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Protein

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

Gene

APBB3

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

Functioni

May modulate the internalization of amyloid-beta precursor protein.

GO - Molecular functioni

  • amyloid-beta binding Source: GO_Central
  • transcription factor binding Source: GO_Central

GO - Biological processi

Enzyme and pathway databases

SignaLinkiO95704

Names & Taxonomyi

Protein namesi
Recommended name:
Amyloid-beta A4 precursor protein-binding family B member 3
Alternative name(s):
Protein Fe65-like 2
Short name:
Fe65L2
Gene namesi
Name:APBB3
Synonyms:FE65L2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000113108.17
HGNCiHGNC:20708 APBB3
MIMi602711 gene
neXtProtiNX_O95704

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, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi10307
OpenTargetsiENSG00000113108
PharmGKBiPA134958636

Polymorphism and mutation databases

BioMutaiAPBB3

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000760541 – 486Amyloid-beta A4 precursor protein-binding family B member 3Add BLAST486

Proteomic databases

PaxDbiO95704
PeptideAtlasiO95704
PRIDEiO95704
ProteomicsDBi51002
51003 [O95704-2]
51004 [O95704-3]
51005 [O95704-4]

PTM databases

iPTMnetiO95704
PhosphoSitePlusiO95704

Expressioni

Tissue specificityi

Expressed in various tissues, highest expression in brain.1 Publication

Gene expression databases

BgeeiENSG00000113108 Expressed in 91 organ(s), highest expression level in right ovary
CleanExiHS_APBB3
ExpressionAtlasiO95704 baseline and differential
GenevisibleiO95704 HS

Organism-specific databases

HPAiHPA005571

Interactioni

Subunit structurei

Binds to the intracellular domain of the amyloid-beta precursor protein. Also binds to APP-like proteins.

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi115593, 25 interactors
IntActiO95704, 7 interactors
MINTiO95704
STRINGi9606.ENSP00000346378

Structurei

Secondary structure

1486
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliO95704
SMRiO95704
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO95704

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini29 – 61WWPROSITE-ProRule annotationAdd BLAST33
Domaini113 – 280PID 1PROSITE-ProRule annotationAdd BLAST168
Domaini285 – 440PID 2PROSITE-ProRule annotationAdd BLAST156

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410IEKA Eukaryota
ENOG410YEVS LUCA
GeneTreeiENSGT00390000000002
HOGENOMiHOG000033983
HOVERGENiHBG075162
InParanoidiO95704
OMAiTWVPAML
OrthoDBiEOG091G04HV
PhylomeDBiO95704
TreeFamiTF314331

Family and domain databases

CDDicd00201 WW, 1 hit
Gene3Di2.30.29.30, 2 hits
InterProiView protein in InterPro
IPR039576 Fe65
IPR011993 PH-like_dom_sf
IPR006020 PTB/PI_dom
IPR001202 WW_dom
IPR036020 WW_dom_sf
PANTHERiPTHR14058 PTHR14058, 1 hit
PfamiView protein in Pfam
PF00640 PID, 1 hit
SMARTiView protein in SMART
SM00462 PTB, 2 hits
SM00456 WW, 1 hit
SUPFAMiSSF51045 SSF51045, 1 hit
PROSITEiView protein in PROSITE
PS01179 PID, 2 hits
PS01159 WW_DOMAIN_1, 1 hit
PS50020 WW_DOMAIN_2, 1 hit

Sequences (6+)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 6 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform II (identifier: O95704-1) [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
MLGKDYMLAI ILVNCDDDLW GDHSLEVEAG LPPGWRKIHD AAGTYYWHVP
60 70 80 90 100
SGSTQWQRPT WELGDAEDPG TGTEGIWGLR PPKGRSFSSL ESSLDRSNSL
110 120 130 140 150
SWYGGESYIQ SMEPGAKCFA VRSLGWVEVP EEDLAPGKSS IAVNNCIQQL
160 170 180 190 200
AQTRSRSQPP DGAWGEGQNM LMILKKDAMS LVNPLDHSLI HCQPLVHIRV
210 220 230 240 250
WGVGSSKGRD RDFAFVASDK DSCMLKCHVF CCDVPAKAIA SALHGLCAQI
260 270 280 290 300
LSERVEVSGD ASCCSPDPIS PEDLPRQVEL LDAVSQAAQK YEALYMGTLP
310 320 330 340 350
VTKAMGMDVL NEAIGTLTAR GDRNAWVPTM LSVSDSLMTA HPIQAEASTE
360 370 380 390 400
EEPLWQCPVR LVTFIGVGRD PHTFGLIADL GRQSFQCAAF WCQPHAGGLS
410 420 430 440 450
EAVQAACMVQ YQKCLVASAA RGKAWGAQAR ARLRLKRTSS MDSPGGPLPL
460 470 480
PLLKGGVGGA GATPRKRGVF SFLDAFRLKP SLLHMP
Length:486
Mass (Da):52,585
Last modified:November 30, 2010 - v2
Checksum:i553DFB4D8655EFA1
GO
Isoform I (identifier: O95704-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     210-211: Missing.

