Details for: KDM5C

Gene ID: 8242

Symbol: KDM5C

Ensembl ID: ENSG00000126012

Description: lysine demethylase 5C

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: 164.3895
    Cell Significance Index: -25.5700
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 99.2930
    Cell Significance Index: -25.1900
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 69.2321
    Cell Significance Index: -28.5200
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 57.7467
    Cell Significance Index: -23.4600
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 24.7815
    Cell Significance Index: -23.6600
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 21.5093
    Cell Significance Index: -26.5200
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 10.2954
    Cell Significance Index: -27.5800
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 7.5241
    Cell Significance Index: -23.1100
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 6.8581
    Cell Significance Index: -27.0600
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.4912
    Cell Significance Index: 242.5300
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.1573
    Cell Significance Index: 15.7900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.0444
    Cell Significance Index: 209.5000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.9083
    Cell Significance Index: 180.2600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.8712
    Cell Significance Index: 45.3800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.8588
    Cell Significance Index: 93.4100
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.8047
    Cell Significance Index: 48.3100
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.5671
    Cell Significance Index: 29.4600
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.5366
    Cell Significance Index: 15.0000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.5230
    Cell Significance Index: 32.9600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.4901
    Cell Significance Index: 14.1200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.4763
    Cell Significance Index: 170.8400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.4690
    Cell Significance Index: 46.3900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.4449
    Cell Significance Index: 30.7700
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.4214
    Cell Significance Index: 291.4800
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.4186
    Cell Significance Index: 51.4700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.4007
    Cell Significance Index: 218.8300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.3872
    Cell Significance Index: 23.8000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.3704
    Cell Significance Index: 66.7800
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.3604
    Cell Significance Index: 10.3300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.3516
    Cell Significance Index: 48.2800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.3430
    Cell Significance Index: 7.4300
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.3318
    Cell Significance Index: 21.4100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.3087
    Cell Significance Index: 136.4900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.2070
    Cell Significance Index: 15.8900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2023
    Cell Significance Index: 9.1700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.1867
    Cell Significance Index: 22.0200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1863
    Cell Significance Index: 35.4500
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.1605
    Cell Significance Index: 2.5800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.1476
    Cell Significance Index: 6.8800
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.1372
    Cell Significance Index: 3.2900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.1304
    Cell Significance Index: 7.3200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.1274
    Cell Significance Index: 5.9900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.1100
    Cell Significance Index: 8.2000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0891
    Cell Significance Index: 3.1300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.0665
    Cell Significance Index: 4.4700
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.0350
    Cell Significance Index: 0.9200
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0332
    Cell Significance Index: 4.2500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0283
    Cell Significance Index: 53.3000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0275
    Cell Significance Index: 4.6900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.0190
    Cell Significance Index: 17.2000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.0184
    Cell Significance Index: 0.5000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0117
    Cell Significance Index: 7.4200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.0111
    Cell Significance Index: 0.4900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0102
    Cell Significance Index: 15.7300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0071
    Cell Significance Index: 9.6900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0055
    Cell Significance Index: 10.2300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0041
    Cell Significance Index: -0.1100
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0060
    Cell Significance Index: -0.7800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0074
    Cell Significance Index: -0.1900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0094
    Cell Significance Index: -4.2600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0127
    Cell Significance Index: -0.2700
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0140
    Cell Significance Index: -0.9900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0154
    Cell Significance Index: -11.6700
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0188
    Cell Significance Index: -13.8100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0296
    Cell Significance Index: -21.9300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0335
    Cell Significance Index: -4.8700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0403
    Cell Significance Index: -22.7100
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0475
    Cell Significance Index: -29.6900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0604
    Cell Significance Index: -6.9200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0643
    Cell Significance Index: -6.5700
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.0736
    Cell Significance Index: -1.7000
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0770
    Cell Significance Index: -1.3200
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0879
    Cell Significance Index: -3.3300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0951
    Cell Significance Index: -27.3700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1344
    Cell Significance Index: -28.3000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1630
    Cell Significance Index: -19.0000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1743
    Cell Significance Index: -9.1500
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.2034
    Cell Significance Index: -4.2200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2267
    Cell Significance Index: -23.6100
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.2498
    Cell Significance Index: -4.8800
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.2768
    Cell Significance Index: -6.0600
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.2768
    Cell Significance Index: -3.3000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3080
    Cell Significance Index: -24.3900
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.3238
    Cell Significance Index: -4.8800
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.3258
    Cell Significance Index: -11.3200
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.3343
    Cell Significance Index: -9.5400
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.3347
    Cell Significance Index: -3.0800
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.3517
    Cell Significance Index: -21.5600
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.3850
    Cell Significance Index: -5.4800
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.3922
    Cell Significance Index: -9.5700
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.4146
    Cell Significance Index: -5.3100
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.4199
    Cell Significance Index: -7.7600
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.4251
    Cell Significance Index: -11.3700
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.4368
    Cell Significance Index: -9.2700
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.4581
    Cell Significance Index: -14.5900
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.4763
    Cell Significance Index: -24.0700
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.4890
    Cell Significance Index: -14.3600
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.5000
    Cell Significance Index: -16.3700
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.5155
    Cell Significance Index: -7.6100
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.5175
    Cell Significance Index: -11.1800

