APBB1

Functionⁱ

Transcription coregulator that can have both coactivator and corepressor functions. Adapter protein that forms a transcriptionally active complex with the gamma-secretase-derived amyloid precursor protein (APP) intracellular domain. Plays a central role in the response to DNA damage by translocating to the nucleus and inducing apoptosis. May act by specifically recognizing and binding histone H2AX phosphorylated on 'Tyr-142' (H2AXY142ph) at double-strand breaks (DSBs), recruiting other pro-apoptosis factors such as MAPK8/JNK1. Required for histone H4 acetylation at double-strand breaks (DSBs). Its ability to specifically bind modified histones and chromatin modifying enzymes such as KAT5/TIP60, probably explains its transcription activation activity. Function in association with TSHZ3, SET and HDAC factors as a transcriptional repressor, that inhibits the expression of CASP4. Associates with chromatin in a region surrounding the CASP4 transcriptional start site(s).6 Publications

GO - Molecular functionⁱ

amyloid-beta binding
Source: UniProtKB
Inferred from physical interactionⁱ
- 18468999
chromatin binding
Source: UniProtKB
Inferred from direct assayⁱ
- 19343227
histone binding
Source: UniProtKB
Inferred from physical interactionⁱ
- 19234442
proline-rich region binding
Source: UniProtKB
Inferred from physical interactionⁱ
- 17686488
protein-containing complex binding Source: Ensembl
tau protein binding Source: Ensembl
transcription factor binding Source: UniProtKB

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

apoptotic process Source: UniProtKB-KW
axonogenesis
Source: UniProtKB
Non-traceable author statementⁱ
- 12843239
cell cycle arrest Source: UniProtKB
cellular response to DNA damage stimulus
Source: UniProtKB
Inferred from direct assayⁱ
- 18468999
double-strand break repair Source: Ensembl
histone H4 acetylation Source: UniProtKB
negative regulation of cell growth Source: UniProtKB
negative regulation of thymidylate synthase biosynthetic process Source: UniProtKB
negative regulation of transcription by RNA polymerase II
Source: ARUK-UCL
Inferred from genetic interactionⁱ
- 21803450
positive regulation of apoptotic process
Source: UniProtKB
Inferred from direct assayⁱ
- 18468999
positive regulation of DNA repair Source: Ensembl
positive regulation of neuron projection development Source: Ensembl
positive regulation of protein secretion Source: Ensembl
positive regulation of transcription, DNA-templated
Source: UniProtKB
Inferred from direct assayⁱ
- 19343227
positive regulation of transcription by RNA polymerase II Source: Ensembl
regulation of transcription, DNA-templated Source: UniProtKB
response to iron ion Source: Ensembl
signal transduction
Source: UniProtKB
Non-traceable author statementⁱ
- 8894693

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Activator, Chromatin regulator, Repressor
Biological process	Apoptosis, DNA damage, Transcription, Transcription regulation

Enzyme and pathway databases

Reactomeⁱ	R-HSA-5693565 Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
SignaLinkⁱ	O00213
SIGNORⁱ	O00213

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Amyloid-beta A4 precursor protein-binding family B member 1 Alternative name(s): Protein Fe65
Gene namesⁱ	Name:APBB1 Synonyms:FE65, RIR
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 11

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000166313.18
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:581 APBB1
MIMⁱ	602709 gene
neXtProtⁱ	NX_O00213

Keywords - Cellular componentⁱ

Cell membrane, Cell projection, Cytoplasm, Membrane, Nucleus

Pathology & Biotechⁱ

Mutagenesis

Feature key	Position(s)	DescriptionActions	Length
Mutagenesisⁱ	117	Y → F: No effect on phosphorylation by ABL1. 1 Publication	1
Mutagenesisⁱ	234	Y → F: No effect on phosphorylation by ABL1. 1 Publication	1
Mutagenesisⁱ	269 – 271	YYW → AAA: Impairs transcriptional activation and inhibits binding to ABL1. 1 Publication	3
Mutagenesisⁱ	269	Y → F: No effect on phosphorylation by ABL1. 1 Publication	1
Mutagenesisⁱ	270	Y → F: No effect on phosphorylation by ABL1. 1 Publication	1
Mutagenesisⁱ	403	Y → F: No effect on phosphorylation by ABL1. 1 Publication	1
Mutagenesisⁱ	467	Y → F: No effect on phosphorylation by ABL1. 1 Publication	1
Mutagenesisⁱ	546	Y → F: No effect on phosphorylation by ABL1. 1 Publication	1
Mutagenesisⁱ	547	Y → F: Abrogates phosphorylation and stimulation of transcription by ABL1, and increases the interaction with RASD1/DEXRAS1. 2 Publications	1
Mutagenesisⁱ	658	Y → F: No effect on phosphorylation by ABL1.	1

Organism-specific databases

DisGeNET More...DisGeNETⁱ	322
Open Targets More...OpenTargetsⁱ	ENSG00000166313
PharmGKBⁱ	PA24873

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000076049	1 – 710	Amyloid-beta A4 precursor protein-binding family B member 1Add BLAST		710

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Modified residueⁱ	517	PhosphoserineBy similarity	1
Modified residueⁱ	547	Phosphotyrosine; by ABL12 Publications	1
Modified residueⁱ	610	Phosphoserine; by SGK1By similarity	1

