PMFBP1 (polyamine modulated factor 1 binding protein 1)

2014-11-01  

Identity

HGNC
PMFBP1
LOCATION
16q22.2
LOCUSID
83449
ALIAS
SPGF31,STAP
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 83449
MIM: 618085
HGNC: 17728
Ensembl: ENSG00000118557

Variants:

dbSNP: 83449
ClinVar: 83449
TCGA: ENSG00000118557
COSMIC: PMFBP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000118557ENST00000237353Q8TBY8
ENSG00000118557ENST00000355636Q8TBY8
ENSG00000118557ENST00000379073F8W771
ENSG00000118557ENST00000535461F5H4F8
ENSG00000118557ENST00000536211F5H0H9
ENSG00000118557ENST00000537392H0YFP6
ENSG00000118557ENST00000537465Q8TBY8
ENSG00000118557ENST00000537792F5H5J2
ENSG00000118557ENST00000539172F5GXW3
ENSG00000118557ENST00000540440F5GYR2

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
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
302986962019Biallelic mutations in PMFBP1 cause acephalic spermatozoa.3

Citation

Dessen P

PMFBP1 (polyamine modulated factor 1 binding protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72015/pmfbp1