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Reviewed, UniProtKB/Swiss-Prot O95704 (APBB3_HUMAN)

Last modified November 25, 2008. Version 64. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Amyloid beta A4 precursor protein-binding family B member 3
Alternative name(s):
    Fe65-like protein 2
      Short name=Fe65L2
Gene names
Name: APBB3
Synonyms: FE65L2
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length486 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

General annotation (Comments)

Function

May modulate the internalization of beta-amyloid precursor protein.

Subunit structure

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

Tissue specificity

Expressed in various tissues.

Sequence similarities

Contains 2 PID domains.

Contains 1 WW domain.

Ontologies

Keywords

   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
   Technical term3D-structure

Gene Ontology (GO)

   Cellular componentcytoplasm Ref.1

Traceable author statement. Source: ProtInc

cytoskeleton

Inferred from direct assay. Source: HPA

   Molecular functionprotein binding Ref.1

Traceable author statement. Source: ProtInc

Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform II (identifier: O95704-1)

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.
Isoform I (identifier: O95704-2)

The sequence of this isoform differs from the canonical sequence as follows:
     210-211: Missing.
Isoform III (identifier: O95704-3)

The sequence of this isoform differs from the canonical sequence as follows:
     210-210: D → PISAPA
Isoform IV (identifier: O95704-4)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 486486Amyloid beta A4 precursor protein-binding family B member 3
PRO_0000076054

Regions

Domain29 – 6133WW
Domain113 – 280168PID 1
Domain285 – 440156PID 2

Natural variations

Alternative sequence210 – 2112Missing in isoform I.
VSP_006799
Alternative sequence2101D → PISAPA in isoform III.
VSP_006800
Alternative sequence2101D → DSPISAPA in isoform IV.
VSP_006801
Natural variant1651G → R: dbSNP rs7715021.
VAR_029518
Natural variant2311R → C: dbSNP rs250430.
VAR_024702

Secondary structure

..................... 486
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform II [UniParc].

Last modified May 1, 1999. Version 1.
Checksum: 494DFB422355EFA5

FASTA48652,638
        10         20         30         40         50         60 
MLGKDYMLAI ILVNCDDDLW GDHSLEVEAG LPPGWRKIHD AAGTYYWHVP SGSTQWQRPT 

        70         80         90        100        110        120 
WELGDAEDPG TGTEGIWGLR PPKGRSFSSL ESSLDRSNSL SWYGGESYIQ SMEPGAKCFA 

       130        140        150        160        170        180 
VRSLGWVEVP EEDLAPGKSS IAVNNCIQQL AQTRSRSQPP DGAWGEGQNM LMILKKDAMS 

       190        200        210        220        230        240 
LVNPLDHSLI HCQPLVHIRV WGVGSSKGRD RDFAFVASDK DSCMLKCHVF RCDVPAKAIA 

       250        260        270        280        290        300 
SALHGLCAQI LSERVEVSGD ASCCSPDPIS PEDLPRQVEL LDAVSQAAQK YEALYMGTLP 

       310        320        330        340        350        360 
VTKAMGMDVL NEAIGTLTAR GDRNAWVPTM LSVSDSLMTA HPIQAEASTE EEPLWQCPVR 

       370        380        390        400        410        420 
LVTFIGVGRD PHTFGLIADL GRQSFQCAAF WCQPHAGGLS EAVQAACMVQ YQKCLVASAA 

       430        440        450        460        470        480 
RGKAWGAQAR ARLRLKRTSS MDSPGGPLPL PLLKGGVGGA GATPRKRGVF SFLDAFRLKP 


SLLHMP 

« Hide

Isoform I [UniParc].

Checksum: 362761550F0CF984
Show »

48452,367
Isoform III [UniParc].

Checksum: 193A8699641578E6
Show »

49153,060
Isoform IV [UniParc].

Checksum: 42B279F50B2EEF92
Show »

49353,262

References

« Hide 'large scale' references
[1]"Molecular cloning of human Fe65L2 and its interaction with the Alzheimer's beta-amyloid precursor protein."
Tanahashi H.
Neurosci. Lett. 261:143-146(1999) [PubMed: 10081969] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS I AND II).
Tissue: Brain.
[2]"Genome structure and chromosomal mapping of the gene for Fe65L2 interacting with Alzheimer's beta-amyloid precursor protein."
Tanahashi H., Tabira T.
Biochem. Biophys. Res. Commun. 258:385-389(1999) [PubMed: 10329396] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]"Molecular cloning of the full-length cDNA and novel splicing isoforms of Fe65L2 gene."
Mao Y.M., Xie Y., Sun Z., Chen X.M., Ying K., Dai J.L., Lin S., Wu C.Q., Li Y.
Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS I; II; III AND IV).
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM II), VARIANT CYS-231.
+Additional computationally mapped references.

Cross-references

Sequence databases

AB018247 mRNA. Translation: BAA35188.1.
AB024745 Genomic DNA. Translation: BAA78674.1.
AF224708 mRNA. Translation: AAF65172.1.
AF224709 mRNA. Translation: AAF65173.1.
AF224710 mRNA. Translation: AAF65174.1.
AF224711 mRNA. Translation: AAF65175.1.
BC125187 mRNA. Translation: AAI25188.1.
UniGeneHs.529449

3D structure databases

EntryMethodResolution (Å)ChainPositionsPDBsum
2DYQX-ray3.10A281-417[»]
2YSCNMR-A30-61[»]
ModBaseSearch...

Protein-protein interaction databases

IntActO95704.

PTM databases

PhosphoSiteO95704.

Genome annotation databases

EnsemblENSG00000113108. Homo sapiens. [Contig view]

Organism-specific databases

H-InvDBHIX0005232.
HGNCHGNC:20708. APBB3.
HPAHPA005571.
MIM602711. gene.
PharmGKBPA134958636.
GenAtlasSearch...
GeneCardsSearch...

Phylogenomic databases

HOVERGENO95704.

Gene expression databases

ArrayExpressO95704.
CleanExHS_APBB3.
GermOnlineENSG00000113108. Homo sapiens.

Family and domain databases

InterProIPR011993. PH_type.
IPR006020. PTB_PID.
IPR001202. WW_Rsp5_WWP.
[Graphical view]
Gene3DG3DSA:2.30.29.30. PH_type. 1 hit.
PfamPF00640. PID. 2 hits.
PF00397. WW. 1 hit.
[Graphical view]
SMARTSM00462. PTB. 2 hits.
SM00456. WW. 1 hit.
[Graphical view]
PROSITEPS01179. PID. 2 hits.
PS01159. WW_DOMAIN_1. 1 hit.
PS50020. WW_DOMAIN_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

SOURCESearch...

Entry information

Entry nameAPBB3_HUMAN
AccessionPrimary (citable) accession number: O95704
Secondary accession number(s): Q08AG4 expand/collapse secondary AC list , Q9NYX6, Q9NYX7, Q9NYX8
Entry history
Integrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: May 1, 1999
Last modified: November 25, 2008
This is version 64 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

Relevant documents

Human chromosome 5

Human chromosome 5: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents