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DAB2IP DAB2 interacting protein [ Homo sapiens (human) ]

Gene ID: 153090, updated on 8-Oct-2018

Summary

Official Symbol
DAB2IPprovided by HGNC
Official Full Name
DAB2 interacting proteinprovided by HGNC
Primary source
HGNC:HGNC:17294
See related
Ensembl:ENSG00000136848 MIM:609205; Vega:OTTHUMG00000020595
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AIP1; AIP-1; AF9Q34; DIP1/2
Summary
DAB2IP is a Ras (MIM 190020) GTPase-activating protein (GAP) that acts as a tumor suppressor. The DAB2IP gene is inactivated by methylation in prostate and breast cancers (Yano et al., 2005 [PubMed 15386433]).[supplied by OMIM, May 2010]
Expression
Ubiquitous expression in colon (RPKM 8.5), testis (RPKM 8.5) and 24 other tissues See more
Orthologs

Genomic context

See DAB2IP in Genome Data Viewer
Location:
9q33.2
Exon count:
29
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (121566883..121785530)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (124329162..124547809)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene glycoprotein, alpha-galactosyltransferase 1 pseudogene Neighboring gene RNA, 7SL, cytoplasmic 187, pseudogene Neighboring gene uncharacterized LOC107987016 Neighboring gene high mobility group box 1 pseudogene 37 Neighboring gene uncharacterized LOC105376257 Neighboring gene uncharacterized LOC107987125 Neighboring gene tubulin tyrosine ligase like 11

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.
NHGRI GWA Catalog
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
NHGRI GWA Catalog
Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm.
NHGRI GWA Catalog
Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.
NHGRI GWA Catalog
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
NHGRI GWA Catalog
Genome-wide association study of periodontal pathogen colonization.
NHGRI GWA Catalog

