UniProtKB - Q02410 (APBA1_HUMAN)
Amyloid-beta A4 precursor protein-binding family A member 1
APBA1
Functioni
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. Component of the LIN-10-LIN-2-LIN-7 complex, which associates with the motor protein KIF17 to transport vesicles containing N-methyl-D-aspartate (NMDA) receptor subunit NR2B along microtubules (By similarity).
By similarityGO - Molecular functioni
- amyloid-beta binding Source: GO_Central
GO - Biological processi
- axo-dendritic transport Source: ProtInc
- cell adhesion Source: ProtInc
- chemical synaptic transmission Source: GO_Central
- gamma-aminobutyric acid secretion Source: Ensembl
- glutamate secretion Source: Ensembl
- intracellular protein transport Source: ProtInc
- in utero embryonic development Source: Ensembl
- locomotory behavior Source: Ensembl
- multicellular organism growth Source: Ensembl
- nervous system development Source: ProtInc
- protein-containing complex assembly Source: ProtInc
- regulation of gene expression Source: Ensembl
- regulation of synaptic vesicle exocytosis Source: Ensembl
Keywordsi
Biological process | Protein transport, Transport |
Enzyme and pathway databases
PathwayCommonsi | Q02410 |
Reactomei | R-HSA-212676, Dopamine Neurotransmitter Release Cycle R-HSA-6794361, Neurexins and neuroligins R-HSA-9609736, Assembly and cell surface presentation of NMDA receptors |
SignaLinki | Q02410 |
SIGNORi | Q02410 |
Protein family/group databases
TCDBi | 8.A.24.2.2, the ezrin/radixin/moesin-binding phosphoprotein 50 (ebp50) family |
Names & Taxonomyi
Protein namesi | Recommended name: Amyloid-beta A4 precursor protein-binding family A member 1Alternative name(s): Adapter protein X11alpha Neuron-specific X11 protein Neuronal Munc18-1-interacting protein 1 Short name: Mint-1 |
Gene namesi | Name:APBA1 Synonyms:MINT1, X11 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:578, APBA1 |
MIMi | 602414, gene |
neXtProti | NX_Q02410 |
VEuPathDBi | HostDB:ENSG00000107282 |
Subcellular locationi
Cytoplasm and Cytosol
- Cytoplasm 1 Publication
Nucleus
- Nucleus 1 Publication
Other locations
- perinuclear region 1 Publication
Note: Only about 5% of the protein is located in the nucleus.
Golgi apparatus
- Golgi apparatus 1 Publication
Cytosol
- cytosol Source: Reactome
Golgi apparatus
- Golgi apparatus Source: HPA
Nucleus
- nucleus Source: UniProtKB-SubCell
Plasma Membrane
- plasma membrane Source: GO_Central
- presynaptic active zone membrane Source: Ensembl
Other locations
- cytoplasm Source: GO_Central
- dendritic spine Source: GO_Central
- glutamatergic synapse Source: Ensembl
- perinuclear region of cytoplasm Source: UniProtKB-SubCell
- Schaffer collateral - CA1 synapse Source: Ensembl
- synaptic vesicle Source: ProtInc
Keywords - Cellular componenti
Cytoplasm, Golgi apparatus, NucleusPathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 608 | F → V: Diminishes interaction with APP. 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 320 |
OpenTargetsi | ENSG00000107282 |
PharmGKBi | PA24869 |
Miscellaneous databases
Pharosi | Q02410, Tbio |
Genetic variation databases
