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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: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

May modulate the internalization of beta-amyloid precursor protein.

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000113108-MONOMER.
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

HGNCiHGNC:20708. APBB3.

Subcellular locationi

  • Cytoplasm 1 Publication
  • Nucleus 1 Publication

GO - Cellular componenti

Complete GO annotation...

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.

PTM databases

iPTMnetiO95704.
PhosphoSitePlusiO95704.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000113108.
CleanExiHS_APBB3.
ExpressionAtlasiO95704. baseline and differential.
GenevisibleiO95704. HS.

Organism-specific databases

HPAiHPA005571.

Interactioni

Subunit structurei

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

Binary interactionsi

WithEntry#Exp.IntActNotes
DAPP1Q9UN192EBI-286427,EBI-3918199
EGFRP005332EBI-286427,EBI-297353

GO - Molecular functioni

Protein-protein interaction databases

BioGridi115593. 23 interactors.
IntActiO95704. 7 interactors.
MINTiMINT-1493083.
STRINGi9606.ENSP00000346378.

Structurei

Secondary structure

1486
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi35 – 40Combined sources6
Beta strandi43 – 51Combined sources9
Beta strandi54 – 57Combined sources4
Beta strandi292 – 304Combined sources13
Helixi307 – 318Combined sources12
Beta strandi327 – 333Combined sources7
Beta strandi335 – 342Combined sources8
Beta strandi354 – 358Combined sources5
Helixi359 – 361Combined sources3
Beta strandi362 – 367Combined sources6
Beta strandi373 – 379Combined sources7
Beta strandi381 – 383Combined sources3
Beta strandi385 – 391Combined sources7
Helixi397 – 415Combined sources19

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...

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

Sequence similaritiesi

Contains 2 PID domains.PROSITE-ProRule annotation
Contains 1 WW domain.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410IEKA. Eukaryota.
ENOG410YEVS. LUCA.
GeneTreeiENSGT00390000000002.
HOGENOMiHOG000033983.
HOVERGENiHBG050524.
InParanoidiO95704.
OMAiSDKDSCM.
OrthoDBiEOG091G04HV.
PhylomeDBiO95704.
TreeFamiTF314331.

Family and domain databases

Gene3Di2.30.29.30. 2 hits.
InterProiIPR011993. PH_dom-like.
IPR006020. PTB/PI_dom.
IPR001202. WW_dom.
[Graphical view]
PfamiPF00640. PID. 1 hit.
[Graphical view]
SMARTiSM00462. PTB. 2 hits.
SM00456. WW. 1 hit.
[Graphical view]
SUPFAMiSSF50729. SSF50729. 2 hits.
SSF51045. SSF51045. 1 hit.
PROSITEiPS01179. PID. 2 hits.
PS01159. WW_DOMAIN_1. 1 hit.
PS50020. WW_DOMAIN_2. 1 hit.
[Graphical view]

Sequences (6)i

Sequence statusi: Complete.

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

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_029518165G → R.Corresponds to variant rs7715021dbSNPEnsembl.1
Natural variantiVAR_024702231C → R.5 PublicationsCorresponds to variant rs250430dbSNPEnsembl.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

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. 23 interactors.
IntActiO95704. 7 interactors.
MINTiMINT-1493083.
STRINGi9606.ENSP00000346378.

PTM databases

iPTMnetiO95704.
PhosphoSitePlusiO95704.

Polymorphism and mutation databases

BioMutaiAPBB3.

Proteomic databases

PaxDbiO95704.
PeptideAtlasiO95704.
PRIDEiO95704.

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.
GeneCardsiAPBB3.
HGNCiHGNC:20708. APBB3.
HPAiHPA005571.
MIMi602711. gene.
neXtProtiNX_O95704.
OpenTargetsiENSG00000113108.
PharmGKBiPA134958636.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IEKA. Eukaryota.
ENOG410YEVS. LUCA.
GeneTreeiENSGT00390000000002.
HOGENOMiHOG000033983.
HOVERGENiHBG050524.
InParanoidiO95704.
OMAiSDKDSCM.
OrthoDBiEOG091G04HV.
PhylomeDBiO95704.
TreeFamiTF314331.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000113108-MONOMER.
SignaLinkiO95704.

Miscellaneous databases

ChiTaRSiAPBB3. human.
EvolutionaryTraceiO95704.
GeneWikiiAPBB3.
GenomeRNAii10307.
PROiO95704.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000113108.
CleanExiHS_APBB3.
ExpressionAtlasiO95704. baseline and differential.
GenevisibleiO95704. HS.

Family and domain databases

Gene3Di2.30.29.30. 2 hits.
InterProiIPR011993. PH_dom-like.
IPR006020. PTB/PI_dom.
IPR001202. WW_dom.
[Graphical view]
PfamiPF00640. PID. 1 hit.
[Graphical view]
SMARTiSM00462. PTB. 2 hits.
SM00456. WW. 1 hit.
[Graphical view]
SUPFAMiSSF50729. SSF50729. 2 hits.
SSF51045. SSF51045. 1 hit.
PROSITEiPS01179. PID. 2 hits.
PS01159. WW_DOMAIN_1. 1 hit.
PS50020. WW_DOMAIN_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiAPBB3_HUMAN
AccessioniPrimary (citable) accession number: O95704
Secondary accession number(s): B3KQN9
, Q08AG4, Q96Q18, Q9BYD4, Q9NYX6, Q9NYX7, Q9NYX8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: November 30, 2010
Last modified: November 2, 2016
This is version 136 of the entry and version 2 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: 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
  6. 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.