Details for: CPS1

Gene ID: 1373

Symbol: CPS1

Ensembl ID: ENSG00000021826

Description: carbamoyl-phosphate synthase 1

Associated with

Cells (max top 100)

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

  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 11.88
    Marker Score: 38,926
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 8.33
    Marker Score: 12,840
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 2.6
    Marker Score: 13,976
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 2.05
    Marker Score: 13,154
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.99
    Marker Score: 8,602
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 1.63
    Marker Score: 613
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 1.6
    Marker Score: 604
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.48
    Marker Score: 169,393
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 1.43
    Marker Score: 347
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 1.34
    Marker Score: 1,436
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 1.26
    Marker Score: 6,040
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.05
    Marker Score: 2,138
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.01
    Marker Score: 1,912
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,821
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48,046
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.99
    Marker Score: 678
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.98
    Marker Score: 506
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,408
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.97
    Marker Score: 460
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.95
    Marker Score: 1,547
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2,413
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.95
    Marker Score: 2,245
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5,344
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2,738
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.9
    Marker Score: 2,128
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 322
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,296
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.86
    Marker Score: 13,474
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.81
    Marker Score: 617
  • Cell Name: inflammatory macrophage (CL0000863)
    Fold Change: 0.81
    Marker Score: 250
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.8
    Marker Score: 481
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 0.77
    Marker Score: 766
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.76
    Marker Score: 3,198
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 394
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.76
    Marker Score: 757
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.75
    Marker Score: 688
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.74
    Marker Score: 297
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.74
    Marker Score: 6,997
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.72
    Marker Score: 6,816
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.71
    Marker Score: 297
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.7
    Marker Score: 42,985
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.7
    Marker Score: 445
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.68
    Marker Score: 175
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.66
    Marker Score: 211
  • Cell Name: respiratory basal cell (CL0002633)
    Fold Change: 0.65
    Marker Score: 931
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.63
    Marker Score: 3,773
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.59
    Marker Score: 915
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.57
    Marker Score: 180
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.56
    Marker Score: 4,829
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 445
  • Cell Name: endothelial cell of periportal hepatic sinusoid (CL0019021)
    Fold Change: 0.56
    Marker Score: 153
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.55
    Marker Score: 143
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.55
    Marker Score: 150
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.54
    Marker Score: 157
  • Cell Name: progenitor cell of endocrine pancreas (CL0002351)
    Fold Change: 0.52
    Marker Score: 113
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.52
    Marker Score: 233
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.51
    Marker Score: 211
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.49
    Marker Score: 236
  • Cell Name: enterocyte of epithelium proper of ileum (CL1000342)
    Fold Change: 0.49
    Marker Score: 141
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.45
    Marker Score: 1,599
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.43
    Marker Score: 1,818
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.42
    Marker Score: 9,454
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.42
    Marker Score: 194
  • Cell Name: paneth cell (CL0000510)
    Fold Change: 0.41
    Marker Score: 286
  • Cell Name: M cell of gut (CL0000682)
    Fold Change: 0.38
    Marker Score: 98
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.35
    Marker Score: 130
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.34
    Marker Score: 152
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.3
    Marker Score: 346
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.29
    Marker Score: 11,082
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 0.29
    Marker Score: 237
  • Cell Name: type I enteroendocrine cell (CL0002277)
    Fold Change: 0.29
    Marker Score: 71
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.28
    Marker Score: 659
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.27
    Marker Score: 111
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.27
    Marker Score: 82
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.27
    Marker Score: 520
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.26
    Marker Score: 165
  • Cell Name: fat cell (CL0000136)
    Fold Change: 0.26
    Marker Score: 145
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.26
    Marker Score: 237
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.26
    Marker Score: 64
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.26
    Marker Score: 5,454
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.25
    Marker Score: 5,022
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.25
    Marker Score: 299
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 0.24
    Marker Score: 766
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.24
    Marker Score: 64
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.23
    Marker Score: 938
  • Cell Name: type L enteroendocrine cell (CL0002279)
    Fold Change: 0.23
    Marker Score: 62
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.23
    Marker Score: 195
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.22
    Marker Score: 64
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 0.22
    Marker Score: 214
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.22
    Marker Score: 139
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.22
    Marker Score: 2,280
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.21
    Marker Score: 63
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.21
    Marker Score: 84
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 0.2
    Marker Score: 195
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 0.2
    Marker Score: 246
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.2
    Marker Score: 93
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.2
    Marker Score: 213
  • Cell Name: epithelial fate stem cell (CL0000036)
    Fold Change: 0.2
    Marker Score: 57
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 0.2
    Marker Score: 52
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.19
    Marker Score: 519

