KHDRBS1 (KH RNA binding domain containing, signal transduction associated 1)

2003-02-01  

Identity

HGNC
KHDRBS1
LOCATION
1p35.2
LOCUSID
10657
ALIAS
Sam68,p62,p68
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10657
MIM: 602489
HGNC: 18116
Ensembl: ENSG00000121774

Variants:

dbSNP: 10657
ClinVar: 10657
TCGA: ENSG00000121774
COSMIC: KHDRBS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000121774ENST00000327300Q07666
ENSG00000121774ENST00000492989Q07666

Expression (GTEx)

0
50
100
150
200
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

Pathways

PathwaySourceExternal ID
Signal TransductionREACTOMER-HSA-162582
Signaling by PTK6REACTOMER-HSA-8848021
PTK6 Regulates Proteins Involved in RNA ProcessingREACTOMER-HSA-8849468

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
183945572008The signaling adaptor p62 is an important NF-kappaB mediator in tumorigenesis.253
201861222010Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients.169
173718362007The RNA-binding protein Sam68 modulates the alternative splicing of Bcl-x.127
208762802010Sam68 regulates EMT through alternative splicing-activated nonsense-mediated mRNA decay of the SF2/ASF proto-oncogene.78
200288572010Alternative splicing of the cyclin D1 proto-oncogene is regulated by the RNA-binding protein Sam68.72
201861232010The splicing regulator Sam68 binds to a novel exonic splicing silencer and functions in SMN2 alternative splicing in spinal muscular atrophy.57
163620772005Ablation of the Sam68 RNA binding protein protects mice from age-related bone loss.52
161793492005Tyrosine phosphorylation of sam68 by breast tumor kinase regulates intranuclear localization and cell cycle progression.50
161793492005Tyrosine phosphorylation of sam68 by breast tumor kinase regulates intranuclear localization and cell cycle progression.50
124829642003Sam68 enhances the cytoplasmic utilization of intron-containing RNA and is functionally regulated by the nuclear kinase Sik/BRK.47

Citation

Dessen P

KHDRBS1 (KH RNA binding domain containing, signal transduction associated 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/41056/khdrbs1-(kh-rna-binding-domain-containing-signal-transduction-associated-1)