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Aliases for APBB1IP Gene

Aliases for APBB1IP Gene

  • Amyloid Beta Precursor Protein Binding Family B Member 1 Interacting Protein 2 3 5
  • Retinoic Acid-Responsive Proline-Rich Protein 1 3 4
  • Rap1-GTP-Interacting Adaptor Molecule 2 3
  • Rap1-GTP-Interacting Adapter Molecule 3 4
  • APBB1-Interacting Protein 1 3 4
  • Proline-Rich Protein 73 3 4
  • PREL-1 3 4
  • RARP-1 3 4
  • PREL1 3 4
  • RARP1 3 4
  • RIAM 3 4
  • Amyloid Beta (A4) Precursor Protein-Binding, Family B, Member 1 Interacting Protein 2
  • Amyloid Beta A4 Precursor Protein-Binding Family B Member 1-Interacting Protein 3
  • Rap1-Interacting Adaptor Molecule 3
  • Proline Rich EVH1 Ligand 1 3
  • Proline-Rich EVH1 Ligand 1 4
  • INAG1 3

External Ids for APBB1IP Gene

Previous GeneCards Identifiers for APBB1IP Gene

  • GC10P026877
  • GC10P026731
  • GC10P026767

Summaries for APBB1IP Gene

GeneCards Summary for APBB1IP Gene

APBB1IP (Amyloid Beta Precursor Protein Binding Family B Member 1 Interacting Protein) is a Protein Coding gene. Among its related pathways are RET signaling and Innate Immune System. An important paralog of this gene is RAPH1.

UniProtKB/Swiss-Prot for APBB1IP Gene

  • Appears to function in the signal transduction from Ras activation to actin cytoskeletal remodeling. Suppresses insulin-induced promoter activities through AP1 and SRE. Mediates Rap1-induced adhesion.

Gene Wiki entry for APBB1IP Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for APBB1IP Gene

Genomics for APBB1IP Gene

Regulatory Elements for APBB1IP Gene

Enhancers for APBB1IP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10G026445 1.9 FANTOM5 Ensembl ENCODE dbSUPER 27.1 +10.5 10476 7.0 HDGF PKNOX1 FOXA2 MLX ARID4B DMAP1 ZNF48 YY1 TCF12 CBX5 APBB1IP ABI1 GC10M026472
GH10G026430 1.7 FANTOM5 Ensembl ENCODE dbSUPER 28.9 -7.3 -7291 1.6 PKNOX1 TBL1XR1 CBX5 RELB IKZF2 JUNB USF2 GATAD2B TBX21 RAD51 APBB1IP ABI1 PDSS1 GC10M026396 GC10M026395
GH10G026466 1.4 Ensembl ENCODE dbSUPER 26.8 +30.3 30334 3.4 HDGF ZNF2 ZBTB40 CHAMP1 ZNF366 ETV6 FOS RELB CREM IKZF2 APBB1IP GC10M026472
GH10G026435 1.2 ENCODE dbSUPER 27.7 +2.2 2231 8.9 WRNIP1 ZNF2 RAD21 YY1 ZNF366 EGR1 ZNF143 FOS RELB IKZF2 APBB1IP GC10M026472
GH10G026479 1.8 FANTOM5 Ensembl ENCODE dbSUPER 18.2 +46.5 46460 10.9 TBP HDGF PKNOX1 FOXA2 RAD21 RARA KAT2B RFX5 ZNF155 GTF3C2 APBB1IP ABI1 PDSS1 GC10M026472 RNA5SP307
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around APBB1IP on UCSC Golden Path with GeneCards custom track

Promoters for APBB1IP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000025785 897 2601 RAD21 YY1 EGR1 ZNF143 RELB IKZF2 CREM CBFB CEBPB JUNB

Transcription factor binding sites by QIAGEN in the APBB1IP gene promoter:

Genomic Location for APBB1IP Gene

Chromosome:
10
Start:
26,438,203 bp from pter
End:
26,567,879 bp from pter
Size:
129,677 bases
Orientation:
Plus strand

Genomic View for APBB1IP Gene

Genes around APBB1IP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
APBB1IP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for APBB1IP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for APBB1IP Gene

Proteins for APBB1IP Gene

  • Protein details for APBB1IP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z5R6-AB1IP_HUMAN
    Recommended name:
    Amyloid beta A4 precursor protein-binding family B member 1-interacting protein
    Protein Accession:
    Q7Z5R6
    Secondary Accessions:
    • Q8IWS8
    • Q8IYL7
    • Q8IZZ7

    Protein attributes for APBB1IP Gene

    Size:
    666 amino acids
    Molecular mass:
    73183 Da
    Quaternary structure:
    • Interacts, through the N-terminal Pro-rich region, with the WW domain of APBB1. Interacts with RAP1A, PFN1, TLN1, VASP, VCL and ENAH.

