JAKMIP1 (janus kinase and microtubule interacting protein 1)

2014-11-01  

Identity

HGNC
JAKMIP1
LOCATION
4p16.1
LOCUSID
152789
ALIAS
Gababrbp,JAMIP1,MARLIN1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 152789
MIM: 611195
HGNC: 26460
Ensembl: ENSG00000152969

Variants:

dbSNP: 152789
ClinVar: 152789
TCGA: ENSG00000152969
COSMIC: JAKMIP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000152969ENST00000282924Q96N16
ENSG00000152969ENST00000409021Q96N16
ENSG00000152969ENST00000409371Q96N16
ENSG00000152969ENST00000409831Q96N16
ENSG00000152969ENST00000410077Q96N16
ENSG00000152969ENST00000473053F2Z2K5
ENSG00000152969ENST00000637373A0A1B0GUE0

Expression (GTEx)

0
10
20
30
40
50
60
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
178047892007Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.62
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
147185372004Marlin-1, a novel RNA-binding protein associates with GABA receptors.16
152775312004Jamip1 (marlin-1) defines a family of proteins interacting with janus kinases and microtubules.14
177613932007Identification and expression analysis of novel Jakmip1 transcripts.11
189411732008Jakmip1 is expressed upon T cell differentiation and has an inhibitory function in cytotoxic T lymphocytes.5
234812962013Overexpression of JAKMIP1 associates with Wnt/β-catenin pathway activation and promotes cancer cell proliferation in vitro.2

Citation

Dessen P

JAKMIP1 (janus kinase and microtubule interacting protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64712/jakmip1