Post-translational modificationⁱ

Polyubiquitination by RNF157 leads to degradation by the proteasome (PubMed:25342469).1 Publication

Phosphorylation at Ser-610 by SGK1 promotes its localization to the nucleus (By similarity). Phosphorylated following nuclear translocation. Phosphorylation at Tyr-547 by ABL1 enhances transcriptional activation activity and reduces the affinity for RASD1/DEXRAS1.By similarity2 Publications

Keywords - PTMⁱ

Phosphoprotein, Ubl conjugation

Proteomic databases

EPDⁱ	O00213
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	O00213
PaxDbⁱ	O00213
PeptideAtlas More...PeptideAtlasⁱ	O00213
PRIDEⁱ	O00213
ProteomicsDBⁱ	47783 47784 [O00213-2]

PTM databases

iPTMnetⁱ	O00213
PhosphoSitePlusⁱ	O00213

Expressionⁱ

Tissue specificityⁱ

Highly expressed in brain; strongly reduced in post-mortem elderly subjects with Alzheimer disease.1 Publication

Gene expression databases

Bgeeⁱ	ENSG00000166313 Expressed in 199 organ(s), highest expression level in right hemisphere of cerebellum
CleanExⁱ	HS_APBB1
ExpressionAtlasⁱ	O00213 baseline and differential
Genevisibleⁱ	O00213 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	CAB022104 HPA038521 HPA038522

HPAⁱ

CAB022104
HPA038521
HPA038522

Interactionⁱ

Subunit structureⁱ

Component of a complex, at least composed of APBB1, RASD1/DEXRAS1 and APP. Interacts (via PID domain 2) with APP (with the intracellular domain of the amyloid-beta precursor protein). Interacts (via PID domain 2) with RASD1/DEXRAS1; impairs the transcription activation activity. Interacts (via PID domain 1) with KAT5/TIP60. Interacts (via the WW domain) with the proline-rich region of APBB1IP. Interacts with TSHZ1 and TSHZ2 (By similarity). Interacts (via the WW domain) with histone H2AX (when phosphorylated on 'Tyr-142') and the proline-rich region of ENAH. Interacts with MAPK8. Interacts (via PID domain 1) with TSHZ3 (via homeobox domain). Interacts with SET. Found in a trimeric complex with HDAC1 and TSHZ3; the interaction between HDAC1 and APBB1 is mediated by TSHZ3. Interacts (via WWW domain) with NEK6. Interacts (via WWW domain) with ABL1. Interacts with RNF157 (PubMed:25342469).By similarity9 Publications

Binary interactionsⁱ

With	Entry	#Exp.	IntAct
APP	P05067	5	EBI-81694,EBI-77613
APP	P05067-4	2	EBI-81694,EBI-302641
EGFR	P00533	4	EBI-81694,EBI-297353
ERBB2	P04626	2	EBI-81694,EBI-641062
LRP1	Q07954	3	EBI-81694,EBI-1046087

GO - Molecular functionⁱ

histone binding
Source: UniProtKB
Inferred from physical interactionⁱ
- 19234442
proline-rich region binding
Source: UniProtKB
Inferred from physical interactionⁱ
- 17686488
tau protein binding Source: Ensembl
transcription factor binding Source: UniProtKB

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	106819, 99 interactors
CORUMⁱ	O00213
Database of interacting proteins More...DIPⁱ	DIP-30903N
ELMⁱ	O00213
IntActⁱ	O00213, 17 interactors
Molecular INTeraction database More...MINTⁱ	O00213
STRINGⁱ	9606.ENSP00000299402

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Beta strandⁱ	259 – 263	Combined sources	5
Beta strandⁱ	268 – 272	Combined sources	5
Turnⁱ	273 – 275	Combined sources	3
Beta strandⁱ	278 – 281	Combined sources	4
Beta strandⁱ	368 – 379	Combined sources	12
Helixⁱ	382 – 385	Combined sources	4
Turnⁱ	387 – 389	Combined sources	3
Helixⁱ	390 – 401	Combined sources	12
Beta strandⁱ	421 – 427	Combined sources	7
Beta strandⁱ	430 – 434	Combined sources	5
Turnⁱ	436 – 438	Combined sources	3
Beta strandⁱ	441 – 446	Combined sources	6
Helixⁱ	447 – 449	Combined sources	3
Beta strandⁱ	452 – 455	Combined sources	4
Beta strandⁱ	458 – 460	Combined sources	3
Beta strandⁱ	464 – 470	Combined sources	7
Turnⁱ	472 – 474	Combined sources	3
Beta strandⁱ	477 – 486	Combined sources	10
Helixⁱ	488 – 504	Combined sources	17
Beta strandⁱ	544 – 554	Combined sources	11
Helixⁱ	559 – 571	Combined sources	13
Helixⁱ	575 – 577	Combined sources	3
Beta strandⁱ	579 – 585	Combined sources	7
Beta strandⁱ	587 – 594	Combined sources	8
Turnⁱ	595 – 597	Combined sources	3
Beta strandⁱ	600 – 605	Combined sources	6
Helixⁱ	606 – 608	Combined sources	3
Beta strandⁱ	609 – 614	Combined sources	6
Beta strandⁱ	620 – 628	Combined sources	9
Beta strandⁱ	631 – 641	Combined sources	11
Helixⁱ	644 – 665	Combined sources	22

