PAM16 (presequence translocase associated motor 16)

2010-09-01  

Identity

HGNC
PAM16
LOCATION
16p13.3
LOCUSID
51025
ALIAS
CGI-136,MAGMAS,SMDMDM,TIM16,TIMM16
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 51025
MIM: 614336
HGNC: 29679
Ensembl: ENSG00000217930

Variants:

dbSNP: 51025
ClinVar: 51025
TCGA: ENSG00000217930
COSMIC: PAM16

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000217930ENST00000318059Q9Y3D7
ENSG00000217930ENST00000571178I3L3G8
ENSG00000217930ENST00000571941I3L3T0
ENSG00000217930ENST00000571986A0A0B4J298
ENSG00000217930ENST00000573553I3L3T0
ENSG00000217930ENST00000575636I3L1K9
ENSG00000217930ENST00000575848I3L0X9
ENSG00000217930ENST00000576217Q9Y3D7
ENSG00000217930ENST00000577031I3L1U7

Expression (GTEx)

0
5
10
15
20
25
30
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Mitochondrial protein importREACTOMER-HSA-1268020

References

Pubmed IDYearTitleCitations
347151252021Multiple variants of the human presequence translocase motor subunit Magmas govern the mitochondrial import.2
347151252021Multiple variants of the human presequence translocase motor subunit Magmas govern the mitochondrial import.2
304140992019Magmas inhibition as a potential treatment strategy in malignant glioma.7
304140992019Magmas inhibition as a potential treatment strategy in malignant glioma.7
273300772016Functional Diversity of Human Mitochondrial J-proteins Is Independent of Their Association with the Inner Membrane Presequence Translocase.12
273300772016Functional Diversity of Human Mitochondrial J-proteins Is Independent of Their Association with the Inner Membrane Presequence Translocase.12
247866422014The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia.20
251658802014Magmas functions as a ROS regulator and provides cytoprotection against oxidative stress-mediated damages.25
247866422014The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia.20
251658802014Magmas functions as a ROS regulator and provides cytoprotection against oxidative stress-mediated damages.25
207198562010Magmas, a gene newly identified as overexpressed in human and mouse ACTH-secreting pituitary adenomas, protects pituitary cells from apoptotic stimuli.13
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
207198562010Magmas, a gene newly identified as overexpressed in human and mouse ACTH-secreting pituitary adenomas, protects pituitary cells from apoptotic stimuli.13
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
157040012005Magmas expression in neoplastic human prostate.15

Citation

Dessen P

PAM16 (presequence translocase associated motor 16)

Atlas Genet Cytogenet Oncol Haematol. 2010-09-01

Online version: http://atlasgeneticsoncology.org/gene/51663/pam16