GIPC1 (GIPC PDZ domain containing family member 1)

2007-02-01  

Identity

HGNC
GIPC1
LOCATION
19p13.12
LOCUSID
10755
ALIAS
C19orf3,GIPC,GLUT1CBP,Hs.6454,IIP-1,NIP,OPDM2,RGS19IP1,SEMCAP,SYNECTIIN,SYNECTIN,TIP-2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10755
MIM: 605072
HGNC: 1226
Ensembl: ENSG00000123159

Variants:

dbSNP: 10755
ClinVar: 10755
TCGA: ENSG00000123159
COSMIC: GIPC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000123159ENST00000345425O14908
ENSG00000123159ENST00000345425A0A024R7I0
ENSG00000123159ENST00000393028O14908
ENSG00000123159ENST00000393028A0A024R7I1
ENSG00000123159ENST00000393033O14908
ENSG00000123159ENST00000393033A0A024R7I0
ENSG00000123159ENST00000586027O14908
ENSG00000123159ENST00000586027A0A024R7I0
ENSG00000123159ENST00000587210K7ESN1
ENSG00000123159ENST00000587934K7ELJ2
ENSG00000123159ENST00000587969K7EIT0
ENSG00000123159ENST00000589497K7EJ33
ENSG00000123159ENST00000589631K7EM11
ENSG00000123159ENST00000591245K7ELJ2
ENSG00000123159ENST00000591349O14908
ENSG00000123159ENST00000591349A0A024R7I1

Expression (GTEx)

0
50
100
150
200
250
300
350
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
375501682023Intrafamilial phenotypic heterogeneity in GIPC1-related oculopharyngodistal myopathy type 2: a case report.0
375501682023Intrafamilial phenotypic heterogeneity in GIPC1-related oculopharyngodistal myopathy type 2: a case report.0
351524602022GIPC1 CGG Repeat Expansion Is Associated with Movement Disorders.9
351524602022GIPC1 CGG Repeat Expansion Is Associated with Movement Disorders.9
324132822020Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy.44
324470512020GIPC-Regulated IGFBP-3 Promotes HSC Migration In Vitro and Portal Hypertension In Vivo Through a β1-Integrin Pathway.13
324132822020Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy.44
324470512020GIPC-Regulated IGFBP-3 Promotes HSC Migration In Vitro and Portal Hypertension In Vivo Through a β1-Integrin Pathway.13
316641172019Silencing of Neuropilins and GIPC1 in pancreatic ductal adenocarcinoma exerts multiple cellular and molecular antitumor effects.7
316641172019Silencing of Neuropilins and GIPC1 in pancreatic ductal adenocarcinoma exerts multiple cellular and molecular antitumor effects.7
297551262018NRP-1 interacts with GIPC1 and α6/β4-integrins to increase YAP1/∆Np63α-dependent epidermal cancer stem cell survival.19
297551262018NRP-1 interacts with GIPC1 and α6/β4-integrins to increase YAP1/∆Np63α-dependent epidermal cancer stem cell survival.19
267577322016CAPG and GIPC1: Breast Cancer Biomarkers for Bone Metastasis Development and Treatment.50
267878372016A GIPC1-Palmitate Switch Modulates Dopamine Drd3 Receptor Trafficking and Signaling.5
274815132016Neuropilin-1 (NRP-1)/GIPC1 pathway mediates glioma progression.18

Citation

Dessen P

GIPC1 (GIPC PDZ domain containing family member 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46448