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DAB2IP DAB2 interacting protein [ Homo sapiens (human) ]

Gene ID: 153090, updated on 30-Oct-2022

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; AllianceGenome:HGNC:17294
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See DAB2IP in Genome Data Viewer
Location:
9q33.2
Exon count:
18
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (121567074..121785530)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (133763089..133981519)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (124329353..124547809)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107987016 Neighboring gene high mobility group box 1 pseudogene 37 Neighboring gene Sharpr-MPRA regulatory region 14365 Neighboring gene uncharacterized LOC105376257 Neighboring gene Sharpr-MPRA regulatory region 3775 Neighboring gene uncharacterized LOC107987125 Neighboring gene tubulin tyrosine ligase like 11 Neighboring gene uncharacterized LOC124902262

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Pathways from PubChem

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

NEW Try the new Transcript table

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_001395010.1NP_001381939.1  disabled homolog 2-interacting protein isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL365274
    Consensus CDS
    CCDS94477.1
    UniProtKB/Swiss-Prot
    Q9C0C0
    Related
    ENSP00000386183.3, ENST00000408936.8
    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
    cd13376
    Location:75261
    PH_DAB2IP; DOC-2/Disabled homolog 2-interacting protein Pleckstrin homology (PH) domain
    pfam12004
    Location:6461150
    DUF3498; Domain of unknown function (DUF3498)
  2. NM_032552.4NP_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, AL357936, BC037314, BM545676, BM546615
    Consensus CDS
    CCDS6833.2
    UniProtKB/Swiss-Prot
    Q5VWQ8
    Related
    ENSP00000259371.2, ENST00000259371.7
    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)
  3. 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, ENST00000309989.1
    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 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    121567074..121785530
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    133763089..133981519
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)