PAM16

Protein identityUniProt · HPA

UniProt accession

Q9Y3D7

Gene

PAM16

Ensembl

ENSG00000217930

Chromosome

16

Canonical length

125 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Microtubules,Mitochondria

OverviewNCBI Gene

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 important in reactive oxygen species (ROS) homeostasis. Mutations in this gene cause Megarbane-Dagher-Melike type spondylometaphyseal dysplasia, an early lethal skeletal dysplasia characterized by short stature, developmental delay and other skeletal abnormalities. [provided by RefSeq, May 2017]

Canonical amino-acid sequenceUniProt

125 residues, UniProt reviewed canonical sequence.

>Q9Y3D7|PAM16
     1  MAKYLAQIIV MGVQVVGRAF ARALRQEFAA SRAAADARGR AGHRSAAASN LSGLSLQEAQ
    61  QILNVSKLSP EEVQKNYEHL FKVNDKSVGG SFYLQSKVVR AKERLDEELK IQAQEDREKG
   121  QMPHT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PAM16 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.41

Highest tissue expression

120 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PAM16.

Disease | AllUniProt

Conditions PAM16 is implicated in, by any mechanism.

• Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type (SMDMDM) MIM:613320

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 77 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Autosomal recessive spondylometaphyseal dysplasia, Megarbane type

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.86

gnomAD pLI

0.24

gnomAD missense Z

-0.51

DepMap mean gene effect

-1.37

DepMap dependency class

common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• intracellular protein transport
• negative regulation of ATP-dependent activity
• ossification
• protein import into mitochondrial matrix

Cellular components

• mitochondrial inner membrane
• mitochondrial matrix
• mitochondrion
• PAM complex, Tim23 associated import motor
• protein-containing complex
• TIM23 mitochondrial import inner membrane translocase complex

Protein domainsUniProt · Pfam · InterPro

• Chaperone J-domain superfamily
• Mitochondrial import inner membrane translocase subunit Tim16
• Pam16

KeywordsUniProt

• Dwarfism
• Membrane
• Mitochondrion
• Mitochondrion inner membrane
• Phosphoprotein
• Protein transport
• Translocation
• Transport

InteractionsUniProt · HPA

Protein binding partners of PAM16 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• DNAJC15
• DNAJC19
• FEZ1