ICA1 (islet cell autoantigen 1)

2014-11-01 Affiliation

Identity

HGNC

ICA1

LOCATION

7p21.3

LOCUSID

3382

ALIAS

ICA69,ICAp69

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000003147	ENST00000265577	Q05084
ENSG00000003147	ENST00000317367	B9ZVM7
ENSG00000003147	ENST00000339809	Q6LCR0
ENSG00000003147	ENST00000396675	Q05084
ENSG00000003147	ENST00000396675	A0A024RA29
ENSG00000003147	ENST00000401396	E9PDL4
ENSG00000003147	ENST00000402384	Q05084
ENSG00000003147	ENST00000402384	A0A024RA29
ENSG00000003147	ENST00000406470	Q05084
ENSG00000003147	ENST00000406470	A0A024RA29
ENSG00000003147	ENST00000407906	E7ENI6
ENSG00000003147	ENST00000422063	Q05084
ENSG00000003147	ENST00000430867	C9J8Y3
ENSG00000003147	ENST00000446305	C9IZC7
ENSG00000003147	ENST00000447326	C9J3Y4
ENSG00000003147	ENST00000455539	Q6LCT9
ENSG00000003147	ENST00000457755	F8WET5
ENSG00000003147	ENST00000650486	A0A3B3IST8

Expression (GTEx)

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

Pathway	Source	External ID
Type I diabetes mellitus	KEGG	ko04940
Type I diabetes mellitus	KEGG	hsa04940

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA166131379	o-desmethyltramadol	Chemical	ClinicalAnnotation	associated	PK		30971809
PA451735	tramadol	Chemical	ClinicalAnnotation	associated	PK		30971809

References

Pubmed ID	Year	Title	Citations
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
20526340	2010	Common variants in FOXP1 are associated with generalized vitiligo.	27
18187231	2008	ICA69 is a novel Rab2 effector regulating ER-Golgi trafficking in insulinoma cells.	24
20962850	2011	A targeted association study in systemic lupus erythematosus identifies multiple susceptibility alleles.	21
23836780	2013	Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus.	15
12409289	2003	Alternative core promoters regulate tissue-specific transcription from the autoimmune diabetes-related ICA1 (ICA69) gene locus.	7
22447927	2012	Sequence 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.	7
24358315	2013	C-terminal domain of ICA69 interacts with PICK1 and acts on trafficking of PICK1-PKCα complex and cerebellar plasticity.	7
31478943	2020	Novel SRF-ICA1L Fusions in Cellular Myoid Neoplasms With Potential For Malignant Behavior.	0

Citation

Dessen P

ICA1 (islet cell autoantigen 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64489/ica1