BioMutai | APBA1 |
DMDMi | 116241250 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000064614 | 1 – 837 | Amyloid-beta A4 precursor protein-binding family A member 1Add BLAST | 837 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 78 | PhosphoserineBy similarity | 1 | |
Modified residuei | 242 | PhosphoserineBy similarity | 1 | |
Modified residuei | 246 | PhosphoserineBy similarity | 1 | |
Modified residuei | 248 | PhosphoserineCombined sources | 1 | |
Modified residuei | 263 | PhosphoserineCombined sources | 1 | |
Modified residuei | 280 | PhosphoserineBy similarity | 1 | |
Modified residuei | 285 | PhosphoserineBy similarity | 1 | |
Modified residuei | 305 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 313 | PhosphoserineBy similarity | 1 | |
Modified residuei | 367 | PhosphoserineBy similarity | 1 | |
Modified residuei | 370 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 401 | PhosphoserineBy similarity | 1 | |
Modified residuei | 403 | PhosphoserineBy similarity | 1 | |
Modified residuei | 408 | PhosphoserineBy similarity | 1 | |
Modified residuei | 568 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
jPOSTi | Q02410 |
MassIVEi | Q02410 |
PaxDbi | Q02410 |
PeptideAtlasi | Q02410 |
PRIDEi | Q02410 |
ProteomicsDBi | 58088 [Q02410-1] |
PTM databases
iPTMneti | Q02410 |
PhosphoSitePlusi | Q02410 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000107282, Expressed in dorsolateral prefrontal cortex and 135 other tissues |
ExpressionAtlasi | Q02410, baseline and differential |
Genevisiblei | Q02410, HS |
Organism-specific databases
HPAi | ENSG00000107282, Tissue enhanced (brain) |
Interactioni
Subunit structurei
Part of a multimeric complex containing Munc18-1 and syntaxin-1. Also part of the brain-specific heterotrimeric complex LIN-10/X11-alpha, LIN-2/CASK, and LIN7.
Component of the brain-specific heterotrimeric complex (LIN-10-LIN-2-LIN-7 complex) composed of at least APBA1, CASK, and LIN7, which associates with the motor protein KIF17 to transport vesicles along microtubules (By similarity). Within the complex, interacts (via PDZ domain) with the motor protein KIF17; the interaction is direct and is required for association of KIF17 with the cargo that is to be transported (By similarity). Both isoform 1 and isoform 2 bind to the cytoplasmic domain of amyloid protein (APP).
Interacts (via PDZ 1 and 2 domains) with FSPB. Isoform 2, but not isoform 1, interacts (via its truncated PID domain) with active, GTP-bound RAB6A and RAB6B.
By similarity2 PublicationsBinary interactionsi
Q02410
With | #Exp. | IntAct |
---|---|---|
APP [P05067] | 4 | EBI-368690,EBI-77613 |
PSEN1 [P49768] | 4 | EBI-368690,EBI-297277 |
Isoform 2 [Q02410-2]
With | #Exp. | IntAct |
---|---|---|
RAB6A - isoform 1 [P20340-1] | 4 | EBI-9247455,EBI-8851226 |
RAB6B [Q9NRW1] | 4 | EBI-9247455,EBI-1760079 |
Protein-protein interaction databases
BioGRIDi | 106817, 94 interactors |
CORUMi | Q02410 |
ELMi | Q02410 |
IntActi | Q02410, 14 interactors |
MINTi | Q02410 |
STRINGi | 9606.ENSP00000265381 |
Miscellaneous databases
RNActi | Q02410, protein |
Structurei
Secondary structure
3D structure databases
BMRBi | Q02410 |
SMRi | Q02410 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q02410 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 457 – 643 | PIDPROSITE-ProRule annotationAdd BLAST | 187 | |
Domaini | 656 – 742 | PDZ 1PROSITE-ProRule annotationAdd BLAST | 87 | |
Domaini | 747 – 822 | PDZ 2PROSITE-ProRule annotationAdd BLAST | 76 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 93 | DisorderedSequence analysisAdd BLAST | 93 | |
Regioni | 226 – 314 | Munc-18-1 bindingAdd BLAST | 89 | |
Regioni | 238 – 342 | DisorderedSequence analysisAdd BLAST | 105 | |
Regioni | 358 – 435 | DisorderedSequence analysisAdd BLAST | 78 | |
Regioni | 373 – 436 | LIN-2/CASK bindingAdd BLAST | 64 | |
Regioni | 626 – 641 | Autoinhibitory helix linkerBy similarityAdd BLAST | 16 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 51 – 76 | Basic and acidic residuesSequence analysisAdd BLAST | 26 | |
Compositional biasi | 238 – 274 | Basic and acidic residuesSequence analysisAdd BLAST | 37 | |
Compositional biasi | 400 – 435 | Polar residuesSequence analysisAdd BLAST | 36 |
Domaini
Keywords - Domaini
RepeatPhylogenomic databases
eggNOGi | KOG3605, Eukaryota |
GeneTreei | ENSGT00940000156820 |
HOGENOMi | CLU_013563_1_0_1 |
InParanoidi | Q02410 |
OMAi | DCEDQRP |
OrthoDBi | 436779at2759 |
PhylomeDBi | Q02410 |
TreeFami | TF315245 |
Family and domain databases
Gene3Di | 2.30.29.30, 1 hit 2.30.42.10, 2 hits |
IDEALi | IID00561 |
InterProi | View protein in InterPro IPR030530, Apba1 IPR001478, PDZ IPR036034, PDZ_sf IPR011993, PH-like_dom_sf IPR006020, PTB/PI_dom |
PANTHERi | PTHR12345:SF14, PTHR12345:SF14, 1 hit |
Pfami | View protein in Pfam PF00595, PDZ, 2 hits PF00640, PID, 1 hit |
SMARTi | View protein in SMART SM00228, PDZ, 2 hits SM00462, PTB, 1 hit |
SUPFAMi | SSF50156, SSF50156, 2 hits |
PROSITEi | View protein in PROSITE PS50106, PDZ, 2 hits PS01179, PID, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MNHLEGSAEV EVTDEAAGGE VNESVEADLE HPEVEEEQQQ PPQQQHYVGR
60 70 80 90 100
HQRGRALEDL RAQLGQEEEE RGECLARSAS TESGFHNHTD TAEGDVIAAA
110 120 130 140 150
RDGYDAERAQ DPEDESAYAV QYRPEAEEYT EQAEAEHAEA THRRALPNHL
160 170 180 190 200
HFHSLEHEEA MNAAYSGYVY THRLFHRGED EPYSEPYADY GGLQEHVYEE
210 220 230 240 250
IGDAPELDAR DGLRLYEQER DEAAAYRQEA LGARLHHYDE RSDGESDSPE
260 270 280 290 300
KEAEFAPYPR MDSYEQEEDI DQIVAEVKQS MSSQSLDKAA EDMPEAEQDL
310 320 330 340 350
ERPPTPAGGR PDSPGLQAPA GQQRAVGPAG GGEAGQRYSK EKRDAISLAI
360 370 380 390 400
KDIKEAIEEV KTRTIRSPYT PDEPKEPIWV MRQDISPTRD CDDQRPMDGD
410 420 430 440 450
SPSPGSSSPL GAESSSTSLH PSDPVEASTN KESRKSLASF PTYVEVPGPC
460 470 480 490 500
DPEDLIDGII FAANYLGSTQ LLSDKTPSKN VRMMQAQEAV SRIKMAQKLA
510 520 530 540 550
KSRKKAPEGE SQPMTEVDLF ISTQRIKVLN ADTQETMMDH PLRTISYIAD
560 570 580 590 600
IGNIVVLMAR RRMPRSNSQE NVEASHPSQD GKRQYKMICH VFESEDAQLI
610 620 630 640 650
AQSIGQAFSV AYQEFLRANG INPEDLSQKE YSDLLNTQDM YNDDLIHFSK
660 670 680 690 700
SENCKDVFIE KQKGEILGVV IVESGWGSIL PTVIIANMMH GGPAEKSGKL
710 720 730 740 750
NIGDQIMSIN GTSLVGLPLS TCQSIIKGLK NQSRVKLNIV RCPPVTTVLI
760 770 780 790 800
RRPDLRYQLG FSVQNGIICS LMRGGIAERG GVRVGHRIIE INGQSVVATP
