BBIP1 (BBSome interacting protein 1)

2014-11-01  

Identity

HGNC
BBIP1
LOCATION
10q25.2
LOCUSID
92482
ALIAS
BBIP10,BBS18,NCRNA00081,bA348N5.3

Other Information

Locus ID:

NCBI: 92482
MIM: 613605
HGNC: 28093
Ensembl: ENSG00000214413

Variants:

dbSNP: 92482
ClinVar: 92482
TCGA: ENSG00000214413
COSMIC: BBIP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000214413ENST00000398289E9PIK7
ENSG00000214413ENST00000423273A8MTZ0
ENSG00000214413ENST00000436562A8MTZ0
ENSG00000214413ENST00000447005A8MTZ0
ENSG00000214413ENST00000448814A8MTZ0
ENSG00000214413ENST00000454061A8MTZ0
ENSG00000214413ENST00000605742A8MTZ0
ENSG00000214413ENST00000651766A0A494C180
ENSG00000214413ENST00000651952A8MTZ0
ENSG00000214413ENST00000652043A8MTZ0
ENSG00000214413ENST00000652396A8MTZ0
ENSG00000214413ENST00000652400A8MTZ0

Expression (GTEx)

0
5
10
15
20
25
30
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
Cargo trafficking to the periciliary membraneREACTOMER-HSA-5620920
BBSome-mediated cargo-targeting to ciliumREACTOMER-HSA-5620922

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
240269852014Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18).50

Citation

Dessen P

BBIP1 (BBSome interacting protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60711/bbip1-(bbsome-interacting-protein-1)