Pathways from BioSystems

  • ARMS-mediated activation, organism-specific biosystem (from REACTOME)
    ARMS-mediated activation, organism-specific biosystemARMS (Ankyrin-Rich Membrane Spanning/Kidins 220) is a 220kD tetraspanning adaptor protein which becomes rapidly tyrosine phosphorylated by active Trk receptors. ARMS is another adaptor protein which ...
  • Apoptosis, organism-specific biosystem (from KEGG)
    Apoptosis, organism-specific biosystemApoptosis is a genetically programmed process for the elimination of damaged or redundant cells by activation of caspases (aspartate-specific cysteine proteases). The onset of apoptosis is controlled...
  • Apoptosis, conserved biosystem (from KEGG)
    Apoptosis, conserved biosystemApoptosis is a genetically programmed process for the elimination of damaged or redundant cells by activation of caspases (aspartate-specific cysteine proteases). The onset of apoptosis is controlled...
  • Axon guidance, organism-specific biosystem (from REACTOME)
    Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
  • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
    Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
  • DAP12 interactions, organism-specific biosystem (from REACTOME)
    DAP12 interactions, organism-specific biosystemDNAX activation protein of 12kDa (DAP12) is an immunoreceptor tyrosine-based activation motif (ITAM)-bearing adapter molecule that transduces activating signals in natural killer (NK) and myeloid cel...
  • DAP12 signaling, organism-specific biosystem (from REACTOME)
    DAP12 signaling, organism-specific biosystemIn response to receptor ligation, the tyrosine residues in DAP12's immunoreceptor tyrosine-based activation motif (ITAM) are phosphorylated by Src family kinases. These phosphotyrosines form the dock...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Diseases of signal transduction, organism-specific biosystem (from REACTOME)
    Diseases of signal transduction, organism-specific biosystemSignaling processes are central to human physiology (e.g., Pires-da Silva & Sommer 2003), and their disruption by either germ-line and somatic mutation can lead to serious disease. Here, the molecula...
  • Downstream signal transduction, organism-specific biosystem (from REACTOME)
    Downstream signal transduction, organism-specific biosystemThe role of autophosphorylation sites on PDGF receptors are to provide docking sites for downstream signal transduction molecules which contain SH2 domains. The SH2 domain is a conserved motif of aro...
  • FCERI mediated MAPK activation, organism-specific biosystem (from REACTOME)
    FCERI mediated MAPK activation, organism-specific biosystemFormation of the LAT signaling complex leads to activation of MAPK and production of cytokines. The sequence of events that leads from LAT to cytokine production has not been as clearly defined as th...
  • Fc epsilon receptor (FCERI) signaling, organism-specific biosystem (from REACTOME)
    Fc epsilon receptor (FCERI) signaling, organism-specific biosystemMast cells (MC) are distributed in tissues throughout the human body and have long been recognized as key cells of type I hypersensitivity reactions. They also play important roles in inflammatory an...
  • Frs2-mediated activation, organism-specific biosystem (from REACTOME)
    Frs2-mediated activation, organism-specific biosystemThe adaptor protein Frs2 (Fibroblast growth factor receptor substrate 2) can mediate the prolonged activation of the MAPK (ERK) cascade.
  • GRB2 events in EGFR signaling, organism-specific biosystem (from REACTOME)
    GRB2 events in EGFR signaling, organism-specific biosystemAutophosphorylated EGFR tyrosine residues are docking sites for many downstream effectors in EGFR signaling. The adaptor protein GRB2 binds to phosphotyrosine residues in the C-tail of EGFR through i...
  • Gastrin-CREB signalling pathway via PKC and MAPK, organism-specific biosystem (from REACTOME)
    Gastrin-CREB signalling pathway via PKC and MAPK, organism-specific biosystemGastrin is a hormone whose main function is to stimulate secretion of hydrochloric acid by the gastric mucosa, which results in gastrin formation inhibition. This hormone also acts as a mitogenic fac...
  • IGF1R signaling cascade, organism-specific biosystem (from REACTOME)
    IGF1R signaling cascade, organism-specific biosystemAfter autophosphorylation the type 1 insulin-like growth factor receptor (IGF1R) binds and phosphorylates scaffold proteins, IRS1/2/4 and SHC1, which in turn bind effectors possessing enzymatic activ...
  • IRS-mediated signalling, organism-specific biosystem (from REACTOME)
    IRS-mediated signalling, organism-specific biosystemRelease of phospho-IRS from the insulin receptor triggers a cascade of signalling events via PI3K, SOS, RAF and the MAP kinases.
  • IRS-related events triggered by IGF1R, organism-specific biosystem (from REACTOME)
    IRS-related events triggered by IGF1R, organism-specific biosystemThe phosphorylated type 1 insulin-like growth factor receptor phosphorylates IR1, IRS2, IRS4 and possibly other IRS/DOK family members (reviewed in Pavelic et al. 2007, Chitnis et al. 2008, Maki et a...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Insulin receptor signalling cascade, organism-specific biosystem (from REACTOME)
    Insulin receptor signalling cascade, organism-specific biosystemAutophosphorylation of the insulin receptor triggers a series of signalling events, mediated by SHC or IRS, and resulting in activation of the Ras/RAF and MAP kinase cascades. A second effect of the ...
