CHAMP1 (chromosome alignment maintaining phosphoprotein 1)

2014-11-01  

Identity

HGNC
CHAMP1
LOCATION
13q34
LOCUSID
283489
ALIAS
C13orf8,CAMP,CHAMP,MRD40,ZNF828
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 283489
MIM: 616327
HGNC: 20311
Ensembl: ENSG00000198824

Variants:

dbSNP: 283489
ClinVar: 283489
TCGA: ENSG00000198824
COSMIC: CHAMP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198824ENST00000361283Q96JM3
ENSG00000198824ENST00000463003S4R3K0
ENSG00000198824ENST00000643483Q96JM3
ENSG00000198824ENST00000644294A0A2R8Y735
ENSG00000198824ENST00000645174A0A2R8Y4S6

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

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
288873072017Dynamic feature of mitotic arrest deficient 2-like protein 2 (MAD2L2) and structural basis for its interaction with chromosome alignment-maintaining phosphoprotein (CAMP).8
210633902011CAMP (C13orf8, ZNF828) is a novel regulator of kinetochore-microtubule attachment.0
263403352015De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.0
267513952016De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability.0

Citation

Dessen P

CHAMP1 (chromosome alignment maintaining phosphoprotein 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61788/champ1