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
External Ids for APBB1IP Gene
- HGNC: 17379
- Entrez Gene: 54518
- Ensembl: ENSG00000077420
- OMIM: 609036
- UniProtKB: Q7Z5R6
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 Oncogenic MAPK signaling. 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.
Additional gene information for APBB1IP Gene
- Monarch Initiative
- Search for APBB1IP at DataMed
- Search for APBB1IP at HumanCyc
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
GeneHancer (GH) Regulatory Elements for APBB1IP Gene
Promoters and enhancers for APBB1IP Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH10I026435 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE dbSUPER | 577.7 | +2.2 | 2231 | 8.9 | RAD21 YY1 ZNF143 BCLAF1 IKZF2 RUNX3 RXRA CBFB CEBPB USF2 | APBB1IP GC10M026472 | |
| GH10I026445 | Enhancer | 1.5 | FANTOM5 Ensembl ENCODE dbSUPER | 27.1 | +10.5 | 10475 | 7 | HDGF PKNOX1 RB1 BMI1 BATF IRF4 ZNF207 ATF7 ETV6 BCLAF1 | APBB1IP ABI1 GC10M026472 | |
| GH10I026430 | Enhancer | 1.4 | FANTOM5 Ensembl ENCODE dbSUPER | 29 | -7.3 | -7290 | 1.6 | PKNOX1 BACH1 MAX EBF1 BATF KLF5 IRF4 RELA POLR2A ATF7 | APBB1IP ABI1 PDSS1 GC10M026395 GC10M026396 | |
| GH10I026479 | Enhancer | 1.6 | FANTOM5 Ensembl ENCODE dbSUPER | 18.2 | +46.5 | 46459 | 10.9 | HDGF FOXA2 SMAD1 IRF4 RAD21 RARA RFX5 ZNF155 GTF3C2 SCRT2 | APBB1IP YME1L1 ABI1 PDSS1 GC10M026472 RNA5SP307 | |
| GH10I026466 | Enhancer | 1 | Ensembl ENCODE dbSUPER | 26.8 | +30.3 | 30334 | 3.4 | TEAD1 JUN NR2F1 ELF4 ZBTB40 ETS1 SP1 JUND ZNF24 RUNX3 | APBB1IP GC10M026472 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around APBB1IP on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the APBB1IP gene promoter:
Regulatory Element Products
Genomic Locations for APBB1IP Gene
Genomic Locations for APBB1IP Gene
- chr10:26,438,203-26,567,879
- (GRCh38/hg38)
- Size:
- 129,677 bases
- Orientation:
- Plus strand
- chr10:26,727,132-26,856,732
- (GRCh37/hg19)
Genomic View for APBB1IP Gene
Genes around APBB1IP on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 10p12.1 by Ensembl
- 10p12.1 by Entrez Gene
- 10p12.1 by HGNC
APBB1IP Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for APBB1IP Gene
Post-translational modifications for APBB1IP Gene
Other Protein References for APBB1IP Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for APBB1IP (RIAM/APBB1IP)
- Novus Biologicals Antibodies for APBB1IP
-
Abcam antibodies for APBB1IP
-
Cloud-Clone Corp. Antibodies for APBB1IP
- Invitrogen Antibodies for APBB1IP
- Search GeneTex for Antibodies for APBB1IP
Protein Products
-
OriGene Purified Proteins for APBB1IP
- Search Origene for MassSpec and Protein Over-expression Lysates for APBB1IP
- Origene Custom Protein Services for APBB1IP
-
Cloud-Clone Corp. Proteins for APBB1IP
- antibodies-online: Search results for 6 available APBB1IP Proteins ranked by validation data
- Compare Top APBB1IP Proteins
-
Quality Products:
- Search GeneTex for Proteins for APBB1IP
-
Abcam proteins for APBB1IP
Assay Products
No data available for DME Specific Peptides for APBB1IP Gene
Domains & Families for APBB1IP Gene
Gene Families for APBB1IP Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for APBB1IP Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for APBB1IP Gene
Graphical View of Domain Structure for InterPro Entry
Q7Z5R6UniProtKB/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.
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).
