METAP1D (methionyl aminopeptidase type 1D, mitochondrial)

Gene

• Entrez ID: 254042
• Gene name: Methionyl aminopeptidase type 1D, mitochondrial
• Gene symbol: METAP1D
• Synonyms (NCBI Gene): MAP 1D, MAP1D, MetAP 1D, Metap1l
• Chromosome: 2
• Chromosome location: 2q31.1
• Summary: The N-terminal methionine excision pathway is an essential process in which the N-terminal methionine is removed from many proteins, thus facilitating subsequent protein modification. In mitochondria, enzymes that catalyze this reaction are celled methion

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1143584	hsa-miR-124	CLIP-seq
MIRT1143585	hsa-miR-4733-3p	CLIP-seq
MIRT1143586	hsa-miR-506	CLIP-seq
MIRT1143587	hsa-miR-548an	CLIP-seq
MIRT2390818	hsa-miR-4433	CLIP-seq
MIRT2390819	hsa-miR-4459	CLIP-seq
MIRT2390820	hsa-miR-4768-3p	CLIP-seq
MIRT2390821	hsa-miR-657	CLIP-seq
MIRT2453977	hsa-miR-1236	CLIP-seq
MIRT2453978	hsa-miR-1246	CLIP-seq
MIRT2453979	hsa-miR-1290	CLIP-seq
MIRT2453980	hsa-miR-132	CLIP-seq
MIRT2453981	hsa-miR-1537	CLIP-seq
MIRT2453982	hsa-miR-212	CLIP-seq
MIRT2453983	hsa-miR-216b	CLIP-seq
MIRT2453984	hsa-miR-3127-5p	CLIP-seq
MIRT2453985	hsa-miR-3145-5p	CLIP-seq
MIRT2453986	hsa-miR-3153	CLIP-seq
MIRT2453987	hsa-miR-3167	CLIP-seq
MIRT2453988	hsa-miR-3658	CLIP-seq
MIRT2453989	hsa-miR-3673	CLIP-seq
MIRT2453990	hsa-miR-3918	CLIP-seq
MIRT2453991	hsa-miR-4311	CLIP-seq
MIRT2453992	hsa-miR-432	CLIP-seq
MIRT2453993	hsa-miR-4666-3p	CLIP-seq
MIRT2453994	hsa-miR-4709-5p	CLIP-seq
MIRT2453995	hsa-miR-4753-3p	CLIP-seq
MIRT2453996	hsa-miR-508-5p	CLIP-seq
MIRT2453997	hsa-miR-876-5p	CLIP-seq
MIRT2453998	hsa-miR-942	CLIP-seq
MIRT2453978	hsa-miR-1246	CLIP-seq
MIRT2453979	hsa-miR-1290	CLIP-seq
MIRT2453985	hsa-miR-3145-5p	CLIP-seq
MIRT2453987	hsa-miR-3167	CLIP-seq
MIRT2453988	hsa-miR-3658	CLIP-seq
MIRT2453993	hsa-miR-4666-3p	CLIP-seq
MIRT2453996	hsa-miR-508-5p	CLIP-seq
MIRT2453997	hsa-miR-876-5p	CLIP-seq
MIRT2453978	hsa-miR-1246	CLIP-seq
MIRT2453979	hsa-miR-1290	CLIP-seq
MIRT2453987	hsa-miR-3167	CLIP-seq
MIRT2453988	hsa-miR-3658	CLIP-seq
MIRT2453993	hsa-miR-4666-3p	CLIP-seq
MIRT2453997	hsa-miR-876-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004177	Function	Aminopeptidase activity	IEA
GO:0004177	Function	Aminopeptidase activity	TAS	14532271
GO:0004239	Function	Initiator methionyl aminopeptidase activity	IEA
GO:0005515	Function	Protein binding	IPI	33961781
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	14532271
GO:0005739	Component	Mitochondrion	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008235	Function	Metalloexopeptidase activity	TAS	14532271
GO:0016787	Function	Hydrolase activity	IEA
GO:0043687	Process	Post-translational protein modification	IDA	14532271
GO:0046872	Function	Metal ion binding	IEA
GO:0070006	Function	Metalloaminopeptidase activity	IBA
GO:0070006	Function	Metalloaminopeptidase activity	IEA

Other IDs

• MIM: 610267
• HGNC: 32583
• e!Ensembl: ENSG00000172878

Protein

• UniProt ID: Q6UB28
• Protein name: Methionine aminopeptidase 1D, mitochondrial (MAP 1D) (MetAP 1D) (EC 3.4.11.18) (Methionyl aminopeptidase type 1D, mitochondrial) (Peptidase M 1D)
• Protein function: 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). Requires deformylation of the
• PDB: 8KHM, 8KHN, 8KHO
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00557	Peptidase_M24	95 → 322	Metallopeptidase family M24	Domain

• Tissue specificity: TISSUE SPECIFICITY: Overexpressed in colon cancer cell lines and colon tumors as compared to normal tissues (at protein level). {ECO:0000269|PubMed:16568094}.
• Sequence:

  MAAPSGVHLLVRRGSHRIFSSPLNHIYLHKQSSSQQRRNFFFRRQRDISHSIVLPAAVSS
  AHPVPKHIKKPDYVTTGIVPDWGDSIEVKNEDQIQGLHQACQLARHVLLLAGKSLKVDMT
  TEEIDALVHREIISHNAYPSPLGYGGFPKSVCTSVNNVLCHGIPDSRPLQDGDIINIDVT
  VYYNGYHGDTSETFLVGNVDECGKKLVEVARRCRDEAIAACRAGAPFSVIGNTISHITHQ
  NGFQVCPHFVGHGIGSYFHGHPEIWHHANDSDLPMEEGMAFTIEPIITEGSPEFKVLEDA
  WTVVSLDNQRSAQFEHTVLITSRGAQILTKLPHEA

• Sequence length: 335

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Colon Carcinoma	Colon Carcinoma	BEFREE	16568094		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	16568094		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23815882	Stimulate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	16568094		★☆☆☆☆ Found in Text Mining only
Optic Atrophy Hereditary Leber	Leber hereditary optic neuropathy	Pubtator	36233195	Associate	★☆☆☆☆ Found in Text Mining only