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** KDM5C is a lysine-specific demethylase that belongs to the JMD family of enzymes. It is characterized by its ability to remove methyl groups from histone 3 lysine 4 (H3K4) and histone 3 lysine 4 trimethylation (H3K4me3). This demethylation activity is essential for the activation of gene transcription, as it leads to the relaxation of chromatin structure and the recruitment of transcriptional machinery. KDM5C is also characterized by its ability to bind to DNA and histone proteins, allowing for the precise targeting of its demethylase activity to specific genomic regions. **Pathways and Functions** KDM5C is involved in several chromatin-related pathways, including: 1. **Chromatin Remodeling**: KDM5C plays a crucial role in chromatin remodeling by removing methyl groups from histone 3 lysine 4 (H3K4) and histone 3 lysine 4 trimethylation (H3K4me3). This demethylation activity leads to the relaxation of chromatin structure, allowing for the recruitment of transcriptional machinery and the activation of gene transcription. 2. **Regulation of DNA-templated Transcription**: KDM5C is involved in the regulation of DNA-templated transcription by removing methyl groups from histone 3 lysine 4 (H3K4) and histone 3 lysine 4 trimethylation (H3K4me3). This demethylation activity leads to the activation of gene transcription and the regulation of cellular processes such as cell growth, differentiation, and survival. 3. **Rhythmic Process**: KDM5C has been implicated in the regulation of rhythmic processes, including circadian rhythms and metabolic processes. Its ability to remove methyl groups from histone 3 lysine 4 (H3K4) and histone 3 lysine 4 trimethylation (H3K4me3) leads to the activation of gene transcription and the regulation of these processes. **Clinical Significance** Dysregulation of KDM5C has been implicated in various diseases, including: 1. **Cancer**: KDM5C has been shown to be involved in the regulation of cancer cell growth and survival. Its dysregulation has been implicated in the development and progression of various cancers, including leukemia and lymphoma. 2. **Neurological Disorders**: KDM5C has been implicated in the regulation of neuronal function and survival. Its dysregulation has been linked to the development of neurological disorders, including Alzheimer's disease and Parkinson's disease. 3. **Metabolic Disorders**: KDM5C has been shown to play a role in the regulation of metabolic processes, including glucose and lipid metabolism. Its dysregulation has been implicated in the development of metabolic disorders, including diabetes and obesity. In conclusion, KDM5C is a critical regulator of chromatin structure and function, playing a key role in the regulation of gene transcription, chromatin remodeling, and rhythmic processes. Its dysregulation has been implicated in various diseases, highlighting the importance of this gene in maintaining normal cellular function and preventing disease.

