Apbb1ip amyloid beta precursor protein binding family B member 1 interacting protein [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Apbb1ipprovided by MGI
Official Full Name: amyloid beta precursor protein binding family B member 1 interacting proteinprovided by MGI
Primary source: MGI:MGI:1861354
See related: Ensembl:ENSMUSG00000026786 AllianceGenome:MGI:1861354
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Prp48; 9930118P07Rik
Summary: Acts upstream of or within T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell and positive regulation of cell adhesion. Located in cytosol and plasma membrane. Part of T cell receptor complex. Is expressed in several structures, including brain; genitourinary system; hemolymphoid system; liver; and molar. Orthologous to human APBB1IP (amyloid beta precursor protein binding family B member 1 interacting protein). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in thymus adult (RPKM 9.0), spleen adult (RPKM 6.8) and 15 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 A3; 2 15.15 cM

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (22645983..22765671)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (22755971..22875653)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

These data identify the requirement of RIAM for formation of immunological synapses and in resulting T cell functions in autoimmunity.
Title: Cutting Edge: Loss of T Cell RIAM Precludes Conjugate Formation with APC and Prevents Immune-Mediated Diabetes.
we show that leukocyte integrin activation critically depends on RIAM both in vitro and in vivo
Title: Loss of the Rap1 effector RIAM results in leukocyte adhesion deficiency due to impaired β2 integrin function in mice.
These in vivo results confirm a role for RIAM in the regulation of some, but not all, leukocyte integrins and suggest that RIAM-regulated integrin activation is required for trafficking of lymphocytes
Title: Rap1 and its effector RIAM are required for lymphocyte trafficking.
Conformational activation of talin by PREL-1 triggers integrin-mediated cell adhesion.
Title: Conformational activation of talin by RIAM triggers integrin-mediated cell adhesion.
crystal structure of an active, GTP-bound GTPase domain of Rap1 in complex with the Ras association (RA)-pleckstrin homology (PH) structural module of RIAM at 1.65 A, is reported.
Title: The structure of Rap1 in complex with RIAM reveals specificity determinants and recruitment mechanism.
generated RIAM-null mice and found that they are viable, fertile, and apparently healthy
Title: Rap1-GTP-interacting adaptor molecule (RIAM) is dispensable for platelet integrin activation and function in mice.
As talin engages F-actin, force exerted on the R2R3 helical bundles disrupts RIAM binding and exposes the vinculin binding sites, which recruit vinculin to stabilize the complex.
Title: RIAM and vinculin binding to talin are mutually exclusive and regulate adhesion assembly and turnover.
Data demonstrate a novel mechanism by which alphavbeta3 integrin acts to locally suppress beta1 integrin activation and regulate VASP and RIAM to control cell adhesion and migration.
Title: Alpha v beta3 integrin spatially regulates VASP and RIAM to control adhesion dynamics and migration.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (4) 1 citation
Endonuclease-mediated (4)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH143782 (e-PCR)
- UniSTS:233028

D1S3696 (e-PCR)
- UniSTS:474274

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of cell adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of T cell receptor complex	IDA Inferred from Direct Assay more info	PubMed
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: amyloid beta A4 precursor protein-binding family B member 1-interacting protein

Names: APBB1-interacting protein 1; PREL-1; amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein; proline-rich EVH1 ligand 1; proline-rich protein 48

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_019456.2 → NP_062329.2 amyloid beta A4 precursor protein-binding family B member 1-interacting protein

See identical proteins and their annotated locations for NP_062329.2

Status: VALIDATED

Source sequence(s)

AK021331, AK041552, AK089987, BB638237, CT030013

Consensus CDS

CCDS38056.1

UniProtKB/Swiss-Prot

O35329, Q8BRU0, Q8R5A3, Q99KV8

UniProtKB/TrEMBL

B1AYC9

Related

ENSMUSP00000014290.9, ENSMUST00000014290.15

Conserved Domains (2) summary

cd01259
Location:310 → 431

PH_APBB1IP; Amyloid beta (A4) Precursor protein-Binding, family B, member 1 Interacting Protein pleckstrin homology (PH) domain

cd16137
Location:186 → 267

RA_MRL_RIAM; Ras-associating (RA) domain found in Rap1-GTP-interacting adapter molecule (RIAM)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

22645983..22765671

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006498186.4 → XP_006498249.1 amyloid beta A4 precursor protein-binding family B member 1-interacting protein isoform X1

See identical proteins and their annotated locations for XP_006498249.1

UniProtKB/Swiss-Prot

O35329, Q8BRU0, Q8R5A3, Q99KV8

UniProtKB/TrEMBL

B1AYC9

Conserved Domains (2) summary

cd01259
Location:310 → 431

PH_APBB1IP; Amyloid beta (A4) Precursor protein-Binding, family B, member 1 Interacting Protein pleckstrin homology (PH) domain

cd16137
Location:186 → 267

RA_MRL_RIAM; Ras-associating (RA) domain found in Rap1-GTP-interacting adapter molecule (RIAM)
XM_006498187.2 → XP_006498250.1 amyloid beta A4 precursor protein-binding family B member 1-interacting protein isoform X2

Conserved Domains (2) summary

cd01259
Location:243 → 364

PH_APBB1IP; Amyloid beta (A4) Precursor protein-Binding, family B, member 1 Interacting Protein pleckstrin homology (PH) domain

cd16137
Location:119 → 200

RA_MRL_RIAM; Ras-associating (RA) domain found in Rap1-GTP-interacting adapter molecule (RIAM)