Show more details

3D structure databases

ProteinModelPortalⁱ	O00213
SMRⁱ	O00213
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Miscellaneous databases

EvolutionaryTraceⁱ	O00213

EvolutionaryTraceⁱ

O00213

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Length
Domainⁱ	253 – 285	WWPROSITE-ProRule annotationAdd BLAST	33
Domainⁱ	370 – 509	PID 1PROSITE-ProRule annotationAdd BLAST	140
Domainⁱ	542 – 699	PID 2PROSITE-ProRule annotationAdd BLAST	158

Compositional bias

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Compositional biasⁱ	158 – 171	Glu-richAdd BLAST		14

Keywords - Domainⁱ

Repeat

Phylogenomic databases

eggNOGⁱ	ENOG410IEKA Eukaryota ENOG410YEVS LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000000002
HOGENOMⁱ	HOG000033983
HOVERGENⁱ	HBG050524
InParanoidⁱ	O00213
KEGG Orthology (KO) More...KOⁱ	K04529
PhylomeDBⁱ	O00213
TreeFamⁱ	TF314331

Family and domain databases

Conserved Domains Database More...CDDⁱ	cd00201 WW, 1 hit
Gene3Dⁱ	2.30.29.30, 2 hits
InterProⁱ	View protein in InterPro IPR039576 Fe65 IPR011993 PH-like_dom_sf IPR006020 PTB/PI_dom IPR001202 WW_dom IPR036020 WW_dom_sf
PANTHERⁱ	PTHR14058 PTHR14058, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00640 PID, 2 hits PF00397 WW, 1 hit
SMARTⁱ	View protein in SMART SM00462 PTB, 2 hits SM00456 WW, 1 hit
SUPFAMⁱ	SSF51045 SSF51045, 1 hit
PROSITEⁱ	View 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. Align Add to basket

This entry has 6 described isoforms and 7 potential isoforms that are computationally mapped.Show all Align All

Isoform 1 (identifier: O00213-1) [UniParc]FASTA Add 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
MSVPSSLSQS AINANSHGGP ALSLPLPLHA AHNQLLNAKL QATAVGPKDL 
        60         70         80         90        100
RSAMGEGGGP EPGPANAKWL KEGQNQLRRA ATAHRDQNRN VTLTLAEEAS 
       110        120        130        140        150
QEPEMAPLGP KGLIHLYSEL ELSAHNAANR GLRGPGLIIS TQEQGPDEGE 
       160        170        180        190        200
EKAAGEAEEE EEDDDDEEEE EDLSSPPGLP EPLESVEAPP RPQALTDGPR 
       210        220        230        240        250
EHSKSASLLF GMRNSAASDE DSSWATLSQG SPSYGSPEDT DSFWNPNAFE 
       260        270        280        290        300
TDSDLPAGWM RVQDTSGTYY WHIPTGTTQW EPPGRASPSQ GSSPQEESQL 
       310        320        330        340        350
TWTGFAHGEG FEDGEFWKDE PSDEAPMELG LKEPEEGTLT FPAQSLSPEP 
       360        370        380        390        400
LPQEEEKLPP RNTNPGIKCF AVRSLGWVEM TEEELAPGRS SVAVNNCIRQ 
       410        420        430        440        450
LSYHKNNLHD PMSGGWGEGK DLLLQLEDET LKLVEPQSQA LLHAQPIISI 
       460        470        480        490        500
RVWGVGRDSG RERDFAYVAR DKLTQMLKCH VFRCEAPAKN IATSLHEICS 
       510        520        530        540        550
KIMAERRNAR CLVNGLSLDH SKLVDVPFQV EFPAPKNELV QKFQVYYLGN 
       560        570        580        590        600
VPVAKPVGVD VINGALESVL SSSSREQWTP SHVSVAPATL TILHQQTEAV 
       610        620        630        640        650
LGECRVRFLS FLAVGRDVHT FAFIMAAGPA SFCCHMFWCE PNAASLSEAV 
       660        670        680        690        700
QAACMLRYQK CLDARSQAST SCLPAPPAES VARRVGWTVR RGVQSLWGSL 
       710
KPKRLGAHTP

Length:710

Mass (Da):77,244

Last modified:June 1, 1998 - v2

Checksum:ⁱFD4A2EF7E8D8E884

GO

Isoform 2 (identifier: O00213-2) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
462-463: Missing.