  • Interleukin receptor SHC signaling, organism-specific biosystem (from REACTOME)
    Interleukin receptor SHC signaling, organism-specific biosystemPhosphorylation of Shc at three tyrosine residues, 239, 240 (Gotoh et al. 1996) and 317 (Salcini et al. 1994) involves unidentified tyrosine kinases presumed to be part of the activated receptor comp...
  • Interleukin-2 signaling, organism-specific biosystem (from REACTOME)
    Interleukin-2 signaling, organism-specific biosystemInterleukin-2 (IL-2) is a cytokine that is produced by T cells in response to antigen stimulation. Originally, IL-2 was discovered because of its potent growth factor activity on activated T cells in...
  • Interleukin-3, 5 and GM-CSF signaling, organism-specific biosystem (from REACTOME)
    Interleukin-3, 5 and GM-CSF signaling, organism-specific biosystemThe Interleukin-3 (IL-3), IL-5 and Granulocyte-macrophage colony stimulating factor (GM-CSF) receptors form a family of heterodimeric receptors that have specific alpha chains but share a common beta...
  • MAPK family signaling cascades, organism-specific biosystem (from REACTOME)
    MAPK family signaling cascades, organism-specific biosystemThe mitogen activated protein kinases (MAPKs) are a family of conserved protein serine threonine kinases that respond to varied extracellular stimuli to activate intracellular processes including gen...
  • MAPK1/MAPK3 signaling, organism-specific biosystem (from REACTOME)
    MAPK1/MAPK3 signaling, organism-specific biosystemThe extracellular signal regulated kinases (ERKs) 1 and 2, also known as MAPK3 and MAPK1, are phosphorylated by the MAP2Ks 1 and 2 in response to a wide range of extracellular stimuli to promote diff...
  • NCAM signaling for neurite out-growth, organism-specific biosystem (from REACTOME)
    NCAM signaling for neurite out-growth, organism-specific biosystemThe neural cell adhesion molecule, NCAM, is a member of the immunoglobulin (Ig) superfamily and is involved in a variety of cellular processes of importance for the formation and maintenance of the n...
  • NGF signalling via TRKA from the plasma membrane, organism-specific biosystem (from REACTOME)
    NGF signalling via TRKA from the plasma membrane, organism-specific biosystemTrk receptors signal from the plasma membrane and from intracellular membranes, particularly from early endosomes. Signalling from the plasma membrane is fast but transient; signalling from endosomes...
  • Oncogenic MAPK signaling, organism-specific biosystem (from REACTOME)
    Oncogenic MAPK signaling, organism-specific biosystemThe importance of the RAS/RAF/MAPK cascade in regulating cellular proliferation, differentiation and survival is highlighted by the fact that components of the pathway are mutated with high frequency...
  • PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases, organism-specific biosystem (from REACTOME)
    PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases, organism-specific biosystemPTK6 promotes cell motility and migration by regulating the activity of RHO GTPases RAC1 (Chen et al. 2004) and RHOA (Shen et al. 2008). PTK6 inhibits RAS GTPase activating protein RASA1 (Shen et al....
  • Prolonged ERK activation events, organism-specific biosystem (from REACTOME)
    Prolonged ERK activation events, organism-specific biosystemAfter NGF binding, activated Trk receptors provide multiple docking sites for adaptor proteins and enzymes. Two docking proteins, the Ankyrin-Rich Membrane Spanning protein (ARMS/Kidins220) and Fibro...
  • RAF/MAP kinase cascade, organism-specific biosystem (from REACTOME)
    RAF/MAP kinase cascade, organism-specific biosystemThe RAS-RAF-MEK-ERK pathway regulates processes such as proliferation, differentiation, survival, senescence and cell motility in response to growth factors, hormones and cytokines, among others. Bin...
  • RET signaling, organism-specific biosystem (from REACTOME)
    RET signaling, organism-specific biosystemThe RET proto-oncogene encodes a receptor tyrosine kinase expressed primarily in urogenital precursor cells, spermatogonocytes, dopaminergic neurons, motor neurons and neural crest progenitors and de...
  • Regulation of RAS by GAPs, organism-specific biosystem (from REACTOME)
    Regulation of RAS by GAPs, organism-specific biosystemThe intrinsic GTPase activity of RAS proteins is stimulated by the GAP proteins, of which there are at least 10 in the human genome (reviewed in King et al, 2013).
  • SHC1 events in EGFR signaling, organism-specific biosystem (from REACTOME)
    SHC1 events in EGFR signaling, organism-specific biosystemGRB2 can bind EGFR directly or through another SH2-containing protein, SHC1. This association leads to RAS activation.
  • SOS-mediated signalling, organism-specific biosystem (from REACTOME)
    SOS-mediated signalling, organism-specific biosystemSOS is recruited to the plasma membrane and mediates activation of Ras.
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by EGFR, organism-specific biosystem (from REACTOME)
    Signaling by EGFR, organism-specific biosystemThe epidermal growth factor receptor (EGFR) is one member of the ERBB family of transmembrane glycoprotein tyrosine receptor kinases (RTK). Binding of EGFR to its ligands induces conformational chang...
  • Signaling by GPCR, organism-specific biosystem (from REACTOME)
    Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
  • Signaling by Insulin receptor, organism-specific biosystem (from REACTOME)