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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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:** CPS1 is a mitochondrial enzyme that catalyzes the first committed step of the urea cycle, converting ammonia to carbamoyl phosphate. The enzyme is composed of two subunits, CPSM_HUMAN and Q6PEK7_HUMAN, which are encoded by separate genes. CPS1 is characterized by its high specificity for ammonia and its ability to generate carbamoyl phosphate at a high rate. The enzyme is also sensitive to various regulatory factors, including calcium ions, ATP, and glucagon. **Pathways and Functions:** CPS1 is involved in several metabolic pathways, including: 1. **Urea Cycle:** CPS1 is the first enzyme in the urea cycle, which regulates the disposal of excess nitrogen waste from the body. The enzyme catalyzes the conversion of ammonia to carbamoyl phosphate, which is then converted to citrulline and subsequently to arginine. 2. **Pyrimidine Nucleobase Biosynthesis:** CPS1 is also involved in the synthesis of pyrimidine nucleobases, such as cytosine and thymine. The enzyme generates carbamoyl phosphate, which is then converted to orotate and subsequently to orotidine-5'-phosphate. 3. **Amino Acid Biosynthesis:** CPS1 is involved in the synthesis of amino acids, including arginine, citrulline, and asparagine. The enzyme generates carbamoyl phosphate, which is then converted to these amino acids. **Clinical Significance:** CPS1 plays a crucial role in maintaining nitrogen homeostasis in the body. Mutations in the CPS1 gene have been associated with various disorders, including: 1. **Urea Cycle Disorders:** Mutations in the CPS1 gene can lead to defects in the urea cycle, resulting in the accumulation of ammonia and the development of urea cycle disorders, such as hyperammonemia. 2. **Pyrimidine Deficiencies:** Deficiencies in CPS1 have been associated with pyrimidine deficiencies, which can lead to impaired DNA synthesis and cell growth. 3. **Amino Acid Metabolism Disorders:** CPS1 is also involved in the synthesis of amino acids, and mutations in the gene can lead to disorders affecting amino acid metabolism, such as arginine deficiency. In conclusion, CPS1 is a vital enzyme that plays a crucial role in various metabolic pathways, including the urea cycle, pyrimidine nucleobase biosynthesis, and amino acid biosynthesis. Mutations in the CPS1 gene can lead to various disorders, highlighting the importance of this enzyme in maintaining nitrogen homeostasis and overall human health.

Genular Protein ID: 3053083958

Symbol: CPSM_HUMAN

Name: Carbamoyl-phosphate synthase [ammonia], mitochondrial

UniProtKB Accession Codes:

P31327 B7Z818 J3KQL0 O43774 Q53TL5 Q59HF8 Q7Z5I5

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 2 CTD 1 ChEBI 13 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 DrugCentral 1 EC 1 EMBL 50 EPD 1 Ensembl 6 EvolutionaryTrace 1 ExpressionAtlas 1 GO 46 Gene3D 7 GeneCards 1 GeneReviews 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HAMAP 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 16 KEGG 1 MANE-Select 1 MEROPS 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 NCBIfam 2 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 19 PDBsum 14 PIR 1 PRINTS 2 PRO 1 PROSITE 5 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 5 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 1 RefSeq 7 Rhea 1 SABIO-RK 1 SIGNOR 1 SMART 3 SMR 1 STRING 1 SUPFAM 6 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1840546

Title: Cloning and sequence of a cDNA encoding human carbamyl phosphate synthetase I: molecular analysis of hyperammonemia.

PubMed ID: 1840546

DOI: 10.1016/0378-1119(91)90336-a

PubMed ID: 9711878

Title: Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1.

PubMed ID: 9711878

DOI: 10.1002/(sici)1098-1004(1998)12:3<206::aid-humu8>3.0.co;2-e

PubMed ID: 12853138

Title: Characterization of genomic structure and polymorphisms in the human carbamyl phosphate synthetase I gene.

PubMed ID: 12853138

DOI: 10.1016/s0378-1119(03)00528-6

PubMed ID: 12955727

Title: Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions.

PubMed ID: 12955727

DOI: 10.1002/humu.9184

PubMed ID: 12655559

Title: Gene structure of human carbamylphosphate synthetase 1 and novel mutations in patients with neonatal onset.