« Hide

        10         20         30         40         50
MSVPSSLSQS AINANSHGGP ALSLPLPLHA AHNQLLNAKL QATAVGPKDL 
        60         70         80         90        100
RSAMGEGGGP EPGPANAKWL KEGQNQLRRA ATAHRDQNRN VTLTLAEEAS 
       110        120        130        140        150
QEPEMAPLGP KGLIHLYSEL ELSAHNAANR GLRGPGLIIS TQEQGPDEGE 
       160        170        180        190        200
EKAAGEAEEE EEDDDDEEEE EDLSSPPGLP EPLESVEAPP RPQALTDGPR 
       210        220        230        240        250
EHSKSASLLF GMRNSAASDE DSSWATLSQG SPSYGSPEDT DSFWNPNAFE 
       260        270        280        290        300
TDSDLPAGWM RVQDTSGTYY WHIPTGTTQW EPPGRASPSQ GSSPQEESQL 
       310        320        330        340        350
TWTGFAHGEG FEDGEFWKDE PSDEAPMELG LKEPEEGTLT FPAQSLSPEP 
       360        370        380        390        400
LPQEEEKLPP RNTNPGIKCF AVRSLGWVEM TEEELAPGRS SVAVNNCIRQ 
       410        420        430        440        450
LSYHKNNLHD PMSGGWGEGK DLLLQLEDET LKLVEPQSQA LLHAQPIISI 
       460        470        480        490        500
RVWGVGRDSG RDFAYVARDK LTQMLKCHVF RCEAPAKNIA TSLHEICSKI 
       510        520        530        540        550
MAERRNARCL VNGLSLDHSK LVDVPFQVEF PAPKNELVQK FQVYYLGNVP 
       560        570        580        590        600
VAKPVGVDVI NGALESVLSS SSREQWTPSH VSVAPATLTI LHQQTEAVLG 
       610        620        630        640        650
ECRVRFLSFL AVGRDVHTFA FIMAAGPASF CCHMFWCEPN AASLSEAVQA 
       660        670        680        690        700
ACMLRYQKCL DARSQASTSC LPAPPAESVA RRVGWTVRRG VQSLWGSLKP 

KRLGAHTP

Show »

Length:708

Mass (Da):76,959

Checksum:ⁱFC578B7688BCC1A0

GO

Isoform 3 (identifier: O00213-3) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-213: Missing.
     214-240: NSAASDEDSSWATLSQGSPSYGSPEDT → MSAMFSQDFFLAIILQDSSA
     462-463: Missing.

« Hide

        10         20         30         40         50
MSAMFSQDFF LAIILQDSSA DSFWNPNAFE TDSDLPAGWM RVQDTSGTYY 
        60         70         80         90        100
WHIPTGTTQW EPPGRASPSQ GSSPQEESQL TWTGFAHGEG FEDGEFWKDE 
       110        120        130        140        150
PSDEAPMELG LKEPEEGTLT FPAQSLSPEP LPQEEEKLPP RNTNPGIKCF 
       160        170        180        190        200
AVRSLGWVEM TEEELAPGRS SVAVNNCIRQ LSYHKNNLHD PMSGGWGEGK 
       210        220        230        240        250
DLLLQLEDET LKLVEPQSQA LLHAQPIISI RVWGVGRDSG RDFAYVARDK 
       260        270        280        290        300
LTQMLKCHVF RCEAPAKNIA TSLHEICSKI MAERRNARCL VNGLSLDHSK 
       310        320        330        340        350
LVDVPFQVEF PAPKNELVQK FQVYYLGNVP VAKPVGVDVI NGALESVLSS 
       360        370        380        390        400
SSREQWTPSH VSVAPATLTI LHQQTEAVLG ECRVRFLSFL AVGRDVHTFA 
       410        420        430        440        450
FIMAAGPASF CCHMFWCEPN AASLSEAVQA ACMLRYQKCL DARSQASTSC 
       460        470        480 
LPAPPAESVA RRVGWTVRRG VQSLWGSLKP KRLGAHTP

Show »

Length:488

Mass (Da):53,927

Checksum:ⁱ72DB1DFEA0886C91

GO

Isoform 4 (identifier: O00213-4) [UniParc]FASTA Add to basket

Also known as: p60Fe65

The sequence of this isoform differs from the canonical sequence as follows:
1-259: Missing.

« Hide

        10         20         30         40         50
MRVQDTSGTY YWHIPTGTTQ WEPPGRASPS QGSSPQEESQ LTWTGFAHGE 
        60         70         80         90        100
GFEDGEFWKD EPSDEAPMEL GLKEPEEGTL TFPAQSLSPE PLPQEEEKLP 
       110        120        130        140        150
PRNTNPGIKC FAVRSLGWVE MTEEELAPGR SSVAVNNCIR QLSYHKNNLH 
       160        170        180        190        200
DPMSGGWGEG KDLLLQLEDE TLKLVEPQSQ ALLHAQPIIS IRVWGVGRDS 
       210        220        230        240        250
GRERDFAYVA RDKLTQMLKC HVFRCEAPAK NIATSLHEIC SKIMAERRNA 
       260        270        280        290        300
RCLVNGLSLD HSKLVDVPFQ VEFPAPKNEL VQKFQVYYLG NVPVAKPVGV 
       310        320        330        340        350
DVINGALESV LSSSSREQWT PSHVSVAPAT LTILHQQTEA VLGECRVRFL 
       360        370        380        390        400
SFLAVGRDVH TFAFIMAAGP ASFCCHMFWC EPNAASLSEA VQAACMLRYQ 
       410        420        430        440        450
KCLDARSQAS TSCLPAPPAE SVARRVGWTV RRGVQSLWGS LKPKRLGAHT 

P

Note: Expressed preferentially in the brain.

