Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Amyloid beta A4 precursor protein-binding family A member 2

Gene

APBA2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Putative function in synaptic vesicle exocytosis by binding to STXBP1, an essential component of the synaptic vesicle exocytotic machinery. May modulate processing of the beta-amyloid precursor protein (APP) and hence formation of beta-APP.

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Protein transport, Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000034053-MONOMER.
ReactomeiR-HSA-6794361. Interactions of neurexins and neuroligins at synapses.

Names & Taxonomyi

Protein namesi
Recommended name:
Amyloid beta A4 precursor protein-binding family A member 2
Alternative name(s):
Adapter protein X11beta
Neuron-specific X11L protein
Neuronal Munc18-1-interacting protein 2
Short name:
Mint-2
Gene namesi
Name:APBA2
Synonyms:MINT2, X11L
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

HGNCiHGNC:579. APBA2.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

DisGeNETi321.
OpenTargetsiENSG00000034053.
ENSG00000276495.
PharmGKBiPA24870.

Polymorphism and mutation databases

BioMutaiAPBA2.
DMDMi6226950.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000646161 – 749Amyloid beta A4 precursor protein-binding family A member 2Add BLAST749

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei11PhosphoserineCombined sources1
Modified residuei208PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ99767.
PaxDbiQ99767.
PeptideAtlasiQ99767.
PRIDEiQ99767.

PTM databases

iPTMnetiQ99767.
PhosphoSitePlusiQ99767.

Expressioni

Tissue specificityi

Brain.

Gene expression databases

BgeeiENSG00000034053.
CleanExiHS_APBA2.
ExpressionAtlasiQ99767. baseline and differential.
GenevisibleiQ99767. HS.

Organism-specific databases

HPAiCAB037065.
HPA039400.

Interactioni

Subunit structurei

Part of a multimeric complex containing STXBP1 and syntaxin-1. Binds to the cytoplasmic domain of amyloid protein beta, and to the nuclear factor NF-kappa-B/p65 via its PDZ domain. Interacts with the N-terminal domain of APBA2BP.1 Publication

Protein-protein interaction databases

BioGridi106818. 27 interactors.
IntActiQ99767. 6 interactors.
MINTiMINT-3059769.
STRINGi9606.ENSP00000453144.

Structurei

3D structure databases

ProteinModelPortaliQ99767.
SMRiQ99767.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini368 – 555PIDPROSITE-ProRule annotationAdd BLAST188
Domaini568 – 654PDZ 1PROSITE-ProRule annotationAdd BLAST87
Domaini659 – 734PDZ 2PROSITE-ProRule annotationAdd BLAST76

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni185 – 270STXBP1-bindingAdd BLAST86

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi92 – 95Poly-Glu4

Domaini

Composed of an N-terminal domain that binds STXBP1, a middle phosphotyrosine-binding domain (PID/PTB) that mediates binding with the cytoplasmic domain of the beta-amyloid precursor protein, and two C-terminal PDZ domains thought to attach proteins to the plasma membrane.

