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    DAPP1 dual adaptor of phosphotyrosine and 3-phosphoinositides 1 [ Homo sapiens (human) ]

    Gene ID: 27071, updated on 2-Nov-2024

    Summary

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    Official Symbol
    DAPP1provided by HGNC
    Official Full Name
    dual adaptor of phosphotyrosine and 3-phosphoinositides 1provided by HGNC
    Primary source
    HGNC:HGNC:16500
    See related
    Ensembl:ENSG00000070190 MIM:605768; AllianceGenome:HGNC:16500
    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
    BAM32
    Summary
    Enables phosphatidylinositol-3,4,5-trisphosphate binding activity and phosphatidylinositol-3,4-bisphosphate binding activity. Predicted to be involved in signal transduction. Located in plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in lymph node (RPKM 16.8), appendix (RPKM 14.4) and 15 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DAPP1 in Genome Data Viewer
    Location:
    4q23
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (99816827..99872333)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (103132302..103187798)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (100737984..100791347)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:100484300-100485499 Neighboring gene microsomal triglyceride transfer protein Neighboring gene chromosome 4 open reading frame 54 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21741 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15583 Neighboring gene late endosomal/lysosomal adaptor, MAPK and MTOR activator 3 Neighboring gene DnaJ heat shock protein family (Hsp40) member B14 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21742 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15584

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. The B lymphocyte adaptor molecule of 32 kD (Bam32) regulates B cell antigen receptor signaling and cell survival. Niiro H, et al. J Exp Med, 2002 Jan 7. PMID 11781373, Free PMC Article
    2. Structural basis for discrimination of 3-phosphoinositides by pleckstrin homology domains. Ferguson KM, et al. Mol Cell, 2000 Aug. PMID 10983984
    3. The B lymphocyte adaptor molecule of 32 kilodaltons (Bam32) regulates B cell antigen receptor internalization. Niiro H, et al. J Immunol, 2004 Nov 1. PMID 15494510
    4. The adaptor protein Bam32 in human dendritic cells participates in the regulation of MHC class I-induced CD8+ T cell activation. Ortner D, et al. J Immunol, 2011 Oct 15. PMID 21930970
    5. DAPP1: a dual adaptor for phosphotyrosine and 3-phosphoinositides. Dowler S, et al. Biochem J, 1999 Aug 15. PMID 10432293, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. we propose a role for Bam32 in the signaling of MHC class I molecules in professional Ag-presenting DC for the regulation of CD8(+) T cell activation.
      Title: The adaptor protein Bam32 in human dendritic cells participates in the regulation of MHC class I-induced CD8+ T cell activation.
    2. BAM32 works downstream of Src family protein tyrosine kinases and functions to link B cell antigen receptor signals with antigen-processing pathways in B cells.
      Title: The B lymphocyte adaptor molecule of 32 kilodaltons (Bam32) regulates B cell antigen receptor internalization.
    3. novel phosphorylation-dependent function of Bam32 in regulating Rac1 activation and actin remodeling.
      Title: The adaptor protein Bam32 regulates Rac1 activation and actin remodeling through a phosphorylation-dependent mechanism.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp667E0716

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phosphatidylinositol-3,4,5-trisphosphate binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phosphatidylinositol-3,4-bisphosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylinositol-3,4-bisphosphate binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phospholipid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phospholipid binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in protein dephosphorylation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    dual adapter for phosphotyrosine and 3-phosphotyrosine and 3-phosphoinositide
    Names
    B-cell adapter molecule of 32 kDa
    b lymphocyte adapter protein Bam32
    hDAPP1

    NCBI Reference Sequences (RefSeq)

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    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_001306151.2 → NP_001293080.1  dual adapter for phosphotyrosine and 3-phosphotyrosine and 3-phosphoinositide isoform 2

      See identical proteins and their annotated locations for NP_001293080.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and uses an alternate exon that causes a frameshift in the 3' coding region compared to variant 1. It encodes isoform 2, which is shorter and has a novel C-terminus compared to isoform 1.
      Source sequence(s)
      AF186022, AP001962, BC012924, CA428013
      Consensus CDS
      CCDS77945.1
      UniProtKB/TrEMBL
      J3KNB3
      Related
      ENSP00000296414.7, ENST00000296414.11
      Conserved Domains (2) summary
      cd10355
      Location:28 → 119
      SH2_DAPP1_BAM32_like; Src homology 2 domain found in dual adaptor for phosphotyrosine and 3-phosphoinositides ( DAPP1)/B lymphocyte adaptor molecule of 32 kDa (Bam32)-like proteins
      cd10573
      Location:163 → 258
      PH_DAPP1; Dual Adaptor for Phosphotyrosine and 3-Phosphoinositides Pleckstrin homology (PH) domain

