Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
320
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Amyloid beta precursor protein binding family A member 1 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
APBA1 |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
D9S411E, LIN10, MINT1, X11, X11A, X11ALPHA |
Chromosome
Chromosome number
|
9 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
9q21.12 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer`s disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments in |
UniProt ID |
Q02410
|
Protein name |
Amyloid-beta A4 precursor protein-binding family A member 1 (Adapter protein X11alpha) (Neuron-specific X11 protein) (Neuronal Munc18-1-interacting protein 1) (Mint-1) |
Protein function |
Putative function in synaptic vesicle exocytosis by binding to Munc18-1, an essential component of the synaptic vesicle exocytotic machinery. May modulate processing of the amyloid-beta precursor protein (APP) and hence formation of APP-beta. Co |
PDB |
1AQC
,
1U37
,
1U38
,
1U39
,
1U3B
,
1X11
,
1X45
,
1Y7N
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00640
|
PID |
461 → 618 |
Phosphotyrosine interaction domain (PTB/PID) |
Domain |
PF00595
|
PDZ |
656 → 740 |
PDZ domain |
Domain |
PF00595
|
PDZ |
747 → 820 |
PDZ domain |
Domain |
|
Tissue specificity |
TISSUE SPECIFICITY: Brain and spinal cord. Isoform 2 is expressed in testis and brain, but not detected in lung, liver or spleen. {ECO:0000269|PubMed:23737971}. |
Sequence |
|
Sequence length |
837 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Schizophrenia |
Schizophrenia |
rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 View all (12 more) |
31374203 |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Adenoma |
Associate
|
12598316, 34092617 |
Adenoma |
Stimulate
|
27771773 |
Alzheimer Disease |
Associate
|
22355143, 26417591, 27046643 |
Cholangiocarcinoma |
Associate
|
12213730 |
Colorectal Neoplasms |
Associate
|
12569385, 17947473, 18834226, 19737982, 29869456, 34092617 |
Inflammation |
Associate
|
28640909 |
Neoplasms |
Associate
|
17510312, 18843024, 19223509, 19737982, 21625944, 26098903 |
Polyps |
Associate
|
11839573, 15016754 |
Salivary Gland Neoplasms |
Associate
|
20520817 |
Urinary Bladder Neoplasms |
Associate
|
18843024 |
|