Show »

Length:451

Mass (Da):49,857

Checksum:ⁱ14AE683C4BD3A6D5

GO

Isoform 5 (identifier: O00213-5) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
1-213: Missing.
214-240: NSAASDEDSSWATLSQGSPSYGSPEDT → MSAMFSQDFFLAIILQDSSA

« Hide

        10         20         30         40         50
MSAMFSQDFF LAIILQDSSA DSFWNPNAFE TDSDLPAGWM RVQDTSGTYY 
        60         70         80         90        100
WHIPTGTTQW EPPGRASPSQ GSSPQEESQL TWTGFAHGEG FEDGEFWKDE 
       110        120        130        140        150
PSDEAPMELG LKEPEEGTLT FPAQSLSPEP LPQEEEKLPP RNTNPGIKCF 
       160        170        180        190        200
AVRSLGWVEM TEEELAPGRS SVAVNNCIRQ LSYHKNNLHD PMSGGWGEGK 
       210        220        230        240        250
DLLLQLEDET LKLVEPQSQA LLHAQPIISI RVWGVGRDSG RERDFAYVAR 
       260        270        280        290        300
DKLTQMLKCH VFRCEAPAKN IATSLHEICS KIMAERRNAR CLVNGLSLDH 
       310        320        330        340        350
SKLVDVPFQV EFPAPKNELV QKFQVYYLGN VPVAKPVGVD VINGALESVL 
       360        370        380        390        400
SSSSREQWTP SHVSVAPATL TILHQQTEAV LGECRVRFLS FLAVGRDVHT 
       410        420        430        440        450
FAFIMAAGPA SFCCHMFWCE PNAASLSEAV QAACMLRYQK CLDARSQAST 
       460        470        480        490
SCLPAPPAES VARRVGWTVR RGVQSLWGSL KPKRLGAHTP

Note: No experimental confirmation available.

Show »

Length:490

Mass (Da):54,212

Checksum:ⁱ1996107B7E50C0B0

GO

Isoform 6 (identifier: O00213-6) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
1-240: MSVPSSLSQS...SPSYGSPEDT → MTQMR

« Hide

        10         20         30         40         50
MTQMRDSFWN PNAFETDSDL PAGWMRVQDT SGTYYWHIPT GTTQWEPPGR 
        60         70         80         90        100
ASPSQGSSPQ EESQLTWTGF AHGEGFEDGE FWKDEPSDEA PMELGLKEPE 
       110        120        130        140        150
EGTLTFPAQS LSPEPLPQEE EKLPPRNTNP GIKCFAVRSL GWVEMTEEEL 
       160        170        180        190        200
APGRSSVAVN NCIRQLSYHK NNLHDPMSGG WGEGKDLLLQ LEDETLKLVE 
       210        220        230        240        250
PQSQALLHAQ PIISIRVWGV GRDSGRERDF AYVARDKLTQ MLKCHVFRCE 
       260        270        280        290        300
APAKNIATSL HEICSKIMAE RRNARCLVNG LSLDHSKLVD VPFQVEFPAP 
       310        320        330        340        350
KNELVQKFQV YYLGNVPVAK PVGVDVINGA LESVLSSSSR EQWTPSHVSV 
       360        370        380        390        400
APATLTILHQ QTEAVLGECR VRFLSFLAVG RDVHTFAFIM AAGPASFCCH 
       410        420        430        440        450
MFWCEPNAAS LSEAVQAACM LRYQKCLDAR SQASTSCLPA PPAESVARRV 
       460        470 
GWTVRRGVQS LWGSLKPKRL GAHTP

Note: No experimental confirmation available.

Show »

Length:475

Mass (Da):52,656

Checksum:ⁱC01AD5CED5941D94

GO

Computationally mapped potential isoform sequencesⁱ

There are 7 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

J3KPL8	J3KPL8_HUMAN	Amyloid-beta A4 precursor protein-b... Amyloid-beta A4 precursor protein-binding family B member 1	APBB1	710	Annotation score:
V9GY97	V9GY97_HUMAN	Amyloid-beta A4 precursor protein-b... Amyloid-beta A4 precursor protein-binding family B member 1	APBB1	261	Annotation score:
A0A087WYH9	A0A087WYH9_HUMAN	Amyloid-beta A4 precursor protein-b... Amyloid-beta A4 precursor protein-binding family B member 1	APBB1	475	Annotation score:
A0A087X0V7	A0A087X0V7_HUMAN	Amyloid-beta A4 precursor protein-b... Amyloid-beta A4 precursor protein-binding family B member 1	APBB1	451	Annotation score:
A0A075B7G8	A0A075B7G8_HUMAN	Amyloid-beta A4 precursor protein-b... Amyloid-beta A4 precursor protein-binding family B member 1	APBB1	706	Annotation score:
V9GYR7	V9GYR7_HUMAN	Amyloid-beta A4 precursor protein-b... Amyloid-beta A4 precursor protein-binding family B member 1	APBB1	235	Annotation score:
V9GYD5	V9GYD5_HUMAN	Amyloid-beta A4 precursor protein-b... Amyloid-beta A4 precursor protein-binding family B member 1	APBB1	87	Annotation score:

