PAM16

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]

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; OMA:PAM16 - orthologs
Gene location (Human) Chr. Chromosome 16 (human)[1] Band 16p13.3 Start 4,331,549 bp[1] End 4,355,607 bp[1]
Gene location (Mouse) Chr. Chromosome 16 (mouse)[2] Band 16 A1|16 2.45 cM Start 4,434,328 bp[2] End 4,442,852 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gastrocnemius muscle right lobe of liver muscle of thigh apex of heart left ventricle putamen nucleus accumbens right adrenal gland right auricle of heart skeletal muscle tissue Top expressed in primary oocyte spermatid spermatocyte epiblast quadriceps femoris muscle lens right kidney proximal tubule secondary oocyte embryo More reference expression data BioGPS 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 Species Human Mouse Entrez 51025 66449 Ensembl ENSG00000217930 ENSG00000282228 ENSMUSG00000014301 UniProt Q9Y3D7 Q9CQV1 RefSeq (mRNA) NM_016069 NM_025571 RefSeq (protein) NP_057153 NP_079847 Location (UCSC) Chr 16: 4.33 – 4.36 Mb Chr 16: 4.43 – 4.44 Mb PubMed search [3] [4]
Wikidata
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Structure

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

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

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

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