PAM16 (presequence translocase associated motor 16)

Gene

• Entrez ID: 51025
• Gene name: Presequence translocase associated motor 16
• Gene symbol: PAM16
• Synonyms (NCBI Gene): CGI-136, MAGMAS, SMDMDM, TIM16, TIMM16
• 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

miRTarBase ID	miRNA	Experiments	Reference
MIRT020614	hsa-miR-155-5p	Proteomics	18668040

Gene ontology (GO)

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
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	NAS	10339406
GO:0005744	Component	TIM23 mitochondrial import inner membrane translocase complex	IBA
GO:0005744	Component	TIM23 mitochondrial import inner membrane translocase complex	IEA
GO:0005744	Component	TIM23 mitochondrial import inner membrane translocase complex	NAS	10339406
GO:0005759	Component	Mitochondrial matrix	IDA	20053669
GO:0006886	Process	Intracellular protein transport	NAS	10339406
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0030150	Process	Protein import into mitochondrial matrix	IBA
GO:0030150	Process	Protein import into mitochondrial matrix	IEA
GO:0030150	Process	Protein import into mitochondrial matrix	IGI	20053669
GO:0032780	Process	Negative regulation of ATP-dependent activity	IDA	19564938, 20053669
GO:0032991	Component	Protein-containing complex	IDA	19564938, 20053669
GO:0099617	Component	Matrix side of mitochondrial inner membrane	IDA	20053669

Other IDs

• MIM: 614336
• HGNC: 29679
• e!Ensembl: ENSG00000217930

Protein

• UniProt ID: 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:

  MAKYLAQIIVMGVQVVGRAFARALRQEFAASRAAADARGRAGHRSAAASNLSGLSLQEAQ
  QILNVSKLSPEEVQKNYEHLFKVNDKSVGGSFYLQSKVVRAKERLDEELKIQAQEDREKG
  QMPHT

• Sequence length: 125

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autosomal recessive spondylometaphyseal dysplasia, Megarbane type	Pathogenic	rs786203989, rs1596247721	RCV000167551 RCV000788051	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA MEGARBANE TYPE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHONDRODYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUODENITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROENTERITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAM16-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
ACTH-Secreting Pituitary Adenoma	Pituitary adenoma	BEFREE	20719856		★☆☆☆☆ Found in Text Mining only
	Spondylometaphyseal Dysplasia	Orphanet			★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	20053669	Associate	★☆☆☆☆ Found in Text Mining only
Chondrodysplasia, Megarbane-Dagher-Melki Type	Chondrodysplasia Punctata	ORPHANET_DG	24786642		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chondrodysplasia, Megarbane-Dagher-Melki Type	Chondrodysplasia Punctata	UNIPROT_DG	24786642		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chondrodysplasia, Megarbane-Dagher-Melki Type	Chondrodysplasia Punctata	GENOMICS_ENGLAND_DG	27354339		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chondrodysplasia, Megarbane-Dagher-Melki Type	Chondrodysplasia Punctata	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital small ears	Microtia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephronophthisis	Nephronophthisis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
NEPHRONOPHTHISIS 7	Nephronophthisis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	15704001		★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sacral dysgenesis	Sacral Dysgenesis	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Sacral dysgenesis	Sacral Dysgenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strudwick syndrome	Strudwick Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only