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{{Infobox_gene}}
{{Infobox_gene}}
'''Mitochondrial import inner membrane translocase subunit TIM16''' also known as '''presequence translocated-associated motor subunit PAM16''' is a [[protein]] that in humans is encoded by the PAM16 [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: Presequence translocase-associated motor 16 homolog (S. cerevisiae) | url = https://www.ncbi.nlm.nih.gov/gene/51025 }}</ref>
'''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]].<ref name="entrez">{{cite web | title = Entrez Gene: Presequence translocase-associated motor 16 homolog (S. cerevisiae) | url = https://www.ncbi.nlm.nih.gov/gene/51025 }}{{PD-notice}}</ref><ref name = "uniprot">
 
{{Cite web|url=https://www.uniprot.org/uniprot/Q9Y3D7|title= PAM16 - Mitochondrial import inner membrane translocase subunit TIM16 - Homo sapiens (Human) - PAM16 gene & protein|access-date=2018-08-07}}{{CC-notice|cc=by4 | url=https://www.uniprot.org/uniprot/Q8WYQ3 | work = UniProt }}
 
</ref><ref name = "uniprot0">
 
{{cite journal | vauthors =  | title = UniProt: the universal protein knowledgebase | journal = Nucleic Acids Research | volume = 45 | issue = D1 | pages = D158-D169 | date = January 2017 | pmid = 27899622 | pmc = 5210571 | doi = 10.1093/nar/gkw1099 }}
 
</ref>
 
== Structure ==
The ''PAM16'' gene is located on the [[Locus (genetics)|p arm]] of [[chromosome 16]] at position 13.3 and it spans 11,150 base pairs.<ref name = entrez /> The ''PAM16'' gene produces a 15.1 kDa protein composed of 137 [[amino acids]].<ref name=COPaKB>
 
{{cite journal | vauthors = 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 | title = Integration of cardiac proteome biology and medicine by a specialized knowledgebase | journal = Circulation Research | volume = 113 | issue = 9 | pages = 1043–53 | date = October 2013 | pmid = 23965338 | pmc = 4076475 | doi = 10.1161/CIRCRESAHA.113.301151 }}
 
</ref><ref name="url_COPaKB">
 
{{cite web | url = https://amino.heartproteome.org/web/protein/I3L0X9 | work = Cardiac Organellar Protein Atlas Knowledgebase (COPaKB) | title = Mitochondrial import inner membrane translocase subunit TIM16 }}
 
</ref> The structure has been found to contain a 21-residue mitochondrial targeting leader sequence.<ref>{{cite journal | vauthors = Jubinsky PT, Messer A, Bender J, Morris RE, Ciraolo GM, Witte DP, Hawley RG, Short MK | title = Identification and characterization of Magmas, a novel mitochondria-associated protein involved in granulocyte-macrophage colony-stimulating factor signal transduction | journal = Experimental Hematology | volume = 29 | issue = 12 | pages = 1392–402 | date = December 2001 | pmid = 11750097 | doi = 10.1016/s0301-472x(01)00749-4 }}</ref>
 
== Function ==
The ''PAM16'' gene encodes for a mitochondrial [[protein]] with mutltiple functions. It is responsible for the regulation of [[Adenosine triphosphate|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]].<ref name="uniprot0"/><ref name="uniprot"/><ref name="entrez"/>
 
==Clinical Significance==
Mutations in the ''PAM16'' gene has been shown to cause [[mitochondrial disorder|mitochondrial deficiencies]] and associated disorders. It is mainly associated with [[dysplasia|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 [[Limb (anatomy)|limbs]], and other [[abnormalities]] of the [[skeleton]].<ref name = "uniprot"/>
<ref name = "uniprot0"/><ref name ="entrez"/>
 
== Interactions ==
 
''PAM16'' has been known to interact with [[PAM18]], [[DNAJC19]], [[TIMM17A]], [[FEZ1]], [[TRIM25]], [[MARC1]], and other proteins.<ref name = "hi22">
 
{{cite journal | vauthors = Mick DU, Dennerlein S, Wiese H, Reinhold R, Pacheu-Grau D, Lorenzi I, Sasarman F, Weraarpachai W, Shoubridge EA, Warscheid B, Rehling P | title = MITRAC links mitochondrial protein translocation to respiratory-chain assembly and translational regulation | journal = Cell | volume = 151 | issue = 7 | pages = 1528–41 | date = December 2012 | pmid = 23260140 | doi = 10.1016/j.cell.2012.11.053 }}</ref><ref name = "uniprot" /><ref name="uniprot0"/>