Sequence cautionⁱ

The sequence CAD98057 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Sequence conflictⁱ	367	I → T in BAH11532 (PubMed:14702039).Curated		1
Sequence conflictⁱ	493	T → A in BAH11532 (PubMed:14702039).Curated		1

Natural variant

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_014444	327	M → V. Corresponds to variant dbSNP:rs1800423Ensembl.		1
Natural variantⁱVAR_014445	396	N → S. Corresponds to variant dbSNP:rs1800425Ensembl.		1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Length
Alternative sequenceⁱVSP_047459	1 – 259	Missing in isoform 4. 2 PublicationsAdd BLAST	259
Alternative sequenceⁱVSP_054709	1 – 240	MSVPS…SPEDT → MTQMR in isoform 6. 1 PublicationAdd BLAST	240
Alternative sequenceⁱVSP_045326	1 – 213	Missing in isoform 3 and isoform 5. 2 PublicationsAdd BLAST	213
Alternative sequenceⁱVSP_045327	214 – 240	NSAAS…SPEDT → MSAMFSQDFFLAIILQDSSA in isoform 3 and isoform 5. 2 PublicationsAdd BLAST	27
Alternative sequenceⁱVSP_011658	462 – 463	Missing in isoform 2 and isoform 3. 2 Publications	2

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	L77864 mRNA Translation: AAB93631.1 AF029234, AF047835 Genomic DNA Translation: AAC79942.1 EF103274 mRNA Translation: ABL07489.3 AK293550 mRNA Translation: BAH11531.1 AK293554 mRNA Translation: BAH11532.1 AK293643 mRNA Translation: BAH11554.1 AK295241 mRNA Translation: BAH12016.1 BX538185 mRNA Translation: CAD98057.1 Different initiation. AC068733 Genomic DNA No translation available. AC084337 Genomic DNA No translation available. CH471064 Genomic DNA Translation: EAW68723.1 CH471064 Genomic DNA Translation: EAW68724.1 BC010854 mRNA Translation: AAH10854.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS31410.1 [O00213-2] CCDS58114.1 [O00213-3] CCDS66015.1 [O00213-4] CCDS66016.1 [O00213-6] CCDS66017.1 [O00213-5] CCDS66018.1 [O00213-1]
NCBI Reference Sequences More...RefSeqⁱ	NP_001155.1, NM_001164.4 [O00213-1] NP_001244248.1, NM_001257319.2 [O00213-5] NP_001244249.1, NM_001257320.2 [O00213-4] NP_001244250.1, NM_001257321.2 [O00213-4] NP_001244252.1, NM_001257323.2 [O00213-3] NP_001244254.1, NM_001257325.2 [O00213-6] NP_001244255.1, NM_001257326.2 [O00213-4] NP_663722.1, NM_145689.2 [O00213-2] XP_011518342.1, XM_011520040.2 [O00213-4] XP_016873130.1, XM_017017641.1 [O00213-2]
UniGeneⁱ	Hs.372840

Genome annotation databases

Ensemblⁱ	ENST00000299402; ENSP00000299402; ENSG00000166313 [O00213-2] ENST00000311051; ENSP00000311912; ENSG00000166313 [O00213-2] ENST00000530885; ENSP00000433338; ENSG00000166313 [O00213-3] ENST00000608394; ENSP00000476442; ENSG00000166313 [O00213-4] ENST00000608645; ENSP00000476646; ENSG00000166313 [O00213-4] ENST00000608655; ENSP00000476846; ENSG00000166313 [O00213-5] ENST00000608704; ENSP00000476871; ENSG00000166313 [O00213-4] ENST00000609331; ENSP00000477069; ENSG00000166313 [O00213-6] ENST00000609360; ENSP00000477213; ENSG00000166313 [O00213-1]
GeneIDⁱ	322
KEGGⁱ	hsa:322
UCSC genome browser More...UCSCⁱ	uc001mdb.4 human [O00213-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
O00213	APBB1 isoform 10		PANTR		451	UniRef100_O00213
APBB1 isoform 10		PONAB		451
Isoform 4 of Amyloid-beta A4 precursor protein-binding family B member 1		HUMAN		451
UPI0003EAF373		HUMAN		802
O00213-3	APBB1 isoform 14		PONAB		488	UniRef100_A0A2J8SVQ2
APBB1 isoform 14		PANTR		488
O00213-5	APBB1 isoform 16		PANTR		490	UniRef100_A0A2I3RA00
APBB1 isoform 16		PONAB		490
Uncharacterized protein		PANPA		490
O00213-6	APBB1 isoform 21		PANTR		475	UniRef100_A0A2I3SD44
APBB1 isoform 21		PONAB		475

