ICA1 (islet cell autoantigen 1)

2014-11-01  

Identity

HGNC
ICA1
LOCATION
7p21.3
LOCUSID
3382
ALIAS
ICA69,ICAp69
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3382
MIM: 147625
HGNC: 5343
Ensembl: ENSG00000003147

Variants:

dbSNP: 3382
ClinVar: 3382
TCGA: ENSG00000003147
COSMIC: ICA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000003147ENST00000265577Q05084
ENSG00000003147ENST00000317367B9ZVM7
ENSG00000003147ENST00000339809Q6LCR0
ENSG00000003147ENST00000396675Q05084
ENSG00000003147ENST00000396675A0A024RA29
ENSG00000003147ENST00000401396E9PDL4
ENSG00000003147ENST00000402384Q05084
ENSG00000003147ENST00000402384A0A024RA29
ENSG00000003147ENST00000406470Q05084
ENSG00000003147ENST00000406470A0A024RA29
ENSG00000003147ENST00000407906E7ENI6
ENSG00000003147ENST00000422063Q05084
ENSG00000003147ENST00000430867C9J8Y3
ENSG00000003147ENST00000446305C9IZC7
ENSG00000003147ENST00000447326C9J3Y4
ENSG00000003147ENST00000455539Q6LCT9
ENSG00000003147ENST00000457755F8WET5
ENSG00000003147ENST00000650486A0A3B3IST8

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
Type I diabetes mellitusKEGGko04940
Type I diabetes mellitusKEGGhsa04940

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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166131379o-desmethyltramadolChemicalClinicalAnnotationassociatedPK30971809
PA451735tramadolChemicalClinicalAnnotationassociatedPK30971809

References

Pubmed IDYearTitleCitations
314789432020Novel SRF-ICA1L Fusions in Cellular Myoid Neoplasms With Potential For Malignant Behavior.7
314789432020Novel SRF-ICA1L Fusions in Cellular Myoid Neoplasms With Potential For Malignant Behavior.7
238367802013Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus.19
243583152013C-terminal domain of ICA69 interacts with PICK1 and acts on trafficking of PICK1-PKCα complex and cerebellar plasticity.9
238367802013Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus.19
243583152013C-terminal domain of ICA69 interacts with PICK1 and acts on trafficking of PICK1-PKCα complex and cerebellar plasticity.9
224479272012Sequence variation in promoter of Ica1 gene, which encodes protein implicated in type 1 diabetes, causes transcription factor autoimmune regulator (AIRE) to increase its binding and down-regulate expression.10
224479272012Sequence variation in promoter of Ica1 gene, which encodes protein implicated in type 1 diabetes, causes transcription factor autoimmune regulator (AIRE) to increase its binding and down-regulate expression.10
209628502011A targeted association study in systemic lupus erythematosus identifies multiple susceptibility alleles.25
209628502011A targeted association study in systemic lupus erythematosus identifies multiple susceptibility alleles.25
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
205263402010Common variants in FOXP1 are associated with generalized vitiligo.32
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
205263402010Common variants in FOXP1 are associated with generalized vitiligo.32
181872312008ICA69 is a novel Rab2 effector regulating ER-Golgi trafficking in insulinoma cells.32

Citation

Dessen P

ICA1 (islet cell autoantigen 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64489/tumors-explorer/favicon/deep-insight-explorer/