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mutLBSgeneDB |
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| Gene summary for NCF1 |
 Gene summary |
| Basic gene Info. | Gene symbol | NCF1 |
| Gene name | neutrophil cytosolic factor 1 | |
| Synonyms | NCF1A|NOXO2|SH3PXD1A|p47phox | |
| Cytomap | UCSC genome browser: 7q11.23 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000265.5, | |
| Description | 47 kDa autosomal chronic granulomatous disease protein47 kDa neutrophil oxidase factorNADPH oxidase organizer 2NCF-1NCF-47KSH3 and PX domain-containing protein 1Aneutrophil NADPH oxidase factor 1neutrophil cytosol factor 1neutrophil cytosolic fact | |
| Modification date | 20141221 | |
| dbXrefs | MIM : 608512 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000158517 | ||
| Vega : OTTHUMG00000149965 | ||
| Protein | UniProt: P14598 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_NCF1 | |
| BioGPS: 653361 | ||
| Pathway | NCI Pathway Interaction Database: NCF1 | |
| KEGG: NCF1 | ||
| REACTOME: NCF1 | ||
| Pathway Commons: NCF1 | ||
| Context | iHOP: NCF1 | |
| ligand binding site mutation search in PubMed: NCF1 | ||
| UCL Cancer Institute: NCF1 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0006612 | protein targeting to membrane | 12356722 |
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| Ligand binding site mutations for NCF1 |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | L75 | L75F | GBM | 1 | H51 | H51Q | LUAD | 1 | F209 | E211K | SKCM | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for NCF1 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | L75 | L75F | -1.1765236 | F209 | E211K | -0.76303217 | H51 | H51Q | -0.69367295 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for NCF1 from PDB |
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| Differential gene expression and gene-gene network for NCF1 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for NCF1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0020538 | Hypertension | 7 | Biomarker |
| umls:C0003873 | Arthritis, Rheumatoid | 4 | Biomarker |
| umls:C0011853 | Diabetes Mellitus, Experimental | 2 | Biomarker |
| umls:C1856251 | Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I | 1 | Biomarker, GeneticVariation |
| umls:C0162871 | Aortic Aneurysm, Abdominal | 1 | Biomarker |
| umls:C0007621 | Cell Transformation, Neoplastic | 1 | Biomarker |
| umls:C0020443 | Hypercholesterolemia | 1 | Biomarker |
| umls:C0007766 | Intracranial Aneurysm | 1 | Biomarker |
| umls:C0022661 | Kidney Failure, Chronic | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for NCF1 |
| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of NCF1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (GLN,PRO,PRO,SER,ASN,PRO,PRO,PRO,ARG,PRO,PRO) | 1ov3 | A | F209 | III | Peptide ligand (GLN,PRO,PRO,SER,ASN,PRO,PRO,PRO,ARG,PRO,PRO) | 1ov3 | B | F209 | III | Peptide ligand (GLY,PRO,LEU,GLY,SER,LYS,GLN,PRO,PRO,SER,ASN,PRO,PRO,PRO,ARG,PRO,PRO,ALA,GLU,ALA,ARG,LYS,LYS,PRO,SER) | 1wlp | B | F209 | SO4 | SULFATE | 1o7k | A | H51 L75 | SO4 | SULFATE | 1o7k | B | H51 L75 | SO4 | SULFATE | 1o7k | C | H51 L75 |
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| Conservation information for LBS of NCF1 |
| Multiple alignments for P14598 in multiple species |
