Gene Gene information from NCBI Gene database.
Entrez ID 23173
Gene name Methionyl aminopeptidase 1
Gene symbol METAP1
Synonyms (NCBI Gene)
MAP1AMetAP1A
Chromosome 4
Chromosome location 4q23
miRNA miRNA information provided by mirtarbase database.
452
miRTarBase ID miRNA Experiments Reference
MIRT025186 hsa-miR-181a-5p Microarray 17612493
MIRT025578 hsa-miR-34a-5p Sequencing 20371350
MIRT1143485 hsa-miR-106a CLIP-seq
MIRT1143486 hsa-miR-106b CLIP-seq
MIRT1143487 hsa-miR-1270 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0004177 Function Aminopeptidase activity IDA 17114291
GO:0004177 Function Aminopeptidase activity IEA
GO:0004177 Function Aminopeptidase activity TAS 16386852
GO:0004239 Function Initiator methionyl aminopeptidase activity IEA
GO:0005515 Function Protein binding IPI 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610151 15789 ENSG00000164024
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P53582
Protein name Methionine aminopeptidase 1 (MAP 1) (MetAP 1) (EC 3.4.11.18) (Peptidase M 1)
Protein function Cotranslationally removes the N-terminal methionine from nascent proteins. The N-terminal methionine is often cleaved when the second residue in the primary sequence is small and uncharged (Met-Ala-, Cys, Gly, Pro, Ser, Thr, or Val). Required fo
PDB 2B3H , 2B3K , 2B3L , 2G6P , 2GZ5 , 2NQ6 , 2NQ7 , 4FLI , 4FLJ , 4FLK , 4FLL , 4HXX , 4IKR , 4IKS , 4IKT , 4IKU , 4IU6 , 4U1B , 4U69 , 4U6C , 4U6E , 4U6J , 4U6W , 4U6Z , 4U70 , 4U71 , 4U73 , 4U75 , 4U76 , 5YKP , 5YR4 , 5YR5 , 5YR6 , 5YR7 , 6LZB , 6LZC , 8P2K , 9F1C , 9F1D , 9FQ0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15801 zf-C6H2 9 54 zf-MYND-like zinc finger, mRNA-binding Domain
PF00557 Peptidase_M24 137 365 Metallopeptidase family M24 Domain
Sequence
Sequence length 386
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Inactivation, recovery and regulation of the phototransduction cascade
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Intellectual disability Likely pathogenic rs779530889 RCV001849738
★★★★☆
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
INSOMNIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID 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
Attention Deficit Disorder with Hyperactivity Attention deficit hyperactivity disorder Pubtator 31768057, 34573389 Associate
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 31768057 Associate
★☆☆☆☆
Found in Text Mining only
Body Weight Body weight Pubtator 34573389 Associate
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Intellectual developmental disorder Pubtator 32764695 Associate
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukemia Leukemia Pubtator 17114291 Associate
★☆☆☆☆
Found in Text Mining only
Lewy Body Disease Lewy Body Disease BEFREE 21412173
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of pancreas Pancreatic cancer BEFREE 27109098, 31114135
★☆☆☆☆
Found in Text Mining only
Mental disorders Mental Disorders BEFREE 31768057
★☆☆☆☆
Found in Text Mining only
Myocardial Infarction Myocardial Infarction BEFREE 28216633
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 15949439
★☆☆☆☆
Found in Text Mining only