    Signaling by Insulin receptor, organism-specific biosystemInsulin binding to its receptor results in receptor autophosphorylation on tyrosine residues and the tyrosine phosphorylation of insulin receptor substrates (e.g. IRS and Shc) by the insulin receptor...
  • Signaling by Interleukins, organism-specific biosystem (from REACTOME)
    Signaling by Interleukins, organism-specific biosystemInterleukins are low molecular weight proteins that bind to cell surface receptors and act in an autocrine and/or paracrine fashion. They were first identified as factors produced by leukocytes but a...
  • Signaling by Leptin, organism-specific biosystem (from REACTOME)
    Signaling by Leptin, organism-specific biosystemLeptin (LEP, OB, OBS), a circulating adipokine, and its receptor LEPR (DB, OBR) control food intake and energy balance and are implicated in obesity-related diseases (recently reviewed in Amitani et ...
  • Signaling by PDGF, organism-specific biosystem (from REACTOME)
    Signaling by PDGF, organism-specific biosystemPlatelet-derived Growth Factor (PDGF) is a potent stimulator of growth and motility of connective tissue cells such as fibroblasts and smooth muscle cells as well as other cells such as capillary end...
  • Signaling by PTK6, organism-specific biosystem (from REACTOME)
    Signaling by PTK6, organism-specific biosystemPTK6 (BRK) is an oncogenic non-receptor tyrosine kinase that functions downstream of ERBB2 (HER2) (Xiang et al. 2008, Peng et al. 2015) and other receptor tyrosine kinases, such as EGFR (Kamalati et ...
  • Signaling by RAS mutants, organism-specific biosystem (from REACTOME)
    Signaling by RAS mutants, organism-specific biosystemMembers of the RAS gene family were the first oncogenes to be identified, and mutations in RAS are present in ~20-30% of human cancers (reviewed in Prior et al, 2012). Mutations in the KRAS gene are ...
  • Signaling by SCF-KIT, organism-specific biosystem (from REACTOME)
    Signaling by SCF-KIT, organism-specific biosystemStem cell factor (SCF) is a growth factor with membrane bound and soluble forms. It is expressed by fibroblasts and endothelial cells throughout the body, promoting proliferation, migration, survival...
  • Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R), organism-specific biosystem (from REACTOME)
    Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R), organism-specific biosystemBinding of IGF1 (IGF-I) or IGF2 (IGF-II) to the extracellular alpha peptides of the type 1 insulin-like growth factor receptor (IGF1R) triggers the activation of two major signaling pathways: the SOS...
  • Signaling by VEGF, organism-specific biosystem (from REACTOME)
    Signaling by VEGF, organism-specific biosystemIn normal development vascular endothelial growth factors (VEGFs) are crucial regulators of vascular development during embryogenesis (vasculogenesis) and blood-vessel formation in the adult (angioge...
  • Signalling by NGF, organism-specific biosystem (from REACTOME)
    Signalling by NGF, organism-specific biosystemNeurotrophins (NGF, BDNF, NT-3, NT-4/5) play pivotal roles in survival, differentiation, and plasticity of neurons in the peripheral and central nervous system. They are produced, and secreted in mi...
  • Signalling to ERKs, organism-specific biosystem (from REACTOME)
    Signalling to ERKs, organism-specific biosystemNeurotrophins utilize multiple pathways to activate ERKs (ERK1 and ERK2), a subgroup of the large MAP kinase (MAPK) family, from the plasma membrane. The major signalling pathways to ERKs are via RAS...
  • Signalling to RAS, organism-specific biosystem (from REACTOME)
    Signalling to RAS, organism-specific biosystemSignalling through Shc adaptor proteins appears to be identical for both NGF and EGF. It leads to a fast, but transient, MAPK/ERK activation, which is insufficient to explain the prolonged activation...
  • Signalling to p38 via RIT and RIN, organism-specific biosystem (from REACTOME)
    Signalling to p38 via RIT and RIN, organism-specific biosystemRIT and RIN are two small guanine nucleotide binding proteins that share more than 50% sequence identity with RAS, including highly conserved core effector domains. Unlike RAS, the C termini of RIT a...
  • TNF signaling pathway, organism-specific biosystem (from KEGG)
    TNF signaling pathway, organism-specific biosystemTumor necrosis factor (TNF), as a critical cytokine, can induce a wide range of intracellular signal pathways including apoptosis and cell survival as well as inflammation and immunity. Activated TNF...
  • TNF signaling pathway, conserved biosystem (from KEGG)
    TNF signaling pathway, conserved biosystemTumor necrosis factor (TNF), as a critical cytokine, can induce a wide range of intracellular signal pathways including apoptosis and cell survival as well as inflammation and immunity. Activated TNF...
  • VEGFA-VEGFR2 Pathway, organism-specific biosystem (from REACTOME)
    VEGFA-VEGFR2 Pathway, organism-specific biosystemAngiogenesis is the formation of new blood vessels from preexisting vasculature. One of the most important proangiogenic factors is vascular endothelial growth factor (VEGF). VEGF exerts its biologic...
  • VEGFR2 mediated cell proliferation, organism-specific biosystem (from REACTOME)
    VEGFR2 mediated cell proliferation, organism-specific biosystemVEGFR2 stimulates ERK not via GRB2-SOS-RAS, but via pY1175-dependent phosphorylation of PLC gamma and subsequent activation of PKCs. PKC plays an important mediatory role in the proliferative Ras/Raf...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ39072, KIAA1743