Genular Protein ID: 2768432041

Symbol: KDM5C_HUMAN

Name: Lysine-specific demethylase 5C

UniProtKB Accession Codes:

P41229 B0QZ44 B4E3I2 F5H3T1 Q5JUX3 Q5JUX4 Q5JUX5 Q7Z5S5

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 4 CDD 3 CTD 1 ChEBI 15 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 6 Ensembl 5 EvolutionaryTrace 1 ExpressionAtlas 1 GO 14 Gene3D 3 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 12 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 2 PIR 1 PRO 1 PROSITE 5 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 7 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 5 Pumba 1 RNAct 1 Reactome 1 RefSeq 5 Rhea 3 SIGNOR 1 SMART 5 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8162017

Title: Isolation and characterization of XE169, a novel human gene that escapes X-inactivation.

PubMed ID: 8162017

DOI: 10.1093/hmg/3.1.153

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

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: 7951230

Title: A novel X gene with a widely transcribed Y-linked homologue escapes X-inactivation in mouse and human.

PubMed ID: 7951230

DOI: 10.1093/hmg/3.6.879

PubMed ID: 16964243

Title: A probability-based approach for high-throughput protein phosphorylation analysis and site localization.

PubMed ID: 16964243

DOI: 10.1038/nbt1240

PubMed ID: 17320161

Title: RBP2 belongs to a family of demethylases, specific for tri-and dimethylated lysine 4 on histone 3.

PubMed ID: 17320161

DOI: 10.1016/j.cell.2007.02.003

PubMed ID: 17320160

Title: The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases.

PubMed ID: 17320160

DOI: 10.1016/j.cell.2007.02.017

PubMed ID: 17468742

Title: The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation.

PubMed ID: 17468742

DOI: 10.1038/nature05823

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 23186163

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

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 26645689

Title: Characterization of a Linked Jumonji Domain of the KDM5/JARID1 Family of Histone H3 Lysine 4 Demethylases.

PubMed ID: 26645689

DOI: 10.1074/jbc.m115.698449

PubMed ID: 28262558

Title: Potent and Selective KDM5 Inhibitor Stops Cellular Demethylation of H3K4me3 at Transcription Start Sites and Proliferation of MM1S Myeloma Cells.

PubMed ID: 28262558

DOI: 10.1016/j.chembiol.2017.02.006

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: 33323928

Title: Suppression of poised oncogenes by ZMYND8 promotes chemo-sensitization.

PubMed ID: 33323928

DOI: 10.1038/s41419-020-03129-x

PubMed ID: 19636912

Title: Backbone and sidechain 1H, 13C and 15N resonance assignments of the Bright/ARID domain from the human JARID1C (SMCX) protein.

PubMed ID: 19636912

DOI: 10.1007/s12104-007-9071-7

PubMed ID: 27214403

Title: Structural analysis of human KDM5B guides histone demethylase inhibitor development.

PubMed ID: 27214403

DOI: 10.1038/nchembio.2087

PubMed ID: 15586325

Title: Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.

PubMed ID: 15586325

DOI: 10.1086/427563

PubMed ID: 16538222

Title: A novel mutation in JARID1C gene associated with mental retardation.

PubMed ID: 16538222

DOI: 10.1038/sj.ejhg.5201608

PubMed ID: 16541399

Title: Novel JARID1C/SMCX mutations in patients with X-linked mental retardation.

PubMed ID: 16541399

DOI: 10.1002/humu.9420

PubMed ID: 21076407

Title: A de novo paradigm for mental retardation.

PubMed ID: 21076407

DOI: 10.1038/ng.712

PubMed ID: 23356856

Title: Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C.

PubMed ID: 23356856

DOI: 10.1186/1755-8794-6-1

PubMed ID: 25666439

Title: Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity.