    Three dimensional structures from OCA and Proteopedia for APBB1IP Gene

    Alternative splice isoforms for APBB1IP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for APBB1IP Gene

Post-translational modifications for APBB1IP Gene

  • Ubiquitination at posLast=190190, posLast=268268, posLast=397397, and Lys421
  • Modification sites at PhosphoSitePlus

Other Protein References for APBB1IP Gene

Antibody Products

  • R&D Systems Antibodies for APBB1IP (RIAM/APBB1IP)
  • Abcam antibodies for APBB1IP
  • Cloud-Clone Corp. Antibodies for APBB1IP

No data available for DME Specific Peptides for APBB1IP Gene

Domains & Families for APBB1IP Gene

Gene Families for APBB1IP Gene

Protein Domains for APBB1IP Gene

Graphical View of Domain Structure for InterPro Entry

Q7Z5R6

UniProtKB/Swiss-Prot:

AB1IP_HUMAN :
  • The two Pro-rich regions are required for the suppression of AP1 transcription activity.
  • Belongs to the MRL family.
Domain:
  • The two Pro-rich regions are required for the suppression of AP1 transcription activity.
Family:
  • Belongs to the MRL family.
genes like me logo Genes that share domains with APBB1IP: view

Function for APBB1IP Gene

Molecular function for APBB1IP Gene

UniProtKB/Swiss-Prot Function:
Appears to function in the signal transduction from Ras activation to actin cytoskeletal remodeling. Suppresses insulin-induced promoter activities through AP1 and SRE. Mediates Rap1-induced adhesion.
UniProtKB/Swiss-Prot Induction:
By all-trans-retinoic acid (ATRA).

Gene Ontology (GO) - Molecular Function for APBB1IP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22084112
genes like me logo Genes that share ontologies with APBB1IP: view
genes like me logo Genes that share phenotypes with APBB1IP: view

Animal Models for APBB1IP Gene

MGI Knock Outs for APBB1IP:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for APBB1IP Gene

Localization for APBB1IP Gene

Subcellular locations from UniProtKB/Swiss-Prot for APBB1IP Gene

Cell membrane; Peripheral membrane protein. Cell projection, lamellipodium. Cell junction, focal adhesion. Cytoplasm, cytoskeleton. Note=Colocalizes with ENA/VASP proteins at lamellipodia tips and focal adhesions, and F-actin at the leading edge. At the membrane surface, associates, via the PH domain, preferentially with the inositol phosphates, PtdIns(5)P and PtdIns(3)P. This binding appears to be necessary for the efficient interaction of the RA domain to Ras-GTPases (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for APBB1IP gene
Compartment Confidence
plasma membrane 5
cytosol 5
cytoskeleton 4
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for APBB1IP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IDA --
GO:0005925 focal adhesion IEA --
genes like me logo Genes that share ontologies with APBB1IP: view

Pathways & Interactions for APBB1IP Gene

SuperPathways for APBB1IP Gene

SuperPathway Contained pathways
1 RET signaling
2 Signaling by moderate kinase activity BRAF mutants
3 Integrin alphaIIb beta3 signaling
4 Developmental Biology
5 Cytokine Signaling in Immune system
genes like me logo Genes that share pathways with APBB1IP: view

Pathways by source for APBB1IP Gene

2 KEGG pathways for APBB1IP Gene

Gene Ontology (GO) - Biological Process for APBB1IP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002291 T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell IEA --
GO:0007165 signal transduction IEA --
GO:0045785 positive regulation of cell adhesion IEA --
genes like me logo Genes that share ontologies with APBB1IP: view

No data available for SIGNOR curated interactions for APBB1IP Gene

Drugs & Compounds for APBB1IP Gene

No Compound Related Data Available

Transcripts for APBB1IP Gene

Unigene Clusters for APBB1IP Gene

Amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for APBB1IP Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15
SP1: -
SP2: -
SP3:
SP4: - -

Relevant External Links for APBB1IP Gene

GeneLoc Exon Structure for
APBB1IP
ECgene alternative splicing isoforms for
APBB1IP

Expression for APBB1IP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for APBB1IP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for APBB1IP Gene

This gene is overexpressed in Whole Blood (x26.3).

Protein differential expression in normal tissues from HIPED for APBB1IP Gene

This gene is overexpressed in Lymph node (23.1), Peripheral blood mononuclear cells (13.9), and NK cells (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for APBB1IP Gene



Protein tissue co-expression partners for APBB1IP Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of APBB1IP Gene:

APBB1IP

SOURCE GeneReport for Unigene cluster for APBB1IP Gene:

Hs.310421

mRNA Expression by UniProt/SwissProt for APBB1IP Gene:

Q7Z5R6-AB1IP_HUMAN
Tissue specificity: Widely expressed with high expression in thymus, spleen, lymph node, bone marrow and peripheral leukocytes.

Evidence on tissue expression from TISSUES for APBB1IP Gene

  • Blood(4.4)
  • Liver(4.3)
  • Bone marrow(2.5)
  • Intestine(2.5)
  • Lymph node(2.5)
  • Spleen(2.5)
genes like me logo Genes that share expression patterns with APBB1IP: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for APBB1IP Gene

Orthologs for APBB1IP Gene

This gene was present in the common ancestor of animals.