Sequence similaritiesi

Contains 2 PDZ (DHR) domains.PROSITE-ProRule annotation
Contains 1 PID domain.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG3605. Eukaryota.
ENOG410XSBD. LUCA.
GeneTreeiENSGT00390000013578.
HOGENOMiHOG000033981.
HOVERGENiHBG050523.
InParanoidiQ99767.
KOiK20055.
OMAiRHEGRPK.
OrthoDBiEOG091G0PDJ.
PhylomeDBiQ99767.
TreeFamiTF315245.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
2.30.42.10. 2 hits.
InterProiIPR030529. Apba2.
IPR001478. PDZ.
IPR011993. PH_dom-like.
IPR006020. PTB/PI_dom.
[Graphical view]
PANTHERiPTHR12345:SF12. PTHR12345:SF12. 1 hit.
PfamiPF00595. PDZ. 2 hits.
PF00640. PID. 1 hit.
[Graphical view]
SMARTiSM00228. PDZ. 2 hits.
SM00462. PTB. 1 hit.
[Graphical view]
SUPFAMiSSF50156. SSF50156. 2 hits.
SSF50729. SSF50729. 1 hit.
PROSITEiPS50106. PDZ. 2 hits.
PS01179. PID. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q99767-1) [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
MAHRKLESVG SGMLDHRVRP GPVPHSQEPE SEDMELPLEG YVPEGLELAA
60 70 80 90 100
LRPESPAPEE QECHNHSPDG DSSSDYVNNT SEEEDYDEGL PEEEEGITYY
110 120 130 140 150
IRYCPEDDSY LEGMDCNGEE YLAHSAHPVD TDECQEAVEE WTDSAGPHPH
160 170 180 190 200
GHEAEGSQDY PDGQLPIPED EPSVLEAHDQ EEDGHYCASK EGYQDYYPEE
210 220 230 240 250
ANGNTGASPY RLRRGDGDLE DQEEDIDQIV AEIKMSLSMT SITSASEASP
260 270 280 290 300
EHGPEPGPED SVEACPPIKA SCSPSRHEAR PKSLNLLPEA KHPGDPQRGF
310 320 330 340 350
KPKTRTPEER LKWPHEQVCN GLEQPRKQQR SDLNGPVDNN NIPETKKVAS
360 370 380 390 400
FPSFVAVPGP CEPEDLIDGI IFAANYLGST QLLSERNPSK NIRMMQAQEA
410 420 430 440 450
VSRVKRMQKA AKIKKKANSE GDAQTLTEVD LFISTQRIKV LNADTQETMM
460 470 480 490 500
DHALRTISYI ADIGNIVVLM ARRRMPRSAS QDCIETTPGA QEGKKQYKMI
510 520 530 540 550
CHVFESEDAQ LIAQSIGQAF SVAYQEFLRA NGINPEDLSQ KEYSDIINTQ
560 570 580 590 600
EMYNDDLIHF SNSENCKELQ LEKHKGEILG VVVVESGWGS ILPTVILANM
610 620 630 640 650
MNGGPAARSG KLSIGDQIMS INGTSLVGLP LATCQGIIKG LKNQTQVKLN
660 670 680 690 700
IVSCPPVTTV LIKRPDLKYQ LGFSVQNGII CSLMRGGIAE RGGVRVGHRI
710 720 730 740
IEINGQSVVA TAHEKIVQAL SNSVGEIHMK TMPAAMFRLL TGQETPLYI
Length:749
Mass (Da):82,512
Last modified:May 30, 2000 - v3
Checksum:iC15AE9CFAEF51D85
GO
Isoform 2 (identifier: Q99767-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     406-417: Missing.

Note: No experimental confirmation available.
Show »
Length:737
Mass (Da):81,129
Checksum:iE5395EC6D8D00307
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti135Q → H in BAA34734 (PubMed:9890987).Curated1
Sequence conflicti163G → R in AAC39767 (PubMed:9614075).Curated1
Sequence conflicti170 – 214DEPSV…YRLRR → MSPPSLRPMTRKKMVTMCQQ RGLPGLLPRGGQREHRRLPL PPEA in AAC39767 (PubMed:9614075).CuratedAdd BLAST45
Sequence conflicti344E → K in BAA34734 (PubMed:9890987).Curated1
Sequence conflicti354F → L in BAA34734 (PubMed:9890987).Curated1
Sequence conflicti364 – 365ED → KN in BAA34734 (PubMed:9890987).Curated2
Sequence conflicti604G → C in AAC39767 (PubMed:9614075).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_050665311L → P.1 PublicationCorresponds to variant rs8040932dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_045692406 – 417Missing in isoform 2. 1 PublicationAdd BLAST12

