IMMT (inner membrane mitochondrial protein)

2014-08-01  

Identity

HGNC
IMMT
LOCATION
2p11.2
LOCUSID
10989
ALIAS
HMP,MICOS60,MINOS2,Mic60,P87,P87/89,P89,PIG4,PIG52
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10989
MIM: 600378
HGNC: 6047
Ensembl: ENSG00000132305

Variants:

dbSNP: 10989
ClinVar: 10989
TCGA: ENSG00000132305
COSMIC: IMMT

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000132305ENST00000254636C9J406
ENSG00000132305ENST00000409051B9A067
ENSG00000132305ENST00000409258D6RAW4
ENSG00000132305ENST00000410111Q16891
ENSG00000132305ENST00000419070H7C463
ENSG00000132305ENST00000442664Q16891
ENSG00000132305ENST00000449247Q16891
ENSG00000132305ENST00000620815A0A087WYS0

Expression (GTEx)

0
50
100
150
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
156473772005The mitochondrial inner membrane protein mitofilin controls cristae morphology.143
176243302007The mitochondrial inner membrane protein mitofilin exists as a complex with SAM50, metaxins 1 and 2, coiled-coil-helix coiled-coil-helix domain-containing protein 3 and 6 and DnaJC11.69
208808362010Disrupted-in-schizophrenia 1 (DISC1) plays essential roles in mitochondria in collaboration with Mitofilin.61
237049302013APOOL is a cardiolipin-binding constituent of the Mitofilin/MINOS protein complex determining cristae morphology in mammalian mitochondria.42
222287672012CHCM1/CHCHD6, novel mitochondrial protein linked to regulation of mitofilin and mitochondrial cristae morphology.37
265303282015Mitofilin and CHCHD6 physically interact with Sam50 to sustain cristae structure.29
254632742015Transgenic overexpression of mitofilin attenuates diabetes mellitus-associated cardiac and mitochondria dysfunction.24
271535352016PKA Regulates PINK1 Stability and Parkin Recruitment to Damaged Mitochondria through Phosphorylation of MIC60.20
230589212012Mitofilin regulates cytochrome c release during apoptosis by controlling mitochondrial cristae remodeling.19
223604202012Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.18

Citation

Dessen P

IMMT (inner membrane mitochondrial protein)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54377/immt