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

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
320
Gene nameGene Name - the full gene name approved by the HGNC.
Amyloid beta precursor protein binding family A member 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
APBA1
SynonymsGene synonyms aliases
D9S411E, LIN10, MINT1, X11, X11A, X11ALPHA
ChromosomeChromosome number
9
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q21.12
SummarySummary 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
MNHLEGSAEVEVTDEAAGGEVNESVEADLEHPEVEEEQQQPPQQQHYVGRHQRGRALEDL
RAQLGQEEEERGECLARSASTESGFHNHTDTAEGDVIAAARDGYDAERAQDPEDESAYAV
QYRPEAEEYTEQAEAEHAEATHRRALPNHLHFHSLEHEEAMNAAYSGYVYTHRLFHRGED
EPYSEPYADYGGLQEHVYEEIGDAPELDARDGLRLYEQERDEAAAYRQEALGARLHHYDE
RSDGESDSPEKEAEFAPYPRMDSYEQEEDIDQIVAEVKQSMSSQSLDKAAEDMPEAEQDL
ERPPTPAGGRPDSPGLQAPAGQQRAVGPAGGGEAGQRYSKEKRDAISLAIKDIKEAIEEV
KTRTIRSPYTPDEPKEPIWVMRQDISPTRDCDDQRPMDGDSPSPGSSSPLGAESSSTSLH
PSDPVEASTNKESRKSLASFPTYVEVPGPCDPEDLIDGIIFAANYLGSTQLLSDKTPSKN
VRMMQAQEAVSRIKMAQKLAKSRKKAPEGESQPMTEVDLFISTQRIKVLNADTQETMMDH
PLRTISYIADIGNIVVLMARRRMPRSNSQENVEASHPSQDGKRQYKMICHVFESEDAQLI
AQSIGQAFSVAYQEFLRA
NGINPEDLSQKEYSDLLNTQDMYNDDLIHFSKSENCKDVFIE
KQKGEILGVVIVESGWGSILPTVIIANMMHGGPAEKSGKLNIGDQIMSINGTSLVGLPLS
TCQSIIKGLKNQSRVKLNIV
RCPPVTTVLIRRPDLRYQLGFSVQNGIICSLMRGGIAERG
GVRVGHRIIEINGQSVVATPHEKIVHILSNAVGEIHMKTM
PAAMYRLLTAQEQPVYI
Sequence length 837
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    Dopamine Neurotransmitter Release Cycle
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Schizophrenia Schizophrenia rs74315508, rs74315509, rs13447324, rs1558507406, 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 31374203

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