Protein	Similar proteins		Species	Score	Length	Source
O00213	APBB1 isoform 10		PANTR		451	UniRef90_O00213
APBB1 isoform 10		PONAB		451
Isoform 4 of Amyloid-beta A4 precursor protein-binding family B member 1		HUMAN		451
Uncharacterized protein		AOTNA		718
Uncharacterized protein		PROCO		714
+22
O00213-2	Amyloid-beta A4 precursor protein-binding family B member 1		RAT		711	UniRef90_O00213-2
Amyloid-beta A4 precursor protein-binding family B member 1		MOUSE		710
Uncharacterized protein		FELCA		775
Uncharacterized protein		RABIT		762
Uncharacterized protein		PIG		734
+324
O00213-3	Uncharacterized protein		CHLSB		488	UniRef90_A0A0D9QWC3
cDNA FLJ58369, highly similar to Amyloid beta A4 protein-binding family B member 1		HUMAN		499
Uncharacterized protein		PROCO		491
Uncharacterized protein		COLAP		490
Uncharacterized protein		RHIRO		490
+176
O00213-5	Uncharacterized protein		CHLSB		488	UniRef90_A0A0D9QWC3
cDNA FLJ58369, highly similar to Amyloid beta A4 protein-binding family B member 1		HUMAN		499
Uncharacterized protein		PROCO		491
Uncharacterized protein		COLAP		490
Uncharacterized protein		RHIRO		490
+176
O00213-6	Uncharacterized protein		CHLSB		488	UniRef90_A0A0D9QWC3
cDNA FLJ58369, highly similar to Amyloid beta A4 protein-binding family B member 1		HUMAN		499
Uncharacterized protein		PROCO		491
Uncharacterized protein		COLAP		490
Uncharacterized protein		RHIRO		490
+176

Protein	Similar proteins		Species	Score	Length	Source
O00213	Amyloid-beta A4 precursor protein-binding family B member 1		RAT		711	UniRef50_O00213
Amyloid-beta A4 precursor protein-binding family B member 1		MOUSE		710
APBB1 isoform 10		PANTR		451
APBB1 isoform 10		PONAB		451
Isoform 4 of Amyloid-beta A4 precursor protein-binding family B member 1		HUMAN		451
+401
O00213-3	Amyloid beta precursor protein binding family B member 1		MYOLU		689	UniRef50_G1PJV2
Amyloid beta A4 protein-binding family B member 1		TUPCH		658
amyloid beta A4 precursor protein-binding family B member 1 isoform X4		LIPVE		560
cDNA FLJ53874, highly similar to Amyloid beta A4 protein-binding family B member 1		HUMAN		559
Uncharacterized protein		PROCO		491
+208
O00213-5	Amyloid beta precursor protein binding family B member 1		MYOLU		689	UniRef50_G1PJV2
Amyloid beta A4 protein-binding family B member 1		TUPCH		658
amyloid beta A4 precursor protein-binding family B member 1 isoform X4		LIPVE		560
cDNA FLJ53874, highly similar to Amyloid beta A4 protein-binding family B member 1		HUMAN		559
Uncharacterized protein		PROCO		491
+208
O00213-6	Amyloid beta precursor protein binding family B member 1		MYOLU		689	UniRef50_G1PJV2
Amyloid beta A4 protein-binding family B member 1		TUPCH		658
amyloid beta A4 precursor protein-binding family B member 1 isoform X4		LIPVE		560
cDNA FLJ53874, highly similar to Amyloid beta A4 protein-binding family B member 1		HUMAN		559
Uncharacterized protein		PROCO		491
+208

Cross-referencesⁱ

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	L77864 mRNA Translation: AAB93631.1 AF029234, AF047835 Genomic DNA Translation: AAC79942.1 EF103274 mRNA Translation: ABL07489.3 AK293550 mRNA Translation: BAH11531.1 AK293554 mRNA Translation: BAH11532.1 AK293643 mRNA Translation: BAH11554.1 AK295241 mRNA Translation: BAH12016.1 BX538185 mRNA Translation: CAD98057.1 Different initiation. AC068733 Genomic DNA No translation available. AC084337 Genomic DNA No translation available. CH471064 Genomic DNA Translation: EAW68723.1 CH471064 Genomic DNA Translation: EAW68724.1 BC010854 mRNA Translation: AAH10854.1
CCDSⁱ	CCDS31410.1 [O00213-2] CCDS58114.1 [O00213-3] CCDS66015.1 [O00213-4] CCDS66016.1 [O00213-6] CCDS66017.1 [O00213-5] CCDS66018.1 [O00213-1]
RefSeqⁱ	NP_001155.1, NM_001164.4 [O00213-1] NP_001244248.1, NM_001257319.2 [O00213-5] NP_001244249.1, NM_001257320.2 [O00213-4] NP_001244250.1, NM_001257321.2 [O00213-4] NP_001244252.1, NM_001257323.2 [O00213-3] NP_001244254.1, NM_001257325.2 [O00213-6] NP_001244255.1, NM_001257326.2 [O00213-4] NP_663722.1, NM_145689.2 [O00213-2] XP_011518342.1, XM_011520040.2 [O00213-4] XP_016873130.1, XM_017017641.1 [O00213-2]
UniGeneⁱ	Hs.372840

