APBB1IP (amyloid beta precursor protein binding family B member 1 interacting protein)

Gene

• Entrez ID: 54518
• Gene name: Amyloid beta precursor protein binding family B member 1 interacting protein
• Gene symbol: APBB1IP
• Synonyms (NCBI Gene): INAG1, PREL1, RARP1, RIAM
• Chromosome: 10
• Chromosome location: 10p12.1

miRNA

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
MIRT1932637	hsa-miR-181b	CLIP-seq
MIRT1932638	hsa-miR-181c	CLIP-seq
MIRT1932639	hsa-miR-181d	CLIP-seq
MIRT1932640	hsa-miR-2682	CLIP-seq
MIRT1932641	hsa-miR-3202	CLIP-seq
MIRT1932642	hsa-miR-4262	CLIP-seq
MIRT1932643	hsa-miR-4423-3p	CLIP-seq
MIRT1932644	hsa-miR-4453	CLIP-seq
MIRT1932645	hsa-miR-449c	CLIP-seq
MIRT1932646	hsa-miR-4533	CLIP-seq
MIRT1932647	hsa-miR-4538	CLIP-seq
MIRT1932648	hsa-miR-940	CLIP-seq
MIRT1932636	hsa-miR-181a	CLIP-seq
MIRT1932637	hsa-miR-181b	CLIP-seq
MIRT1932638	hsa-miR-181c	CLIP-seq
MIRT1932639	hsa-miR-181d	CLIP-seq
MIRT1932640	hsa-miR-2682	CLIP-seq
MIRT1932641	hsa-miR-3202	CLIP-seq
MIRT1932642	hsa-miR-4262	CLIP-seq
MIRT1932643	hsa-miR-4423-3p	CLIP-seq
MIRT1932644	hsa-miR-4453	CLIP-seq
MIRT1932645	hsa-miR-449c	CLIP-seq
MIRT1932646	hsa-miR-4533	CLIP-seq
MIRT1932647	hsa-miR-4538	CLIP-seq
MIRT1932648	hsa-miR-940	CLIP-seq
MIRT1932636	hsa-miR-181a	CLIP-seq
MIRT1932637	hsa-miR-181b	CLIP-seq
MIRT1932638	hsa-miR-181c	CLIP-seq
MIRT1932639	hsa-miR-181d	CLIP-seq
MIRT1932640	hsa-miR-2682	CLIP-seq
MIRT1932641	hsa-miR-3202	CLIP-seq
MIRT1932642	hsa-miR-4262	CLIP-seq
MIRT1932643	hsa-miR-4423-3p	CLIP-seq
MIRT1932644	hsa-miR-4453	CLIP-seq
MIRT1932645	hsa-miR-449c	CLIP-seq
MIRT1932646	hsa-miR-4533	CLIP-seq
MIRT1932647	hsa-miR-4538	CLIP-seq
MIRT1932648	hsa-miR-940	CLIP-seq

Gene ontology (GO)

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
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005925	Component	Focal adhesion	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0016020	Component	Membrane	IEA
GO:0030027	Component	Lamellipodium	IEA
GO:0042101	Component	T cell receptor complex	IEA
GO:0042995	Component	Cell projection	IEA
GO:0045785	Process	Positive regulation of cell adhesion	IEA
GO:0070161	Component	Anchoring junction	IEA

Other IDs

• MIM: 609036
• HGNC: 17379
• e!Ensembl: ENSG00000077420

Protein

• UniProt ID: 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
  PF00788	RA	176 → 263	Ras association (RalGDS/AF-6) domain	Domain
  PF00169	PH	311 → 419	PH 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
  VEVLSDWTRDTENKILFLEKEEKYAVFKNPQNFYLDNRGKKESKETNEKMNAKNKESLLE
  ESFCGTSIIVPELEGALYLKEDGKKSWKRRYFLLRASGIYYVPKGKTKTSRDLACFIQFE
  NVNIYYGTQHKMKYKAPTDYCFVLKHPQIQKESQYIKYLCCDDTRTLNQWVMGIRIAKYG
  KTLYDNYQRAVAKAGLASRWTNLGTVNAAAPAQPSTGPKTGTTQPNGQIPQATHSVSAVL
  QEAQRHAETSKDKKPALGNHHDPAVPRAPHAPKSSLPPPPPVRRSSDTSGSPATPLKAKG
  TGGGGLPAPPDDFLPPPPPPPPLDDPELPPPPPDFMEPPPDFVPPPPPSYAGIAGSELPP
  PPPPPPAPAPAPVPDSARPPPAVAKRPPVPPKRQENPGHPGGAGGGEQDFMSDLMKALQK
  KRGNVS

• Sequence length: 666

Pathways

KEGG:

Rap1 signaling pathway
Platelet activation

Reactome:

Integrin signaling
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

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
Phenotype Name	Clinical Significance	Source	Evidence Score
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
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
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	29808795		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	21454517		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	21454517		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	39186994	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21454517		★☆☆☆☆ Found in Text Mining only
Oligodendroglioma	Oligodendroglioma	Pubtator	29631562	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	29808795		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	21454517		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	21454517		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31151932	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	37932662	Associate	★☆☆☆☆ Found in Text Mining only