Gene Ontology Provided by GOA

Function Evidence Code Pubs
14-3-3 protein binding IDA
Inferred from Direct Assay
more info
PubMed 
GTPase activator activity IEA
Inferred from Electronic Annotation
more info
 
SH3 domain binding IDA
Inferred from Direct Assay
more info
PubMed 
NOT Toll-like receptor 4 binding IDA
Inferred from Direct Assay
more info
PubMed 
cadherin binding HDA PubMed 
death receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
mitogen-activated protein kinase kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
mitogen-activated protein kinase kinase kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
phosphatidylinositol 3-kinase binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol 3-kinase regulatory subunit binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol-3-phosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol-4-phosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IDA
Inferred from Direct Assay
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein phosphatase 2A binding IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex binding IDA
Inferred from Direct Assay
more info
PubMed 
signaling adaptor activity IDA
Inferred from Direct Assay
more info
PubMed 
vascular endothelial growth factor receptor 2 binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
I-kappaB phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
MAPK cascade TAS
Traceable Author Statement
more info
 
activation of JUN kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
activation of MAPKKK activity IDA
Inferred from Direct Assay
more info
PubMed 
angiogenesis IEA
Inferred from Electronic Annotation
more info
 
cell cycle IEA
Inferred from Electronic Annotation
more info
 
cell motility involved in cerebral cortex radial glia guided migration ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to epidermal growth factor stimulus ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
cellular response to interleukin-1 IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to lipopolysaccharide IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to tumor necrosis factor IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to unfolded protein TAS
Traceable Author Statement
more info
PubMed 
cellular response to vascular endothelial growth factor stimulus IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to vascular endothelial growth factor stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
endothelial cell apoptotic process TAS
Traceable Author Statement
more info
PubMed 
extrinsic apoptotic signaling pathway via death domain receptors IMP
Inferred from Mutant Phenotype
more info
PubMed 
inflammatory response IEA
Inferred from Electronic Annotation
more info
 
innate immune response IEA
Inferred from Electronic Annotation
more info
 
intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
layer formation in cerebral cortex ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of ERK1 and ERK2 cascade IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of G0 to G1 transition IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of GTPase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of GTPase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of I-kappaB kinase/NF-kappaB signaling IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of MAP kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of MAP kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of NF-kappaB transcription factor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of Ras protein signal transduction IC
Inferred by Curator
more info
PubMed 
negative regulation of angiogenesis IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of canonical Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of canonical Wnt signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cellular protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of endothelial cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of epidermal growth factor receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
negative regulation of epithelial cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of epithelial cell migration TAS
Traceable Author Statement
more info
PubMed 
negative regulation of epithelial cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of epithelial to mesenchymal transition IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of epithelial to mesenchymal transition IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of fibroblast proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of phosphatidylinositol 3-kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of phosphatidylinositol 3-kinase signaling IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of protein phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of protein phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of protein serine/threonine kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of toll-like receptor 4 signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of vascular endothelial growth factor receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of vascular endothelial growth factor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
neuron projection morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of IRE1-mediated unfolded protein response TAS
Traceable Author Statement
more info
PubMed 
positive regulation of JNK cascade IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of JUN kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of MAPK cascade IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of apoptotic signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell cycle arrest IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of dendrite development ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of neuron migration ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of neuron projection development ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of proteasomal protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein serine/threonine kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of synapse maturation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
reelin-mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
regulation of GTPase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of I-kappaB kinase/NF-kappaB signaling ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of growth IEA
Inferred from Electronic Annotation
more info
 