Phenotypes From GWAS Catalog for APBB1IP Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 22084112 |
Phenotypes for APBB1IP Gene
- MGI mutant phenotypes for APBB1IP:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for APBB1IP:
-
- Increased viability
- Increased vaccinia virus (VACV) infection
- Mildly decreased CFP-tsO45G cell surface transport
- Lamellipodia cells
- Strongly decreased CFP-tsO45G cell surface transport
- Decreased influenza A/WSN/33 replication
- Increased epidermal growth factor receptor (EGFR) surface abundance
- Decreased influenza A H1N1 (A/Hamburg/04/2009) virus numbers
Animal Models for APBB1IP Gene
- MGI Knock Outs for APBB1IP:
-
- Apbb1ip tm1(KOMP)Vlcg
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for APBB1IP
-
-
ViGene Biosciences lentiviral particle packaged cDNA for APBB1IP gene
-
ViGene Biosciences ready-to-package AAV shRNAs for APBB1IP gene
- Search ViGene Biosciences for APBB1IP
CRISPR Products
-
OriGene CRISPR knockouts for APBB1IP
- genomics-online: gRNA clones - Search results for available APBB1IP gene related products
- Applied Biological Materials CRISPR for APBB1IP
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for APBB1IP
- GenScript: Design CRISPR guide RNA sequences for APBB1IP
miRNA Products
- Search ViGene Biosciences for APBB1IP
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for APBB1IP
- Browse OriGene Inhibitory RNA Products For APBB1IP
- genomics-online: shRNA clones - Search results for available APBB1IP gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for APBB1IP gene
Clone Products
- Sino Biological Human cDNA Clone for APBB1IP
- VectorBuilder custom plasmid, inducible vectors for APBB1IP
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for APBB1IP
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for APBB1IP
- genomics-online: cdna clones - Search results for available APBB1IP gene related products
- orf clones - Search results for available APBB1IP gene related products
- Applied Biological Materials Clones for APBB1IP
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for APBB1IP
-
ViGene Biosciences adenoviral particle packaged cDNA for APBB1IP gene
-
ViGene Biosciences lentiviral particle packaged cDNA for APBB1IP gene
-
ViGene Biosciences ready-to-package AAV shRNAs for APBB1IP gene
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}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytosol | 5 |
| cytoskeleton | 4 |
| nucleus | 2 |
| mitochondrion | 1 |
- Cytosol (4)
- Plasma membrane (4)
| 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,IEA | -- |
| GO:0005925 | focal adhesion | IEA | -- |
Pathways & Interactions for APBB1IP Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | RET signaling |
.92
|
.92
|
| 2 | Signaling by moderate kinase activity BRAF mutants | ||
| 3 | Integrin alphaIIb beta3 signaling | ||
| 4 | Developmental Biology |
.51
|
|
| 5 | Cytokine Signaling in Immune system | ||
Pathways by source for APBB1IP Gene
1 Sino Biological pathway for APBB1IP Gene
61 Reactome pathways for APBB1IP Gene
2 KEGG pathways for APBB1IP Gene
Interacting Proteins for APBB1IP Gene
Selected Interacting proteins:
Q7Z5R6-AB1IP_HUMAN
ENSP00000365411
for APBB1IP Gene via
IID
STRING
UniProtKB
MINT
| 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 | -- |
No data available for SIGNOR curated interactions for APBB1IP Gene
Transcripts for APBB1IP Gene
mRNA/cDNA for APBB1IP Gene
- (3) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (65) Selected AceView cDNA sequences:
- (3) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for APBB1IP Gene
CRISPR Products
-
OriGene CRISPR knockouts for APBB1IP
- genomics-online: gRNA clones - Search results for available APBB1IP gene related products
- Applied Biological Materials CRISPR for APBB1IP
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for APBB1IP
- GenScript: Design CRISPR guide RNA sequences for APBB1IP
miRNA Products
- Search ViGene Biosciences for APBB1IP
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for APBB1IP
- Browse OriGene Inhibitory RNA Products For APBB1IP
- genomics-online: shRNA clones - Search results for available APBB1IP gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for APBB1IP gene
Clone Products
- Sino Biological Human cDNA Clone for APBB1IP
- VectorBuilder custom plasmid, inducible vectors for APBB1IP
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for APBB1IP
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for APBB1IP
- genomics-online: cdna clones - Search results for available APBB1IP gene related products
- orf clones - Search results for available APBB1IP gene related products
- Applied Biological Materials Clones for APBB1IP
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: | - | - |
Expression for APBB1IP Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Hematopoietic Bone Marrow
- Hematopoietic Stem Cells Hematopoietic Bone Marrow
- Granulocytes Peripheral Blood
- Bone (Muscoskeletal System)
- Brain (Nervous System)
-
Peripheral Nervous System (Nervous System)
- Schwann Precursor Cells Peripheral Nerve Domain
-
Testis (Reproductive System)
- Leydig Cells Testis Interstitium
-
Fibroblasts
- Mature Cardiac Fibroblasts Myocardium
-
Heart (Cardiovascular System)
- Mature Cardiac Fibroblasts Myocardium
mRNA differential expression in normal tissues according to GTEx for APBB1IP Gene
This gene is overexpressed in Whole Blood (x26.3).