PubMed ID: 25666439

DOI: 10.1093/hmg/ddv046

Sequence Information:

  • Length: 1560
  • Mass: 175720
  • Checksum: 5DC673D0091E7C87
  • Sequence:
    • MEPGSDDFLP PPECPVFEPS WAEFRDPLGY IAKIRPIAEK SGICKIRPPA DWQPPFAVEV 
DNFRFTPRIQ RLNELEAQTR VKLNYLDQIA KFWEIQGSSL KIPNVERRIL DLYSLSKIVV 
EEGGYEAICK DRRWARVAQR LNYPPGKNIG SLLRSHYERI VYPYEMYQSG ANLVQCNTRP 
FDNEEKDKEY KPHSIPLRQS VQPSKFNSYG RRAKRLQPDP EPTEEDIEKN PELKKLQIYG 
AGPKMMGLGL MAKDKTLRKK DKEGPECPPT VVVKEELGGD VKVESTSPKT FLESKEELSH 
SPEPCTKMTM RLRRNHSNAQ FIESYVCRMC SRGDEDDKLL LCDGCDDNYH IFCLLPPLPE 
IPKGVWRCPK CVMAECKRPP EAFGFEQATR EYTLQSFGEM ADSFKADYFN MPVHMVPTEL 
VEKEFWRLVN SIEEDVTVEY GADIHSKEFG SGFPVSDSKR HLTPEEEEYA TSGWNLNVMP 
VLEQSVLCHI NADISGMKVP WLYVGMVFSA FCWHIEDHWS YSINYLHWGE PKTWYGVPSL 
AAEHLEEVMK KLTPELFDSQ PDLLHQLVTL MNPNTLMSHG VPVVRTNQCA GEFVITFPRA 
YHSGFNQGYN FAEAVNFCTA DWLPAGRQCI EHYRRLRRYC VFSHEELICK MAACPEKLDL 
NLAAAVHKEM FIMVQEERRL RKALLEKGIT EAEREAFELL PDDERQCIKC KTTCFLSALA 
CYDCPDGLVC LSHINDLCKC SSSRQYLRYR YTLDELPAML HKLKVRAESF DTWANKVRVA 
LEVEDGRKRS LEELRALESE ARERRFPNSE LLQQLKNCLS EAEACVSRAL GLVSGQEAGP 
HRVAGLQMTL TELRAFLDQM NNLPCAMHQI GDVKGVLEQV EAYQAEAREA LASLPSSPGL 
LQSLLERGRQ LGVEVPEAQQ LQRQVEQARW LDEVKRTLAP SARRGTLAVM RGLLVAGASV 
APSPAVDKAQ AELQELLTIA ERWEEKAHLC LEARQKHPPA TLEAIIREAE NIPVHLPNIQ 
ALKEALAKAR AWIADVDEIQ NGDHYPCLDD LEGLVAVGRD LPVGLEELRQ LELQVLTAHS 
WREKASKTFL KKNSCYTLLE VLCPCADAGS DSTKRSRWME KELGLYKSDT ELLGLSAQDL 
RDPGSVIVAF KEGEQKEKEG ILQLRRTNSA KPSPLASSST ASSTTSICVC GQVLAGAGAL 
QCDLCQDWFH GRCVSVPRLL SSPRPNPTSS PLLAWWEWDT KFLCPLCMRS RRPRLETILA 
LLVALQRLPV RLPEGEALQC LTERAISWQG RARQALASED VTALLGRLAE LRQRLQAEPR 
PEEPPNYPAA PASDPLREGS GKDMPKVQGL LENGDSVTSP EKVAPEEGSG KRDLELLSSL 
LPQLTGPVLE LPEATRAPLE ELMMEGDLLE VTLDENHSIW QLLQAGQPPD LERIRTLLEL 
EKAERHGSRA RGRALERRRR RKVDRGGEGD DPAREELEPK RVRSSGPEAE EVQEEEELEE 
ETGGEGPPAP IPTTGSPSTQ ENQNGLEPAE GTTSGPSAPF STLTPRLHLP CPQQPPQQQL

Genular Protein ID: 1426128277

Symbol: A0A6M4C8G8_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A6M4C8G8

Database IDs:

