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O95704 (APBB3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 113. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

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

Protein attributes

Sequence length486 AA.
Sequence statusComplete.
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 binds to APP-like proteins.

Subcellular location

Cytoplasm. Nucleus Ref.3.

Isoform I-214: Nucleus Ref.3.

Isoform I-245: Nucleus Ref.3.

Tissue specificity

Expressed in various tissues, highest expression in brain. Ref.3

Sequence similarities

Contains 2 PID domains.

Contains 1 WW domain.

Ontologies

Keywords
   Cellular componentCytoplasm
Nucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentactin cytoskeleton

Inferred from direct assay. Source: HPA

cytoplasm

Inferred from direct assay. Source: HPA

nucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

EGFRP005332EBI-286427,EBI-297353

Alternative products

This entry describes 6 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
Isoform I-214 (identifier: O95704-5)

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.
Isoform I-245 (identifier: O95704-6)

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

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 sequence196 – 21419VHIRV…DRDFA → AVIPTDADPQYLNPWTQIL in isoform I-214.
VSP_047811
Alternative sequence210 – 24536DRDFA…SALHG → SSDVDPGLLPLPGPALVGEG GPSSAGTVWGESERLG in isoform I-245.
VSP_047812
Alternative sequence210 – 2112Missing in isoform I.
VSP_006799
Alternative sequence2101D → PISAPA in isoform III.
VSP_006800
Alternative sequence2101D → DSPISAPA in isoform IV.
VSP_006801
Alternative sequence215 – 486272Missing in isoform I-214.
VSP_047813
Alternative sequence246 – 486241Missing in isoform I-245.
VSP_047814
Natural variant1651G → R.
Corresponds to variant rs7715021 [ dbSNP | Ensembl ].
VAR_029518
Natural variant2311C → R. Ref.1 Ref.2 Ref.4 Ref.5 Ref.6
Corresponds to variant rs250430 [ dbSNP | Ensembl ].
VAR_024702

Secondary structure

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

Details...

Sequences

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

Last modified November 30, 2010. Version 2.
Checksum: 553DFB4D8655EFA1

FASTA48652,585
        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 CCDVPAKAIA 

       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: 2A57615AAA0CF980
Show »

FASTA48452,314
Isoform III [UniParc].

Checksum: 054A8696C11578E2
Show »

FASTA49153,007
Isoform IV [UniParc].

Checksum: 5EC279FAAE2EEF96
Show »

FASTA49353,209
Isoform I-214 [UniParc].

Checksum: FD469DC121C73E6C
Show »

FASTA21423,634
Isoform I-245 [UniParc].

Checksum: 7F460206E4157F6C
Show »

FASTA24526,460

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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS I AND II), VARIANT ARG-231.
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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ARG-231.
[3]"Characterization of an amyloid precursor protein-binding protein Fe65L2 and its novel isoforms lacking phosphotyrosine-interaction domains."
Tanahashi H., Tabira T.
Biochem. J. 367:687-695(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS I-214 AND I-245), SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
Tissue: Brain.
[4]"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), VARIANT ARG-231.
[5]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM II), VARIANT ARG-231.
[6]"The DNA sequence and comparative analysis of human chromosome 5."
Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S. expand/collapse author list , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ARG-231.
[7]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM II).
[9]"Solution structure of the WW domain from the human amyloid beta A4 precursor protein-binding family B member 3, APBB3."
RIKEN structural genomics initiative (RSGI)
Submitted (APR-2008) to the PDB data bank
Cited for: STRUCTURE BY NMR OF 30-61.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_006042.3. NM_006051.3.
NP_573418.2. NM_133172.2.
NP_573419.2. NM_133173.2.
NP_573420.2. NM_133174.2.
UniGeneHs.529449.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2DYQX-ray3.10A281-417[»]
2YSCNMR-A30-61[»]
ProteinModelPortalO95704.
SMRO95704. Positions 31-61, 115-478.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115593. 6 interactions.
IntActO95704. 5 interactions.
MINTMINT-1493083.
STRING9606.ENSP00000346378.

PTM databases

PhosphoSiteO95704.

Proteomic databases

PaxDbO95704.
PRIDEO95704.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000354402; 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]
GeneID10307.
KEGGhsa:10307.
UCSCuc003lgb.1. human. [O95704-1]
uc003lgd.1. human. [O95704-3]
uc003lge.1. human. [O95704-2]
uc021yeg.1. human. [O95704-4]

Organism-specific databases

CTD10307.
GeneCardsGC05M139937.
HGNCHGNC:20708. APBB3.
HPAHPA005571.
MIM602711. gene.
neXtProtNX_O95704.
PharmGKBPA134958636.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG80991.
HOGENOMHOG000033983.
HOVERGENHBG050524.
OMADRNAWVP.
OrthoDBEOG79W94P.
PhylomeDBO95704.
TreeFamTF314331.

Enzyme and pathway databases

SignaLinkO95704.

Gene expression databases

ArrayExpressO95704.
BgeeO95704.
CleanExHS_APBB3.
GenevestigatorO95704.

Family and domain databases

Gene3D2.30.29.30. 2 hits.
InterProIPR011993. PH_like_dom.
IPR006020. PTB/PI_dom.
IPR001202. WW_dom.
[Graphical view]
PfamPF00640. PID. 2 hits.
PF00397. WW. 1 hit.
[Graphical view]
SMARTSM00462. PTB. 2 hits.
SM00456. WW. 1 hit.
[Graphical view]
SUPFAMSSF51045. SSF51045. 1 hit.
PROSITEPS01179. PID. 2 hits.
PS01159. WW_DOMAIN_1. 1 hit.
PS50020. WW_DOMAIN_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSAPBB3. human.
EvolutionaryTraceO95704.
GeneWikiAPBB3.
GenomeRNAi10307.
NextBio39057.
PROO95704.
SOURCESearch...

Entry information

Entry nameAPBB3_HUMAN
AccessionPrimary (citable) accession number: O95704
Secondary accession number(s): B3KQN9 expand/collapse secondary AC list , Q08AG4, Q96Q18, Q9BYD4, Q9NYX6, Q9NYX7, Q9NYX8
Entry history
Integrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: November 30, 2010
Last modified: April 16, 2014
This is version 113 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

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

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 5

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