• Gene id: 51025

Gene Summary

• Gene Symbol: PAM16   Gene   UCSC   Ensembl
• Aliases: CGI-136, MAGMAS, SMDMDM, TIM16, TIMM16
• Gene name: presequence translocase associated motor 16
• Alternate names: mitochondrial import inner membrane translocase subunit TIM16, magmas-like protein, mitochondria associated protein involved in granulocyte macrophage colony stimulating factor signal transduction, mitochondria-associated granulocyte macrophage CSF-signaling,
• Gene location: 16p13.3 (4351320: 4340250)     Exons: 5     NC_000016.10
• Gene summary(Entrez): This gene encodes a mitochondrial protein involved in granulocyte-macrophage colony-stimulating factor (GM-CSF) signaling. This protein also plays a role in the import of nuclear-encoded mitochondrial proteins into the mitochondrial matrix and may be impo
• OMIM: 602663

Protein Summary

• Protein general information: Q9Y3D7  
  • Name: Mitochondrial import inner membrane translocase subunit TIM16 (Mitochondria associated granulocyte macrophage CSF signaling molecule) (Presequence translocated associated motor subunit PAM16)
  • Length: 125  
  • Mass: 13825
  • Tissue specificity: Ubiquitously expressed. {ECO
• Sequence:

  MAKYLAQIIVMGVQVVGRAFARALRQEFAASRAAADARGRAGHRSAAASNLSGLSLQEAQQILNVSKLSPEEVQK
  NYEHLFKVNDKSVGGSFYLQSKVVRAKERLDEELKIQAQEDREKGQMPHT

• Structural information:
  • Interpro: IPR036869  IPR005341  
  • STRING: ENSP00000315693
• Other Databases: GeneCards:  PAM16  Malacards:  PAM16

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005744	TIM23 mitochondrial import inner membrane translocase complex	IBA	cellular component
GO:0030150	protein import into mitochondrial matrix	IBA	biological process
GO:0001405	PAM complex, Tim23 associated import motor	ISS	cellular component
GO:0001503	ossification	IMP	biological process
GO:0005744	TIM23 mitochondrial import inner membrane translocase complex	IEA	cellular component
GO:0030150	protein import into mitochondrial matrix	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0090201	negative regulation of release of cytochrome c from mitochondria	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:1902511	negative regulation of apoptotic DNA fragmentation	IEA	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005759	mitochondrial matrix	IDA	cellular component
GO:0031314	extrinsic component of mitochondrial inner membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001405	PAM complex, Tim23 associated import motor	IGI	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0032780	negative regulation of ATPase activity	IDA	biological process
GO:0032780	negative regulation of ATPase activity	IDA	biological process
GO:0030150	protein import into mitochondrial matrix	IGI	biological process

Diseases

Associated diseases	References
Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type	KEGG:H01830
Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type	KEGG:H01830
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq