Gene Gene information from NCBI Gene database.
Entrez ID 155185
Gene name Archaelysin family metallopeptidase 1
Gene symbol AMZ1
Synonyms (NCBI Gene)
-
Chromosome 7
Chromosome location 7p22.3
miRNA miRNA information provided by mirtarbase database.
237
miRTarBase ID miRNA Experiments Reference
MIRT023825 hsa-miR-1-3p Microarray 18668037
MIRT045029 hsa-miR-186-5p CLASH 23622248
MIRT710951 hsa-miR-1470 HITS-CLIP 19536157
MIRT710950 hsa-miR-4667-3p HITS-CLIP 19536157
MIRT710949 hsa-miR-5193 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
GO ID Ontology Definition Evidence Reference
GO:0005575 Component Cellular_component ND
GO:0006508 Process Proteolysis IEA
GO:0008233 Function Peptidase activity IEA
GO:0008237 Function Metallopeptidase activity IEA
GO:0016787 Function Hydrolase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615168 22231 ENSG00000174945
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q400G9
Protein name Archaemetzincin-1 (EC 3.4.-.-) (Archeobacterial metalloproteinase-like protein 1)
Protein function Probable zinc metalloprotease.
Family and domains
Sequence
MLQCRPAQEFSFGPRALKDALVSTDAALQQLYVSAFSPAERLFLAEAYNPQRTLFCTLLI
RTGFDWLLSRPEAPEDFQTFHASLQHRKPRLARKHIYLQPIDLSEEPVGSSLLHQLCSCT
EAFFLGLRVKCLPSVAAASIRCSSRPSRDSDRLQLHTDGILSFLKNNKPGDALCVLGLTL
SDLYPHEAWSFTFSKFLPGHEVGVCSFARFSGEFPKSGPSAPDLALVEAAADGPEAPLQD
RGWALCFSALGMVQCCKVTCHELCHLLGLGNCRWLRCLMQGALSLDEALRRPLDLCPICL
RKLQHVLGFRLIERYQRLYTWTQAVVGTWPSQEAGEPSVWEDTPPASADSGMCCESDSEP
GTSVSEPLTPDAGSHTFASGPEEGLSYLAASEAPLPPGGPAEAIKEHERWLAMCIQALQR
EVAEEDLVQVDRAVDALDRWEMFTGQLPATRQDPPSSRDSVGLRKVLGDKFSSLRRKLSA
RKLARAESAPRPWDGEES
Sequence length 498
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Chronic Obstructive Airway Disease Chronic Obstructive Pulmonary Disease GWASCAT_DG 30804561
★☆☆☆☆
Found in Text Mining only
Congestive heart failure Congestive Heart Failure BEFREE 30519544
★☆☆☆☆
Found in Text Mining only
Heart failure Heart Failure BEFREE 30519544
★☆☆☆☆
Found in Text Mining only
Inflammatory Bowel Diseases Inflammatory Bowel Disease GWASCAT_DG 28067908
★☆☆☆☆
Found in Text Mining only
Turner Syndrome Turner syndrome Pubtator 30530863 Associate
★☆☆☆☆
Found in Text Mining only
Ulcerative Colitis Ulcerative colitis GWASCAT_DG 21297633, 23128233, 28067908
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis Ulcerative colitis GWASDB_DG 21297633, 23128233
★★☆☆☆
Found in Text Mining + Unknown/Other Associations