Gene
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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT719460 hsa-miR-132-3p HITS-CLIP 19536157
MIRT719459 hsa-miR-212-3p HITS-CLIP 19536157
MIRT719458 hsa-miR-2114-5p HITS-CLIP 19536157
MIRT719457 hsa-miR-1470 HITS-CLIP 19536157
MIRT719456 hsa-miR-4667-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001540 Function Amyloid-beta binding IBA 21873635
GO:0001701 Process In utero embryonic development IEA
GO:0005515 Function Protein binding IPI 8887653, 11083918, 16007100, 20531236, 31413325
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602414 578 ENSG00000107282
Protein
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
MNHLEGSAEVEVTDEAAGGEVNESVEADLEHPEVEEEQQQPPQQQHYVGRHQRGRALEDL
RAQLGQEEEERGECLARSASTESGFHNHTDTAEGDVIAAARDGYDAERAQDPEDESAYAV
QYRPEAEEYTEQAEAEHAEATHRRALPNHLHFHSLEHEEAMNAAYSGYVYTHRLFHRGED
EPYSEPYADYGGLQEHVYEEIGDAPELDARDGLRLYEQERDEAAAYRQEALGARLHHYDE
RSDGESDSPEKEAEFAPYPRMDSYEQEEDIDQIVAEVKQSMSSQSLDKAAEDMPEAEQDL
ERPPTPAGGRPDSPGLQAPAGQQRAVGPAGGGEAGQRYSKEKRDAISLAIKDIKEAIEEV
KTRTIRSPYTPDEPKEPIWVMRQDISPTRDCDDQRPMDGDSPSPGSSSPLGAESSSTSLH
PSDPVEASTNKESRKSLASFPTYVEVPGPCDPEDLIDGIIFAANYLGSTQLLSDKTPSKN
VRMMQAQEAVSRIKMAQKLAKSRKKAPEGESQPMTEVDLFISTQRIKVLNADTQETMMDH
PLRTISYIADIGNIVVLMARRRMPRSNSQENVEASHPSQDGKRQYKMICHVFESEDAQLI
AQSIGQAFSVAYQEFLRA
NGINPEDLSQKEYSDLLNTQDMYNDDLIHFSKSENCKDVFIE
KQKGEILGVVIVESGWGSILPTVIIANMMHGGPAEKSGKLNIGDQIMSINGTSLVGLPLS
TCQSIIKGLKNQSRVKLNIV
RCPPVTTVLIRRPDLRYQLGFSVQNGIICSLMRGGIAERG
GVRVGHRIIEINGQSVVATPHEKIVHILSNAVGEIHMKTM
PAAMYRLLTAQEQPVYI
Sequence length 837
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Dopamine Neurotransmitter Release Cycle
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
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
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