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    ADAP1 ArfGAP with dual PH domains 1 [ Homo sapiens (human) ]

    Gene ID: 11033, updated on 14-Nov-2024

    Summary

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    Official Symbol
    ADAP1provided by HGNC
    Official Full Name
    ArfGAP with dual PH domains 1provided by HGNC
    Primary source
    HGNC:HGNC:16486
    See related
    Ensembl:ENSG00000105963 MIM:608114; AllianceGenome:HGNC:16486
    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
    GCS1L; CENTA1; p42IP4
    Summary
    Enables GTPase activator activity. Predicted to be involved in cell surface receptor signaling pathway. Located in cytosol; nucleus; and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in brain (RPKM 18.4), colon (RPKM 17.8) and 18 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ADAP1 in Genome Data Viewer
    Location:
    7p22.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (897900..955407, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (1001683..1060405, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (937537..995043, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene Sad1 and UNC84 domain containing 1 Neighboring gene uncharacterized LOC124901568 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17822 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17823 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17824 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25476 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:923699-924455 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:925261-925974 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:925975-926688 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_100798 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:932665-932864 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:938411-938998 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:938999-939585 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17825 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25477 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:947339-948037 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17826 Neighboring gene guided entry of tail-anchored proteins factor 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25478 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25479 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25480 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17827 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:967671-968257 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25481 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17828 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:984861-986060 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:988546-989191 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:989192-989836 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:992766-993377 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17829 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17830 Neighboring gene uncharacterized LOC124901569 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:994600-995209 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17832 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1002516-1003103 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25482 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1006706-1007206 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1007207-1007707 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1014408-1015290 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1015291-1016171 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17835 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1028403-1029003 Neighboring gene cytochrome c oxidase assembly factor COX19 Neighboring gene chromosome 7 open reading frame 50 Neighboring gene cytochrome P450 family 2 subfamily W member 1

    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 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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Arf GTPase-Activating proteins ADAP1 and ARAP1 regulate incorporation of CD63 in multivesicular bodies.
      Title: Arf GTPase-Activating proteins ADAP1 and ARAP1 regulate incorporation of CD63 in multivesicular bodies.
    2. Genetic architecture of the inflammatory bowel diseases across East Asian and European ancestries.
      Title: Genetic architecture of the inflammatory bowel diseases across East Asian and European ancestries.
    3. Oncogenic fusion transcript analysis identified ADAP1-NOC4L, potentially associated with metastatic colorectal cancer.
      Title: Oncogenic fusion transcript analysis identified ADAP1-NOC4L, potentially associated with metastatic colorectal cancer.
    4. ADAP1 promotes latent HIV-1 reactivation by selectively tuning KRAS-ERK-AP-1 T cell signaling-transcriptional axis.
      Title: ADAP1 promotes latent HIV-1 reactivation by selectively tuning KRAS-ERK-AP-1 T cell signaling-transcriptional axis.
    5. In vitro reconstitution reveals phosphoinositides as cargo-release factors and activators of the ARF6 GAP ADAP1.
      Title: In vitro reconstitution reveals phosphoinositides as cargo-release factors and activators of the ARF6 GAP ADAP1.
    6. Adap1 deletion in tumor cells ameliorated the basement membrane breakdown and had less invading cells in the stroma. Study demonstrates that ADAP1 is a critical mediator of TGF-beta-induced cancer invasion.
      Title: ADAP1 promotes invasive squamous cell carcinoma progression and predicts patient survival.
    7. Analyzed ArfGAP with dual PH domains 1 (ADAP1) using mass spectrometry and found that ADAP1 is phosphorylated at Y364.
      Title: A mass spectrometry based predictive strategy reveals ADAP1 is phosphorylated at tyrosine 364.
    8. This review highlights the functions of the neuron-specific protein ADAP1 in neuronal differentiation and neurodegenerative diseases, with an overview of structural and biochemical properties of ADAP1. [review]
      Title: Functions of the neuron-specific protein ADAP1 (centaurin-α1) in neuronal differentiation and neurodegenerative diseases, with an overview of structural and biochemical properties of ADAP1.
    9. SH-SY5Y cells, stably transfected with GFP-tagged-p42(IP4), show an enhanced NRD protein expression already at an earlier time point after retinoic acid stimulation.
      Title: Retinoic acid-induced upregulation of the metalloendopeptidase nardilysin is accelerated by co-expression of the brain-specific protein p42(IP4) (centaurin α 1; ADAP1) in neuroblastoma cells.
    10. Tubulin potentiates the interaction of the metalloendopeptidase nardilysin with the neuronal scaffold protein p42IP4/centaurin-alpha1 (ADAP1).
      Title: Tubulin potentiates the interaction of the metalloendopeptidase nardilysin with the neuronal scaffold protein p42IP4/centaurin-α1 (ADAP1).
    Submit: New GeneRIF Correction See all GeneRIFs (24)

