CAMSAP1 (calmodulin regulated spectrin associated protein 1)

2015-02-01  

Identity

HGNC
CAMSAP1
LOCATION
9q34.3
LOCUSID
157922
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 157922
MIM: 613774
HGNC: 19946
Ensembl: ENSG00000130559

Variants:

dbSNP: 157922
ClinVar: 157922
TCGA: ENSG00000130559
COSMIC: CAMSAP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130559ENST00000312405Q5T5Y3
ENSG00000130559ENST00000389532Q5T5Y3
ENSG00000130559ENST00000389532A0A384NY94
ENSG00000130559ENST00000409386Q5T5Y3

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
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
362834052022Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.4
362834052022Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.4
317485462019Structural determinants of microtubule minus end preference in CAMSAP CKK domains.20
317485462019Structural determinants of microtubule minus end preference in CAMSAP CKK domains.20
279586502017Calmodulin Regulated Spectrin Associated Protein 1 mRNA is Directly Regulated by miR-126 in Primary Human Osteoblasts.0
279586502017Calmodulin Regulated Spectrin Associated Protein 1 mRNA is Directly Regulated by miR-126 in Primary Human Osteoblasts.0
246038042014MicroRNA-126 modulates the tumor microenvironment by targeting calmodulin-regulated spectrin-associated protein 1 (Camsap1).18
247069192014Regulation of microtubule minus-end dynamics by CAMSAPs and Patronin.91
246038042014MicroRNA-126 modulates the tumor microenvironment by targeting calmodulin-regulated spectrin-associated protein 1 (Camsap1).18
247069192014Regulation of microtubule minus-end dynamics by CAMSAPs and Patronin.91
195089792009The CKK domain (DUF1781) binds microtubules and defines the CAMSAP/ssp4 family of animal proteins.51
195089792009The CKK domain (DUF1781) binds microtubules and defines the CAMSAP/ssp4 family of animal proteins.51

Citation

Dessen P

CAMSAP1 (calmodulin regulated spectrin associated protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2015-02-01

Online version: http://atlasgeneticsoncology.org/gene/54961/js/lib/gene-fusions-explorer/favicon/favicon-16x16.png