Orthologs for APBB1IP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia APBB1IP 34 35
  • 99.15 (n)
dog
(Canis familiaris)
Mammalia APBB1IP 34 35
  • 85.74 (n)
cow
(Bos Taurus)
Mammalia APBB1IP 34 35
  • 84.22 (n)
rat
(Rattus norvegicus)
Mammalia Apbb1ip 34
  • 82.59 (n)
mouse
(Mus musculus)
Mammalia Apbb1ip 34 16 35
  • 79.39 (n)
oppossum
(Monodelphis domestica)
Mammalia APBB1IP 35
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia APBB1IP 35
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves APBB1IP 34 35
  • 72.65 (n)
lizard
(Anolis carolinensis)
Reptilia APBB1IP 35
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia apbb1ip 34
  • 66.67 (n)
zebrafish
(Danio rerio)
Actinopterygii apbb1ip 34 35
  • 62.63 (n)
zgc63968 34
fruit fly
(Drosophila melanogaster)
Insecta pico 35
  • 17 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mig-10 35
  • 25 (a)
OneToMany
Species where no ortholog for APBB1IP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for APBB1IP Gene

ENSEMBL:
Gene Tree for APBB1IP (if available)
TreeFam:
Gene Tree for APBB1IP (if available)

Paralogs for APBB1IP Gene

Paralogs for APBB1IP Gene

(1) SIMAP similar genes for APBB1IP Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for APBB1IP Gene

genes like me logo Genes that share paralogs with APBB1IP: view

Variants for APBB1IP Gene

Sequence variations from dbSNP and Humsavar for APBB1IP Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs1000018341 -- 26,516,568(+) TAAAG(C/T)GGAAA intron-variant
rs1000031655 -- 26,475,038(+) TTTGA(G/T)ATGAG intron-variant
rs1000039312 -- 26,504,692(+) ACTCC(A/G)GAGCG intron-variant
rs1000048075 -- 26,450,884(+) AGAGA(C/G)AAGGT intron-variant
rs1000060830 -- 26,556,702(+) AGTCT(A/G)CTCTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for APBB1IP Gene

Variant ID Type Subtype PubMed ID
dgv381n106 CNV deletion 24896259
esv2129666 CNV deletion 18987734
esv2477507 CNV deletion 19546169
esv2669291 CNV deletion 23128226
esv2734362 CNV deletion 23290073
esv2734373 CNV deletion 23290073
esv2734384 CNV deletion 23290073
esv3305653 CNV mobile element insertion 20981092
esv3308386 CNV mobile element insertion 20981092
esv3327751 CNV insertion 20981092
esv3397237 CNV insertion 20981092
esv3430362 CNV insertion 20981092
esv3546049 CNV deletion 23714750
esv3622690 CNV loss 21293372
esv3891778 CNV gain 25118596
esv4688 CNV loss 18987735
esv9007 CNV loss 19470904
nsv1043832 CNV gain 25217958
nsv1069033 CNV deletion 25765185
nsv1151992 CNV deletion 26484159
nsv24111 CNV deletion 16902084
nsv476554 CNV novel sequence insertion 20440878
nsv520311 CNV gain 19592680
nsv523178 CNV loss 19592680
nsv550229 CNV loss 21841781
nsv951257 CNV duplication 24416366
nsv956893 CNV deletion 24416366

Variation tolerance for APBB1IP Gene

Residual Variation Intolerance Score: 20.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.73; 57.67% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for APBB1IP Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
APBB1IP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for APBB1IP Gene

Disorders for APBB1IP Gene

Relevant External Links for APBB1IP

Genetic Association Database (GAD)
APBB1IP
Human Genome Epidemiology (HuGE) Navigator
APBB1IP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
APBB1IP

No disorders were found for APBB1IP Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for APBB1IP Gene

Publications for APBB1IP Gene

  1. RIAM, an Ena/VASP and profilin ligand, interacts with Rap1-GTP and mediates Rap1-induced adhesion. (PMID: 15469846) Lafuente E.M. … Boussiotis V.A. (Dev. Cell 2004) 3 4 22 64
  2. The retinoic acid-responsive proline-rich protein is identified in promyeloleukemic HL-60 cells. (PMID: 14530287) Inagaki T. … Hashizume K. (J. Biol. Chem. 2003) 3 4 22 64
  3. A genome-wide association study of inflammatory biomarker changes in response to fenofibrate treatment in the Genetics of Lipid Lowering Drug and Diet Network. (PMID: 22228203) Aslibekyan S. … Arnett D.K. (Pharmacogenet. Genomics 2012) 3 46 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  5. Association studies of 23 positional/functional candidate genes on chromosome 10 in late-onset Alzheimer's disease. (PMID: 17373700) Morgan A.R. … Williams J. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2007) 3 46 64

Products for APBB1IP Gene

Sources for APBB1IP Gene

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