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

    Gene ID: 54518, updated on 5-Mar-2024

    Summary

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    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, Apr 2022]
    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

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    Location:
    10p12.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (26438341..26567803)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (26462982..26592541)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (26727270..26856732)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene NANOG hESC enhancer GRCh37_chr10:26263803-26264349 Neighboring gene myosin IIIA Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:26289384-26290583 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:26290901-26292100 Neighboring gene NANOG hESC enhancer GRCh37_chr10:26488725-26489248 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr10:26502717-26503284 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:26503285-26503850 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:26503851-26504417 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:26507027-26507655 Neighboring gene glutamate decarboxylase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3164 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3165 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3167 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:26726587-26727116 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2235 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3168 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:26778915-26779063 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2236 Neighboring gene RNA, 5S ribosomal pseudogene 307 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3169 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3170 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:26868178-26868678 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:26871445-26871944 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:26877727-26878226 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:26882505-26883048 Neighboring gene long intergenic non-protein coding RNA 3028 Neighboring gene family with sequence similarity 238 member A

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Structural, biochemical, and functional properties of the Rap1-Interacting Adaptor Molecule (RIAM). Sari-Ak D, et al. Biomed J, 2022 Apr. PMID 34601137, Free PMC Article
    2. Phosphorylation of RIAM by src promotes integrin activation by unmasking the PH domain of RIAM. Cho EA, et al. Structure, 2021 Apr 1. PMID 33275877, Free PMC Article
    3. Heterogeneity of childhood acute leukemia with mature B-cell immunophenotype. Demina I, et al. J Cancer Res Clin Oncol, 2019 Nov. PMID 31463716
    4. The adaptor molecule RIAM integrates signaling events critical for integrin-mediated control of immune function and cancer progression. Patsoukis N, et al. Sci Signal, 2017 Aug 22. PMID 28831022
    5. RIAM (Rap1-interacting adaptor molecule) regulates complement-dependent phagocytosis. Medraño-Fernandez I, et al. Cell Mol Life Sci, 2013 Jul. PMID 23420480, Free PMC Article

    See all (46) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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).
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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
    Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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)

    1. 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_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      26438341..26567803
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      26462982..26592541
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366128.1 → XP_054222103.1  amyloid beta A4 precursor protein-binding family B member 1-interacting protein isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z5R6.1 GenPept UniProtKB/Swiss-Prot:Q7Z5R6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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