Home
GeneCards Guide
Suite
- MalaCards
- GeneALaCart
- GeneDecks
- GeneIP
- GeneLoc
Terms and Conditions
- Terms of Use
- 3rd Party Notice
About Us
User Feedback
Mirror sites

Set Analyses:

Generates a file of GeneCards annotations for your list of genes

Advanced Search

Search By

Section (entire)

for

All GeneCards Within gene subset (to enable gene prioritization):
or upload a file of gene symbols

Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

APBB1 Gene

protein-coding GIFtS: 63
GCID: GC11M006414

amyloid beta (A4) precursor protein-binding, family B, member...

(Previous symbol: RIR)

Explore 15 diseases affiliated with
APBB1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Amyloid Beta (A4) Precursor Protein-Binding, Family B, Member 1 (Fe65)¹ ²		Adaptor Protein FE65a2²
RIR¹ ² ³		Amyloid Beta A4 Precursor Protein-Binding Family B Member 1²
FE65² ³ ⁵		Stat-Like Protein²
Fe65¹		Protein Fe65³
MGC:9072²

External Ids:	HGNC: 581¹	Entrez Gene: 322²	Ensembl: ENSG00000166313⁷	OMIM: 602709⁵	UniProtKB: O00213³

Export aliases for APBB1 gene to outside databases

Previous GC identifers: GC11M007159 GC11M006876 GC11M006375 GC11M006380 GC11M006355 GC11M006373 GC11M006075

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for APBB1:

The protein encoded by this gene is a member of the Fe65 protein family. It is an adaptor protein localized in the

nucleus. It interacts with the Alzheimer's disease amyloid precursor protein (APP), transcription factor CP2/LSF/LBP1

and the low-density lipoprotein receptor-related protein. APP functions as a cytosolic anchoring site that can prevent

the gene product's nuclear translocation. This encoded protein could play an important role in the pathogenesis of

Alzheimer's disease. It is thought to regulate transcription. Also it is observed to block cell cycle progression by

downregulating thymidylate synthase expression. Multiple alternatively spliced transcript variants encoding different

isoforms have been described for this gene. (provided by RefSeq, Mar 2012)

UniProtKB/Swiss-Prot: APBB1_HUMAN, O00213

Function: 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 trancription 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)

Gene Wiki entry for APBB1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000011.9 NC_018922.1 NT_009237.18

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the APBB1 gene promoter:
AP-1 ATF-2 c-Jun
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): APBB1 promoter sequence

Search SABiosciences Chromatin IP Primers for APBB1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat APBB1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p15 Ensembl cytogenetic band: 11p15.4 HGNC cytogenetic band: 11p15

APBB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
APBB1 gene location

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11M006414: view genomic region (about GC identifiers)

Start:	6,416,354 bp from pter	End:	6,440,644 bp from pter
Size:	24,291 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: APBB1_HUMAN, O00213 (See protein sequence)

Recommended Name: Amyloid beta A4 precursor protein-binding family B member 1

Size: 710 amino acids; 77244 Da

Subunit: 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 trancription 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

Subcellular location: Cell membrane. Cytoplasm. Nucleus. Cell projection, growth 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. Co-localizes with NEK6 at the nuclear speckles.

Phosphorylation at Ser-610 by SGK1 promotes its localization to the nucleus (By similarity)

6/10 PDB 3D structures from and Proteopedia for APBB1 (see all 10):

2E45 (3D)

2HO2 (3D)

2IDH (3D)

2OEI (3D)

3D8D (3D)

3D8E (3D)

Secondary accessions: A6NH82 A6NL69 B7Z2Y0 D3DQT2 Q96A93

Alternative splicing: 3 isoforms: O00213-1 O00213-2 O00213-3

Explore the universe of human proteins at neXtProt for APBB1: NX_O00213

Post-translational modifications:

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/DEXRAS1¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O00213

APBB1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (10 alternative transcripts):

NP_001155.1 NP_001244248.1 NP_001244249.1 NP_001244250.1 NP_001244251.1 NP_001244252.1 NP_001244253.1 NP_001244254.1

NP_001244255.1 NP_663722.1

ENSEMBL proteins:

ENSP00000299402 ENSP00000374557 ENSP00000311912 ENSP00000432169 ENSP00000433338

ENSP00000437114 ENSP00000374556

Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Proteins (see all 2): APBB1 OriGene Protein Over-expression Lysate (see all 2): APBB1 OriGene Custom Protein Services for APBB1
	GenScript Custom Purified and Recombinant Proteins Services for APBB1
	Novus Biologicals APBB1 Proteins Novus Biologicals APBB1 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for APBB1

Gene Ontology (GO): 5/12 cellular component terms (GO ID links to tree view) (see all 12): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	ISS	--
GO:0005737	cytoplasm	IDA	18468999
GO:0005886	plasma membrane	IDA	18468999
GO:0016607	nuclear speck	IEA	--
GO:0030027	lamellipodium	IDA	12843239

APBB1 for ontologies About GeneDecksing

APBB1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of APBB1
	Browse R&D Systems for Antibodies
	Cell Signaling Technology (CST) Antibodies for APBB1 (Fe65)
	OriGene Antibodies (see all 3): APBB1 OriGene Custom Antibody Services for APBB1
	GenScript Custom Superior Antibodies Services for APBB1
	Novus Biologicals APBB1 Antibodies
	Abcam antibodies for APBB1
	Uscn Antibodies for APBB1
	ThermoFisher Antibody for APBB1

Assay Products for APBB1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for APBB1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for APBB1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

APBB1 for domains About GeneDecksing

3 InterPro domains/families:

IPR006020 PTyr_interaction_dom

IPR001202 WW_Rsp5_WWP

IPR011993 PH_like_dom

Graphical View of Domain Structure for InterPro Entry O00213

ProtoNet protein and cluster: O00213

2 Blocks protein families:

IPB002349 WW domain signature

IPB006020 Phosphotyrosine interaction domain

UniProtKB/Swiss-Prot: APBB1_HUMAN, O00213

Similarity: Contains 2 PID domains

Similarity: Contains 1 WW domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary: