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Protein

Amyloid-beta A4 precursor protein-binding family A member 3

Gene

APBA3

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

Functioni

May modulate processing of the amyloid-beta precursor protein (APP) and hence formation of APP-beta. May enhance the activity of HIF1A in macrophages by inhibiting the activity of HIF1AN.1 Publication

GO - Molecular functioni

  • amyloid-beta binding Source: Ensembl
  • enzyme binding Source: UniProtKB
  • enzyme inhibitor activity Source: UniProtKB

GO - Biological processi

Keywordsi

Biological processProtein transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-6794361 Neurexins and neuroligins

Names & Taxonomyi

Protein namesi
Recommended name:
Amyloid-beta A4 precursor protein-binding family A member 3
Alternative name(s):
Adapter protein X11gamma
Neuron-specific X11L2 protein
Neuronal Munc18-1-interacting protein 3
Short name:
Mint-3
Gene namesi
Name:APBA3
Synonyms:MINT3, X11L2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000011132.11
HGNCiHGNC:580 APBA3
MIMi604262 gene
neXtProtiNX_O96018

Subcellular locationi

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

DisGeNETi9546
OpenTargetsiENSG00000011132
PharmGKBiPA24872

Polymorphism and mutation databases

BioMutaiAPBA3

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000646201 – 575Amyloid-beta A4 precursor protein-binding family A member 3Add BLAST575

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei11PhosphoserineCombined sources1
Modified residuei171PhosphoserineBy similarity1
Modified residuei372PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiO96018
MaxQBiO96018
PaxDbiO96018
PeptideAtlasiO96018
PRIDEiO96018
ProteomicsDBi51210

PTM databases

iPTMnetiO96018
PhosphoSitePlusiO96018

Expressioni

Tissue specificityi

Expressed in all tissues examined with lower levels in brain and testis.

Gene expression databases

BgeeiENSG00000011132 Expressed in 200 organ(s), highest expression level in right hemisphere of cerebellum
CleanExiHS_APBA3
GenevisibleiO96018 HS

Organism-specific databases

HPAiHPA045577

Interactioni

Subunit structurei

Binds to the cytoplasmic domain of amyloid protein (APP) in vivo. Interacts with HIF1AN (via N-terminus). Interacts with NECAB3; seems to mediate the interaction between NECAB3 and HIF1AN.2 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi114920, 38 interactors
IntActiO96018, 16 interactors
MINTiO96018
STRINGi9606.ENSP00000315136

Structurei

Secondary structure

1575
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliO96018
SMRiO96018
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO96018

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini217 – 381PIDPROSITE-ProRule annotationAdd BLAST165
Domaini394 – 480PDZ 1PROSITE-ProRule annotationAdd BLAST87
Domaini485 – 560PDZ 2PROSITE-ProRule annotationAdd BLAST76

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni215 – 364Required for interaction with NECAB31 PublicationAdd BLAST150

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi165 – 171Poly-Ser7

Domaini

Composed of an N-terminal domain, 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.

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG3605 Eukaryota
ENOG410XSBD LUCA
GeneTreeiENSGT00390000013578
HOGENOMiHOG000033981
HOVERGENiHBG050523
InParanoidiO96018
OMAiHNGDLDH
OrthoDBiEOG091G0PDJ
PhylomeDBiO96018
TreeFamiTF315245

Family and domain databases

Gene3Di2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR030531 Apba3
IPR001478 PDZ
IPR036034 PDZ_sf
IPR011993 PH-like_dom_sf
IPR006020 PTB/PI_dom
PANTHERiPTHR12345:SF9 PTHR12345:SF9, 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

Sequencei

Sequence statusi: Complete.