810 820 830
HEKIVHILSN AVGEIHMKTM PAAMYRLLTA QEQPVYI
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A0D9SFA9 | A0A0D9SFA9_HUMAN | Amyloid-beta A4 precursor protein-b... | APBA1 | 122 | Annotation score: | ||
A0A0G2JMD7 | A0A0G2JMD7_HUMAN | Amyloid-beta A4 precursor protein-b... | APBA1 | 437 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 164 | A → V in AAA61307 (PubMed:7678331).Curated | 1 | |
Sequence conflicti | 208 | D → H in AAC05304 (PubMed:9395480).Curated | 1 | |
Sequence conflicti | 427 – 429 | AST → VPI in AAC05304 (PubMed:9395480).Curated | 3 | |
Sequence conflicti | 427 – 429 | AST → VPI in AAA61307 (PubMed:7678331).Curated | 3 | |
Sequence conflicti | 522 | S → L in AAC05304 (PubMed:9395480).Curated | 1 | |
Sequence conflicti | 522 | S → L in AAA61307 (PubMed:7678331).Curated | 1 | |
Sequence conflicti | 563 | M → I in AAC05304 (PubMed:9395480).Curated | 1 | |
Sequence conflicti | 563 | M → I in AAA61307 (PubMed:7678331).Curated | 1 | |
Sequence conflicti | 730 | K → E in AAC05304 (PubMed:9395480).Curated | 1 | |
Sequence conflicti | 730 | K → E in AAA61307 (PubMed:7678331).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_050664 | 184 | S → A. Corresponds to variant dbSNP:rs34788368Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_053518 | 495 – 505 | Missing in isoform 2. CuratedAdd BLAST | 11 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF029106 mRNA Translation: AAC05304.1 AF047347 mRNA Translation: AAC39766.1 AL353693 Genomic DNA No translation available. AL355140 Genomic DNA No translation available. L04953 mRNA Translation: AAA61307.1 |
CCDSi | CCDS6630.1 [Q02410-1] |
PIRi | A47176 |
RefSeqi | NP_001154.2, NM_001163.3 [Q02410-1] XP_005252025.1, XM_005251968.3 [Q02410-2] XP_011516919.1, XM_011518617.2 [Q02410-1] XP_016870159.1, XM_017014670.1 [Q02410-1] |
Genome annotation databases
Ensembli | ENST00000265381; ENSP00000265381; ENSG00000107282 |
GeneIDi | 320 |
KEGGi | hsa:320 |
MANE-Selecti | ENST00000265381.7; ENSP00000265381.3; NM_001163.4; NP_001154.2 |
UCSCi | uc004ahh.3, human [Q02410-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF029106 mRNA Translation: AAC05304.1 AF047347 mRNA Translation: AAC39766.1 AL353693 Genomic DNA No translation available. AL355140 Genomic DNA No translation available. L04953 mRNA Translation: AAA61307.1 |
CCDSi | CCDS6630.1 [Q02410-1] |
PIRi | A47176 |
RefSeqi | NP_001154.2, NM_001163.3 [Q02410-1] XP_005252025.1, XM_005251968.3 [Q02410-2] XP_011516919.1, XM_011518617.2 [Q02410-1] XP_016870159.1, XM_017014670.1 [Q02410-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1AQC | X-ray | 2.30 | A/B | 453-623 | [»] | |
1U37 | NMR | - | A | 655-741 | [»] | |
1U38 | NMR | - | A | 655-741 | [»] | |
1U39 | NMR | - | A | 743-822 | [»] | |
1U3B | NMR | - | A | 655-837 | [»] | |
1X11 | X-ray | 2.50 | A/B | 453-623 | [»] | |
1X45 | NMR | - | A | 656-740 | [»] | |
1Y7N | NMR | - | A | 745-823 | [»] | |
BMRBi | Q02410 | |||||
SMRi | Q02410 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 106817, 94 interactors |
CORUMi | Q02410 |
ELMi | Q02410 |
