGQQVLDNFF RSHISTDAHS 
LNSAAQ

Genular Protein ID: 1682074090

Symbol: E5KP27_HUMAN

Name: N/A

UniProtKB Accession Codes:

E5KP27

Database IDs:

ARBA 12 AlphaFoldDB 1 Antibodypedia 1 BioGRID-ORCS 1 CDD 2 CTD 1 ChEBI 1 DNASU 1 DisGeNET 1 EC 1 EMBL 41 ExpressionAtlas 1 GO 6 Gene3D 2 InterPro 11 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 4 Pfam 3 RefSeq 1 RuleBase 1 SAM 1 SMART 2 SMR 1 SUPFAM 2 VEuPathDB 1

Citations:

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

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

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: 535
  • Mass: 59071
  • Checksum: B035F73FE7E5EC88
  • Sequence:
    • MTPLVSRLSR LWAIMRKPRA AVGSGHRKQA ASQEGRQKHA KNNSQAKPSA CDGLARQPEE 
VVLQASVSSY HLFRDVAEVT AFRGSLLSWY DQEKRDLPWR RRAEDEMDLD RRAYAVWVSE 
VMLQQTQVAT VINYYTGWMQ KWPTLQDLAS ASLEEVNQLW AGLGYYSRGR RLQEGARKVV 
EELGGHMPRT AETLQQLLPG VGRYTAGAIA SIAFGQATGV VDGNVARVLC RVRAIGADPS 
STLVSQQLWG LAQQLVDPAR PGDFNQAAME LGATVCTPQR PLCSQCPVES LCRARQRVEQ 
EQLLASGSLS GSPDVEECAP NTGQCHLCLP PSEPWDQTLG VVNFPRKASR KPPREESSAT 
CVLEQPGALG AQILLVQRPN SGLLAGLWEF PSVTWEPSEQ LQRKALLQEL QRWAGPLPAT 
HLRHLGEVVH TFSHIKLTYQ VYGLALEGQT PVTTVPPGAR WLTQEEFHTA AVSTAMKKVF 
RVYQGQQPGT CMGSKRSQVS SPCSRKKPRM GQQVLDNFFR SHISTDAHSL NSAAQ

Genular Protein ID: 2989182283

Symbol: E9PM53_HUMAN

Name: N/A

UniProtKB Accession Codes:

E9PM53

Database IDs:

ARBA 12 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 2 CTD 1 ChEBI 1 DNASU 1 DisGeNET 1 EC 1 EMBL 1 Ensembl 2 ExpressionAtlas 1 GO 6 Gene3D 2 GeneTree 1 HGNC 1 InterPro 11 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 3 PeptideAtlas 1 Pfam 3 Proteomes 2 ProteomicsDB 1 RefSeq 8 RuleBase 1 SMART 2 SMR 1 SUPFAM 2 UCSC 1 VEuPathDB 1

Citations:

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: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

Sequence Information:

  • Length: 535
  • Mass: 58690
  • Checksum: 1D8082DD1BE416EC
  • Sequence:
    • MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDAC AGMIAECPGA PAGLARQPEE 
VVLQASVSSY HLFRDVAEVT AFRGSLLSWY DQEKRDLPWR RRAEDEMDLD RRAYAVWVSE 
VMLQQTQVAT VINYYTGWMQ KWPTLQDLAS ASLEEVNQLW AGLGYYSRGR RLQEGARKVV 
EELGGHMPRT AETLQQLLPG VGRYTAGAIA SIAFGQATGV VDGNVARVLC RVRAIGADPS 
STLVSQQLWG LAQQLVDPAR PGDFNQAAME LGATVCTPQR PLCSQCPVES LCRARQRVEQ 
EQLLASGSLS GSPDVEECAP NTGQCHLCLP PSEPWDQTLG VVNFPRKASR KPPREESSAT 
CVLEQPGALG AQILLVQRPN SGLLAGLWEF PSVTWEPSEQ LQRKALLQEL QRWAGPLPAT 
HLRHLGEVVH TFSHIKLTYQ VYGLALEGQT PVTTVPPGAR WLTQEEFHTA AVSTAMKKVF 
RVYQGQQPGT CMGSKRSQVS SPCSRKKPRM GQQVLDNFFR SHISTDAHSL NSAAQ