regulation of p38MAPK cascade ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of protein complex assembly IDA
Inferred from Direct Assay
more info
PubMed 
regulation of protein heterodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
tube formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
vascular endothelial growth factor receptor-2 signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
AIP1-IRE1 complex IDA
Inferred from Direct Assay
more info
PubMed 
axon ISS
Inferred from Sequence or Structural Similarity
more info
 
cerebellar mossy fiber ISS
Inferred from Sequence or Structural Similarity
more info
 
climbing fiber ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
dendrite IEA
Inferred from Electronic Annotation
more info
 
endocytic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
neuronal cell body ISS
Inferred from Sequence or Structural Similarity
more info
 
neuronal cell body membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
parallel fiber ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
disabled homolog 2-interacting protein
Names
ASK-interacting protein 1
ASK1-interacting protein 1
DAB2 interaction protein
DOC-2/DAB2 interactive protein
nGAP-like protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_032552.3NP_115941.2  disabled homolog 2-interacting protein isoform 1

    See identical proteins and their annotated locations for NP_115941.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB051530, BC037314, BM545676, BM546615
    Consensus CDS
    CCDS6833.2
    UniProtKB/Swiss-Prot
    Q5VWQ8
    Related
    ENSP00000259371.2, ENST00000259371.6
    Conserved Domains (4) summary
    cd04013
    Location:175314
    C2_SynGAP_like; C2 domain present in Ras GTPase activating protein (GAP) family
    cd05136
    Location:305628
    RasGAP_DAB2IP; Ras-GTPase Activating Domain of DAB2IP and similar proteins
    cd13376
    Location:47233
    PH_DAB2IP; DOC-2/Disabled homolog 2-interacting protein Pleckstrin homology (PH) domain
    pfam12004
    Location:6181122
    DUF3498; Domain of unknown function (DUF3498)
  2. NM_138709.2NP_619723.1  disabled homolog 2-interacting protein isoform 2

    See identical proteins and their annotated locations for NP_619723.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate 5' terminal exon, initiates translation at a downstream start codon and contains a 3' terminal exon that extends past a splice site, compared to variant 1. It encodes isoform 2, which is shorter and has distinct N- and C-termini, compared to isoform 1.
    Source sequence(s)
    AY032952, DA373245
    Consensus CDS
    CCDS6832.1
    UniProtKB/Swiss-Prot
    Q5VWQ8
    Related
    ENSP00000310827.1, OTTHUMP00000022028, ENST00000309989.1, OTTHUMT00000053898
    Conserved Domains (4) summary
    cd04013
    Location:79218
    C2_SynGAP_like; C2 domain present in Ras GTPase activating protein (GAP) family
    cd05136
    Location:209532
    RasGAP_DAB2IP; Ras-GTPase Activating Domain of DAB2IP and similar proteins
    pfam12004
    Location:5221026
    DUF3498; Domain of unknown function (DUF3498)
    cl17171
    Location:1137
    PH-like; Pleckstrin homology-like domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

    Range
    121566883..121785530
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005251721.1XP_005251778.1  disabled homolog 2-interacting protein isoform X7

    See identical proteins and their annotated locations for XP_005251778.1

    Conserved Domains (6) summary
    cd04013
    Location:175314
    C2_SynGAP_like; C2 domain present in Ras GTPase activating protein (GAP) family
    cd05136
    Location:305628
    RasGAP_DAB2IP; Ras-GTPase Activating Domain of DAB2IP and similar proteins
    smart00323
    Location:300621
    RasGAP; GTPase-activator protein for Ras-like GTPases
    cd13376
    Location:47233
    PH_DAB2IP; DOC-2/Disabled homolog 2-interacting protein Pleckstrin homology (PH) domain
    pfam12004
    Location:6181122
    DUF3498; Domain of unknown function (DUF3498)
    cl23720
    Location:10281132
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
  2. XM_011518266.2XP_011516568.1  disabled homolog 2-interacting protein isoform X3

