Free for academic non-profit institutions. Other users need a Commercial license
Aliases for APBB1IP Gene
Aliases for APBB1IP Gene
- Amyloid Beta Precursor Protein Binding Family B Member 1 Interacting Protein 2 3 5
- RIAM 2 3 4
- Amyloid Beta A4 Precursor Protein-Binding Family B Member 1-Interacting Protein 3 4
- 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
External Ids for APBB1IP Gene
- HGNC: 17379
- NCBI Entrez Gene: 54518
- Ensembl: ENSG00000077420
- OMIM®: 609036
- UniProtKB/Swiss-Prot: 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. Diseases associated with APBB1IP include Leukocyte Adhesion Deficiency, Type I and Cerebral Cavernous Malformations. Among its related pathways are RET signaling and Signaling by GPCR. An important paralog of this gene is RAPH1.
UniProtKB/Swiss-Prot Summary 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
- HGNC (17379)
- NCBI Entrez Gene (54518)
- Ensembl (ENSG00000077420)
- OMIM® (609036)
- UniProtKB/Swiss-Prot (Q7Z5R6)
- Open Targets Platform(ENSG00000077420)
- Monarch Initiative
- Alliance of Genome Resources
- Search for APBB1IP at DataMed
- Search for APBB1IP at HumanCyc
No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for APBB1IP Gene
Genomics for APBB1IP Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for APBB1IP Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around APBB1IP on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for APBB1IP
- Top Transcription factor binding sites by QIAGEN in the APBB1IP gene promoter:
-
- AP-1
- ATF-2
- c-Fos
- c-Jun
Genomic Locations for APBB1IP Gene
Latest Assembly
- chr10:26,438,324-26,567,879
- (GRCh38/hg38)
- Size:
- 129,556 bases
- Orientation:
- Plus strand
Previous Assembly
- chr10:26,727,270-26,856,732
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 129,463 bases
- Orientation:
- Plus strand
Genomic View for APBB1IP Gene
Genes around APBB1IP on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 10p12.1 by HGNC
- 10p12.1 by Entrez Gene
- 10p12.1 by Ensembl
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:
Antibodies for research
- G Biosciences Immunotag™ APBB1IP Antibody
- NSJ Bioreagents RIAM Antibody
- Novus Biologicals Antibodies for APBB1IP
-
Abcam antibodies for APBB1IP
- Invitrogen Antibodies for APBB1IP (AFLGC-APBB1IP)
-
Biorbyt antibodies for APBB1IP
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for APBB1IP
- Origene Custom Protein Services for APBB1IP
- antibodies-online: Show 6 available APBB1IP Proteins ranked by validation data
- Compare Top APBB1IP Proteins
-
Quality Products:
-
Abcam proteins for APBB1IP
Assay products for research
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:
-
- Pleckstrin-like
Suggested Antigen Peptide Sequences for APBB1IP Gene
- GenScript: Design optimal peptide antigens:
-
- Retinoic acid-responsive proline-rich protein 1 (AB1IP_HUMAN)
- cDNA FLJ61520, highly similar to Amyloid beta A4 protein-bindingfamily B member 1- interacting protein (B4E100_HUMAN)
- cDNA FLJ20805 fis, clone ADSE02009 (Q9NWJ6_HUMAN)
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:
-
- Strongly decreased CFP-tsO45G cell surface transport
- Decreased viability
- Mildly decreased CFP-tsO45G cell surface transport
- no effect
- Increased viability
- Decreased influenza A/WSN/33 replication
- Increased epidermal growth factor receptor (EGFR) surface abundance
- Abundance of large cells with protrusions and bright nuclei
- Decreased influenza A H1N1 (A/Hamburg/04/2009) virus numbers
- Metaphase cells
Animal Models for APBB1IP Gene
- MGI Knock Outs for APBB1IP:
-
- Apbb1ip Apbb1ip<tm1(KOMP)Vlcg>
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for APBB1IP - Starting at $85 >
- * APBB1IP CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for APBB1IP
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for APBB1IP
-
Santa Cruz Biotechnology (SCBT) CRISPR for APBB1IP
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for APBB1IP
- Browse OriGene Inhibitory RNA Products For APBB1IP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APBB1IP
Clone products for research
- Applied Biological Materials (abm): Clones for APBB1IP - Starting at $45 >
- * APBB1IP as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for APBB1IP
- Addgene plasmids for APBB1IP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for APBB1IP
Cell Lines for research
-
Horizon Cell Lines for APBB1IP
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 |
|---|---|
| cytosol | 5 |
| plasma membrane | 4 |
| cytoskeleton | 4 |
| extracellular | 2 |
| nucleus | 2 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 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 | IBA,IDA | -- |
| GO:0005925 | focal adhesion | IEA | -- |
