ASB9 (ankyrin repeat and SOCS box containing 9)

2011-02-01  

Identity

HGNC
ASB9
LOCATION
Xp22.2
LOCUSID
140462
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 140462
MIM: 300890
HGNC: 17184
Ensembl: ENSG00000102048

Variants:

dbSNP: 140462
ClinVar: 140462
TCGA: ENSG00000102048
COSMIC: ASB9

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000102048ENST00000380483Q96DX5
ENSG00000102048ENST00000380483A0A024RBZ4
ENSG00000102048ENST00000380485Q96DX5
ENSG00000102048ENST00000380485A0A024RBW2
ENSG00000102048ENST00000380488Q96DX5
ENSG00000102048ENST00000380488A0A024RBW7
ENSG00000102048ENST00000477346R4GN94
ENSG00000102048ENST00000546332Q96DX5
ENSG00000102048ENST00000546332A0A024RBW2

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen processing: Ubiquitination & Proteasome degradationREACTOMER-HSA-983168

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
203026262010ASB9 interacts with ubiquitous mitochondrial creatine kinase and inhibits mitochondrial function.23
238375922013Multimeric complexes among ankyrin-repeat and SOCS-box protein 9 (ASB9), ElonginBC, and Cullin 5: insights into the structure and assembly of ECS-type Cullin-RING E3 ubiquitin ligases.11
208780582010Clinical significance of ASB9 in human colorectal cancer.10
224188392012Crystal structure of Human ASB9-2 and substrate-recognition of CKB.7
256542632015How the ankyrin and SOCS box protein, ASB9, binds to creatine kinase.7
192757502009Crystallization and preliminary X-ray analysis of the splice variant of human ankyrin repeat and suppressor of cytokine signaling box protein 9 (hASB9-2).4
273968302016Model of the Ankyrin and SOCS Box Protein, ASB9, E3 Ligase Reveals a Mechanism for Dynamic Ubiquitin Transfer.4
186804642008Crystallization and preliminary X-ray analysis of the splice variant of human ankyrin repeat and suppressor of cytokine signaling box protein 9 (hASB9-2).0

Citation

Dessen P

ASB9 (ankyrin repeat and SOCS box containing 9)

Atlas Genet Cytogenet Oncol Haematol. 2011-02-01

Online version: http://atlasgeneticsoncology.org/gene/52072/asb9