PAM16

PAM16
Identifiers
Aliases	PAM16, MAGMAS, TIM16, TIMM16, CGI-136, SMDMDM, presequence translocase-associated motor 16 homolog (S. cerevisiae), presequence translocase associated motor 16 homolog, presequence translocase associated motor 16
External IDs	OMIM: 614336 MGI: 1913699 HomoloGene: 41100 GeneCards: PAM16
Gene location (Human)
Chr.	Chromosome 16 (human)
End	4,355,607 bp
Gene location (Mouse)
Chr.	Chromosome 16 (mouse)
End	4,442,852 bp
RNA expression pattern
	Top expressed in
	gastrocnemius muscle; ; right lobe of liver; ; left ventricle; ; putamen; ; nucleus accumbens; ; right adrenal gland; ; skeletal muscle tissue; ; caudate nucleus; ; hippocampus proper; ; hypothalamus;
	Top expressed in
	spermatid; ; spermatocyte; ; quadriceps femoris muscle; ; lens; ; proximal tubule; ; secondary oocyte; ; kidney; ; mesencephalon; ; neural tube; ; uterus;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding;
Cellular component	mitochondrial inner membrane; extrinsic component of mitochondrial inner membrane; mitochondrial matrix; PAM complex, Tim23 associated import motor; TIM23 mitochondrial import inner membrane translocase complex; membrane; mitochondrion; protein-containing complex;
Biological process	negative regulation of ATP-dependent activity; protein transport; protein import into mitochondrial matrix; ossification; negative regulation of apoptotic process; negative regulation of release of cytochrome c from mitochondria; negative regulation of apoptotic DNA fragmentation;
	Sources:Amigo / QuickGO
Orthologs
	51025
	66449
	ENSG00000217930; ENSG00000282228
	ENSMUSG00000014301
	Q9Y3D7
	Q9CQV1
	NM_016069
	NM_025571
	NP_057153
	NP_079847
	Wikidata
View/Edit Human	View/Edit Mouse

Mitochondrial import inner membrane translocase subunit TIM16 also known as presequence translocated-associated motor subunit PAM16, mitochondria-associated granulocyte macrophage CSF-signaling molecule, or presequence translocated-associated motor subunit PAM16 is a protein that in humans is encoded by the PAM16 gene.^[5]^[6]^[7]

Structure edit

The PAM16 gene is located on the p arm of chromosome 16 at position 13.3 and it spans 11,150 base pairs.^[5] The PAM16 gene produces a 15.1 kDa protein composed of 137 amino acids.^[8]^[9] The structure has been found to contain a 21-residue mitochondrial targeting leader sequence.^[10]

Function edit

The PAM16 gene encodes for a mitochondrial protein with multiple functions. It is responsible for the regulation of ATP-dependent protein translocation into the mitochondrial matrix, inhibition of DNAJC19 stimulation of HSPA9/Mortalin ATPase activity, and granulocyte-macrophage colony-stimulating factor (GM-CSF) signaling. Furthermore, PAM16 plays a role in the import of nuclear-encoded mitochondrial proteins into the mitochondrial matrix and may be important in reactive oxygen species (ROS) homeostasis.^[7]^[6]^[5]

Clinical Significance edit

Mutations in the PAM16 gene has been shown to cause mitochondrial deficiencies and associated disorders. It is mainly associated with Megarbane-Dagher-Melike type spondylometaphyseal dysplasia, which is an autosomal recessive disease characterized by pre- and postnatal short stature, developmental delay, dysmorphic facial appearance, narrow chest, prominent abdomen, platyspondyly, short limbs, and other abnormalities of the skeleton.^[6] ^[7]^[5]

Interactions edit

PAM16 has been known to interact with PAM18, DNAJC19, TIMM17A, FEZ1, TRIM25, MARC1, and other proteins.^[11]^[6]^[7]

References edit

^ ^a ^b ^c ENSG00000282228 GRCh38: Ensembl release 89: ENSG00000217930, ENSG00000282228 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000014301 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b ^c ^d "Entrez Gene: Presequence translocase-associated motor 16 homolog (S. cerevisiae)". This article incorporates text from this source, which is in the public domain.
^ ^a ^b ^c ^d "PAM16 - Mitochondrial import inner membrane translocase subunit TIM16 - Homo sapiens (Human) - PAM16 gene & protein". Retrieved 2018-08-07. This article incorporates text available under the CC BY 4.0 license.
^ ^a ^b ^c ^d "UniProt: the universal protein knowledgebase". Nucleic Acids Research. 45 (D1): D158–D169. January 2017. doi:10.1093/nar/gkw1099. PMC 5210571. PMID 27899622.
^ Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, Deng N, Kim AK, Choi JH, Zelaya I, Liem D, Meyer D, Odeberg J, Fang C, Lu HJ, Xu T, Weiss J, Duan H, Uhlen M, Yates JR, Apweiler R, Ge J, Hermjakob H, Ping P (October 2013). "Integration of cardiac proteome biology and medicine by a specialized knowledgebase". Circulation Research. 113 (9): 1043–53. doi:10.1161/CIRCRESAHA.113.301151. PMC 4076475. PMID 23965338.
^ "Mitochondrial import inner membrane translocase subunit TIM16". Cardiac Organellar Protein Atlas Knowledgebase (COPaKB). Archived from the original on 2018-08-21. Retrieved 2018-08-21.
^ Jubinsky PT, Messer A, Bender J, Morris RE, Ciraolo GM, Witte DP, Hawley RG, Short MK (December 2001). "Identification and characterization of Magmas, a novel mitochondria-associated protein involved in granulocyte-macrophage colony-stimulating factor signal transduction". Experimental Hematology. 29 (12): 1392–402. doi:10.1016/s0301-472x(01)00749-4. PMID 11750097.
^ Mick DU, Dennerlein S, Wiese H, Reinhold R, Pacheu-Grau D, Lorenzi I, Sasarman F, Weraarpachai W, Shoubridge EA, Warscheid B, Rehling P (December 2012). "MITRAC links mitochondrial protein translocation to respiratory-chain assembly and translational regulation". Cell. 151 (7): 1528–41. doi:10.1016/j.cell.2012.11.053. hdl:11858/00-001M-0000-000E-DDDF-4. PMID 23260140.