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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of APBB1IP Gene:
APBB1IPSOURCE GeneReport for Unigene cluster for APBB1IP Gene:
Hs.310421mRNA 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)
Primer Products
-
OriGene qPCR primer pairs for APBB1IP
-
OriGene qPCR primer pairs and template standards for APBB1IP
- genomics-online: primer clones - Search results for available APBB1IP gene related products
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | APBB1IP 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | APBB1IP 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | APBB1IP 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Apbb1ip 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Apbb1ip 16 34 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | APBB1IP 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | APBB1IP 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | APBB1IP 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | APBB1IP 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | apbb1ip 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | apbb1ip 34 33 |
|
OneToOne | |
| zgc63968 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | pico 34 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | mig-10 34 |
|
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)
Paralogs for APBB1IP Gene
(1) SIMAP similar genes for APBB1IP Gene using alignment to 3 proteins:
Pseudogenes.org Pseudogenes for APBB1IP Gene
Variants for APBB1IP Gene
| SNP ID | Clin | Chr 10 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000018341 | -- | 26,516,568(+) | C/A/T | intron_variant | |
| rs1000031655 | -- | 26,475,038(+) | G/T | genic_upstream_transcript_variant, intron_variant | |
| rs1000039312 | -- | 26,504,692(+) | A/G | intron_variant | |
| rs1000048075 | -- | 26,450,884(+) | C/G | genic_upstream_transcript_variant, intron_variant | |
| rs1000060830 | -- | 26,556,702(+) | G/A | intron_variant |
| 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 |
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)
Additional Variant Information for APBB1IP Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- APBB1IP
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for APBB1IP Gene
Disorders for APBB1IP Gene
Additional Disease Information for APBB1IP
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No disorders were found for APBB1IP Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for APBB1IP Gene
Publications for APBB1IP Gene
- RIAM, an Ena/VASP and Profilin ligand, interacts with Rap1-GTP and mediates Rap1-induced adhesion. (PMID: 15469846) Lafuente EM … Boussiotis VA (Developmental cell 2004) 3 4 22 58
- The retinoic acid-responsive proline-rich protein is identified in promyeloleukemic HL-60 cells. (PMID: 14530287) Inagaki T … Hashizume K (The Journal of biological chemistry 2003) 3 4 22 58
- 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 DK (Pharmacogenetics and genomics 2012) 3 44 58
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
- Association studies of 23 positional/functional candidate genes on chromosome 10 in late-onset Alzheimer's disease. (PMID: 17373700) Morgan AR … Williams J (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007) 3 44 58
Products for APBB1IP Gene
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- Cloud-Clone Corp. Antibodies for APBB1IP
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- Cloud-Clone Corp. disease models service
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- Cloud-Clone Corp. primary cells service
- Cyagen custom Knockout/knockin (KOKI) mouse models for APBB1IP
- VectorBuilder custom plasmid, inducible vectors for APBB1IP
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for APBB1IP
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for APBB1IP
- antibodies-online: Search results for 70 available APBB1IP Antibodies ranked by validation data
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- antibodies-online: Search results for available APBB1IP related products ranked by validation data
- antibodies-online: Search results for 6 available APBB1IP Proteins ranked by validation data
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- Quality Products:
- Search GeneTex for Antibodies for APBB1IP
- Search GeneTex for Proteins for APBB1IP
- ViGene Biosciences adenoviral particle packaged cDNA for APBB1IP gene
- ViGene Biosciences lentiviral particle packaged cDNA for APBB1IP gene
- ViGene Biosciences ready-to-package AAV shRNAs for APBB1IP gene
- Search ViGene Biosciences for APBB1IP
- Horizon Cell Lines for APBB1IP
- genomics-online: cdna clones - Search results for available APBB1IP gene related products
- orf clones - Search results for available APBB1IP gene related products
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- genomics-online: primer clones - Search results for available APBB1IP gene related products
- genomics-online: shRNA clones - Search results for available APBB1IP gene related products
Sources for APBB1IP Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems