IQSEC1 (IQ motif and Sec7 domain ArfGEF 1)

2003-05-01  

Identity

HGNC
IQSEC1
LOCATION
3p25.2
LOCUSID
9922
ALIAS
ARF-GEP100,ARFGEP100,BRAG2,GEP100,IDDSSBA
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9922
MIM: 610166
HGNC: 29112
Ensembl: ENSG00000144711

Variants:

dbSNP: 9922
ClinVar: 9922
TCGA: ENSG00000144711
COSMIC: IQSEC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000144711ENST00000273221Q6DN90
ENSG00000144711ENST00000613206A0A087WWK8
ENSG00000144711ENST00000618604A0A0C4DGT3
ENSG00000144711ENST00000646269A0A2R8Y7T6
ENSG00000144711ENST00000647458A0A2R8Y695
ENSG00000144711ENST00000648114A0A3B3IRZ4
ENSG00000144711ENST00000648386A0A3B3IU98

Expression (GTEx)

0
50
100
150
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
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144

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
374952732023Contribution of gene polymorphisms on 3p25 to salivary gland carcinoma, ameloblastoma, and odontogenic keratocyst in the Chinese Han population.0
374952732023Contribution of gene polymorphisms on 3p25 to salivary gland carcinoma, ameloblastoma, and odontogenic keratocyst in the Chinese Han population.0
365179072022circ-Iqsec1 induces bone marrow-derived mesenchymal stem cell (BMSC) osteogenic differentiation through the miR-187-3p/Satb2 signaling pathway.3
365179072022circ-Iqsec1 induces bone marrow-derived mesenchymal stem cell (BMSC) osteogenic differentiation through the miR-187-3p/Satb2 signaling pathway.3
337125892021An ARF GTPase module promoting invasion and metastasis through regulating phosphoinositide metabolism.11
337125892021An ARF GTPase module promoting invasion and metastasis through regulating phosphoinositide metabolism.11
322342132020Calcium-stimulated disassembly of focal adhesions mediated by an ORP3/IQSec1 complex.30
322342132020Calcium-stimulated disassembly of focal adhesions mediated by an ORP3/IQSec1 complex.30
316074252019Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.17
316074252019Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.17
268843372016Subunit-selective N-Methyl-d-aspartate (NMDA) Receptor Signaling through Brefeldin A-resistant Arf Guanine Nucleotide Exchange Factors BRAG1 and BRAG2 during Synapse Maturation.18
268843372016Subunit-selective N-Methyl-d-aspartate (NMDA) Receptor Signaling through Brefeldin A-resistant Arf Guanine Nucleotide Exchange Factors BRAG1 and BRAG2 during Synapse Maturation.18
245228332014Brag2 differentially regulates β1- and β3-integrin-dependent adhesion in endothelial cells and is involved in developmental and pathological angiogenesis.12
249028792014Epidermal growth factor receptor-GEP100-Arf6 axis affects the prognosis of lung adenocarcinoma.14
245228332014Brag2 differentially regulates β1- and β3-integrin-dependent adhesion in endothelial cells and is involved in developmental and pathological angiogenesis.12

Citation

Dessen P

IQSEC1 (IQ motif and Sec7 domain ArfGEF 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/41061/gene-explorer/favicon/welcome