PubMed ID: 12655559

DOI: 10.1002/humu.9118

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

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: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 19754428

Title: Structural insight on the control of urea synthesis: identification of the binding site for N-acetyl-L-glutamate, the essential allosteric activator of mitochondrial carbamoyl phosphate synthetase.

PubMed ID: 19754428

DOI: 10.1042/bj20090888

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22002106

Title: Systematic analysis of protein pools, isoforms, and modifications affecting turnover and subcellular localization.

PubMed ID: 22002106

DOI: 10.1074/mcp.m111.013680

PubMed ID: 23186163

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

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24703693

Title: Lysine glutarylation is a protein posttranslational modification regulated by SIRT5.

PubMed ID: 24703693

DOI: 10.1016/j.cmet.2014.03.014

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 11388595

Title: Genetic analysis of carbamoylphosphate synthetase I and ornithine transcarbamylase deficiency using fibroblasts.

PubMed ID: 11388595

DOI: 10.1007/s004310100725

PubMed ID: 11474210

Title: Novel mutations (H337R and 238-362del) in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency.

PubMed ID: 11474210

DOI: 10.1159/000053360

PubMed ID: 11407344

Title: Neonatal pulmonary hypertension -- urea-cycle intermediates, nitric oxide production, and carbamoyl-phosphate synthetase function.

PubMed ID: 11407344

DOI: 10.1056/nejm200106143442404

PubMed ID: 15617192

Title: Mutational analysis of carbamoylphosphate synthetase I deficiency in three Japanese patients.

PubMed ID: 15617192

DOI: 10.1023/b:boli.0000045842.59768.ea

PubMed ID: 15164414

Title: Genetic approach to prenatal diagnosis in urea cycle defects.

PubMed ID: 15164414

DOI: 10.1002/pd.884

PubMed ID: 16737834

Title: The frequent observation of evidence for nonsense-mediated decay in RNA from patients with carbamyl phosphate synthetase I deficiency.

PubMed ID: 16737834

DOI: 10.1016/j.ymgme.2006.04.006

PubMed ID: 17310273

Title: Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency.

PubMed ID: 17310273

DOI: 10.1007/s10038-007-0122-9

PubMed ID: 20578160

Title: Understanding carbamoyl-phosphate synthetase I (CPS1) deficiency by using expression studies and structure-based analysis.

PubMed ID: 20578160

DOI: 10.1002/humu.21272

PubMed ID: 20520828

Title: The T1405N carbamoyl phosphate synthetase polymorphism does not affect plasma arginine concentrations in preterm infants.

PubMed ID: 20520828

DOI: 10.1371/journal.pone.0010792

PubMed ID: 21120950

Title: Molecular defects in human carbamoyl phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations.

PubMed ID: 21120950

DOI: 10.1002/humu.21406

PubMed ID: 21767969

Title: Personalized genomic medicine: lessons from the exome.

PubMed ID: 21767969

DOI: 10.1016/j.ymgme.2011.06.022

PubMed ID: 22173106

Title: Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort.

PubMed ID: 22173106

DOI: 10.1016/j.gene.2011.11.052

PubMed ID: 23649895

Title: Molecular characterization of carbamoyl-phosphate synthetase (CPS1) deficiency using human recombinant CPS1 as a key tool.

PubMed ID: 23649895

DOI: 10.1002/humu.22349

PubMed ID: 24237036

Title: Large-scale quantification of single amino-acid variations by a variation-associated database search strategy.

PubMed ID: 24237036

DOI: 10.1021/pr400544j

PubMed ID: 24813853

Title: Understanding carbamoyl phosphate synthetase (CPS1) deficiency by using the recombinantly purified human enzyme: effects of CPS1 mutations that concentrate in a central domain of unknown function.

PubMed ID: 24813853

DOI: 10.1016/j.ymgme.2014.04.003

PubMed ID: 26440671

Title: Carbamoylphosphate synthetase 1 (CPS1) deficiency: clinical, biochemical, and molecular characterization in Malaysian patients.

PubMed ID: 26440671

DOI: 10.1007/s00431-015-2644-z

PubMed ID: 27535533

Title: Analysis of protein-coding genetic variation in 60,706 humans.

