Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Amyloid beta A4 precursor protein-binding family B member 1

Gene

APBB1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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).5 Publications

GO - Molecular functioni

  • beta-amyloid binding Source: UniProtKB
  • chromatin binding Source: UniProtKB
  • histone binding Source: UniProtKB
  • proline-rich region binding Source: UniProtKB
  • transcription factor binding Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Activator, Chromatin regulator, Repressor

Keywords - Biological processi

Apoptosis, DNA damage, Transcription, Transcription regulation

Enzyme and pathway databases

BioCyciZFISH:ENSG00000166313-MONOMER.
ReactomeiR-HSA-5693565. Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks.
SignaLinkiO00213.
SIGNORiO00213.

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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:581. APBB1.

Subcellular locationi

  • Cell membrane
  • Cytoplasm
  • Nucleus
  • Cell projectiongrowth cone By similarity
  • Nucleus speckle

  • Note: Colocalizes with TSHZ3 in axonal growth cone (By similarity). In normal conditions, it mainly localizes to the cytoplasm, while a small fraction is tethered to the cell membrane via its interaction with APP. Following exposure to DNA damaging agents, it is released from cell membrane and translocates to the nucleus. Nuclear translocation is under the regulation of APP. Colocalizes with TSHZ3 in the nucleus. Colocalizes with NEK6 at the nuclear speckles. Phosphorylation at Ser-610 by SGK1 promotes its localization to the nucleus (By similarity).By similarity

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • dendritic spine Source: Ensembl
  • growth cone Source: UniProtKB
  • growth cone filopodium Source: Ensembl
  • growth cone lamellipodium Source: Ensembl
  • lamellipodium Source: UniProtKB
  • main axon Source: Ensembl
  • neuronal cell body Source: Ensembl
  • nuclear speck Source: UniProtKB-SubCell
  • nucleoplasm Source: Reactome
  • nucleus Source: UniProtKB
  • perinuclear region of cytoplasm Source: Ensembl
  • plasma membrane Source: UniProtKB
  • postsynaptic membrane Source: Ensembl
  • presynaptic membrane Source: Ensembl
  • protein complex Source: Ensembl
  • synapse Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cell projection, Cytoplasm, Membrane, Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi117Y → F: No effect on phosphorylation by ABL1. 1 Publication1
Mutagenesisi234Y → F: No effect on phosphorylation by ABL1. 1 Publication1
Mutagenesisi269 – 271YYW → AAA: Impairs transcriptional activation and inhibits binding to ABL1. 1 Publication3
Mutagenesisi269Y → F: No effect on phosphorylation by ABL1. 1 Publication1
Mutagenesisi270Y → F: No effect on phosphorylation by ABL1. 1 Publication1
Mutagenesisi403Y → F: No effect on phosphorylation by ABL1. 1 Publication1
Mutagenesisi467Y → F: No effect on phosphorylation by ABL1. 1 Publication1
Mutagenesisi546Y → F: No effect on phosphorylation by ABL1. 1 Publication1
Mutagenesisi547Y → F: Abrogates phosphorylation and stimulation of transcription by ABL1, and increases the interaction with RASD1/DEXRAS1. 2 Publications1
Mutagenesisi658Y → F: No effect on phosphorylation by ABL1. 1

Organism-specific databases

DisGeNETi322.
OpenTargetsiENSG00000166313.
PharmGKBiPA24873.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000760491 – 710Amyloid beta A4 precursor protein-binding family B member 1Add BLAST710

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei517PhosphoserineBy similarity1
Modified residuei547Phosphotyrosine; by ABL12 Publications1
Modified residuei610Phosphoserine; by SGK1By similarity1

Post-translational modificationi

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

Proteomic databases

MaxQBiO00213.
PaxDbiO00213.
PeptideAtlasiO00213.
PRIDEiO00213.

PTM databases

iPTMnetiO00213.
PhosphoSitePlusiO00213.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000166313.
CleanExiHS_APBB1.
ExpressionAtlasiO00213. baseline and differential.
GenevisibleiO00213. HS.