    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

    Potential readthrough

    Included gene: COX19

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables inositol 1,3,4,5 tetrakisphosphate binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatidylinositol bisphosphate binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatidylinositol-3,4,5-trisphosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell surface receptor signaling pathway TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of GTPase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 

    General protein information

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    Preferred Names
    arf-GAP with dual PH domain-containing protein 1
    Names
    centaurin-alpha
    centaurin-alpha-1
    cnt-a1
    putative MAPK-activating protein PM25

    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_001284308.2 → NP_001271237.2  arf-GAP with dual PH domain-containing protein 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' terminal exon and initiates translation from an alternate upstream start codon compared to variant 1. The resulting longer isoform (2) has a distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC073957
      Consensus CDS
      CCDS64577.1
      Related
      ENSP00000442682.1, ENST00000539900.5

    2. NM_001284309.2 → NP_001271238.2  arf-GAP with dual PH domain-containing protein 1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains an alternate 5' terminal exon and initiates translation from an in-frame downstream start codon compared to variant 1. The resulting isoform (3) has a shorter N-terminus compared to isoform 1. Variants 3 and 4 encode the same isoform.
      Source sequence(s)
      AC073957
      Consensus CDS
      CCDS64576.1
      UniProtKB/TrEMBL
      B4DUZ7
      Related
      ENSP00000481154.1, ENST00000611167.4
      Conserved Domains (3) summary
      cd01251
      Location:180 → 285
      PH2_ADAP; ArfGAP with dual PH domains Pleckstrin homology (PH) domain, repeat 2
      cd13252
      Location:58 → 166
      PH1_ADAP; ArfGAP with dual PH domains Pleckstrin homology (PH) domain, repeat 1
      cl28907
      Location:1 → 41
      ArfGap; GTPase-activating protein (GAP) for the ADP ribosylation factors (ARFs)

    3. NM_001284310.2 → NP_001271239.2  arf-GAP with dual PH domain-containing protein 1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an exon at the 5' end and contains an alternate 5' terminal exon, which results in translation initiation from an in-frame downstream start codon compared to variant 1. The resulting isoform (3) has a shorter N-terminus compared to isoform 1. Variants 3 and 4 encode the same isoform.
      Source sequence(s)
      AC073957
      Consensus CDS
      CCDS64576.1
      Related
      ENSP00000407267.2, ENST00000449296.6

    4. NM_001284311.2 → NP_001271240.2  arf-GAP with dual PH domain-containing protein 1 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks 2 exons at the 5' end and contains an alternate 5' terminal exon, which results in translation initiation from an alternate start codon compared to variant 1. The resulting shorter isoform (4) has a distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC073957
      Consensus CDS
      CCDS75558.1
      UniProtKB/TrEMBL
      A0A087WTN6, B4DUZ7
      Related
      ENSP00000478011.1, ENST00000617043.4
      Conserved Domains (3) summary
      cd01251
      Location:157 → 262
      PH2_ADAP; ArfGAP with dual PH domains Pleckstrin homology (PH) domain, repeat 2
      cd13252
      Location:35 → 143
      PH1_ADAP; ArfGAP with dual PH domains Pleckstrin homology (PH) domain, repeat 1
      cl29885
      Location:8 → 31
      ArfGap; Putative GTPase activating protein for Arf

    5. NM_006869.4 → NP_006860.2  arf-GAP with dual PH domain-containing protein 1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript and encodes isoform 1.
      Source sequence(s)
      AC073957
      Consensus CDS
      CCDS5318.1
      UniProtKB/Swiss-Prot
      A4D2Q2, B3KRZ4, B4DVA6, F6XZ68, H7C2Q4, O75689
      UniProtKB/TrEMBL
      A0A3B3ISA7
      Related
      ENSP00000265846.5, ENST00000265846.10
      Conserved Domains (3) summary
      smart00105
      Location:10 → 126
      ArfGap; Putative GTP-ase activating proteins for the small GTPase, ARF
      cd01251
      Location:252 → 357
      PH2_ADAP; ArfGAP with dual PH domains Pleckstrin homology (PH) domain, repeat 2
      cd13252
      Location:130 → 238
      PH1_ADAP; ArfGAP with dual PH domains Pleckstrin homology (PH) domain, repeat 1

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      897900..955407 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      1001683..1060405 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75689.2 GenPept UniProtKB/Swiss-Prot:O75689

    Gene LinkOut

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