Genular Protein ID: 723615834

Symbol: E5KP25_HUMAN

Name: N/A

UniProtKB Accession Codes:

E5KP25

Database IDs:

ARBA 12 BioGRID-ORCS 1 CDD 2 CTD 1 ChEBI 1 DNASU 1 DisGeNET 1 EC 1 EMBL 38 Ensembl 2 GO 5 Gene3D 2 GeneTree 1 HGNC 1 InterPro 11 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 4 PeptideAtlas 1 Pfam 3 Proteomes 2 ProteomicsDB 2 RefSeq 1 RuleBase 1 SAM 1 SMART 2 SUPFAM 2 UCSC 1 VEuPathDB 1

Citations:

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: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

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: 549
  • Mass: 60315
  • Checksum: 5827E180E6075ADA
  • Sequence:
    • MTPLVSRLSR LWAIMRKPRA AVGSGHRKQA ASQEGRQKHA KNNSQAKPSA CDACAGMIAE 
CPGAPAGLAR QPEEVVLQAS VSSYHLFRDV AEVTAFRGSL LSWYDQEKRD LPWRRRAEDE 
MDLDRRAYAV WVSEVMLQQT QVATVINYYT GWMQKWPTLQ DLASASLEEV NQLWAGLGYY 
SRGRRLQEGA RKVVEELGGH MPRTAETLQQ LLPGVGRYTA GAIASIAFGQ ATGVVDGNVA 
RVLCRVRAIG ADPSSTLVSQ QLWGLAQQLV DPARPGDFNQ AAMELGATVC TPQRPLCSQC 
PVESLCRARQ RVEQEQLLAS GSLSGSPDVE ECAPNTGQCH LCLPPSEPWD QTLGVVNFPR 
KASRKPPREE SSATCVLEQP GALGAQILLV QRPNSGLLAG LWEFPSVTWE PSEQLQRKAL 
LQELQRWAGP LPATHLRHLG EVVHTFSHIK LTYQVYGLAL EGQTPVTTVP PGARWLTQEE 
FHTAAVSTAM KKVFRVYQGQ QPGTCMGSKR SQVSSPCSRK KPRMGQQVLD NFFRSHISTD 
AHSLNSAAQ

Genular Protein ID: 3031483990

Symbol: E5KP28_HUMAN

Name: N/A

UniProtKB Accession Codes:

E5KP28

Database IDs:

ARBA 12 AlphaFoldDB 1 Antibodypedia 1 BioGRID-ORCS 1 CDD 2 CTD 1 ChEBI 1 DNASU 1 DisGeNET 1 EC 1 EMBL 39 ExpressionAtlas 1 GO 6 Gene3D 2 InterPro 11 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 4 Pfam 3 RefSeq 2 RuleBase 1 SAM 1 SMART 2 SMR 1 SUPFAM 2 VEuPathDB 1

Citations:

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

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: 522
  • Mass: 57517
  • Checksum: 8E913C90D72DF87E
  • Sequence:
    • MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDAG LARQPEEVVL QASVSSYHLF 
RDVAEVTAFR GSLLSWYDQE KRDLPWRRRA EDEMDLDRRA YAVWVSEVML QQTQVATVIN 
YYTGWMQKWP TLQDLASASL EEVNQLWAGL GYYSRGRRLQ EGARKVVEEL GGHMPRTAET 
LQQLLPGVGR YTAGAIASIA FGQATGVVDG NVARVLCRVR AIGADPSSTL VSQQLWGLAQ 
QLVDPARPGD FNQAAMELGA TVCTPQRPLC SQCPVESLCR ARQRVEQEQL LASGSLSGSP 
DVEECAPNTG QCHLCLPPSE PWDQTLGVVN FPRKASRKPP REESSATCVL EQPGALGAQI 
LLVQRPNSGL LAGLWEFPSV TWEPSEQLQR KALLQELQRW AGPLPATHLR HLGEVVHTFS 
HIKLTYQVYG LALEGQTPVT TVPPGARWLT QEEFHTAAVS TAMKKVFRVY QGQQPGTCMG 
SKRSQVSSPC SRKKPRMGQQ VLDNFFRSHI STDAHSLNSA AQ