Details for: MUTYH

Gene ID: 4595

Symbol: MUTYH

Ensembl ID: ENSG00000132781

Description: mutY DNA glycosylase

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 61.1076
    Cell Significance Index: -9.5100
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 28.4257
    Cell Significance Index: -7.2100
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 23.4088
    Cell Significance Index: -9.5100
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 22.5789
    Cell Significance Index: -10.6600
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 10.0132
    Cell Significance Index: -9.5600
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 8.5486
    Cell Significance Index: -10.5400
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 3.5314
    Cell Significance Index: -9.4600
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 2.8358
    Cell Significance Index: -8.7100
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 2.7445
    Cell Significance Index: -10.8300
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.9025
    Cell Significance Index: 98.1700
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.8865
    Cell Significance Index: 53.2200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.7875
    Cell Significance Index: 128.0900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.5460
    Cell Significance Index: 34.4100
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.4767
    Cell Significance Index: 8.1700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.4661
    Cell Significance Index: 32.2400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.4606
    Cell Significance Index: 12.3000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.4169
    Cell Significance Index: 18.9000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3755
    Cell Significance Index: 339.0700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.3126
    Cell Significance Index: 16.2400
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.2924
    Cell Significance Index: 10.1600
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.2810
    Cell Significance Index: 55.7700
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2802
    Cell Significance Index: 6.0700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.2690
    Cell Significance Index: 77.4100
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.2493
    Cell Significance Index: 29.4000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.2210
    Cell Significance Index: 27.1700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2125
    Cell Significance Index: 38.3000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.2024
    Cell Significance Index: 5.5100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.1712
    Cell Significance Index: 34.3400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1689
    Cell Significance Index: 4.7200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1563
    Cell Significance Index: 29.7500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1538
    Cell Significance Index: 21.1200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1478
    Cell Significance Index: 14.6200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.1446
    Cell Significance Index: 9.3300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1302
    Cell Significance Index: 46.7100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.1112
    Cell Significance Index: 2.7800
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1075
    Cell Significance Index: 13.7800
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.1062
    Cell Significance Index: 2.8500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.1044
    Cell Significance Index: 5.8600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1036
    Cell Significance Index: 3.6400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1016
    Cell Significance Index: 55.4700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0887
    Cell Significance Index: 1.4900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0856
    Cell Significance Index: 3.9900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0829
    Cell Significance Index: 36.6300
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.0780
    Cell Significance Index: 0.9300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0753
    Cell Significance Index: 2.1700
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.0680
    Cell Significance Index: 1.8200
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.0579
    Cell Significance Index: 0.7900
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0578
    Cell Significance Index: 3.5500
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 0.0324
    Cell Significance Index: 0.2500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0287
    Cell Significance Index: 0.9200
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.0237
    Cell Significance Index: 0.6800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0219
    Cell Significance Index: 1.0300
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.0086
    Cell Significance Index: 0.4500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0071
    Cell Significance Index: 0.5500
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.0067
    Cell Significance Index: 0.1400
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.0038
    Cell Significance Index: 0.1000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0038
    Cell Significance Index: 0.2000
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.0007
    Cell Significance Index: -0.0100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0045
    Cell Significance Index: -8.3900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0052
    Cell Significance Index: -9.5700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0061
    Cell Significance Index: -1.0400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0065
    Cell Significance Index: -10.0000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0075
    Cell Significance Index: -5.6600
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.0077
    Cell Significance Index: -0.0800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0081
    Cell Significance Index: -11.0800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0086
    Cell Significance Index: -6.3300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0087
    Cell Significance Index: -1.1300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0118
    Cell Significance Index: -8.7700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0127
    Cell Significance Index: -8.0800
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0155
    Cell Significance Index: -0.3300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0155
    Cell Significance Index: -8.7500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0181
    Cell Significance Index: -1.2800
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0183
    Cell Significance Index: -11.4100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0216
    Cell Significance Index: -9.8000
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0219
    Cell Significance Index: -0.5600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0251
    Cell Significance Index: -2.5600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0283
    Cell Significance Index: -3.2500
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.0322
    Cell Significance Index: -0.3500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0387
    Cell Significance Index: -4.5100
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: -0.0387
    Cell Significance Index: -0.2500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0393
    Cell Significance Index: -2.9300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0528
    Cell Significance Index: -11.1200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0535
    Cell Significance Index: -7.7800
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.0557
    Cell Significance Index: -1.6400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0898
    Cell Significance Index: -6.0400
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0951
    Cell Significance Index: -2.8000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1038
    Cell Significance Index: -10.8100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1133
    Cell Significance Index: -5.0100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1206
    Cell Significance Index: -9.5500
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.1406
    Cell Significance Index: -1.8000
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1418
    Cell Significance Index: -3.1100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1443
    Cell Significance Index: -8.8500
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1463
    Cell Significance Index: -5.5400
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.1466
    Cell Significance Index: -2.5400
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.1614
    Cell Significance Index: -3.8700
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.1922
    Cell Significance Index: -4.6900
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.2060
    Cell Significance Index: -4.0200
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.2187
    Cell Significance Index: -3.4700
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2247
    Cell Significance Index: -7.8700
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.2254
    Cell Significance Index: -7.1800

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** MutYH is a 23-kDa protein that belongs to the mutY family of DNA glycosylases. It is characterized by its ability to recognize and bind to 8-oxoG, as well as its capacity to catalyze the removal of this damaged base from DNA. MutYH is also known for its ability to form a complex with other proteins, such as MutLα and MutSα, which are involved in the BER pathway. The enzyme is primarily expressed in cells that are sensitive to oxidative stress, such as neurons and intestinal epithelial cells. **Pathways and Functions** MutYH plays a critical role in the base excision repair pathway, which is responsible for repairing damaged bases in DNA. The enzyme recognizes and binds to 8-oxoG, which is a common mutagenic lesion caused by oxidative stress. Once bound, MutYH catalyzes the removal of the damaged base from DNA, resulting in the formation of an abasic site. This site is then recognized by other enzymes, such as MutT and MutY, which complete the repair process. MutYH also plays a role in the recognition and association of DNA glycosylases with sites containing affected purines. **Clinical Significance** The absence or dysfunction of MutYH has been associated with various diseases, including: 1. **Hereditary nonpolyposis colorectal cancer (HNPCC)**: MutYH mutations have been identified as a major risk factor for HNPCC, a condition characterized by an increased risk of colorectal cancer. 2. **Neurodegenerative disorders**: MutYH mutations have been associated with neurodegenerative disorders, such as Parkinson's disease and ataxia. 3. **Cancer**: MutYH mutations have been identified in various types of cancer, including breast cancer and ovarian cancer. 4. **Atherosclerosis**: MutYH mutations have been linked to an increased risk of atherosclerosis, a condition characterized by the buildup of plaque in the arteries. In addition to its role in disease prevention, MutYH is also an important target for cancer therapy. The enzyme is highly specific and can be targeted by small molecule inhibitors, which can selectively kill cancer cells while sparing normal cells. In conclusion, MutYH is a critical enzyme involved in the base excision repair pathway, which plays a vital role in maintaining genomic stability. The absence or dysfunction of MutYH has been associated with various diseases, including cancer and neurodegenerative disorders, highlighting the importance of this enzyme in human health.

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

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.