Organism-specific databases

HPAiCAB022104.
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 beta-amyloid 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.By similarity8 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
APPP050675EBI-81694,EBI-77613
APPP05067-42EBI-81694,EBI-302641
EGFRP005334EBI-81694,EBI-297353
ERBB2P046262EBI-81694,EBI-641062
LRP1Q079543EBI-81694,EBI-1046087

GO - Molecular functioni

  • histone binding Source: UniProtKB
  • proline-rich region binding Source: UniProtKB
  • transcription factor binding Source: UniProtKB

Protein-protein interaction databases

BioGridi106819. 92 interactors.
DIPiDIP-30903N.
IntActiO00213. 13 interactors.
MINTiMINT-1493266.
STRINGi9606.ENSP00000299402.

Structurei

Secondary structure

1710
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi259 – 263Combined sources5
Beta strandi268 – 272Combined sources5
Turni273 – 275Combined sources3
Beta strandi278 – 281Combined sources4
Beta strandi368 – 379Combined sources12
Helixi382 – 385Combined sources4
Turni387 – 389Combined sources3
Helixi390 – 401Combined sources12
Beta strandi421 – 427Combined sources7
Beta strandi430 – 434Combined sources5
Turni436 – 438Combined sources3
Beta strandi441 – 446Combined sources6
Helixi447 – 449Combined sources3
Beta strandi452 – 455Combined sources4
Beta strandi458 – 460Combined sources3
Beta strandi464 – 470Combined sources7
Turni472 – 474Combined sources3
Beta strandi477 – 486Combined sources10
Helixi488 – 504Combined sources17
Beta strandi544 – 554Combined sources11
Helixi559 – 571Combined sources13
Helixi575 – 577Combined sources3
Beta strandi579 – 585Combined sources7
Beta strandi587 – 594Combined sources8
Turni595 – 597Combined sources3
Beta strandi600 – 605Combined sources6
Helixi606 – 608Combined sources3
Beta strandi609 – 614Combined sources6
Beta strandi620 – 628Combined sources9
Beta strandi631 – 641Combined sources11
Helixi644 – 665Combined sources22

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2E45NMR-A241-290[»]
2HO2X-ray1.33A253-289[»]
2IDHX-ray2.28A/B/C/D/E/F/G/H253-289[»]
2OEIX-ray1.35A253-289[»]
3D8DX-ray2.20A/B366-505[»]
3D8EX-ray2.80A/B/C/D366-505[»]
3D8FX-ray2.70A/B/C/D366-505[»]
3DXCX-ray2.10A/C534-667[»]
3DXDX-ray2.20A/C534-667[»]
3DXEX-ray2.00A/C534-667[»]
ProteinModelPortaliO00213.
SMRiO00213.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO00213.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini253 – 285WWPROSITE-ProRule annotationAdd BLAST33
Domaini370 – 509PID 1PROSITE-ProRule annotationAdd BLAST140
Domaini542 – 699PID 2PROSITE-ProRule annotationAdd BLAST158

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi158 – 171Glu-richAdd BLAST14

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.
InParanoidiO00213.
KOiK04529.
PhylomeDBiO00213.
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. 2 hits.
[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 1 (identifier: O00213-1) [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
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]FASTAAdd to basket

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

Show »
Length:708
Mass (Da):76,959
Checksum:iFC578B7688BCC1A0
GO
Isoform 3 (identifier: O00213-3) [UniParc]FASTAAdd to basket

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

Show »
Length:488
Mass (Da):53,927
Checksum:i72DB1DFEA0886C91
GO
Isoform 4 (identifier: O00213-4) [UniParc]FASTAAdd to basket
Also known as: p60Fe65

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

Note: Expressed preferentially in the brain.
Show »
Length:451
Mass (Da):49,857
Checksum:i14AE683C4BD3A6D5
GO
Isoform 5 (identifier: O00213-5) [UniParc]FASTAAdd to basket

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

Note: No experimental confirmation available.
Show »
Length:490
Mass (Da):54,212
Checksum:i1996107B7E50C0B0
GO
Isoform 6 (identifier: O00213-6) [UniParc]FASTAAdd to basket

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

Note: No experimental confirmation available.
Show »
Length:475
Mass (Da):52,656
Checksum:iC01AD5CED5941D94
GO