ARBA 12 CDD 1 CTD 1 ChEBI 8 DNASU 1 DisGeNET 1 EC 1 EMBL 2 ExpressionAtlas 1 GO 9 Gene3D 3 InterPro 12 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 9 PROSITE-ProRule 1 Pfam 7 RefSeq 1 Rhea 3 SAM 1 SMART 5 SMR 1 SUPFAM 3

Sequence Information:

  • Length: 1379
  • Mass: 155119
  • Checksum: 20A82456B8CF788E
  • Sequence:
    • MEPGSDDFLP PPECPVFEPS WAEFRDPLGY IAKIRPIAEK SGICKIRPPA IVVEEGGYEA 
ICKDRRWARV AQRLNYPPGK NIGSLLRSHY ERIVYPYEMY QSGANLVQCN TRPFDNEEKD 
KEYKPHSIPL RQSVQPSKFN SYGRRAKRLQ PDPEPTEEDI EKNPELKKLQ IYGAGPKMMG 
LGLMAKDKTL RKKDKEGPEC PPTVVVKEEL GGDVKVESTS PKTFLESKEE LSHSPEPCTK 
MTMRLRRNHS NAQFIESYVC RMCSRGDEDD KLLLCDGCDD NYHIFCLLPP LPEIPKGVWR 
CPKCVMAECK RPPEAFGFEQ ATREYTLQSF GEMADSFKAD YFNMPVHMVP TELVEKEFWR 
LVNSIEEDVT VEYGADIHSK EFGSGFPVSD SKRHLTPEEE EYATSGWNLN VMPVLEQSVL 
CHINADISGM KVPWLYVGMV FSAFCWHIED HWSYSINYLH WGEPKTWYGV PSLAAEHLEE 
VMKKLTPELF DSQPDLLHQL VTLMNPNTLM SHGVPVVRTN QCAGEFVITF PRAYHSGFNQ 
GYNFAEAVNF CTADWLPAGR QCIEHYRRLR RYCVFSHEEL ICKMAACPEK LDLNLAAAVH 
KEMFIMVQEE RRLRKALLEK GITEAEREAF ELLPDDERQC IKCKTTCFLS ALACYDCPDG 
LVCLSHINDL CKCSSSRQYL RYRYTLDELP AMLHKLKVRA ESFDTWANKV RVALEVEDGR 
KRSLEELRAL ESEARERRFP NSELLQQLKN CLSEAEACVS RALGLVSGQE AGPHRVAGLQ 
MTLTELRAFL DQMNNLPCAM HQIGDVKGVL EQVEAYQAEA REALASLPSS PGLLQSLLER 
GRQLGVEVPE AQQLQRQVEQ ARWLDEVKRT LAPSARRGTL AVMRGLLVAG ASVAPSPAVD 
KAQAELQELL TIAERWEEKA HLCLEARQKH PPATLEAIIR EAENIPVHLP NIQALKEALA 
KARAWIADVD EIQNGDHYPC LDDLEGLVAV GRDLPVGLEE LRQLELQVLT AHSWREKASK 
TFLKKNSCYT LLEVLCPCAD AGSDSTKRSR WMEKELGLYK SDTELLGLSA QDLRDPGSVI 
VAFKEGEQKE KEGILQLRRT NSAKPSPLAS SSTASSTTSI CVCGQVLAGA GALQCDLCQD 
WFHGRCVSVP RLLSSPRPNP TSSPLLAWWE WDTKFLCPLC MRSRRPRLET ILALLVALQR 
LPVRLPEGEA LQCLTERAIS WQGRARQALA SEDVTALLGR LAELRQRLQA EPRPEEPPNY 
PAAPASDPLR EGSGKDMPKV QGLLENGDSV TSPEKVAPEE GSDLELLSSL LPQLTGPVLE 
LPEATRAPLE ELMMEGDLLE VTLDENHSIP ESLDFCILTP RYCSDLSSWG PAPGVFPPW

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.