AHI1 (Abelson helper integration site 1)

2012-12-01  

Identity

HGNC
AHI1
LOCATION
6q23.3
LOCUSID
54806
ALIAS
AHI-1,JBTS3,ORF1,dJ71N10.1

Other Information

Locus ID:

NCBI: 54806
MIM: 608894
HGNC: 21575
Ensembl: ENSG00000135541

Variants:

dbSNP: 54806
ClinVar: 54806
TCGA: ENSG00000135541
COSMIC: AHI1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000135541ENST00000265602Q8N157
ENSG00000135541ENST00000327035Q8N157
ENSG00000135541ENST00000367799H0Y343
ENSG00000135541ENST00000367800Q8N157
ENSG00000135541ENST00000457866Q8N157
ENSG00000135541ENST00000475846H0YEF1
ENSG00000135541ENST00000488690Q9NQN3
ENSG00000135541ENST00000524469E9PML3
ENSG00000135541ENST00000527681H0YDL1
ENSG00000135541ENST00000528103E9PI51
ENSG00000135541ENST00000529865H0YE01
ENSG00000135541ENST00000531788Q8N157
ENSG00000135541ENST00000534469E9PI51

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
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Anchoring of the basal body to the plasma membraneREACTOMER-HSA-5620912

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

References

Pubmed IDYearTitleCitations
380366612024Abelson Helper Integration Site 1 haplotypes and peripheral blood expression associates with lithium response and immunomodulation in bipolar patients.0
380366612024Abelson Helper Integration Site 1 haplotypes and peripheral blood expression associates with lithium response and immunomodulation in bipolar patients.0
341912362021Identification of a novel truncating variant in AHI1 gene and a brief review on mutations spectrum.2
341912362021Identification of a novel truncating variant in AHI1 gene and a brief review on mutations spectrum.2
317862072020Reduction of AHI1 in the serum of Taiwanese with probable Alzheimer's disease.4
323358742020[Genetic testing and prenatal diagnosis for two families affected with Joubert syndrome].0
317862072020Reduction of AHI1 in the serum of Taiwanese with probable Alzheimer's disease.4
323358742020[Genetic testing and prenatal diagnosis for two families affected with Joubert syndrome].0
294095972018The multiple sclerosis risk allele within the AHI1 gene is associated with relapses in children and adults.7
294966932018LINE-1 ORF1 Protein Is Up-regulated by Reactive Oxygen Species and Associated with Bladder Urothelial Carcinoma Progression.14
294095972018The multiple sclerosis risk allele within the AHI1 gene is associated with relapses in children and adults.7
294966932018LINE-1 ORF1 Protein Is Up-regulated by Reactive Oxygen Species and Associated with Bladder Urothelial Carcinoma Progression.14
283348502017Aicardi-Goutières syndrome protein TREX1 suppresses L1 and maintains genome integrity through exonuclease-independent ORF1p depletion.46
283618002017The product of the human AHI-1 (Abelson helper integration site) gene: experimental in vitro data point to its involvement in tumor cell invasion.0
283669332017A novel AHI-1-BCR-ABL-DNM2 complex regulates leukemic properties of primitive CML cells through enhanced cellular endocytosis and ROS-mediated autophagy.14

Citation

Dessen P

AHI1 (Abelson helper integration site 1)

Atlas Genet Cytogenet Oncol Haematol. 2012-12-01

Online version: http://atlasgeneticsoncology.org/gene/53090/ahi1-(abelson-helper-integration-site-1)