Show »
Length:484
Mass (Da):52,314
Checksum:i2A57615AAA0CF980
GO
Isoform III (identifier: O95704-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     210-210: D → PISAPA

Show »
Length:491
Mass (Da):53,007
Checksum:i054A8696C11578E2
GO
Isoform IV (identifier: O95704-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     210-210: D → DSPISAPA

Show »
Length:493
Mass (Da):53,209
Checksum:i5EC279FAAE2EEF96
GO
Isoform I-214 (identifier: O95704-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     196-214: VHIRVWGVGSSKGRDRDFA → AVIPTDADPQYLNPWTQIL
     215-486: Missing.

Note: Increased expression upon apoptotic stimuli.
Show »
Length:214
Mass (Da):23,634
Checksum:iFD469DC121C73E6C
GO
Isoform I-245 (identifier: O95704-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     210-245: DRDFAFVASDKDSCMLKCHVFCCDVPAKAIASALHG → SSDVDPGLLPLPGPALVGEGGPSSAGTVWGESERLG
     246-486: Missing.

Show »
Length:245
Mass (Da):26,460
Checksum:i7F460206E4157F6C
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RBA1D6RBA1_HUMAN
Amyloid-beta A4 precursor protein-b...
APBB3
337Annotation score:
E7EX91E7EX91_HUMAN
Amyloid-beta A4 precursor protein-b...
APBB3
339Annotation score:
D6RJB2D6RJB2_HUMAN
Amyloid-beta A4 precursor protein-b...
APBB3
163Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_029518165G → R. Corresponds to variant dbSNP:rs7715021Ensembl.1
Natural variantiVAR_024702231C → R5 PublicationsCorresponds to variant dbSNP:rs250430Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_047811196 – 214VHIRV…DRDFA → AVIPTDADPQYLNPWTQIL in isoform I-214. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_047812210 – 245DRDFA…SALHG → SSDVDPGLLPLPGPALVGEG GPSSAGTVWGESERLG in isoform I-245. 1 PublicationAdd BLAST36
Alternative sequenceiVSP_006799210 – 211Missing in isoform I. 2 Publications2
Alternative sequenceiVSP_006800210D → PISAPA in isoform III. 1 Publication1
Alternative sequenceiVSP_006801210D → DSPISAPA in isoform IV. 1 Publication1
Alternative sequenceiVSP_047813215 – 486Missing in isoform I-214. 1 PublicationAdd BLAST272
Alternative sequenceiVSP_047814246 – 486Missing in isoform I-245. 1 PublicationAdd BLAST241

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB018247 mRNA Translation: BAA35188.1
AB024745 Genomic DNA Translation: BAA78674.1
AB049618 mRNA Translation: BAB40806.1
AB061224 mRNA Translation: BAB71767.1
AF224708 mRNA Translation: AAF65172.1
AF224709 mRNA Translation: AAF65173.1
AF224710 mRNA Translation: AAF65174.1
AF224711 mRNA Translation: AAF65175.1
AK075280 mRNA Translation: BAG52101.1
AC011399 Genomic DNA No translation available.
AC116353 Genomic DNA No translation available.
CH471062 Genomic DNA Translation: EAW62041.1
BC125187 mRNA Translation: AAI25188.1
CCDSiCCDS4227.1 [O95704-4]
CCDS4228.1 [O95704-3]
CCDS4229.1 [O95704-1]
CCDS47279.1 [O95704-2]
RefSeqiNP_006042.3, NM_006051.3 [O95704-4]
NP_573418.2, NM_133172.2 [O95704-3]
NP_573419.2, NM_133173.2 [O95704-1]
NP_573420.2, NM_133174.2 [O95704-2]
UniGeneiHs.529449

