APBA1 (amyloid beta precursor protein binding family A member 1)

2014-11-01  

Identity

HGNC
APBA1
LOCATION
9q21.12
LOCUSID
320
ALIAS
D9S411E,LIN10,MINT1,X11,X11A,X11ALPHA
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 320
MIM: 602414
HGNC: 578
Ensembl: ENSG00000107282

Variants:

dbSNP: 320
ClinVar: 320
TCGA: ENSG00000107282
COSMIC: APBA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000107282ENST00000265381Q02410
ENSG00000107282ENST00000470082A0A0D9SFA9

Expression (GTEx)

0
10
20
30
40
50
60
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
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Neurotransmitter Release CycleREACTOMER-HSA-112310
Dopamine Neurotransmitter Release CycleREACTOMER-HSA-212676
Protein-protein interactions at synapsesREACTOMER-HSA-6794362
Interactions of neurexins and neuroligins at synapsesREACTOMER-HSA-6794361

References

Pubmed IDYearTitleCitations
327939622021Status of Gene Methylation and Polymorphism in Different Courses of Ulcerative Colitis and Their Comparison with Sporadic Colorectal Cancer.0
344031152021RNA sequencing and functional studies of patient-derived cells reveal that neurexin-1 and regulators of this pathway are associated with poor outcomes in Ewing sarcoma.7
327939622021Status of Gene Methylation and Polymorphism in Different Courses of Ulcerative Colitis and Their Comparison with Sporadic Colorectal Cancer.0
344031152021RNA sequencing and functional studies of patient-derived cells reveal that neurexin-1 and regulators of this pathway are associated with poor outcomes in Ewing sarcoma.7
268652712016Multisite tyrosine phosphorylation of the N-terminus of Mint1/X11α by Src kinase regulates the trafficking of amyloid precursor protein.0
268652712016Multisite tyrosine phosphorylation of the N-terminus of Mint1/X11α by Src kinase regulates the trafficking of amyloid precursor protein.0
247426702014Mint proteins are required for synaptic activity-dependent amyloid precursor protein (APP) trafficking and amyloid β generation.0
247426702014Mint proteins are required for synaptic activity-dependent amyloid precursor protein (APP) trafficking and amyloid β generation.0
237379712013A new Mint1 isoform, but not the conventional Mint1, interacts with the small GTPase Rab6.5
237379712013A new Mint1 isoform, but not the conventional Mint1, interacts with the small GTPase Rab6.5
223551432012Autoinhibition of Mint1 adaptor protein regulates amyloid precursor protein binding and processing.12
223551432012Autoinhibition of Mint1 adaptor protein regulates amyloid precursor protein binding and processing.12
211782872011Signaling via amyloid precursor-like proteins APLP1 and APLP2.16
217636992011The molecular basis of the Caskin1 and Mint1 interaction with CASK.24
211782872011Signaling via amyloid precursor-like proteins APLP1 and APLP2.16

Citation

Dessen P

APBA1 (amyloid beta precursor protein binding family A member 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60414/apba1-(amyloid-beta-precursor-protein-binding-family-a-member-1)