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
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
251658802014Magmas functions as a ROS regulator and provides cytoprotection against oxidative stress-mediated damages.15
157040012005Magmas expression in neoplastic human prostate.11
207198562010Magmas, a gene newly identified as overexpressed in human and mouse ACTH-secreting pituitary adenomas, protects pituitary cells from apoptotic stimuli.9
247866422014The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia.9
273300772016Functional Diversity of Human Mitochondrial J-proteins Is Independent of Their Association with the Inner Membrane Presequence Translocase.1
304140992019Magmas inhibition as a potential treatment strategy in malignant glioma.1

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