    2. NM_014395.3 → NP_055210.2  dual adapter for phosphotyrosine and 3-phosphotyrosine and 3-phosphoinositide isoform 1

      See identical proteins and their annotated locations for NP_055210.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AF163254, BC012924, BM968883, CA428013, DN995752
      Consensus CDS
      CCDS47112.1
      UniProtKB/Swiss-Prot
      Q8TCK5, Q9UHF2, Q9UN19
      Related
      ENSP00000423602.1, ENST00000512369.2
      Conserved Domains (2) summary
      cd10355
      Location:28 → 119
      SH2_DAPP1_BAM32_like; Src homology 2 domain found in dual adaptor for phosphotyrosine and 3-phosphoinositides ( DAPP1)/B lymphocyte adaptor molecule of 32 kDa (Bam32)-like proteins
      cd10573
      Location:163 → 258
      PH_DAPP1; Dual Adaptor for Phosphotyrosine and 3-Phosphoinositides Pleckstrin homology (PH) domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      99816827..99872333
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017008024.2 → XP_016863513.1  dual adapter for phosphotyrosine and 3-phosphotyrosine and 3-phosphoinositide isoform X2

      Conserved Domains (3) summary
      cd10355
      Location:28 → 119
      SH2_DAPP1_BAM32_like; Src homology 2 domain found in dual adaptor for phosphotyrosine and 3-phosphoinositides ( DAPP1)/B lymphocyte adaptor molecule of 32 kDa (Bam32)-like proteins
      pfam00169
      Location:166 → 231
      PH; PH domain
      cl17171
      Location:163 → 230
      PH-like; Pleckstrin homology-like domain

    2. XM_011531840.3 → XP_011530142.1  dual adapter for phosphotyrosine and 3-phosphotyrosine and 3-phosphoinositide isoform X1

      See identical proteins and their annotated locations for XP_011530142.1

      Conserved Domains (2) summary
      cd10355
      Location:28 → 119
      SH2_DAPP1_BAM32_like; Src homology 2 domain found in dual adaptor for phosphotyrosine and 3-phosphoinositides ( DAPP1)/B lymphocyte adaptor molecule of 32 kDa (Bam32)-like proteins
      cd10573
      Location:163 → 258
      PH_DAPP1; Dual Adaptor for Phosphotyrosine and 3-Phosphoinositides Pleckstrin homology (PH) domain

    3. XM_017008023.2 → XP_016863512.1  dual adapter for phosphotyrosine and 3-phosphotyrosine and 3-phosphoinositide isoform X2

      Conserved Domains (3) summary
      cd10355
      Location:28 → 119
      SH2_DAPP1_BAM32_like; Src homology 2 domain found in dual adaptor for phosphotyrosine and 3-phosphoinositides ( DAPP1)/B lymphocyte adaptor molecule of 32 kDa (Bam32)-like proteins
      pfam00169
      Location:166 → 231
      PH; PH domain
      cl17171
      Location:163 → 230
      PH-like; Pleckstrin homology-like domain

    4. XM_011531843.4 → XP_011530145.1  dual adapter for phosphotyrosine and 3-phosphotyrosine and 3-phosphoinositide isoform X3

      Conserved Domains (2) summary
      cd10573
      Location:41 → 136
      PH_DAPP1; Dual Adaptor for Phosphotyrosine and 3-Phosphoinositides Pleckstrin homology (PH) domain
      pfam00169
      Location:44 → 133
      PH; PH domain

    RNA

    1. XR_007096391.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      103132302..103187798
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349680.1 → XP_054205655.1  dual adapter for phosphotyrosine and 3-phosphotyrosine and 3-phosphoinositide isoform X1

    2. XM_054349681.1 → XP_054205656.1  dual adapter for phosphotyrosine and 3-phosphotyrosine and 3-phosphoinositide isoform X2

    3. XM_054349682.1 → XP_054205657.1  dual adapter for phosphotyrosine and 3-phosphotyrosine and 3-phosphoinositide isoform X2

    4. XM_054349683.1 → XP_054205658.1  dual adapter for phosphotyrosine and 3-phosphotyrosine and 3-phosphoinositide isoform X3

    RNA

    1. XR_008486964.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UN19.1 GenPept UniProtKB/Swiss-Prot:Q9UN19

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