COMMD1 (copper metabolism domain containing 1)

2008-12-01  

Identity

HGNC
COMMD1
LOCATION
2p15
LOCUSID
150684
ALIAS
C2orf5,MURR1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 150684
MIM: 607238
HGNC: 23024
Ensembl: ENSG00000173163

Variants:

dbSNP: 150684
ClinVar: 150684
TCGA: ENSG00000173163
COSMIC: COMMD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000173163ENST00000311832Q8N668
ENSG00000173163ENST00000427417H0Y7J4
ENSG00000173163ENST00000444166H7C377
ENSG00000173163ENST00000445644E9PE85
ENSG00000173163ENST00000455659H7C169
ENSG00000173163ENST00000458337H0Y7J4

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
171833672007COMMD1 promotes the ubiquitination of NF-kappaB subunits through a cullin-containing ubiquitin ligase.104
157999662005COMMD proteins, a novel family of structural and functional homologs of MURR1.99
146852422003The gene product Murr1 restricts HIV-1 replication in resting CD4+ lymphocytes.98
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.75
146852662004A novel role for XIAP in copper homeostasis through regulation of MURR1.68
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
253559472015COMMD1 is linked to the WASH complex and regulates endosomal trafficking of the copper transporter ATP7A.52
129680352003The copper toxicosis gene product Murr1 directly interacts with the Wilson disease protein.44
179195022007Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B.44
200680692010Clusterin facilitates COMMD1 and I-kappaB degradation to enhance NF-kappaB activity in prostate cancer cells.40

Citation

Dessen P

COMMD1 (copper metabolism domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2008-12-01

Online version: http://atlasgeneticsoncology.org/gene/50492/commd1