CLUAP1 (clusterin associated protein 1)

2007-02-01  

Identity

HGNC
CLUAP1
LOCATION
16p13.3
LOCUSID
23059
ALIAS
CFAP22,FAP22,IFT38
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23059
MIM: 616787
HGNC: 19009
Ensembl: ENSG00000103351

Variants:

dbSNP: 23059
ClinVar: 23059
TCGA: ENSG00000103351
COSMIC: CLUAP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000103351ENST00000341633J3KNW5
ENSG00000103351ENST00000571025I3L3S9
ENSG00000103351ENST00000572600Q96AJ1
ENSG00000103351ENST00000572632I3L0L1
ENSG00000103351ENST00000573370I3L455
ENSG00000103351ENST00000574369I3L1J4
ENSG00000103351ENST00000574551I3L121
ENSG00000103351ENST00000574592I3L2E1
ENSG00000103351ENST00000575134I3L257
ENSG00000103351ENST00000576117I3L487
ENSG00000103351ENST00000576634Q96AJ1

Expression (GTEx)

0
5
10
15
20
25
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
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Intraflagellar transportREACTOMER-HSA-5620924

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
268200662016Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1.11
154804292004Isolation and characterization of a novel gene CLUAP1 whose expression is frequently upregulated in colon cancer.7
172032292007Identification of CLUAP1 as a human osteosarcoma tumor-associated antigen recognized by the humoral immune system.5
286796882017Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome.3

Citation

Dessen P

CLUAP1 (clusterin associated protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45543/cluap1-(clusterin-associated-protein-1)