O96018-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MDFPTISRSP SGPPAMDLEG PRDILVPSED LTPDSQWDPM PGGPGSLSRM
60 70 80 90 100
ELDESSLQEL VQQFEALPGD LVGPSPGGAP CPLHIATGHG LASQEIADAH
110 120 130 140 150
GLLSAEAGRD DLLGLLHCEE CPPSQTGPEE PLEPAPRLLQ PPEDPDEDSD
160 170 180 190 200
SPEWVEGASA EQEGSRSSSS SPEPWLETVP LVTPEEPPAG AQSPETLASY
210 220 230 240 250
PAPQEVPGPC DHEDLLDGVI FGARYLGSTQ LVSERNPPTS TRMAQAREAM
260 270 280 290 300
DRVKAPDGET QPMTEVDLFV STKRIKVLTA DSQEAMMDHA LHTISYTADI
310 320 330 340 350
GCVLVLMARR RLARRPAPQD HGRRLYKMLC HVFYAEDAQL IAQAIGQAFA
360 370 380 390 400
AAYSQFLRES GIDPSQVGVH PSPGACHLHN GDLDHFSNSD NCREVHLEKR
410 420 430 440 450
RGEGLGVALV ESGWGSLLPT AVIANLLHGG PAERSGALSI GDRLTAINGT
460 470 480 490 500
SLVGLPLAAC QAAVRETKSQ TSVTLSIVHC PPVTTAIIHR PHAREQLGFC
510 520 530 540 550
VEDGIICSLL RGGIAERGGI RVGHRIIEIN GQSVVATPHA RIIELLTEAY
560 570
GEVHIKTMPA ATYRLLTGQE QPVYL
Length:575
Mass (Da):61,454
Last modified:May 1, 1999 - v1
Checksum:i3B910CC74C5F3840
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti505I → IVRPRPLAPGWGGRAALSTA PEQPPPLSRAPLFLPQ in AAC17979 (PubMed:9860131).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_050666154W → L. Corresponds to variant dbSNP:rs35932323Ensembl.1
Natural variantiVAR_020134276K → T. Corresponds to variant dbSNP:rs3746119Ensembl.1
Natural variantiVAR_047952376C → RCombined sourcesCorresponds to variant dbSNP:rs8102086Ensembl.1
Natural variantiVAR_011822527I → F. Corresponds to variant dbSNP:rs1045236Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB021638 mRNA Translation: BAA74430.1
AC005954 Genomic DNA Translation: AAC72275.1
BC086306 mRNA Translation: AAH86306.1
AB023431 Genomic DNA Translation: BAA83094.1
AF029110 mRNA Translation: AAC17979.1
CCDSiCCDS12110.1
PIRiJG0181
RefSeqiNP_004877.1, NM_004886.3
UniGeneiHs.25527
Hs.465607

Genome annotation databases

EnsembliENST00000316757; ENSP00000315136; ENSG00000011132
GeneIDi9546
KEGGihsa:9546
UCSCiuc002lyp.2 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB021638 mRNA Translation: BAA74430.1
AC005954 Genomic DNA Translation: AAC72275.1
BC086306 mRNA Translation: AAH86306.1
AB023431 Genomic DNA Translation: BAA83094.1
AF029110 mRNA Translation: AAC17979.1
CCDSiCCDS12110.1
PIRiJG0181
RefSeqiNP_004877.1, NM_004886.3
UniGeneiHs.25527
Hs.465607

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2YT7NMR-A390-483[»]
2YT8NMR-A483-569[»]
5UWSX-ray2.40D55-72[»]
ProteinModelPortaliO96018
SMRiO96018
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114920, 38 interactors
IntActiO96018, 16 interactors
MINTiO96018
STRINGi9606.ENSP00000315136

PTM databases

iPTMnetiO96018
PhosphoSitePlusiO96018

Polymorphism and mutation databases

BioMutaiAPBA3

Proteomic databases

EPDiO96018
MaxQBiO96018
PaxDbiO96018
PeptideAtlasiO96018
PRIDEiO96018
ProteomicsDBi51210

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000316757; ENSP00000315136; ENSG00000011132
GeneIDi9546
KEGGihsa:9546
UCSCiuc002lyp.2 human

Organism-specific databases

CTDi9546
DisGeNETi9546
EuPathDBiHostDB:ENSG00000011132.11
GeneCardsiAPBA3
HGNCiHGNC:580 APBA3
HPAiHPA045577
MIMi604262 gene
neXtProtiNX_O96018
OpenTargetsiENSG00000011132
PharmGKBiPA24872
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3605 Eukaryota
ENOG410XSBD LUCA
GeneTreeiENSGT00390000013578
HOGENOMiHOG000033981
HOVERGENiHBG050523
InParanoidiO96018
OMAiHNGDLDH
OrthoDBiEOG091G0PDJ
PhylomeDBiO96018
TreeFamiTF315245

Enzyme and pathway databases

ReactomeiR-HSA-6794361 Neurexins and neuroligins

Miscellaneous databases

ChiTaRSiAPBA3 human
EvolutionaryTraceiO96018
GeneWikiiAPBA3
GenomeRNAii9546
PROiPR:O96018
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000011132 Expressed in 200 organ(s), highest expression level in right hemisphere of cerebellum
CleanExiHS_APBA3
GenevisibleiO96018 HS

Family and domain databases

Gene3Di2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR030531 Apba3
IPR001478 PDZ
IPR036034 PDZ_sf
IPR011993 PH-like_dom_sf
IPR006020 PTB/PI_dom
PANTHERiPTHR12345:SF9 PTHR12345:SF9, 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
ProtoNetiSearch...

Entry informationi

Entry nameiAPBA3_HUMAN
AccessioniPrimary (citable) accession number: O96018
Secondary accession number(s): O60483, Q9UPZ2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: May 1, 1999
Last modified: September 12, 2018
This is version 154 of the entry and version 1 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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