PubMed ID: 27535533

DOI: 10.1038/nature19057

Sequence Information:

  • Length: 1500
  • Mass: 164939
  • Checksum: E53A22D77563961D
  • Sequence:
    • MTRILTAFKV VRTLKTGFGF TNVTAHQKWK FSRPGIRLLS VKAQTAHIVL EDGTKMKGYS 
FGHPSSVAGE VVFNTGLGGY PEAITDPAYK GQILTMANPI IGNGGAPDTT ALDELGLSKY 
LESNGIKVSG LLVLDYSKDY NHWLATKSLG QWLQEEKVPA IYGVDTRMLT KIIRDKGTML 
GKIEFEGQPV DFVDPNKQNL IAEVSTKDVK VYGKGNPTKV VAVDCGIKNN VIRLLVKRGA 
EVHLVPWNHD FTKMEYDGIL IAGGPGNPAL AEPLIQNVRK ILESDRKEPL FGISTGNLIT 
GLAAGAKTYK MSMANRGQNQ PVLNITNKQA FITAQNHGYA LDNTLPAGWK PLFVNVNDQT 
NEGIMHESKP FFAVQFHPEV TPGPIDTEYL FDSFFSLIKK GKATTITSVL PKPALVASRV 
EVSKVLILGS GGLSIGQAGE FDYSGSQAVK AMKEENVKTV LMNPNIASVQ TNEVGLKQAD 
TVYFLPITPQ FVTEVIKAEQ PDGLILGMGG QTALNCGVEL FKRGVLKEYG VKVLGTSVES 
IMATEDRQLF SDKLNEINEK IAPSFAVESI EDALKAADTI GYPVMIRSAY ALGGLGSGIC 
PNRETLMDLS TKAFAMTNQI LVEKSVTGWK EIEYEVVRDA DDNCVTVCNM ENVDAMGVHT 
GDSVVVAPAQ TLSNAEFQML RRTSINVVRH LGIVGECNIQ FALHPTSMEY CIIEVNARLS 
RSSALASKAT GYPLAFIAAK IALGIPLPEI KNVVSGKTSA CFEPSLDYMV TKIPRWDLDR 
FHGTSSRIGS SMKSVGEVMA IGRTFEESFQ KALRMCHPSI EGFTPRLPMN KEWPSNLDLR 
KELSEPSSTR IYAIAKAIDD NMSLDEIEKL TYIDKWFLYK MRDILNMEKT LKGLNSESMT 
EETLKRAKEI GFSDKQISKC LGLTEAQTRE LRLKKNIHPW VKQIDTLAAE YPSVTNYLYV 
TYNGQEHDVN FDDHGMMVLG CGPYHIGSSV EFDWCAVSSI RTLRQLGKKT VVVNCNPETV 
STDFDECDKL YFEELSLERI LDIYHQEACG GCIISVGGQI PNNLAVPLYK NGVKIMGTSP 
LQIDRAEDRS IFSAVLDELK VAQAPWKAVN TLNEALEFAK SVDYPCLLRP SYVLSGSAMN 
VVFSEDEMKK FLEEATRVSQ EHPVVLTKFV EGAREVEMDA VGKDGRVISH AISEHVEDAG 
VHSGDATLML PTQTISQGAI EKVKDATRKI AKAFAISGPF NVQFLVKGND VLVIECNLRA 
SRSFPFVSKT LGVDFIDVAT KVMIGENVDE KHLPTLDHPI IPADYVAIKA PMFSWPRLRD 
ADPILRCEMA STGEVACFGE GIHTAFLKAM LSTGFKIPQK GILIGIQQSF RPRFLGVAEQ 
LHNEGFKLFA TEATSDWLNA NNVPATPVAW PSQEGQNPSL SSIRKLIRDG SIDLVINLPN 
NNTKFVHDNY VIRRTAVDSG IPLLTNFQVT KLFAEAVQKS RKVDSKSLFH YRQYSAGKAA

Genular Protein ID: 4106805453

Symbol: Q6PEK7_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q6PEK7

Database IDs:

AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 DNASU 1 EMBL 2 Genevisible 1 GenomeRNAi 1 KEGG 1 MaxQB 1 NCBI Taxonomy 1 OrthoDB 1 PeptideAtlas 1 RefSeq 2

Citations:

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

Sequence Information:

  • Length: 70
  • Mass: 7879
  • Checksum: FB78BD82E1908187
  • Sequence:
    • MTRILTAFKV VRTLKTGFGF TNVTAHQKWK FSRPGIRLLS VKAQTAHIVL EDRDADTPAP 
LLNQPEPHVI

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.