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti367I → T in BAH11532 (PubMed:14702039).Curated1
Sequence conflicti493T → A in BAH11532 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_014444327M → V.Corresponds to variant rs1800423dbSNPEnsembl.1
Natural variantiVAR_014445396N → S.Corresponds to variant rs1800425dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0474591 – 259Missing in isoform 4. 2 PublicationsAdd BLAST259
Alternative sequenceiVSP_0547091 – 240MSVPS…SPEDT → MTQMR in isoform 6. 1 PublicationAdd BLAST240
Alternative sequenceiVSP_0453261 – 213Missing in isoform 3 and isoform 5. 2 PublicationsAdd BLAST213
Alternative sequenceiVSP_045327214 – 240NSAAS…SPEDT → MSAMFSQDFFLAIILQDSSA in isoform 3 and isoform 5. 2 PublicationsAdd BLAST27
Alternative sequenceiVSP_011658462 – 463Missing in isoform 2 and isoform 3. 2 Publications2

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.
CCDSiCCDS31410.1. [O00213-2]
CCDS58114.1. [O00213-3]
CCDS66015.1. [O00213-4]
CCDS66016.1. [O00213-6]
CCDS66017.1. [O00213-5]
CCDS66018.1. [O00213-1]
RefSeqiNP_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]
UniGeneiHs.372840.

Genome annotation databases

EnsembliENST00000299402; 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]
GeneIDi322.
KEGGihsa:322.
UCSCiuc001mdb.4. human. [O00213-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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.
CCDSiCCDS31410.1. [O00213-2]
CCDS58114.1. [O00213-3]
CCDS66015.1. [O00213-4]
CCDS66016.1. [O00213-6]
CCDS66017.1. [O00213-5]
CCDS66018.1. [O00213-1]
RefSeqiNP_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]
UniGeneiHs.372840.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2E45NMR-A241-290[»]
2HO2X-ray1.33A253-289[»]
2IDHX-ray2.28A/B/C/D/E/F/G/H253-289[»]
2OEIX-ray1.35A253-289[»]
3D8DX-ray2.20A/B366-505[»]
3D8EX-ray2.80A/B/C/D366-505[»]
3D8FX-ray2.70A/B/C/D366-505[»]
3DXCX-ray2.10A/C534-667[»]
3DXDX-ray2.20A/C534-667[»]
3DXEX-ray2.00A/C534-667[»]
ProteinModelPortaliO00213.
SMRiO00213.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106819. 92 interactors.
DIPiDIP-30903N.
IntActiO00213. 13 interactors.
MINTiMINT-1493266.
STRINGi9606.ENSP00000299402.

PTM databases

iPTMnetiO00213.
PhosphoSitePlusiO00213.

Proteomic databases

MaxQBiO00213.
PaxDbiO00213.
PeptideAtlasiO00213.
PRIDEiO00213.

Protocols and materials databases

DNASUi322.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000299402; 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]
GeneIDi322.
KEGGihsa:322.
UCSCiuc001mdb.4. human. [O00213-1]

Organism-specific databases

CTDi322.
DisGeNETi322.
GeneCardsiAPBB1.
H-InvDBHIX0009398.
HGNCiHGNC:581. APBB1.
HPAiCAB022104.
HPA038521.
HPA038522.
MIMi602709. gene.
neXtProtiNX_O00213.
OpenTargetsiENSG00000166313.
PharmGKBiPA24873.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IEKA. Eukaryota.
ENOG410YEVS. LUCA.
GeneTreeiENSGT00390000000002.
HOGENOMiHOG000033983.
HOVERGENiHBG050524.
InParanoidiO00213.
KOiK04529.
PhylomeDBiO00213.
TreeFamiTF314331.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000166313-MONOMER.
ReactomeiR-HSA-5693565. Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks.
SignaLinkiO00213.
SIGNORiO00213.

Miscellaneous databases

ChiTaRSiAPBB1. human.
EvolutionaryTraceiO00213.
GeneWikiiAPBB1.
GenomeRNAii322.
PROiO00213.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000166313.
CleanExiHS_APBB1.
ExpressionAtlasiO00213. baseline and differential.
GenevisibleiO00213. 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. 2 hits.
[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 nameiAPBB1_HUMAN
AccessioniPrimary (citable) accession number: O00213
Secondary accession number(s): A1E379
, A6NH82, A6NL69, B7Z1J5, B7Z1J6, B7Z2Y0, D3DQT2, Q7Z324, Q96A93, V9GYK0, V9GYT4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: June 1, 1998
Last modified: November 2, 2016
This is version 158 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 11
    Human chromosome 11: 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.