    See identical proteins and their annotated locations for XP_011516568.1

    Conserved Domains (5) summary
    cd04013
    Location:196335
    C2_SynGAP_like; C2 domain present in Ras GTPase activating protein (GAP) family
    cd05136
    Location:326649
    RasGAP_DAB2IP; Ras-GTPase Activating Domain of DAB2IP and similar proteins
    smart00323
    Location:321642
    RasGAP; GTPase-activator protein for Ras-like GTPases
    cd13376
    Location:68254
    PH_DAB2IP; DOC-2/Disabled homolog 2-interacting protein Pleckstrin homology (PH) domain
    pfam12004
    Location:6391143
    DUF3498; Domain of unknown function (DUF3498)
  3. XM_011518267.2XP_011516569.1  disabled homolog 2-interacting protein isoform X4

    Conserved Domains (5) summary
    cd04013
    Location:196335
    C2_SynGAP_like; C2 domain present in Ras GTPase activating protein (GAP) family
    cd05136
    Location:326649
    RasGAP_DAB2IP; Ras-GTPase Activating Domain of DAB2IP and similar proteins
    smart00323
    Location:321642
    RasGAP; GTPase-activator protein for Ras-like GTPases
    cd13376
    Location:68254
    PH_DAB2IP; DOC-2/Disabled homolog 2-interacting protein Pleckstrin homology (PH) domain
    pfam12004
    Location:6391121
    DUF3498; Domain of unknown function (DUF3498)
  4. XM_011518264.3XP_011516566.1  disabled homolog 2-interacting protein isoform X1

    Conserved Domains (6) summary
    cd04013
    Location:196335
    C2_SynGAP_like; C2 domain present in Ras GTPase activating protein (GAP) family
    cd05136
    Location:326649
    RasGAP_DAB2IP; Ras-GTPase Activating Domain of DAB2IP and similar proteins
    smart00323
    Location:321642
    RasGAP; GTPase-activator protein for Ras-like GTPases
    cd13376
    Location:68254
    PH_DAB2IP; DOC-2/Disabled homolog 2-interacting protein Pleckstrin homology (PH) domain
    pfam12004
    Location:6391143
    DUF3498; Domain of unknown function (DUF3498)
    cl23720
    Location:10491153
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
  5. XM_011518265.3XP_011516567.1  disabled homolog 2-interacting protein isoform X2

    Conserved Domains (6) summary
    cd04013
    Location:196335
    C2_SynGAP_like; C2 domain present in Ras GTPase activating protein (GAP) family
    cd05136
    Location:326649
    RasGAP_DAB2IP; Ras-GTPase Activating Domain of DAB2IP and similar proteins
    smart00323
    Location:321642
    RasGAP; GTPase-activator protein for Ras-like GTPases
    cd13376
    Location:68254
    PH_DAB2IP; DOC-2/Disabled homolog 2-interacting protein Pleckstrin homology (PH) domain
    pfam12004
    Location:6391121
    DUF3498; Domain of unknown function (DUF3498)
    cl23720
    Location:10271131
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
  6. XM_024447418.1XP_024303186.1  disabled homolog 2-interacting protein isoform X11

    Conserved Domains (4) summary
    cd04013
    Location:139278
    C2_SynGAP_like; C2 domain present in Ras GTPase activating protein (GAP) family
    cd05136
    Location:269592
    RasGAP_DAB2IP; Ras-GTPase Activating Domain of DAB2IP and similar proteins
    cd13376
    Location:11197
    PH_DAB2IP; DOC-2/Disabled homolog 2-interacting protein Pleckstrin homology (PH) domain
    pfam12004
    Location:5821086
    DUF3498; Domain of unknown function (DUF3498)
  7. XM_005251719.4XP_005251776.1  disabled homolog 2-interacting protein isoform X5

    See identical proteins and their annotated locations for XP_005251776.1

    UniProtKB/Swiss-Prot
    Q5VWQ8
    Related
    ENSP00000386183.3, OTTHUMP00000197225, ENST00000408936.7, OTTHUMT00000317857
    Conserved Domains (4) summary
    cd04013
    Location:203342
    C2_SynGAP_like; C2 domain present in Ras GTPase activating protein (GAP) family
    cd05136
    Location:333656
    RasGAP_DAB2IP; Ras-GTPase Activating Domain of DAB2IP and similar proteins
    pfam12004
    Location:6461150
    DUF3498; Domain of unknown function (DUF3498)
    cl17171
    Location:75261
    PH-like; Pleckstrin homology-like domain
  8. XM_017014300.1XP_016869789.1  disabled homolog 2-interacting protein isoform X10

    UniProtKB/Swiss-Prot
    Q5VWQ8
    Conserved Domains (4) summary
    cd04013
    Location:79218
    C2_SynGAP_like; C2 domain present in Ras GTPase activating protein (GAP) family
    cd05136
    Location:209532
    RasGAP_DAB2IP; Ras-GTPase Activating Domain of DAB2IP and similar proteins
    pfam12004
    Location:5221026
    DUF3498; Domain of unknown function (DUF3498)
    cl17171
    Location:1137
    PH-like; Pleckstrin homology-like domain
  9. XM_011518271.2XP_011516573.1  disabled homolog 2-interacting protein isoform X10

    See identical proteins and their annotated locations for XP_011516573.1

    UniProtKB/Swiss-Prot
    Q5VWQ8
    Conserved Domains (4) summary
    cd04013
    Location:79218
    C2_SynGAP_like; C2 domain present in Ras GTPase activating protein (GAP) family
    cd05136
    Location:209532
    RasGAP_DAB2IP; Ras-GTPase Activating Domain of DAB2IP and similar proteins
    pfam12004
    Location:5221026
    DUF3498; Domain of unknown function (DUF3498)
    cl17171
    Location:1137
    PH-like; Pleckstrin homology-like domain
  10. XM_017014299.1XP_016869788.1  disabled homolog 2-interacting protein isoform X8

  11. XM_024447417.1XP_024303185.1  disabled homolog 2-interacting protein isoform X9

    Related
    ENSP00000497706.1, ENST00000648444.1
    Conserved Domains (4) summary
    cd04013
    Location:142281
    C2_SynGAP_like; C2 domain present in Ras GTPase activating protein (GAP) family
    cd05136
    Location:272595
    RasGAP_DAB2IP; Ras-GTPase Activating Domain of DAB2IP and similar proteins
    pfam12004
    Location:5851089
    DUF3498; Domain of unknown function (DUF3498)
    cl17171
    Location:45200
    PH-like; Pleckstrin homology-like domain
  12. XM_011518270.2XP_011516572.1  disabled homolog 2-interacting protein isoform X10

    See identical proteins and their annotated locations for XP_011516572.1

    UniProtKB/Swiss-Prot
    Q5VWQ8
    Conserved Domains (4) summary
    cd04013
    Location:79218
    C2_SynGAP_like; C2 domain present in Ras GTPase activating protein (GAP) family
    cd05136
    Location:209532
    RasGAP_DAB2IP; Ras-GTPase Activating Domain of DAB2IP and similar proteins
    pfam12004
    Location:5221026
    DUF3498; Domain of unknown function (DUF3498)
    cl17171
    Location:1137
    PH-like; Pleckstrin homology-like domain
  13. XM_017014298.2XP_016869787.1  disabled homolog 2-interacting protein isoform X6

    Conserved Domains (7) summary
    cd04013
    Location:178317
    C2_SynGAP_like; C2 domain present in Ras GTPase activating protein (GAP) family
    cd05136
    Location:308631
    RasGAP_DAB2IP; Ras-GTPase Activating Domain of DAB2IP and similar proteins
    smart00323
    Location:303624
    RasGAP; GTPase-activator protein for Ras-like GTPases
    pfam00169
    Location:124177
    PH; PH domain
    pfam12004
    Location:6211125
    DUF3498; Domain of unknown function (DUF3498)
    cl17171
    Location:96236
    PH-like; Pleckstrin homology-like domain
    cl23720
    Location:10311135
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
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