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mutLBSgeneDB |
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| Gene summary for APLP1 |
 Gene summary |
| Basic gene Info. | Gene symbol | APLP1 |
| Gene name | amyloid beta (A4) precursor-like protein 1 | |
| Synonyms | APLP | |
| Cytomap | UCSC genome browser: 19q13.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001024807.1, NM_005166.3, | |
| Description | APLP-1amyloid precursor-like protein 1amyloid-like protein 1 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 104775 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000105290 | ||
| HPRD : 00102 | ||
| Vega : OTTHUMG00000180692 | ||
| Protein | UniProt: P51693 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_APLP1 | |
| BioGPS: 333 | ||
| Pathway | NCI Pathway Interaction Database: APLP1 | |
| KEGG: APLP1 | ||
| REACTOME: APLP1 | ||
| Pathway Commons: APLP1 | ||
| Context | iHOP: APLP1 | |
| ligand binding site mutation search in PubMed: APLP1 | ||
| UCL Cancer Institute: APLP1 | ||
| 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:0030818 | negative regulation of cAMP biosynthetic process | 16531006 | GO:0071874 | cellular response to norepinephrine stimulus | 16531006 |
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| Ligand binding site mutations for APLP1 |
| 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 | R429 | R429H | COAD | 2 | K314 | M315I | SKCM | 1 | L383 | A382T | UCEC | 1 | K314 | K314N | UCEC | 1 | R429 | R429H | UCEC | 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 APLP1 |
| 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 | K314 | M315I | 0.000763587 | K314 | K314N | -1.2482947 | R429 | R429H | -1.2447419 | L383 | A382T | -1.1370654 |
| (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 APLP1 from PDB |
| PDB ID | PDB title | PDB structure | 3PMR | Crystal Structure of E2 domain of Human Amyloid Precursor-Like Protein 1 |  |
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| Differential gene expression and gene-gene network for APLP1 |
| 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 APLP1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for APLP1 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| 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 APLP1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | SCR | SUCROSE OCTASULFATE | 3q7g | A | K314 | SCR | SUCROSE OCTASULFATE | 3q7g | B | K314 | IDS | 2-O-SULFO-ALPHA-L-IDOPYRANURONIC ACID | 3qmk | A | K314 | SGN | N,O6-DISULFO-GLUCOSAMINE | 3qmk | B | K314 | UAP | 1,4-DIDEOXY-5-DEHYDRO-O2-SULFO-GLUCURONIC ACID | 4rda | A | K314 | SGN | N,O6-DISULFO-GLUCOSAMINE | 4rda | B | K314 | SCR | SUCROSE OCTASULFATE | 3q7g | A | L383 R429 | SCR | SUCROSE OCTASULFATE | 3q7g | B | R429 | IDS | 2-O-SULFO-ALPHA-L-IDOPYRANURONIC ACID | 3qmk | A | R429 | SGN | N,O6-DISULFO-GLUCOSAMINE | 3qmk | A | R429 | SO4 | SULFATE | 3qmk | B | R429 | SGN | N,O6-DISULFO-GLUCOSAMINE | 4rda | A | R429 | IDS | 2-O-SULFO-ALPHA-L-IDOPYRANURONIC ACID | 4rda | A | R429 | SGN | N,O6-DISULFO-GLUCOSAMINE | 4rda | B | R429 | IDS | 2-O-SULFO-ALPHA-L-IDOPYRANURONIC ACID | 4rda | B | R429 |
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| Conservation information for LBS of APLP1 |
| Multiple alignments for P51693 in multiple species |
| LBS | AA sequence | # species | Species |
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