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF047348 mRNA. Translation: AAC39767.1.
AB014719 mRNA. Translation: BAA34734.1.
AC024474 Genomic DNA. No translation available.
AC127522 Genomic DNA. No translation available.
AC174469 Genomic DNA. No translation available.
BC082986 mRNA. Translation: AAH82986.1.
AF029108 mRNA. Translation: AAC05306.1.
U79255 mRNA. Translation: AAB50203.1.
CCDSiCCDS10022.1. [Q99767-1]
CCDS45197.1. [Q99767-2]
RefSeqiNP_001123886.1. NM_001130414.1. [Q99767-2]
NP_005494.2. NM_005503.3. [Q99767-1]
XP_011519790.1. XM_011521488.2. [Q99767-1]
XP_011519791.1. XM_011521489.2. [Q99767-1]
XP_011519792.1. XM_011521490.2. [Q99767-1]
XP_011519793.1. XM_011521491.1. [Q99767-1]
XP_011519794.1. XM_011521492.2. [Q99767-1]
XP_016877590.1. XM_017022101.1. [Q99767-1]
XP_016877591.1. XM_017022102.1. [Q99767-1]
XP_016877592.1. XM_017022103.1. [Q99767-1]
XP_016877593.1. XM_017022104.1. [Q99767-1]
XP_016877594.1. XM_017022105.1. [Q99767-1]
XP_016877595.1. XM_017022106.1. [Q99767-1]
XP_016877596.1. XM_017022107.1. [Q99767-1]
XP_016877597.1. XM_017022108.1. [Q99767-1]
XP_016877598.1. XM_017022109.1. [Q99767-1]
XP_016877599.1. XM_017022110.1. [Q99767-1]
XP_016877600.1. XM_017022111.1. [Q99767-1]
XP_016877601.1. XM_017022112.1. [Q99767-1]
XP_016877602.1. XM_017022113.1. [Q99767-2]
XP_016877603.1. XM_017022114.1. [Q99767-2]
XP_016877604.1. XM_017022115.1. [Q99767-2]
XP_016877605.1. XM_017022116.1. [Q99767-2]
XP_016877606.1. XM_017022117.1. [Q99767-2]
UniGeneiHs.618112.
Hs.721380.

Genome annotation databases

EnsembliENST00000411764; ENSP00000409312; ENSG00000034053. [Q99767-2]
ENST00000558259; ENSP00000454171; ENSG00000034053. [Q99767-1]
ENST00000558330; ENSP00000452722; ENSG00000034053. [Q99767-2]
ENST00000558402; ENSP00000453293; ENSG00000034053. [Q99767-1]
ENST00000561069; ENSP00000453144; ENSG00000034053. [Q99767-1]
ENST00000612449; ENSP00000483174; ENSG00000276495. [Q99767-2]
ENST00000620457; ENSP00000480384; ENSG00000276495. [Q99767-1]
ENST00000631894; ENSP00000488107; ENSG00000276495. [Q99767-1]
GeneIDi321.
KEGGihsa:321.
UCSCiuc001zck.4. human. [Q99767-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF047348 mRNA. Translation: AAC39767.1.
AB014719 mRNA. Translation: BAA34734.1.
AC024474 Genomic DNA. No translation available.
AC127522 Genomic DNA. No translation available.
AC174469 Genomic DNA. No translation available.
BC082986 mRNA. Translation: AAH82986.1.
AF029108 mRNA. Translation: AAC05306.1.
U79255 mRNA. Translation: AAB50203.1.
CCDSiCCDS10022.1. [Q99767-1]
CCDS45197.1. [Q99767-2]
RefSeqiNP_001123886.1. NM_001130414.1. [Q99767-2]
NP_005494.2. NM_005503.3. [Q99767-1]
XP_011519790.1. XM_011521488.2. [Q99767-1]
XP_011519791.1. XM_011521489.2. [Q99767-1]
XP_011519792.1. XM_011521490.2. [Q99767-1]
XP_011519793.1. XM_011521491.1. [Q99767-1]
XP_011519794.1. XM_011521492.2. [Q99767-1]
XP_016877590.1. XM_017022101.1. [Q99767-1]
XP_016877591.1. XM_017022102.1. [Q99767-1]
XP_016877592.1. XM_017022103.1. [Q99767-1]
XP_016877593.1. XM_017022104.1. [Q99767-1]
XP_016877594.1. XM_017022105.1. [Q99767-1]
XP_016877595.1. XM_017022106.1. [Q99767-1]
XP_016877596.1. XM_017022107.1. [Q99767-1]
XP_016877597.1. XM_017022108.1. [Q99767-1]
XP_016877598.1. XM_017022109.1. [Q99767-1]
XP_016877599.1. XM_017022110.1. [Q99767-1]
XP_016877600.1. XM_017022111.1. [Q99767-1]
XP_016877601.1. XM_017022112.1. [Q99767-1]
XP_016877602.1. XM_017022113.1. [Q99767-2]
XP_016877603.1. XM_017022114.1. [Q99767-2]
XP_016877604.1. XM_017022115.1. [Q99767-2]
XP_016877605.1. XM_017022116.1. [Q99767-2]
XP_016877606.1. XM_017022117.1. [Q99767-2]
UniGeneiHs.618112.
Hs.721380.