IntActi | Q02410, 14 interactors |
MINTi | Q02410 |
STRINGi | 9606.ENSP00000265381 |
Protein family/group databases
TCDBi | 8.A.24.2.2, the ezrin/radixin/moesin-binding phosphoprotein 50 (ebp50) family |
PTM databases
iPTMneti | Q02410 |
PhosphoSitePlusi | Q02410 |
Genetic variation databases
BioMutai | APBA1 |
DMDMi | 116241250 |
Proteomic databases
jPOSTi | Q02410 |
MassIVEi | Q02410 |
PaxDbi | Q02410 |
PeptideAtlasi | Q02410 |
PRIDEi | Q02410 |
ProteomicsDBi | 58088 [Q02410-1] |
Protocols and materials databases
Antibodypediai | 12360, 214 antibodies from 38 providers |
DNASUi | 320 |
Genome annotation databases
Ensembli | ENST00000265381; ENSP00000265381; ENSG00000107282 |
GeneIDi | 320 |
KEGGi | hsa:320 |
MANE-Selecti | ENST00000265381.7; ENSP00000265381.3; NM_001163.4; NP_001154.2 |
UCSCi | uc004ahh.3, human [Q02410-1] |
Organism-specific databases
CTDi | 320 |
DisGeNETi | 320 |
GeneCardsi | APBA1 |
HGNCi | HGNC:578, APBA1 |
HPAi | ENSG00000107282, Tissue enhanced (brain) |
MIMi | 602414, gene |
neXtProti | NX_Q02410 |
OpenTargetsi | ENSG00000107282 |
PharmGKBi | PA24869 |
VEuPathDBi | HostDB:ENSG00000107282 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3605, Eukaryota |
GeneTreei | ENSGT00940000156820 |
HOGENOMi | CLU_013563_1_0_1 |
InParanoidi | Q02410 |
OMAi | DCEDQRP |
OrthoDBi | 436779at2759 |
PhylomeDBi | Q02410 |
TreeFami | TF315245 |
Enzyme and pathway databases
PathwayCommonsi | Q02410 |
Reactomei | R-HSA-212676, Dopamine Neurotransmitter Release Cycle R-HSA-6794361, Neurexins and neuroligins R-HSA-9609736, Assembly and cell surface presentation of NMDA receptors |
SignaLinki | Q02410 |
SIGNORi | Q02410 |
Miscellaneous databases
BioGRID-ORCSi | 320, 11 hits in 1043 CRISPR screens |
ChiTaRSi | APBA1, human |
EvolutionaryTracei | Q02410 |
GeneWikii | APBA1 |
GenomeRNAii | 320 |
Pharosi | Q02410, Tbio |
PROi | PR:Q02410 |
RNActi | Q02410, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000107282, Expressed in dorsolateral prefrontal cortex and 135 other tissues |
ExpressionAtlasi | Q02410, baseline and differential |
Genevisiblei | Q02410, HS |
Family and domain databases
Gene3Di | 2.30.29.30, 1 hit 2.30.42.10, 2 hits |
IDEALi | IID00561 |
InterProi | View protein in InterPro IPR030530, Apba1 IPR001478, PDZ IPR036034, PDZ_sf IPR011993, PH-like_dom_sf IPR006020, PTB/PI_dom |
PANTHERi | PTHR12345:SF14, PTHR12345:SF14, 1 hit |
Pfami | View protein in Pfam PF00595, PDZ, 2 hits PF00640, PID, 1 hit |
SMARTi | View protein in SMART SM00228, PDZ, 2 hits SM00462, PTB, 1 hit |
SUPFAMi | SSF50156, SSF50156, 2 hits |
PROSITEi | View protein in PROSITE PS50106, PDZ, 2 hits PS01179, PID, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | APBA1_HUMAN | |
Accessioni | Q02410Primary (citable) accession number: Q02410 Secondary accession number(s): O14914, O60570, Q5VYR8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 1, 1996 |
Last sequence update: | October 17, 2006 | |
Last modified: | February 23, 2022 | |
This is version 192 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 9
Human chromosome 9: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references