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Gene Gene information from NCBI Gene database.
Entrez ID 54518
Gene name Amyloid beta precursor protein binding family B member 1 interacting protein
Gene symbol APBB1IP
Synonyms (NCBI Gene)
INAG1PREL1RARP1RIAM
Chromosome 10
Chromosome location 10p12.1
miRNA miRNA information provided by mirtarbase database.
43 Show/Hide all (43)
miRTarBase ID miRNA Experiments Reference
MIRT739743 hsa-miR-23b HITS-CLIP 33718276
MIRT739744 hsa-miR-23a HITS-CLIP 33718276
MIRT739745 hsa-miR-23c HITS-CLIP 33718276
MIRT739746 hsa-miR-1253 HITS-CLIP 33718276
MIRT1932636 hsa-miR-181a CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19 Show/Hide all (19)
GO ID Ontology Definition Evidence Reference
GO:0002291 Process T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell IEA
GO:0005515 Function Protein binding IPI 22084112, 24705354, 32296183
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IBA
GO:0005829 Component Cytosol IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609036 17379 ENSG00000077420
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7Z5R6
Protein name Amyloid beta A4 precursor protein-binding family B member 1-interacting protein (APBB1-interacting protein 1) (Proline-rich EVH1 ligand 1) (PREL-1) (Proline-rich protein 73) (Rap1-GTP-interacting adapter molecule) (RIAM) (Retinoic acid-responsive proline-
Protein 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. {ECO:0000269|PubMed:14530287, ECO:0000269|Pu
PDB 2MWN , 3ZDL
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00169 PH 311 → 419 PH domain Domain
PF00788 RA 176 → 263 Ras association (RalGDS/AF-6) domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed with high expression in thymus, spleen, lymph node, bone marrow and peripheral leukocytes. {ECO:0000269|PubMed:14530287, ECO:0000269|PubMed:15469846}.
Sequence
MGESSEDIDQMFSTLLGEMDLLTQSLGVDTLPPPDPNPPRAEFNYSVGFKDLNESLNALE
DQDLDALMADLVADISEAEQRTIQAQKESLQNQHHSASLQASIFSGAASLGYGTNVAATG
ISQYEDDLPPPPADPVLDLPLPPPPPEPLSQEEEEAQAKADKIKLALEKLKEAKVKKLVV
KVHMNDNSTKSLMVDERQLARDVLDNLFEKTHCDCNVDWCLYEIYPELQIERFFEDHENV
VEVLSDWTRDTENKILFLEKEEK
YAVFKNPQNFYLDNRGKKESKETNEKMNAKNKESLLE
ESFCGTSIIVPELEGALYLKEDGKKSWKRRYFLLRASGIYYVPKGKTKTSRDLACFIQFE
NVNIYYGTQHKMKYKAPTDYCFVLKHPQIQKESQYIKYLCCDDTRTLNQWVMGIRIAKY
G
KTLYDNYQRAVAKAGLASRWTNLGTVNAAAPAQPSTGPKTGTTQPNGQIPQATHSVSAVL
QEAQRHAETSKDKKPALGNHHDPAVPRAPHAPKSSLPPPPPVRRSSDTSGSPATPLKAKG
TGGGGLPAPPDDFLPPPPPPPPLDDPELPPPPPDFMEPPPDFVPPPPPSYAGIAGSELPP
PPPPPPAPAPAPVPDSARPPPAVAKRPPVPPKRQENPGHPGGAGGGEQDFMSDLMKALQK
KRGNVS
Sequence length 666
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Rap1 signaling pathway Integrin signaling
Platelet activation GRB2:SOS provides linkage to MAPK signaling for Integrins
  p130Cas linkage to MAPK signaling for integrins
  MAP2K and MAPK activation
  Signaling by moderate kinase activity BRAF mutants
  Signaling by high-kinase activity BRAF mutants
  Signaling by BRAF and RAF fusions
  Paradoxical activation of RAF signaling by kinase inactive BRAF
  Signaling downstream of RAS mutants
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
SCOLIOSIS — GWAS catalog 30019117
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS — GWAS catalog 38685053
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM — GWAS catalog 33667223
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (21)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Autoimmune Diseases Autoimmune Diseases BEFREE 28348273
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 35739271 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 32547313 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 29808795
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 28629469 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Coronary Artery Disease Coronary artery disease Pubtator 39186994 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Diabetes Diabetes BEFREE 28348273
★★★★★
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes Mellitus BEFREE 28348273
★★★★★
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent Diabetes Mellitus BEFREE 28348273
★★★★★
★☆☆☆☆
Found in Text Mining only
Hypertensive disease Hypertension GWASCAT_DG 22566498
★★★★★
★☆☆☆☆
Found in Text Mining only