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	2E45	NMR	-	A	241-290	[»]
	2HO2	X-ray	1.33	A	253-289	[»]
	2IDH	X-ray	2.28	A/B/C/D/E/F/G/H	253-289	[»]
	2OEI	X-ray	1.35	A	253-289	[»]
	3D8D	X-ray	2.20	A/B	366-505	[»]
	3D8E	X-ray	2.80	A/B/C/D	366-505	[»]
	3D8F	X-ray	2.70	A/B/C/D	366-505	[»]
	3DXC	X-ray	2.10	A/C	534-667	[»]
	3DXD	X-ray	2.20	A/C	534-667	[»]
	3DXE	X-ray	2.00	A/C	534-667	[»]
	5NQH	X-ray	2.60	A/B/C/D	534-667	[»]
ProteinModelPortalⁱ	O00213
SMRⁱ	O00213
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	106819, 99 interactors
CORUMⁱ	O00213
DIPⁱ	DIP-30903N
ELMⁱ	O00213
IntActⁱ	O00213, 17 interactors
MINTⁱ	O00213
STRINGⁱ	9606.ENSP00000299402

PTM databases

iPTMnetⁱ	O00213
PhosphoSitePlusⁱ	O00213

Proteomic databases

EPDⁱ	O00213
MaxQBⁱ	O00213
PaxDbⁱ	O00213
PeptideAtlasⁱ	O00213
PRIDEⁱ	O00213
ProteomicsDBⁱ	47783 47784 [O00213-2]

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	322
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000299402; ENSP00000299402; ENSG00000166313 [O00213-2] ENST00000311051; ENSP00000311912; ENSG00000166313 [O00213-2] ENST00000530885; ENSP00000433338; ENSG00000166313 [O00213-3] ENST00000608394; ENSP00000476442; ENSG00000166313 [O00213-4] ENST00000608645; ENSP00000476646; ENSG00000166313 [O00213-4] ENST00000608655; ENSP00000476846; ENSG00000166313 [O00213-5] ENST00000608704; ENSP00000476871; ENSG00000166313 [O00213-4] ENST00000609331; ENSP00000477069; ENSG00000166313 [O00213-6] ENST00000609360; ENSP00000477213; ENSG00000166313 [O00213-1]
GeneIDⁱ	322
KEGGⁱ	hsa:322
UCSCⁱ	uc001mdb.4 human [O00213-1]

Organism-specific databases

CTDⁱ	322
DisGeNETⁱ	322
EuPathDBⁱ	HostDB:ENSG00000166313.18
GeneCardsⁱ	APBB1
H-InvDBⁱ	HIX0009398
HGNCⁱ	HGNC:581 APBB1
HPAⁱ	CAB022104 HPA038521 HPA038522
MIMⁱ	602709 gene
neXtProtⁱ	NX_O00213
OpenTargetsⁱ	ENSG00000166313
PharmGKBⁱ	PA24873
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	ENOG410IEKA Eukaryota ENOG410YEVS LUCA
GeneTreeⁱ	ENSGT00390000000002
HOGENOMⁱ	HOG000033983
HOVERGENⁱ	HBG050524
InParanoidⁱ	O00213
KOⁱ	K04529
PhylomeDBⁱ	O00213
TreeFamⁱ	TF314331

Enzyme and pathway databases

Reactomeⁱ	R-HSA-5693565 Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
SignaLinkⁱ	O00213
SIGNORⁱ	O00213

Miscellaneous databases

ChiTaRSⁱ	APBB1 human
EvolutionaryTraceⁱ	O00213
GeneWikiⁱ	APBB1
GenomeRNAiⁱ	322
Protein Ontology More...PROⁱ	PR:O00213
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000166313 Expressed in 199 organ(s), highest expression level in right hemisphere of cerebellum
CleanExⁱ	HS_APBB1
ExpressionAtlasⁱ	O00213 baseline and differential
Genevisibleⁱ	O00213 HS

Family and domain databases

CDDⁱ	cd00201 WW, 1 hit
Gene3Dⁱ	2.30.29.30, 2 hits
InterProⁱ	View protein in InterPro IPR039576 Fe65 IPR011993 PH-like_dom_sf IPR006020 PTB/PI_dom IPR001202 WW_dom IPR036020 WW_dom_sf
PANTHERⁱ	PTHR14058 PTHR14058, 1 hit
Pfamⁱ	View protein in Pfam PF00640 PID, 2 hits PF00397 WW, 1 hit
SMARTⁱ	View protein in SMART SM00462 PTB, 2 hits SM00456 WW, 1 hit
SUPFAMⁱ	SSF51045 SSF51045, 1 hit
PROSITEⁱ	View protein in PROSITE PS01179 PID, 2 hits PS01159 WW_DOMAIN_1, 1 hit PS50020 WW_DOMAIN_2, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	APBB1_HUMAN
Accessionⁱ	O00213Primary (citable) accession number: O00213 Secondary accession number(s): A1E379 V9GYT4
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	January 11, 2001
	Last sequence update:	June 1, 1998
	Last modified:	November 7, 2018
	This is version 175 of the entry and version 2 of the sequence. See complete history.
Entry statusⁱ	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.

Miscellaneousⁱ

Keywords - Technical termⁱ

3D-structure, Complete proteome, Reference proteome

Documents

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
Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM

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UniProtKB - O00213 (APBB1_HUMAN)

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Amyloid-beta A4 precursor protein-binding family B member 1

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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Keywords - Cellular componenti

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GO - Molecular functioni

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<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

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<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

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Keywords - Domaini

Phylogenomic databases

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<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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Keywords - Coding sequence diversityi

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

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GO - Molecular functionⁱ

Structureⁱ

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Keywords - Domainⁱ

Sequence cautionⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