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

Gene ID: 11033, updated on 2-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
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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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Related articles in PubMed

  1. Altered expression of protein p42IP4/centaurin-alpha 1 in Alzheimer's disease brains and possible interaction of p42IP4 with nucleolin. Reiser G, et al. Neuroreport, 2004 Jan 19. PMID 15106847
  2. 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. Stricker R, et al. Biol Chem, 2014 Nov 1. PMID 24854535
  3. Centaurin-alpha 1, an ADP-ribosylation factor 6 GTPase activating protein, inhibits beta 2-adrenoceptor internalization. Lawrence J, et al. Mol Pharmacol, 2005 Jun. PMID 15778454
  4. A mass spectrometry based predictive strategy reveals ADAP1 is phosphorylated at tyrosine 364. Reisdorph R, et al. Rapid Commun Mass Spectrom, 2018 Aug 15. PMID 29659066
  5. Cellular expression and subcellular localization of the human Ins(1,3,4,5)P(4)-binding protein, p42(IP4), in human brain and in neuronal cells. Sedehizade F, et al. Brain Res Mol Brain Res, 2002 Feb 28. PMID 11869802

See all (50) citations in PubMed

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)

Genotypes

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 positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
  
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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