Genome annotation databases

EnsembliENST00000354402; ENSP00000346378; ENSG00000113108 [O95704-4]
ENST00000356738; ENSP00000349177; ENSG00000113108 [O95704-3]
ENST00000357560; ENSP00000350171; ENSG00000113108 [O95704-1]
ENST00000412920; ENSP00000402591; ENSG00000113108 [O95704-2]
ENST00000467078; ENSP00000422718; ENSG00000113108 [O95704-6]
ENST00000509914; ENSP00000426107; ENSG00000113108 [O95704-5]
GeneIDi10307
KEGGihsa:10307
UCSCiuc003lgd.2 human [O95704-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB018247 mRNA Translation: BAA35188.1
AB024745 Genomic DNA Translation: BAA78674.1
AB049618 mRNA Translation: BAB40806.1
AB061224 mRNA Translation: BAB71767.1
AF224708 mRNA Translation: AAF65172.1
AF224709 mRNA Translation: AAF65173.1
AF224710 mRNA Translation: AAF65174.1
AF224711 mRNA Translation: AAF65175.1
AK075280 mRNA Translation: BAG52101.1
AC011399 Genomic DNA No translation available.
AC116353 Genomic DNA No translation available.
CH471062 Genomic DNA Translation: EAW62041.1
BC125187 mRNA Translation: AAI25188.1
CCDSiCCDS4227.1 [O95704-4]
CCDS4228.1 [O95704-3]
CCDS4229.1 [O95704-1]
CCDS47279.1 [O95704-2]
RefSeqiNP_006042.3, NM_006051.3 [O95704-4]
NP_573418.2, NM_133172.2 [O95704-3]
NP_573419.2, NM_133173.2 [O95704-1]
NP_573420.2, NM_133174.2 [O95704-2]
UniGeneiHs.529449

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2DYQX-ray3.10A281-417[»]
2YSCNMR-A30-61[»]
ProteinModelPortaliO95704
SMRiO95704
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115593, 25 interactors
IntActiO95704, 7 interactors
MINTiO95704
STRINGi9606.ENSP00000346378

PTM databases

iPTMnetiO95704
PhosphoSitePlusiO95704

Polymorphism and mutation databases

BioMutaiAPBB3

Proteomic databases

PaxDbiO95704
PeptideAtlasiO95704
PRIDEiO95704
ProteomicsDBi51002
51003 [O95704-2]
51004 [O95704-3]
51005 [O95704-4]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000354402; ENSP00000346378; ENSG00000113108 [O95704-4]
ENST00000356738; ENSP00000349177; ENSG00000113108 [O95704-3]
ENST00000357560; ENSP00000350171; ENSG00000113108 [O95704-1]
ENST00000412920; ENSP00000402591; ENSG00000113108 [O95704-2]
ENST00000467078; ENSP00000422718; ENSG00000113108 [O95704-6]
ENST00000509914; ENSP00000426107; ENSG00000113108 [O95704-5]
GeneIDi10307
KEGGihsa:10307
UCSCiuc003lgd.2 human [O95704-1]

Organism-specific databases

CTDi10307
DisGeNETi10307
EuPathDBiHostDB:ENSG00000113108.17
GeneCardsiAPBB3
HGNCiHGNC:20708 APBB3
HPAiHPA005571
MIMi602711 gene
neXtProtiNX_O95704
OpenTargetsiENSG00000113108
PharmGKBiPA134958636
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IEKA Eukaryota
ENOG410YEVS LUCA
GeneTreeiENSGT00390000000002
HOGENOMiHOG000033983
HOVERGENiHBG075162
InParanoidiO95704
OMAiTWVPAML
OrthoDBiEOG091G04HV
PhylomeDBiO95704
TreeFamiTF314331

Enzyme and pathway databases

SignaLinkiO95704

Miscellaneous databases

ChiTaRSiAPBB3 human
EvolutionaryTraceiO95704
GeneWikiiAPBB3
GenomeRNAii10307
PROiPR:O95704
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000113108 Expressed in 91 organ(s), highest expression level in right ovary
CleanExiHS_APBB3
ExpressionAtlasiO95704 baseline and differential
GenevisibleiO95704 HS

Family and domain databases

CDDicd00201 WW, 1 hit
Gene3Di2.30.29.30, 2 hits
InterProiView protein in InterPro
IPR039576 Fe65
IPR011993 PH-like_dom_sf
IPR006020 PTB/PI_dom
IPR001202 WW_dom
IPR036020 WW_dom_sf
PANTHERiPTHR14058 PTHR14058, 1 hit
PfamiView protein in Pfam
PF00640 PID, 1 hit
SMARTiView protein in SMART
SM00462 PTB, 2 hits
SM00456 WW, 1 hit
SUPFAMiSSF51045 SSF51045, 1 hit
PROSITEiView protein in PROSITE
PS01179 PID, 2 hits
PS01159 WW_DOMAIN_1, 1 hit
PS50020 WW_DOMAIN_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiAPBB3_HUMAN
AccessioniPrimary (citable) accession number: O95704
Secondary accession number(s): B3KQN9
, Q08AG4, Q96Q18, Q9BYD4, Q9NYX6, Q9NYX7, Q9NYX8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: November 30, 2010
Last modified: November 7, 2018
This is version 149 of the entry and version 2 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. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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