RIC1 (RIC1 homolog, RAB6A GEF complex partner 1)

2014-07-01  

Identity

HGNC
RIC1
LOCATION
9p24.1
LOCUSID
57589
ALIAS
CATIFA,CIP150,KIAA1432,bA207C16.1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 57589
MIM: 610354
HGNC: 17686
Ensembl: ENSG00000107036

Variants:

dbSNP: 57589
ClinVar: 57589
TCGA: ENSG00000107036
COSMIC: RIC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000107036ENST00000251879Q4ADV7
ENSG00000107036ENST00000414202Q4ADV7
ENSG00000107036ENST00000418622Q4ADV7
ENSG00000107036ENST00000490816H0YFD4
ENSG00000107036ENST00000545243H0YGC4
ENSG00000107036ENST00000545641H0YFN7

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

Pathways

PathwaySourceExternal ID
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Intra-Golgi and retrograde Golgi-to-ER trafficREACTOMER-HSA-6811442
Retrograde transport at the Trans-Golgi-NetworkREACTOMER-HSA-6811440
Intra-Golgi trafficREACTOMER-HSA-6811438
RAB GEFs exchange GTP for GDP on RABsREACTOMER-HSA-8876198

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
364937692023Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes.3
364937692023Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes.3
319327962020Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies.22
319327962020Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies.22
237164742013Genome-wide identification of genes with amplification and/or fusion in small cell lung cancer.67
237164742013Genome-wide identification of genes with amplification and/or fusion in small cell lung cancer.67
161120822005Molecular cloning and functional analysis of a novel Cx43 partner protein CIP150.12
161120822005Molecular cloning and functional analysis of a novel Cx43 partner protein CIP150.12

Citation

Dessen P

RIC1 (RIC1 homolog, RAB6A GEF complex partner 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-07-01

Online version: http://atlasgeneticsoncology.org/gene/54085/ric1-(ric1-homolog-rab6a-gef-complex-partner-1)