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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-Aug-2022

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, Apr 2022]
Expression
Broad expression in appendix (RPKM 24.2), spleen (RPKM 22.5) and 16 other tissues See more
Orthologs
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Genomic context

See APBB1IP in Genome Data Viewer
Location:
10p12.1
Exon count:
15
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (26438341..26567803)
110 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 myosin IIIA Neighboring gene glutamate decarboxylase 2 Neighboring gene RNA, 5S ribosomal pseudogene 307 Neighboring gene long intergenic non-protein coding RNA 3028 Neighboring gene family with sequence similarity 238 member A

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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
PubMed 
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
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

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_019043.4NP_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, Q8IZZ7
    Related
    ENSP00000365411.4, ENST00000376236.9
    Conserved Domains (3) summary
    cd01787
    Location:183261
    GRB7_RA; RA (RAS-associated like) domain of Grb7
    cd01259
    Location:307428
    PH_APBB1IP; Amyloid beta (A4) Precursor protein-Binding, family B, member 1 Interacting Protein pleckstrin homology (PH) domain
    pfam00169
    Location:311419
    PH; PH domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_011519514.3XP_011517816.1  amyloid beta A4 precursor protein-binding family B member 1-interacting protein isoform X1

    Conserved Domains (3) summary
    cd01787
    Location:183261
    GRB7_RA; RA (RAS-associated like) domain of Grb7
    cd01259
    Location:300380
    PH_APBB1IP; Amyloid beta (A4) Precursor protein-Binding, family B, member 1 Interacting Protein pleckstrin homology (PH) domain
    pfam00169
    Location:295371
    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)