• Gene id: 254042

Gene Summary

• Gene Symbol: METAP1D   Gene   UCSC   Ensembl
• Aliases: MAP 1D, MAP1D, MetAP 1D, Metap1l
• Gene name: methionyl aminopeptidase type 1D, mitochondrial
• Alternate names: methionine aminopeptidase 1D, mitochondrial, CDS of metAP-3 within PCR fragment, metAP 1D, peptidase M 1D,
• Gene location: 2q31.1 (171999952: 172082429)     Exons: 12     NC_000002.12
• Gene summary(Entrez): 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
• OMIM: 610267

Protein Summary

• Protein general information: Q6UB28  
  • Name: Methionine aminopeptidase 1D, mitochondrial (MAP 1D) (MetAP 1D) (EC 3.4.11.18) (Methionyl aminopeptidase type 1D, mitochondrial) (Peptidase M 1D)
  • Length: 335  
  • Mass: 37088
  • Tissue specificity: Overexpressed in colon cancer cell lines and colon tumors as compared to normal tissues (at protein level). {ECO
• Sequence:

  MAAPSGVHLLVRRGSHRIFSSPLNHIYLHKQSSSQQRRNFFFRRQRDISHSIVLPAAVSSAHPVPKHIKKPDYVT
  TGIVPDWGDSIEVKNEDQIQGLHQACQLARHVLLLAGKSLKVDMTTEEIDALVHREIISHNAYPSPLGYGGFPKS
  VCTSVNNVLCHGIPDSRPLQDGDIINIDVTVYYNGYHGDTSETFLVGNVDECGKKLVEVARRCRDEAIAACRAGA
  PFSVIGNTISHITHQNGFQVCPHFVGHGIGSYFHGHPEIWHHANDSDLPMEEGMAFTIEPIITEGSPEFKVLEDA
  WTVVSLDNQRSAQFEHTVLITSRGAQILTKLPHEA

• Structural information:
  • Interpro: IPR036005  IPR000994  IPR001714  IPR002467  
  • Prosite: PS00680
  • CDD: cd01086
  • STRING: ENSP00000315152
• Other Databases: GeneCards:  METAP1D  Malacards:  METAP1D

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031365	N-terminal protein amino acid modification	TAS	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0018206	peptidyl-methionine modification	TAS	biological process
GO:0004177	aminopeptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008235	metalloexopeptidase activity	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0004177	aminopeptidase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0070006	metalloaminopeptidase activity	IEA	molecular function
GO:0070084	protein initiator methionine removal	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0008235	metalloexopeptidase activity	TAS	molecular function
GO:0004177	aminopeptidase activity	TAS	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq