APBB1IP amyloid beta precursor protein binding family B member 1 interacting protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: APBB1IPprovided by HGNC
Official Full Name: amyloid beta precursor protein binding family B member 1 interacting proteinprovided by HGNC
Primary source: HGNC:HGNC:17379
See related: Ensembl:ENSG00000077420 MIM:609036; AllianceGenome:HGNC:17379
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RIAM; INAG1; PREL1; RARP1
Summary: Predicted to be involved in signal transduction. Predicted to act 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. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Broad expression in appendix (RPKM 24.2), spleen (RPKM 22.5) and 16 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10p12.1

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (26438341..26567803)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (26462982..26592541)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (26727270..26856732)

Chromosome 10 - NC_000010.11 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: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Expression of the phagocytic receptors alphaMbeta2 and alphaXbeta2 is controlled by RIAM, VASP and Vinculin in neutrophil-differentiated HL-60 cells.
Title: Expression of the phagocytic receptors α(M)β(2) and α(X)β(2) is controlled by RIAM, VASP and Vinculin in neutrophil-differentiated HL-60 cells.
Structural, biochemical, and functional properties of the Rap1-Interacting Adaptor Molecule (RIAM).
Title: Structural, biochemical, and functional properties of the Rap1-Interacting Adaptor Molecule (RIAM).
Phosphorylation of RIAM by src promotes integrin activation by unmasking the PH domain of RIAM.
Title: Phosphorylation of RIAM by src promotes integrin activation by unmasking the PH domain of RIAM.
RIAM-VASP Module Relays Integrin Complement Receptors in Outside-In Signaling Driving Particle Engulfment.
Title: RIAM-VASP Module Relays Integrin Complement Receptors in Outside-In Signaling Driving Particle Engulfment.
Talin dissociates from RIAM and associates to vinculin sequentially in response to the actomyosin force.
Title: Talin dissociates from RIAM and associates to vinculin sequentially in response to the actomyosin force.
We solved the crystal structure of IN-RA-PH to a resolution of 2.4-A. The structure reveals that the IN segment associates with the RA segment and thereby suppresses RIAM:RAP1 association. This autoinhibitory configuration of RIAM can be released by phosphorylation at Tyr45 in the IN segment.
Title: Molecular basis for autoinhibition of RIAM regulated by FAK in integrin activation.
Authors provide an overview of the structure and interactions of RIAM and discuss the implications of RIAM functions in innate and adaptive immunity and cancer. [Review]
Title: The adaptor molecule RIAM integrates signaling events critical for integrin-mediated control of immune function and cancer progression.
The Rap1-RIAM-talin axis of integrin activation and blood cell function
Title: The Rap1-RIAM-talin axis of integrin activation and blood cell function.
Disruption of the RIAM/lamellipodin-integrin-talin complex markedly impairs cell migration.
Title: A RIAM/lamellipodin-talin-integrin complex forms the tip of sticky fingers that guide cell migration.
RIAM is a critical component of the phagocytosis machinery downstream of Rap1 and mediates its function by recruiting talin to the phagocytic complement receptors.
Title: RIAM (Rap1-interacting adaptor molecule) regulates complement-dependent phagocytosis.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study of inflammatory biomarker changes in response to fenofibrate treatment in the Genetics of Lipid Lowering Drug and Diet Network. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10S1417 (e-PCR)
- UniSTS:43834

D10S111 (e-PCR), detects polymorphism
- UniSTS:41312

D10S1197 (e-PCR)
- UniSTS:10087

SHGC-106955 (e-PCR)
- UniSTS:182174

Gene Ontology Provided by GOA

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

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

Component	Evidence Code	Pubs
part_of T cell receptor complex	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
located_in cytosol	TAS Traceable Author Statement more info
located_in focal adhesion	IEA Inferred from Electronic Annotation more info
located_in lamellipodium	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

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; MLLT10/APBB1IP reciprocal fusion; MLLT10/APBB1IP reciprocal fusion protein; PREL-1; RARP-1; Rap1-GTP-interacting adaptor molecule; Rap1-interacting adaptor molecule; proline rich EVH1 ligand 1; proline-rich protein 73; rap1-GTP-interacting adapter molecule; retinoic acid-responsive proline-rich protein 1

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_019043.4 → NP_061916.3 amyloid beta A4 precursor protein-binding family B member 1-interacting protein

See identical proteins and their annotated locations for NP_061916.3

Status: VALIDATED

Source sequence(s)

BC054516, BM150270, BM556115

Consensus CDS

CCDS31167.1

UniProtKB/Swiss-Prot

Q7Z5R6, Q8IWS8, Q8IYL7, Q8IZZ7

UniProtKB/TrEMBL

B4E100

Related

ENSP00000365411.4, ENST00000376236.9

Conserved Domains (3) summary

cd01787
Location:183 → 261

GRB7_RA; RA (RAS-associated like) domain of Grb7

cd01259
Location:307 → 428

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

pfam00169
Location:311 → 419

PH; PH domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

26438341..26567803

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011519514.3 → XP_011517816.1 amyloid beta A4 precursor protein-binding family B member 1-interacting protein isoform X1

Conserved Domains (3) summary

cd01787
Location:183 → 261

GRB7_RA; RA (RAS-associated like) domain of Grb7

cd01259
Location:300 → 380

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

pfam00169
Location:295 → 371

PH; PH domain