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mutLBSgeneDB |
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| Gene summary for AHCYL1 |
 Gene summary |
| Basic gene Info. | Gene symbol | AHCYL1 |
| Gene name | adenosylhomocysteinase-like 1 | |
| Synonyms | DCAL|IRBIT|PPP1R78|PRO0233|XPVKONA | |
| Cytomap | UCSC genome browser: 1p13.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001242673.1, NM_001242674.1,NM_001242675.1,NM_001242676.1,NM_006621.5, | |
| Description | DC-expressed AHCY-like moleculeS-adenosyl homocysteine hydrolase homologS-adenosyl-L-homocysteine hydrolase 2S-adenosylhomocysteine hydrolase-like protein 1adoHcyase 2dendritic cell expressed AHCY-like proteininositol 1,4,5-trisphosphate receptor-bi | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 607826 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000168710 | ||
| HPRD : 07613 | ||
| Vega : OTTHUMG00000011652 | ||
| Protein | UniProt: O43865 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_AHCYL1 | |
| BioGPS: 10768 | ||
| Pathway | NCI Pathway Interaction Database: AHCYL1 | |
| KEGG: AHCYL1 | ||
| REACTOME: AHCYL1 | ||
| Pathway Commons: AHCYL1 | ||
| Context | iHOP: AHCYL1 | |
| ligand binding site mutation search in PubMed: AHCYL1 | ||
| UCL Cancer Institute: AHCYL1 | ||
| 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 |
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| Ligand binding site mutations for AHCYL1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | H399 | S400P | STAD | 1 | C292 | R294Q | 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 AHCYL1 |
| 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 | H399 | S400P | 0.033208971 | C292 | R294Q | -0.71976929 |
| (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 AHCYL1 from PDB |
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| Differential gene expression and gene-gene network for AHCYL1 |
| 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 AHCYL1 |
| 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 AHCYL1 |
| 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 AHCYL1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NAD | NAD ZWITTERION | 3mtg | A | C292 H399 | NAD | NAD ZWITTERION | 3mtg | B | C292 H399 |
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| Conservation information for LBS of AHCYL1 |
| Multiple alignments for O43865 in multiple species |
| LBS | AA sequence | # species | Species | C292 | FDNLYCCRESI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C346 | EIDPICALQAC | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C373 | DVVITCTGNKN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D343 | YITEIDPICAL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E321 | VCGYGEVGKGC | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E341 | IVYITEIDPIC | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G318 | QVVVCGYGEVG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G320 | VVCGYGEVGKG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G375 | VITCTGNKNVV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G398 | IVCNMGHSNTE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H399 | VCNMGHSNTEI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I342 | VYITEIDPICA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K524 | KNGPFKPNYYR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L442 | LAEGRLLNLSC | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M397 | CIVCNMGHSNT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N376 | ITCTGNKNVVT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q511 | ELTDDQAKYLG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T340 | AIVYITEIDPI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T374 | VVITCTGNKNV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V256 | IVEESVTGVHR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V322 | CGYGEVGKGCC | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V379 | TGNKNVVTREH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y528 | FKPNYYRY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
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