PAM16 (presequence translocase associated motor 16)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 51025
Gene name Presequence translocase associated motor 16
Gene symbol PAM16
Synonyms (NCBI Gene)
CGI-136MAGMASSMDMDMTIM16TIMM16
Chromosome 16
Chromosome location 16p13.3
Summary 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
miRNA miRNA information provided by mirtarbase database.
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Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
miRTarBase ID miRNA Experiments Reference
MIRT020614 hsa-miR-155-5p Proteomics 18668040
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (22)
GO ID Ontology Definition Evidence Reference
GO:0001405 Component PAM complex, Tim23 associated import motor IEA
GO:0001405 Component PAM complex, Tim23 associated import motor IGI 20053669
GO:0001405 Component PAM complex, Tim23 associated import motor ISS
GO:0001503 Process Ossification IMP 24786642
GO:0005515 Function Protein binding IPI 19564938, 20053669, 23263864, 25416956, 32296183, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
614336 29679 ENSG00000217930
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y3D7
Protein name Mitochondrial import inner membrane translocase subunit TIM16 (Mitochondria-associated granulocyte macrophage CSF-signaling molecule) (Presequence translocated-associated motor subunit PAM16)
Protein function Regulates ATP-dependent protein translocation into the mitochondrial matrix. Inhibits DNAJC19 stimulation of HSPA9/Mortalin ATPase activity.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03656 Pam16 1 → 125 Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:15704001}.
Sequence
Sequence length 125
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal recessive spondylometaphyseal dysplasia, Megarbane type Pathogenic rs786203989, rs1596247721 RCV000167551
RCV000788051
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
PAM16-related disorder Benign; Likely benign rs142976385 RCV003906026
Show/Hide Text Mining Associations (3)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Cardiomyopathy Dilated Associate 20053669
Neoplasms Associate 25165880
Prostatitis Stimulate 20053669