MTCH1 (mitochondrial carrier 1)

2007-04-01  

Identity

HGNC
MTCH1
LOCATION
6p21.2
LOCUSID
23787
ALIAS
CGI-64,PIG60,PSAP,SLC25A49
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23787
MIM: 610449
HGNC: 17586
Ensembl: ENSG00000137409

Variants:

dbSNP: 23787
ClinVar: 23787
TCGA: ENSG00000137409
COSMIC: MTCH1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000137409ENST00000373616Q9NZJ7
ENSG00000137409ENST00000373616A0A024RD08
ENSG00000137409ENST00000373627Q9NZJ7
ENSG00000137409ENST00000373627A0A024RCX4
ENSG00000137409ENST00000418541H7C196
ENSG00000137409ENST00000460219H0Y8C3

Expression (GTEx)

0
100
200
300
400
500
600
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
232661872013The mitochondrial transporter family SLC25: identification, properties and physiopathology.159
222779672012Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.141
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
123777712002The novel presenilin-1-associated protein is a proapoptotic mitochondrial protein.19
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
176708882007Two isoforms of PSAP/MTCH1 share two proapoptotic domains and multiple internal signals for import into the mitochondrial outer membrane.12
218563032011Protein oligomerization mediated by the transmembrane carboxyl terminal domain of Bcl-XL.7
182911142008Both the N-terminal fragment and the protein-protein interaction domain (PDZ domain) are required for the pro-apoptotic activity of presenilin-associated protein PSAP.5
232072402013PSAP induces a unique Apaf-1 and Smac-dependent mitochondrial apoptotic pathway independent of Bcl-2 family proteins.4
240350082013Mitochondrial carrier homolog 1 (Mtch1) antibodies in neuro-Behçet's disease.3

Citation

Dessen P

MTCH1 (mitochondrial carrier 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46691/mtch1