Pathways & Interactions for APBB1IP Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | RET signaling |
.92
|
.92
|
| 2 | Paradoxical activation of RAF signaling by kinase inactive BRAF | ||
| 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
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for APBB1IP
| 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
- 1 REFSEQ mRNAs :
- 9 NCBI additional mRNA sequence :
- 3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000356785 1513 nts (view in UCSC)
- ENST00000376236 2633 nts (view in UCSC)
- ENST00000493857 753 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for APBB1IP - Starting at $85 >
- * APBB1IP CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for APBB1IP
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for APBB1IP
-
Santa Cruz Biotechnology (SCBT) CRISPR for APBB1IP
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for APBB1IP
- Browse OriGene Inhibitory RNA Products For APBB1IP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APBB1IP
Clone products for research
- Applied Biological Materials (abm): Clones for APBB1IP - Starting at $45 >
- * APBB1IP as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for APBB1IP
- Addgene plasmids for APBB1IP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for APBB1IP
| 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
Expression for APBB1IP Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Granulocytes Peripheral Blood
- Hematopoietic Stem Cells Hematopoietic Bone Marrow
- Hematopoietic Bone Marrow
-
Heart (Cardiovascular System)
- Mature Cardiac Fibroblasts Myocardium
-
Fibroblasts
- Mature Cardiac Fibroblasts Myocardium
-
Testis (Reproductive System)
- Leydig Cells Testis Interstitium
-
Peripheral Nervous System (Nervous System)
- Schwann Precursor Cells Peripheral Nerve Domain
- Brain (Nervous System)
- Bone (Muscoskeletal System)
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, MaxQB, and MOPED for APBB1IP Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for APBB1IP
SOURCE 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(4.5)
- Liver(4.4)
- Lymph node(3.1)
- Spleen(3.1)
- Bone marrow(2.9)
- Intestine(2.8)
- Nervous system(2.4)
- Heart(2.2)
Primer products for research
-
OriGene qPCR primer pairs for APBB1IP
-
OriGene qPCR primer pairs and template standards for APBB1IP
Gene Expression Assays for research
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 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | APBB1IP 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | APBB1IP 29 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Apbb1ip 29 |
|
||
| Mouse (Mus musculus) |
Mammalia | Apbb1ip 29 16 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | APBB1IP 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | APBB1IP 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | APBB1IP 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | APBB1IP 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | apbb1ip 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | apbb1ip 29 30 |
|
OneToOne | |
| zgc63968 29 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | pico 30 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | mig-10 30 |
|
OneToMany |
- Species where no ortholog for APBB1IP was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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)
- Aminode:
- Evolutionary constrained regions (ECRs) for APBB1IP: view image
- Alliance of Genome Resources:
- Additional Orthologs for APBB1IP
Paralogs for APBB1IP Gene
Variants for APBB1IP Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for APBB1IP Gene
| SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs143061604 | Benign: not provided | 26,560,760(+) |
C/T NM_019043.4(APBB1IP):c.1285C>T (p.Arg429Trp) |
MISSENSE | |
| rs149483004 | Benign: not provided | 26,511,839(+) |
C/T NM_019043.4(APBB1IP):c.624C>T (p.Phe208=) |
SYNONYMOUS | |
| rs200114349 | Benign: not provided | 26,567,352(+) |
C/T NM_019043.4(APBB1IP):c.1865C>T (p.Ala622Val) |
MISSENSE | |
| rs7903226 | Benign: not provided | 26,567,336(+) |
G/Ap.Ala617Thr NM_019043.4(APBB1IP):c.1849G>A (p.Ala617Thr) |
MISSENSE | |
| rs34081356 | -- |
p.Thr404Ala |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for APBB1IP Gene
Disorders for APBB1IP Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| leukocyte adhesion deficiency, type i |
|
|
| cerebral cavernous malformations |
|
|
| leukocyte adhesion deficiency, type iii |
|
|
| combined immunodeficiency |
|
|
Search APBB1IP in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for APBB1IP
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for 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
- 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
- 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 40
- 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 40
- 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 40
ExternalLinks
Products for APBB1IP Gene
- Custom Antibody ServicesOriGene Antibodies for APBB1IP
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for APBB1IP
- Origene Custom Protein Services for APBB1IP
- Origene shrna, sirna, and RNAi products in human, mouse, rat for APBB1IP
- Browse OriGene Inhibitory RNA Products For APBB1IP
- OriGene qPCR primer pairs for APBB1IP
- OriGene qPCR primer pairs and template standards for APBB1IP
- OriGene CRISPR knockouts for APBB1IP
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For APBB1IP
- Sino Biological Human cDNA Clone for APBB1IP
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for APBB1IP
- Novus Biologicals proteins and lysates for APBB1IP
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for APBB1IP
- Abcam proteins for APBB1IP
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Invitrogen Antibodies for APBB1IP (AFLGC-APBB1IP)
- VectorBuilder Custom and pre-made DNA vectors for APBB1IP (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for APBB1IP (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for APBB1IP (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for APBB1IP CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for APBB1IP
- Addgene plasmids for APBB1IP
- antibodies-online: Show 10 available APBB1IP Antibodies ranked by validation data
- Compare Top APBB1IP Antibodies
- antibodies-online: Search results for available APBB1IP related products ranked by validation data
- antibodies-online: Show 6 available APBB1IP Proteins ranked by validation data
- Compare Top APBB1IP Proteins
- Quality Products:
- Horizon Cell Lines for APBB1IP
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for APBB1IP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for APBB1IP
- Search GeneCopoeia for miRNA 3'UTR Target clone products for APBB1IP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APBB1IP
- Biorbyt antibodies for APBB1IP
Sources for APBB1IP Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) ASD
- (27) SAGE
- (28) SOURCE
- (29) HomoloGene
- (30) PanEnsembl
- (31) euGenes
- (32) SGD
- (33) FlyBase
- (34) WormBase
- (35) Pseudogene
- (36) DGV
- (37) dbSNP
- (38) GenAtlas
- (39) HGMD
- (40) GAD
- (41) BGMUT
- (42) HuGE
- (43) Atlas
- (44) GenBank
- (45) HORDE
- (46) HUGE
- (47) IMGT
- (48) Leiden
- (49) miRBase
- (50) DME
- (51) OriGene
- (52) PubMed
- (53) R&D Systems
- (54) Tocris
- (55) Abcam
- (56) Novus Biologicals
- (57) ProSpec
- (58) Sino Biological
- (59) GenScript
- (60) Qiagen
- (61) OCA
- (62) Proteopedia
- (63) MOPED
- (64) neXtProt
- (65) Reactome
- (66) GeneGo (Thomson Reuters)
- (67) DISEASES
- (68) SIMAP
- (69) GenomeRNAi
- (70) LifeMap
- (71) miRTarBase
- (72) MalaCards
- (73) Invitrogen
- (74) BitterDB
- (75) ESI-BIO
- (76) RefSeq
- (77) BioSystems
- (78) MaxQB
- (79) IUPHAR
- (80) BioGPS
- (81) Illumina
- (82) COMPARTMENTS
- (83) HOMER
- (84) PaxDb
- (85) ApexBio
- (86) Addgene
- (87) antibodies-online
- (88) CYP
- (89) NONCODE
- (90) TreeFam
- (91) PathCards
- (92) GeneReviews
- (93) GeneTex
- (94) Taconic Biosciences
- (95) GTEx
- (96) ProteomicsDB
- (97) SCBT
- (98) DGIdb
- (99) ClinicalTrials
- (100) RVIS
- (101) SIGNOR
- (102) diseasecard
- (103) NIH Rare Diseases
- (104) Orphanet
- (105) UMLS
- (106) GTR
- (107) Disease Ontology
- (108) MedlinePlus Genetics
- (109) MeSH
- (110) MedlinePlus
- (111) CDC
- (112) NINDS
- (113) NCBI Bookshelf
- (114) ClinVar
- (115) Gene Damage Index
- (116) HPO
- (117) UDN
- (118) VISTA
- (119) FANTOM5
- (120) ENCODE
- (121) ProSci
- (122) Horizon
- (123) The Signaling Pathways Project (SPP)
- (124) IID
- (125) VectorBuilder
- (126) SNPedia
- (127) BRCA Exchange
- (128) CIViC
- (129) ProteoGenix
- (130) dbSUPER
- (131) TISSUES
- (132) Gene ORGANizer
- (133) abm
- (134) Human Protein Atlas
- (135) GWAS Catalog
- (136) Monarch Initiative
- (137) DataMed
- (138) HumanCyc
- (139) UCNEbase
- (140) EPDnew
- (141) Applied Biosystems
- (142) GlyConnect
- (143) Aminode
- (144) GeneCopoeia
- (145) GPS-Prot
- (146) RNAcentral
- (147) LncRNADisease
- (148) LOVD
- (149) miR2Disease
- (150) DiseaseEnhancer
- (151) Boster Bio
- (152) Biorbyt
- (153) Biocompare
- (154) Mastermind
- (155) CTD^2 Dashboard
- (156) CraniofacialAtlas
- (157) GeneImprint
- (158) Synthego
- (159) ENA
- (160) GtRNAdb
- (161) LncBase
- (162) LncBook
- (163) LNCipedia
- (164) Modomics
- (165) PDBe
- (166) Rfam
- (167) SILVA
- (168) snOPY
- (169) SRPDB
- (170) GENCODE
- (171) TarBase
- (172) Open Targets Platform
- (173) 5SRRNADB
- (174) snoDB
- (175) MirGeneDB
- (176) Alliance of Genome Resources