O95704 (APBB3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	486 AA.
Sequence status	Complete.
Protein existence	Evidence 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.
Tissue specificity	Expressed in various tissues.
Sequence similarities	Contains 2 PID domains. Contains 1 WW domain.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Cellular component	actin cytoskeleton Inferred from direct assay. Source: HPA cytoplasm Inferred from direct assay. Source: HPA
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 key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 486

486

Amyloid beta A4 precursor protein-binding family B member 3

PRO_0000076054

Regions

Domain

29 – 61

33

WW

Domain

113 – 280

168

PID 1

Domain

285 – 440

156

PID 2

Natural variations

Alternative sequence

210 – 211

2

Missing in isoform I.

VSP_006799

Alternative sequence

210

1

D → PISAPA in isoform III.

VSP_006800

Alternative sequence

210

1

D → DSPISAPA in isoform IV.

VSP_006801

Natural variant

165

1

G → R.
Corresponds to variant rs7715021 [ dbSNP | Ensembl ].

VAR_029518

Natural variant

231

1

C → R. Ref.1 Ref.2 Ref.3 Ref.4 Ref.5
Corresponds to variant rs250430 [ dbSNP | Ensembl ].

VAR_024702

Secondary structure

1

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486

Helix Strand Turn

Details...

Beta strand

292 – 304

13

Helix

307 – 318

12

Beta strand

327 – 333

7

Beta strand

335 – 342

8

Beta strand

354 – 358

5

Helix

359 – 361

3

Beta strand

362 – 367

6

Beta strand

373 – 379

7

Beta strand

381 – 383

3

Beta strand

385 – 391

7

Helix

397 – 415

19

Sequences

	Sequence		Length	Mass (Da)
	Isoform II [UniParc]. Last modified November 30, 2010. Version 2. Checksum: 553DFB4D8655EFA1	FASTA	486	52,585
	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
	Isoform I [UniParc]. Checksum: 2A57615AAA0CF980	FASTA	484	52,314
	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 FAFVASDKDS CMLKCHVFCC DVPAKAIASA 250 260 270 280 290 300 LHGLCAQILS ERVEVSGDAS CCSPDPISPE DLPRQVELLD AVSQAAQKYE ALYMGTLPVT 310 320 330 340 350 360 KAMGMDVLNE AIGTLTARGD RNAWVPTMLS VSDSLMTAHP IQAEASTEEE PLWQCPVRLV 370 380 390 400 410 420 TFIGVGRDPH TFGLIADLGR QSFQCAAFWC QPHAGGLSEA VQAACMVQYQ KCLVASAARG 430 440 450 460 470 480 KAWGAQARAR LRLKRTSSMD SPGGPLPLPL LKGGVGGAGA TPRKRGVFSF LDAFRLKPSL LHMP
	Isoform III [UniParc]. Checksum: 054A8696C11578E2	FASTA	491	53,007
	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 WGVGSSKGRP ISAPARDFAF VASDKDSCML KCHVFCCDVP 250 260 270 280 290 300 AKAIASALHG LCAQILSERV EVSGDASCCS PDPISPEDLP RQVELLDAVS QAAQKYEALY 310 320 330 340 350 360 MGTLPVTKAM GMDVLNEAIG TLTARGDRNA WVPTMLSVSD SLMTAHPIQA EASTEEEPLW 370 380 390 400 410 420 QCPVRLVTFI GVGRDPHTFG LIADLGRQSF QCAAFWCQPH AGGLSEAVQA ACMVQYQKCL 430 440 450 460 470 480 VASAARGKAW GAQARARLRL KRTSSMDSPG GPLPLPLLKG GVGGAGATPR KRGVFSFLDA 490 FRLKPSLLHM P
	Isoform IV [UniParc]. Checksum: 5EC279FAAE2EEF96	FASTA	493	53,209
	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 SPISAPARDF AFVASDKDSC MLKCHVFCCD 250 260 270 280 290 300 VPAKAIASAL HGLCAQILSE RVEVSGDASC CSPDPISPED LPRQVELLDA VSQAAQKYEA 310 320 330 340 350 360 LYMGTLPVTK AMGMDVLNEA IGTLTARGDR NAWVPTMLSV SDSLMTAHPI QAEASTEEEP 370 380 390 400 410 420 LWQCPVRLVT FIGVGRDPHT FGLIADLGRQ SFQCAAFWCQ PHAGGLSEAV QAACMVQYQK 430 440 450 460 470 480 CLVASAARGK AWGAQARARL RLKRTSSMDS PGGPLPLPLL KGGVGGAGAT PRKRGVFSFL 490 DAFRLKPSLL HMP

References

	« Hide 'large scale' referencesShow '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), 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: 10329396] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ARG-231.
[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), VARIANT ARG-231.
[4]	"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. , 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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM II), VARIANT ARG-231.
[5]	"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. , 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: 15372022] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ARG-231.
[6]	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. , 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].
[7]	"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).
[8]	"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.
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.
CH471062 Genomic DNA. Translation: EAW62041.1.
BC125187 mRNA. Translation: AAI25188.1.

IPI

IPI00032785.
IPI00218293.
IPI00218294.
IPI00218296.

RefSeq

NP_006042.3. NM_006051.3.
NP_573418.2. NM_133172.2.
NP_573419.2. NM_133173.2.
NP_573420.2. NM_133174.2.

UniGene

Hs.529449.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2DYQ	X-ray	3.10	A	281-417	[»]
2YSC	NMR	-	A	30-61	[»]

ProteinModelPortal

O95704.

SMR

O95704. Positions 31-61, 115-478.

ModBase

Search...

Protein-protein interaction databases

IntAct

O95704. 3 interactions.

MINT

MINT-1493083.

STRING

O95704.

PTM databases

PhosphoSite

O95704.

Proteomic databases

PRIDE

O95704.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000412920; ENSP00000402591; ENSG00000113108.

GeneID

10307.

KEGG

hsa:10307.

UCSC

uc003lgd.1. human.
uc010jfn.1. human.

Organism-specific databases

CTD

10307.

GeneCards

GC05M139918.

H-InvDB

HIX0005232.

HGNC

HGNC:20708. APBB3.

HPA

HPA005571.

MIM

602711. gene.

neXtProt

NX_O95704.

PharmGKB

PA134958636.

GenAtlas

Search...

Phylogenomic databases

eggNOG

prNOG19701.

HOVERGEN

HBG050524.

OMA

CQPHAGG.

Gene expression databases

ArrayExpress

O95704.

Bgee

O95704.

CleanEx

HS_APBB3.

Genevestigator

O95704.

GermOnline

ENSG00000113108. Homo sapiens.

Family and domain databases

InterPro

IPR011993. PH_type.
IPR006020. PTyr_interaction_dom.
IPR001202. WW_Rsp5_WWP.
[Graphical view]

Gene3D

G3DSA:2.20.70.10. G3DSA:2.20.70.10. 1 hit.
G3DSA:2.30.29.30. PH_type. 2 hits.

Pfam

PF00640. PID. 2 hits.
PF00397. WW. 1 hit.
[Graphical view]

SMART

SM00462. PTB. 2 hits.
SM00456. WW. 1 hit.
[Graphical view]

SUPFAM

SSF51045. WW_Rsp5_WWP. 1 hit.

PROSITE

PS01179. PID. 2 hits.
PS01159. WW_DOMAIN_1. 1 hit.
PS50020. WW_DOMAIN_2. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

SOURCE

Search...

Entry information

Entry name

APBB3_HUMAN

Accession

Primary (citable) accession number: O95704
Secondary accession number(s): B3KQN9 , Q08AG4, Q9NYX6, Q9NYX7, Q9NYX8

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 11, 2001
Last sequence update:	November 30, 2010
Last modified:	January 25, 2012
This is version 91 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.