3D structure databases

ProteinModelPortaliQ99767.
SMRiQ99767.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106818. 27 interactors.
IntActiQ99767. 6 interactors.
MINTiMINT-3059769.
STRINGi9606.ENSP00000453144.

PTM databases

iPTMnetiQ99767.
PhosphoSitePlusiQ99767.

Polymorphism and mutation databases

BioMutaiAPBA2.
DMDMi6226950.

Proteomic databases

MaxQBiQ99767.
PaxDbiQ99767.
PeptideAtlasiQ99767.
PRIDEiQ99767.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000411764; ENSP00000409312; ENSG00000034053. [Q99767-2]
ENST00000558259; ENSP00000454171; ENSG00000034053. [Q99767-1]
ENST00000558330; ENSP00000452722; ENSG00000034053. [Q99767-2]
ENST00000558402; ENSP00000453293; ENSG00000034053. [Q99767-1]
ENST00000561069; ENSP00000453144; ENSG00000034053. [Q99767-1]
ENST00000612449; ENSP00000483174; ENSG00000276495. [Q99767-2]
ENST00000620457; ENSP00000480384; ENSG00000276495. [Q99767-1]
ENST00000631894; ENSP00000488107; ENSG00000276495. [Q99767-1]
GeneIDi321.
KEGGihsa:321.
UCSCiuc001zck.4. human. [Q99767-1]

Organism-specific databases

CTDi321.
DisGeNETi321.
GeneCardsiAPBA2.
H-InvDBHIX0009682.
HIX0021324.
HGNCiHGNC:579. APBA2.
HPAiCAB037065.
HPA039400.
MIMi602712. gene.
neXtProtiNX_Q99767.
OpenTargetsiENSG00000034053.
ENSG00000276495.
PharmGKBiPA24870.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3605. Eukaryota.
ENOG410XSBD. LUCA.
GeneTreeiENSGT00390000013578.
HOGENOMiHOG000033981.
HOVERGENiHBG050523.
InParanoidiQ99767.
KOiK20055.
OMAiRHEGRPK.
OrthoDBiEOG091G0PDJ.
PhylomeDBiQ99767.
TreeFamiTF315245.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000034053-MONOMER.
ReactomeiR-HSA-6794361. Interactions of neurexins and neuroligins at synapses.

Miscellaneous databases

ChiTaRSiAPBA2. human.
GeneWikiiAPBA2.
GenomeRNAii321.
PROiQ99767.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000034053.
CleanExiHS_APBA2.
ExpressionAtlasiQ99767. baseline and differential.
GenevisibleiQ99767. HS.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
2.30.42.10. 2 hits.
InterProiIPR030529. Apba2.
IPR001478. PDZ.
IPR011993. PH_dom-like.
IPR006020. PTB/PI_dom.
[Graphical view]
PANTHERiPTHR12345:SF12. PTHR12345:SF12. 1 hit.
PfamiPF00595. PDZ. 2 hits.
PF00640. PID. 1 hit.
[Graphical view]
SMARTiSM00228. PDZ. 2 hits.
SM00462. PTB. 1 hit.
[Graphical view]
SUPFAMiSSF50156. SSF50156. 2 hits.
SSF50729. SSF50729. 1 hit.
PROSITEiPS50106. PDZ. 2 hits.
PS01179. PID. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiAPBA2_HUMAN
AccessioniPrimary (citable) accession number: Q99767
Secondary accession number(s): E9PGI4, O60571, Q5XKC0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: May 30, 2000
Last modified: November 30, 2016
This is version 146 of the entry and version 3 of the sequence. [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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: 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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.