| LBS | AA sequence | # species | Species | D243 | TAVEGDEVSLL | 1 | Homo sapiens | D243 | AAVEEDEMSLS | 1 | Mus musculus | D243 | TAVLEDEISLE | 1 | Bos taurus | D261 | IHKLLDGWWVI | 2 | Homo sapiens, Bos taurus | D261 | IHKLLDGWWVV | 1 | Mus musculus | E174 | KTSGSEMALST | 1 | Homo sapiens | E174 | KSSGTEMTVAT | 1 | Mus musculus | E174 | KGSSSQMALAT | 1 | Bos taurus | E187 | VVEVVEKSESG | 1 | Homo sapiens | E187 | VVDVVEKSESG | 1 | Mus musculus | E187 | VVDVVEKNESG | 1 | Bos taurus | E241 | AYTAVEGDEVS | 1 | Homo sapiens | E241 | AYAAVEEDEMS | 1 | Mus musculus | E241 | AYTAVLEDEIS | 1 | Bos taurus | E244 | AVEGDEVSLLE | 1 | Homo sapiens | E244 | AVEEDEMSLSE | 1 | Mus musculus | E244 | AVLEDEISLEE | 1 | Bos taurus | F195 | ESGWWFCQMKT | 2 | Mus musculus, Bos taurus | F195 | ESGWWFCQMKA | 1 | Homo sapiens | F209 | WVPASYLEPLD | 2 | Mus musculus, Bos taurus | F209 | WIPASFLEPLD | 1 | Homo sapiens | F44 | VVYRRFTEIYE | 2 | Homo sapiens, Bos taurus | F44 | VVYRKFTEIYE | 1 | Mus musculus | G192 | EKSESGWWFCQ | 2 | Homo sapiens, Mus musculus | G192 | EKNESGWWFCQ | 1 | Bos taurus | H51 | EIYEFHKTLKE | 1 | Homo sapiens | H51 | EIYEFHKMLKE | 1 | Mus musculus | H51 | EIYEFHKILKE | 1 | Bos taurus | H74 | NRIIPHLPAPK | 1 | Homo sapiens | H74 | NRVIPHLPAPR | 1 | Mus musculus | H74 | NRIIPHLPAPR | 1 | Bos taurus | K55 | FHKTLKEMFPI | 1 | Homo sapiens | K55 | FHKMLKEMFPI | 1 | Mus musculus | K55 | FHKILKEMFPI | 1 | Bos taurus | L75 | RIIPHLPAPKW | 1 | Homo sapiens | L75 | RVIPHLPAPRW | 1 | Mus musculus | L75 | RIIPHLPAPRW | 1 | Bos taurus | M278 | GYFPSMYLQKA | 2 | Mus musculus, Bos taurus | M278 | GYFPSMYLQKS | 1 | Homo sapiens | P206 | KRGWVPASYLE | 2 | Mus musculus, Bos taurus | P206 | KRGWIPASFLE | 1 | Homo sapiens | P276 | VTGYFPSMYLQ | 2 | Homo sapiens, Bos taurus | P276 | ITGYFPSMYLQ | 1 | Mus musculus | R43 | KVVYRRFTEIY | 2 | Homo sapiens, Bos taurus | R43 | KVVYRKFTEIY | 1 | Mus musculus | R70 | INPENRIIPHL | 2 | Homo sapiens, Bos taurus | R70 | IHTENRVIPHL | 1 | Mus musculus | R90 | RAAENRQGTLT | 1 | Homo sapiens | R90 | RAAESRQGTLT | 1 | Mus musculus | R90 | RVAESRQGTLT | 1 | Bos taurus | S171 | NYEKTSGSEMA | 1 | Homo sapiens | S171 | DYEKSSGTEMT | 1 | Mus musculus | S171 | DYEKGSSSQMA | 1 | Bos taurus | S189 | EVVEKSESGWW | 1 | Homo sapiens | S189 | DVVEKSESGWW | 1 | Mus musculus | S189 | DVVEKNESGWW | 1 | Bos taurus | S191 | VEKSESGWWFC | 2 | Homo sapiens, Mus musculus | S191 | VEKNESGWWFC | 1 | Bos taurus | S208 | GWVPASYLEPL | 2 | Mus musculus, Bos taurus | S208 | GWIPASFLEPL | 1 | Homo sapiens | T45 | VYRRFTEIYEF | 2 | Homo sapiens, Bos taurus | T45 | VYRKFTEIYEF | 1 | Mus musculus | W193 | KSESGWWFCQM | 2 | Homo sapiens, Mus musculus | W193 | KNESGWWFCQM | 1 | Bos taurus | W204 | KTKRGWVPASY | 2 | Mus musculus, Bos taurus | W204 | KAKRGWIPASF | 1 | Homo sapiens | W263 | KLLDGWWVIRK | 2 | Homo sapiens, Bos taurus | W263 | KLLDGWWVVRK | 1 | Mus musculus | Y167 | RAIANYEKTSG | 1 | Homo sapiens | Y167 | RAIADYEKSSG | 1 | Mus musculus | Y167 | RAIADYEKGSS | 1 | Bos taurus | Y274 | DDVTGYFPSMY | 1 | Homo sapiens | Y274 | GDITGYFPSMY | 1 | Mus musculus | Y274 | EDVTGYFPSMY | 1 | Bos taurus | Y279 | YFPSMYLQKAG | 2 | Mus musculus, Bos taurus | Y279 | YFPSMYLQKSG | 1 | Homo sapiens |
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