PAM16 presequence translocase associated motor 16 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PAM16provided by HGNC
Official Full Name: presequence translocase associated motor 16provided by HGNC
Primary source: HGNC:HGNC:29679
See related: Ensembl:ENSG00000217930 MIM:614336; AllianceGenome:HGNC:29679
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TIM16; MAGMAS; SMDMDM; TIMM16; CGI-136
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 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]
Expression: Ubiquitous expression in testis (RPKM 9.8), adrenal (RPKM 6.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p13.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (4340251..4351321, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (4367543..4380493, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (4390252..4401322, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Multiple variants of the human presequence translocase motor subunit Magmas govern the mitochondrial import.
Title: Multiple variants of the human presequence translocase motor subunit Magmas govern the mitochondrial import.
Findings demonstrate that Magmas is overexpressed in tissue sections from glioma patients and xenografts. In vivo studies showed that a novel Magmas small molecule inhibitor, BT#9, could cross the BBB in mice. In vitro studies revealed that BT#9 significantly decreased cell proliferation, induced apoptosis, and blocked migration and invasion.
Title: Magmas inhibition as a potential treatment strategy in malignant glioma.
Both DnaJC15 and DnaJC19 formed two distinct subcomplexes with Magmas at the import channel.
Title: Functional Diversity of Human Mitochondrial J-proteins Is Independent of Their Association with the Inner Membrane Presequence Translocase.
A novel essential role of Magmas is a 'ROS regulatory protein' in the maintenance of cellular redox homeostasis and imparting cytoprotection under oxidative stress.
Title: Magmas functions as a ROS regulator and provides cytoprotection against oxidative stress-mediated damages.
finding of deleterious MAGMAS mutations in an early lethal skeletal dysplasia supports a key role for this mitochondrial protein in the ossification process
Title: The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Magmas protects pituitary cells from apoptosis, suggesting its possible involvement in neoplastic transformation.
Title: Magmas, a gene newly identified as overexpressed in human and mouse ACTH-secreting pituitary adenomas, protects pituitary cells from apoptotic stimuli.
Magmas expression in prostate cancer.
Title: Magmas expression in neoplastic human prostate.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autosomal recessive spondylometaphyseal dysplasia, Megarbane type MedGen: C2750075 OMIM: 613320 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-11319 (e-PCR)
- UniSTS:47307

SHGC-57722 (e-PCR)
- UniSTS:69073

RH103952 (e-PCR)
- UniSTS:98277

Readthrough CORO7-PAM16

Readthrough gene: CORO7-PAM16, Included gene: CORO7

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in intracellular protein transport	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of ATP-dependent activity	IDA Inferred from Direct Assay more info	PubMed
involved_in ossification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein import into mitochondrial matrix	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein import into mitochondrial matrix	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
part_of PAM complex, Tim23 associated import motor	IGI Inferred from Genetic Interaction more info	PubMed
part_of PAM complex, Tim23 associated import motor	ISS Inferred from Sequence or Structural Similarity more info
part_of TIM23 mitochondrial import inner membrane translocase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of TIM23 mitochondrial import inner membrane translocase complex	NAS Non-traceable Author Statement more info	PubMed
colocalizes_with matrix side of mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrial matrix	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: mitochondrial import inner membrane translocase subunit TIM16

Names: magmas-like protein; mitochondria associated protein involved in granulocyte macrophage colony stimulating factor signal transduction; mitochondria-associated granulocyte macrophage CSF-signaling molecule; presequence translocase associated motor 16 homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.