MTPAP (mitochondrial poly(A) polymerase)

2014-11-01  

Identity

HGNC
MTPAP
LOCATION
10p11.23
LOCUSID
55149
ALIAS
PAPD1,SPAX4,TENT6
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55149
MIM: 613669
HGNC: 25532
Ensembl: ENSG00000107951

Variants:

dbSNP: 55149
ClinVar: 55149
TCGA: ENSG00000107951
COSMIC: MTPAP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000107951ENST00000263063Q9NVV4
ENSG00000107951ENST00000417581Q5T852
ENSG00000107951ENST00000421701Q5T851

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

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
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
155472492004Identification of a novel human nuclear-encoded mitochondrial poly(A) polymerase.67
192047262009Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.63
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
250081112014A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expression.28
212921632011Structural basis for dimerization and activity of human PAPD1, a noncanonical poly(A) polymerase.26
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
168103312006A novel nuclear-encoded mitochondrial poly(A) polymerase PAPD1 is a potential candidate gene for the extreme obesity related phenotypes in mammals.9
263548632015Mitochondrial poly(A) polymerase is involved in tRNA repair.9
189846742009KIF5B gene sequence variation and response of cardiac stroke volume to regular exercise.8

Citation

Dessen P

MTPAP (mitochondrial poly(A) polymerase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/54954/mtpap