== References ==
== References ==
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== Further reading ==
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
* {{cite journal | vauthors = Tagliati F, Gentilin E, Buratto M, Molè D, degli Uberti EC, Zatelli MC | title = Magmas, a gene newly identified as overexpressed in human and mouse ACTH-secreting pituitary adenomas, protects pituitary cells from apoptotic stimuli | journal = Endocrinology | volume = 151 | issue = 10 | date = Oct 2010 | pmid = 20719856 | doi = 10.1210/en.2010-0441 | pages=4635–42}}
* {{cite journal | vauthors = Tagliati F, Gentilin E, Buratto M, Molè D, degli Uberti EC, Zatelli MC | title = Magmas, a gene newly identified as overexpressed in human and mouse ACTH-secreting pituitary adenomas, protects pituitary cells from apoptotic stimuli | journal = Endocrinology | volume = 151 | issue = 10 | pages = 4635–42 | date = October 2010 | pmid = 20719856 | doi = 10.1210/en.2010-0441 }}
* {{cite journal | vauthors = Sinha D, Joshi N, Chittoor B, Samji P, D'Silva P | title = Role of Magmas in protein transport and human mitochondria biogenesis | journal = Human Molecular Genetics | volume = 19 | issue = 7 | date = Apr 2010 | pmid = 20053669 | doi = 10.1093/hmg/ddq002 | pmc=2838536 | pages=1248–1262}}
* {{cite journal | vauthors = Sinha D, Joshi N, Chittoor B, Samji P, D'Silva P | title = Role of Magmas in protein transport and human mitochondria biogenesis | journal = Human Molecular Genetics | volume = 19 | issue = 7 | pages = 1248–62 | date = April 2010 | pmid = 20053669 | pmc = 2838536 | doi = 10.1093/hmg/ddq002 }}
* {{cite journal | vauthors = Jubinsky PT, Short MK, Mutema G, Morris RE, Ciraolo GM, Li M | title = Magmas expression in neoplastic human prostate | journal = Journal of Molecular Histology | volume = 36 | issue = 1–2 | date = Feb 2005 | pmid = 15704001 | doi = 10.1007/s10735-004-3840-8 | pages=69–75}}
* {{cite journal | vauthors = Jubinsky PT, Short MK, Mutema G, Morris RE, Ciraolo GM, Li M | title = Magmas expression in neoplastic human prostate | journal = Journal of Molecular Histology | volume = 36 | issue = 1-2 | pages = 69–75 | date = February 2005 | pmid = 15704001 | doi = 10.1007/s10735-004-3840-8 }}
* {{cite journal | vauthors = Jubinsky PT, Messer A, Bender J, Morris RE, Ciraolo GM, Witte DP, Hawley RG, Short MK | title = Identification and characterization of Magmas, a novel mitochondria-associated protein involved in granulocyte-macrophage colony-stimulating factor signal transduction | journal = Experimental Hematology | volume = 29 | issue = 12 | date = Dec 2001 | pmid = 11750097 | pages=1392–402 | doi=10.1016/s0301-472x(01)00749-4}}
 
{{refend}}
{{refend}}


 
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Latest revision as of 09:23, 10 January 2019

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SpeciesHumanMouse
Entrez

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UniProt

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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.[1][2][3]

Structure

The PAM16 gene is located on the p arm of chromosome 16 at position 13.3 and it spans 11,150 base pairs.[1] The PAM16 gene produces a 15.1 kDa protein composed of 137 amino acids.[4][5] The structure has been found to contain a 21-residue mitochondrial targeting leader sequence.[6]

Function

The PAM16 gene encodes for a mitochondrial protein with mutltiple 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.[3][2][1]

Clinical Significance

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.[2] [3][1]

Interactions

PAM16 has been known to interact with PAM18, DNAJC19, TIMM17A, FEZ1, TRIM25, MARC1, and other proteins.[7][2][3]

References

  1. ↑ 1.0 1.1 1.2 1.3 "Entrez Gene: Presequence translocase-associated motor 16 homolog (S. cerevisiae)". This article incorporates text from this source, which is in the public domain.
  2. ↑ 2.0 2.1 2.2 2.3 "PAM16 - Mitochondrial import inner membrane translocase subunit TIM16 - Homo sapiens (Human) - PAM16 gene & protein". Retrieved 2018-08-07.File:CC-BY-icon-80x15.png This article incorporates text available under the CC BY 4.0 license.
  3. ↑ 3.0 3.1 3.2 3.3 "UniProt: the universal protein knowledgebase". Nucleic Acids Research. 45 (D1): D158–D169. January 2017. doi:10.1093/nar/gkw1099. PMC 5210571. PMID 27899622.
  4. ↑ 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.
  5. ↑ "Mitochondrial import inner membrane translocase subunit TIM16". Cardiac Organellar Protein Atlas Knowledgebase (COPaKB).
  6. ↑ 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.
  7. ↑ 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. PMID 23260140.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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