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Protein

Amyloid-beta A4 precursor protein-binding family A member 1

Gene

APBA1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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.

GO - Molecular functioni

GO - Biological processi

  • axo-dendritic transport Source: ProtInc
  • cell adhesion Source: ProtInc
  • chemical synaptic transmission Source: ProtInc
  • 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
  • neurotransmitter secretion Source: Reactome
  • protein-containing complex assembly Source: ProtInc
  • regulation of gene expression Source: Ensembl

Keywordsi

Biological processProtein transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-212676 Dopamine Neurotransmitter Release Cycle
R-HSA-6794361 Neurexins and neuroligins

Names & Taxonomyi

Protein namesi
Recommended name:
Amyloid-beta A4 precursor protein-binding family A member 1
Alternative 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000107282.7
HGNCiHGNC:578 APBA1
MIMi602414 gene
neXtProtiNX_Q02410

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Golgi apparatus, Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi608F → V: Diminishes interaction with APP. 1 Publication1

Organism-specific databases

DisGeNETi320
OpenTargetsiENSG00000107282
PharmGKBiPA24869

Polymorphism and mutation databases

BioMutaiAPBA1
DMDMi116241250

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000646141 – 837Amyloid-beta A4 precursor protein-binding family A member 1Add BLAST837

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei78PhosphoserineBy similarity1
Modified residuei242PhosphoserineBy similarity1
Modified residuei246PhosphoserineBy similarity1
Modified residuei248PhosphoserineCombined sources1
Modified residuei263PhosphoserineCombined sources1
Modified residuei280PhosphoserineBy similarity1
Modified residuei285PhosphoserineBy similarity1
Modified residuei305PhosphothreonineCombined sources1
Modified residuei313PhosphoserineBy similarity1
Modified residuei367PhosphoserineBy similarity1
Modified residuei370PhosphothreonineCombined sources1
Modified residuei401PhosphoserineBy similarity1
Modified residuei403PhosphoserineBy similarity1
Modified residuei408PhosphoserineBy similarity1
Modified residuei568PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ02410
PaxDbiQ02410
PeptideAtlasiQ02410
PRIDEiQ02410
ProteomicsDBi58088

PTM databases

iPTMnetiQ02410
PhosphoSitePlusiQ02410

Expressioni

Tissue specificityi

Brain and spinal cord. Isoform 2 is expressed in testis and brain, but not detected in lung, liver or spleen.1 Publication

Gene expression databases

BgeeiENSG00000107282
CleanExiHS_APBA1
ExpressionAtlasiQ02410 baseline and differential
GenevisibleiQ02410 HS

Organism-specific databases

HPAiHPA061287

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. 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.2 Publications

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi106817, 14 interactors
CORUMiQ02410
ELMiQ02410
IntActiQ02410, 11 interactors
MINTiQ02410
STRINGi9606.ENSP00000265381

Structurei

Secondary structure

1837
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Turni455 – 457Combined sources3
Beta strandi459 – 472Combined sources14
Helixi479 – 498Combined sources20
Beta strandi516 – 521Combined sources6
Beta strandi523 – 530Combined sources8
Turni531 – 533Combined sources3
Beta strandi536 – 541Combined sources6
Helixi542 – 544Combined sources3
Beta strandi545 – 551Combined sources7
Beta strandi554 – 559Combined sources6
Beta strandi586 – 593Combined sources8
Helixi597 – 616Combined sources20
Beta strandi655 – 660Combined sources6
Beta strandi669 – 672Combined sources4
Beta strandi676 – 679Combined sources4
Beta strandi684 – 688Combined sources5
Beta strandi690 – 692Combined sources3
Helixi693 – 697Combined sources5
Beta strandi705 – 709Combined sources5
Helixi719 – 727Combined sources9
Beta strandi730 – 740Combined sources11
Beta strandi746 – 756Combined sources11
Beta strandi760 – 764Combined sources5
Beta strandi767 – 771Combined sources5
Helixi777 – 780Combined sources4
Beta strandi786 – 788Combined sources3
Helixi796 – 798Combined sources3
Helixi801 – 809Combined sources9
Beta strandi813 – 821Combined sources9

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1AQCX-ray2.30A/B453-623[»]
1U37NMR-A655-741[»]
1U38NMR-A655-741[»]
1U39NMR-A743-822[»]
1U3BNMR-A655-837[»]
1X11X-ray2.50A/B453-623[»]
1X45NMR-A656-740[»]
1Y7NNMR-A745-823[»]
ProteinModelPortaliQ02410
SMRiQ02410
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ02410

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini457 – 643PIDPROSITE-ProRule annotationAdd BLAST187
Domaini656 – 742PDZ 1PROSITE-ProRule annotationAdd BLAST87
Domaini747 – 822PDZ 2PROSITE-ProRule annotationAdd BLAST76

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni226 – 314Munc-18-1 bindingAdd BLAST89
Regioni373 – 436LIN-2/CASK bindingAdd BLAST64
Regioni626 – 641Autoinhibitory helix linkerBy similarityAdd BLAST16

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi67 – 70Poly-Glu4
Compositional biasi294 – 328Pro-richAdd BLAST35
Compositional biasi368 – 452Pro-richAdd BLAST85

Domaini

Composed of an N-terminal domain that binds Munc18-1 and LIN-2/CASK, a middle phosphotyrosine-binding domain (PID/PTB) that mediates binding with the cytoplasmic domain of the amyloid-beta precursor protein, and two C-terminal PDZ domains thought to attach proteins to the plasma membrane.
The autoinhibitory helix linker occludes the APP binding site.By similarity
The PID domain, truncated by 11 amino acids, as observed in isoform 2, but not full-length, mediates the interaction with RAB6A and RAB6B.1 Publication

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG3605 Eukaryota
ENOG410XSBD LUCA
GeneTreeiENSGT00390000013578
HOGENOMiHOG000033981
HOVERGENiHBG050523
InParanoidiQ02410
KOiK04531
OMAiAYSGYVY
OrthoDBiEOG091G0PDJ
PhylomeDBiQ02410
TreeFamiTF315245

Family and domain databases

Gene3Di2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR030530 Apba1
IPR001478 PDZ
IPR036034 PDZ_sf
IPR011993 PH-like_dom_sf
IPR006020 PTB/PI_dom
PANTHERiPTHR12345:SF14 PTHR12345:SF14, 1 hit
PfamiView protein in Pfam
PF00595 PDZ, 2 hits
PF00640 PID, 1 hit
SMARTiView protein in SMART
SM00228 PDZ, 2 hits
SM00462 PTB, 1 hit
SUPFAMiSSF50156 SSF50156, 2 hits
PROSITEiView protein in PROSITE
PS50106 PDZ, 2 hits
PS01179 PID, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q02410-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:837
Mass (Da):92,865
Last modified:October 17, 2006 - v3
Checksum:i29C3620BBC89534B
GO
Isoform 2 (identifier: Q02410-2) [UniParc]FASTAAdd to basket
Also known as: Mint1_826

The sequence of this isoform differs from the canonical sequence as follows:
     495-505: Missing.

Note: This isoform interacts with RAB6 GTPases.
Show »
Length:826
Mass (Da):91,594
Checksum:iDD7B6C1C6D3D9FE7
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti164A → V in AAA61307 (PubMed:7678331).Curated1
Sequence conflicti208D → H in AAC05304 (PubMed:9395480).Curated1
Sequence conflicti427 – 429AST → VPI in AAC05304 (PubMed:9395480).Curated3
Sequence conflicti427 – 429AST → VPI in AAA61307 (PubMed:7678331).Curated3
Sequence conflicti522S → L in AAC05304 (PubMed:9395480).Curated1
Sequence conflicti522S → L in AAA61307 (PubMed:7678331).Curated1
Sequence conflicti563M → I in AAC05304 (PubMed:9395480).Curated1
Sequence conflicti563M → I in AAA61307 (PubMed:7678331).Curated1
Sequence conflicti730K → E in AAC05304 (PubMed:9395480).Curated1
Sequence conflicti730K → E in AAA61307 (PubMed:7678331).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_050664184S → A. Corresponds to variant dbSNP:rs34788368Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_053518495 – 505Missing in isoform 2. CuratedAdd BLAST11

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
CCDSiCCDS6630.1 [Q02410-1]
PIRiA47176
RefSeqiNP_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]
UniGeneiHs.171939
Hs.592974

Genome annotation databases

EnsembliENST00000265381; ENSP00000265381; ENSG00000107282 [Q02410-1]
GeneIDi320
KEGGihsa:320
UCSCiuc004ahh.3 human [Q02410-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiAPBA1_HUMAN
AccessioniPrimary (citable) accession number: Q02410
Secondary accession number(s): O14914, O60570, Q5VYR8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: October 17, 2006
Last modified: June 20, 2018
This is version 169 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references

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