RAPH1 (Ras association (RalGDS/AF-6) and pleckstrin homology domains 1)

2006-10-01  

Identity

HGNC
RAPH1
LOCATION
2q33.2
LOCUSID
65059
ALIAS
ALS2CR18,ALS2CR9,LPD,PREL-2,PREL2,RMO1,RalGDS/AF-6
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 65059
MIM: 609035
HGNC: 14436
Ensembl: ENSG00000173166

Variants:

dbSNP: 65059
ClinVar: 65059
TCGA: ENSG00000173166
COSMIC: RAPH1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000173166ENST00000308091Q70E73
ENSG00000173166ENST00000319170Q70E73
ENSG00000173166ENST00000374493C9K0J5
ENSG00000173166ENST00000418114Q70E73
ENSG00000173166ENST00000419464Q70E73
ENSG00000173166ENST00000420371C9J0R8
ENSG00000173166ENST00000423104Q70E73
ENSG00000173166ENST00000428637C9JLG4
ENSG00000173166ENST00000439222Q70E73
ENSG00000173166ENST00000453034Q70E73
ENSG00000173166ENST00000457812C9J164
ENSG00000173166ENST00000630330C9K0J5

Expression (GTEx)

0
5
10
15
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
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
211158202010Profilin1 regulates PI(3,4)P2 and lamellipodin accumulation at the leading edge thus influencing motility of MDA-MB-231 cells.46
180763802008Lamellipodin proline rich peptides associated with native plasma butyrylcholinesterase tetramers.33
190008332008Drosophila pico and its mammalian ortholog lamellipodin activate serum response factor and promote cell proliferation.26
264197052015A RIAM/lamellipodin-talin-integrin complex forms the tip of sticky fingers that guide cell migration.25
240766562013Endophilin, Lamellipodin, and Mena cooperate to regulate F-actin-dependent EGF-receptor endocytosis.23
262955682015Lamellipodin promotes actin assembly by clustering Ena/VASP proteins and tethering them to actin filaments.23
221948922011Nephrin regulates lamellipodia formation by assembling a protein complex that includes Ship2, filamin and lamellipodin.13
229151082012A phosphatidylinositol lipids system, lamellipodin, and Ena/VASP regulate dynamic morphology of multipolar migrating cells in the developing cerebral cortex.11
234834822013Crystal structure of Lamellipodin implicates diverse functions in actin polymerization and Ras signaling.9
261692712015Lamellipodin Is Important for Cell-to-Cell Spread and Actin-Based Motility in Listeria monocytogenes.7

Citation

Dessen P

RAPH1 (Ras association (RalGDS/AF-6) and pleckstrin homology domains 1)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43448/raph1