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    ASAP3 ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 [ Homo sapiens (human) ]

    Gene ID: 55616, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ASAP3provided by HGNC
    Official Full Name
    ArfGAP with SH3 domain, ankyrin repeat and PH domain 3provided by HGNC
    Primary source
    HGNC:HGNC:14987
    See related
    Ensembl:ENSG00000088280 MIM:616594; AllianceGenome:HGNC:14987
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ACAP4; UPLC1; CENTB6; DDEFL1
    Summary
    This gene encodes a member of a subfamily of ADP-ribosylation factor(Arf) GTPase-activating proteins that contain additional ankyrin repeat and pleckstrin homology domains. The Arf GAP domain of this protein catalyzes the hydrolysis of GTP bound to Arf proteins. The encoded protein promotes cell differentiation and migration and has been implicated in cancer cell invasion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]
    Expression
    Ubiquitous expression in ovary (RPKM 21.1), skin (RPKM 19.0) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ASAP3 in Genome Data Viewer
    Location:
    1p36.12
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (23428563..23484631, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (23263051..23319108, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (23755056..23810672, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 361 Neighboring gene NANOG hESC enhancer GRCh37_chr1:23697210-23697795 Neighboring gene ZNF436 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 9848 Neighboring gene zinc finger protein 436 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 362 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:23709609-23709825 Neighboring gene transcription elongation factor A3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 363 Neighboring gene NANOG hESC enhancer GRCh37_chr1:23745635-23746193 Neighboring gene uncharacterized LOC124903875 Neighboring gene Sharpr-MPRA regulatory region 12987 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:23800831-23801332 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:23801333-23801832 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 412 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 413 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 364 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 414 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:23829854-23830688 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:23830689-23831522 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:23847293-23848492 Neighboring gene uncharacterized LOC101928163 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:23854779-23854975 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 365 Neighboring gene E2F transcription factor 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:23857131-23857279 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 415 Neighboring gene Sharpr-MPRA regulatory region 6048 Neighboring gene uncharacterized LOC124903876 Neighboring gene Sharpr-MPRA regulatory region 7496 Neighboring gene uncharacterized LOC105376859 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:23875384-23875934 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 416

    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. Isolation of development and differentiation enhancing factor-like 1 (DDEFL1) as a drug target for hepatocellular carcinomas. Okabe H, et al. Int J Oncol, 2004 Jan. PMID 14654939
    2. Phosphorylation of the Bin, Amphiphysin, and RSV161/167 (BAR) domain of ACAP4 regulates membrane tubulation. Zhao X, et al. Proc Natl Acad Sci U S A, 2013 Jul 2. PMID 23776207, Free PMC Article
    3. ASAP3 expression in non-small cell lung cancer: association with cancer development and patients' clinical outcome. Fan C, et al. Tumour Biol, 2014 Feb. PMID 24078447
    4. The structure of an Arf-ArfGAP complex reveals a Ca2+ regulatory mechanism. Ismail SA, et al. Cell, 2010 May 28. PMID 20510928
    5. Acetylation of ACAP4 regulates CCL18-elicited breast cancer cell migration and invasion. Song X, et al. J Mol Cell Biol, 2018 Dec 1. PMID 30395269, Free PMC Article

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ACAP4 physically interacts with CrkII. Functional characterization showed that the interaction is required for the recruitment of ACAP4 to the plasma membrane where ACAP4 functions to regulate the recycling of the signal transducer integrin beta1.
      Title: ACAP4 interacts with CrkII to promote the recycling of integrin β1.
    2. ARF6 GTPase-activating protein ACAP4 regulates CCL18-elicited breast cancer cell migration via the acetyltransferase PCAF-mediated acetylation. CCL18 stimulation elicited breast cancer cell migration and invasion via PCAF-dependent acetylation.
      Title: Acetylation of ACAP4 regulates CCL18-elicited breast cancer cell migration and invasion.
    3. MiR-143-3p acts as an anti-oncogene by downregulating ITGA6/ASAP3 protein expression and could offer new insight into potential therapeutic targets for CRC.
      Title: MicroRNA-143-3p inhibits colorectal cancer metastases by targeting ITGA6 and ASAP3.
    4. Results show that ASAP3 was amplified in colorectal cancer (CRC) tissues, and its upregulation was associated with poor prognosis of patients with CRC. Also, it promoted growth of colon tumors, and accelerated cell invasion and migration through its binding to NEMO. These results suggest that ASAP3 acts as an oncogene.
      Title: Upregulation of ASAP3 contributes to colorectal carcinogenesis and indicates poor survival outcome.
    5. The data, for the first time, link ASAP3 with ACTG1 in the regulation of cytoskeletal maintenance and cell motility
      Title: Loss of ASAP3 destabilizes cytoskeletal protein ACTG1 to suppress cancer cell migration.
    6. ). These data indicate that ASAP3 is elevated in NSCLC and may contribute to cancer development and patients' poor clinical outcome, which is possibly due to its critical roles in regulating cancer invasion.
      Title: ASAP3 expression in non-small cell lung cancer: association with cancer development and patients' clinical outcome.
    7. Phosphorylation of the N-terminal region of ACAP4 (named the Bin, Amphiphysin, and RSV161/167[BAR] domain at Tyr34) is necessary for epidermal growth factor (EGF)-elicited membrane remodeling.
      Title: Phosphorylation of the Bin, Amphiphysin, and RSV161/167 (BAR) domain of ACAP4 regulates membrane tubulation.
    8. ACAP4 protein cooperates with Grb2 protein to orchestrate epidermal growth factor-stimulated integrin beta1 recycling in cell migration
      Title: ACAP4 protein cooperates with Grb2 protein to orchestrate epidermal growth factor-stimulated integrin β1 recycling in cell migration.
    9. The ArfGAP catalytic mechanism and shows a glutamine from Arf6 and an arginine fingerASAP3 as the important catalytic residues; unexpectedly the structure shows a calcium ion, liganded by both proteins in the complex interface.
      Title: The structure of an Arf-ArfGAP complex reveals a Ca2+ regulatory mechanism.
    10. ASAP3 functions nonredundantly with ASAP1 to control cell movement and may have a role in cancer cell invasion.
      Title: ASAP3 is a focal adhesion-associated Arf GAP that functions in cell migration and invasion.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    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

    EBI GWAS Catalog

    Description
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog

    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

    • FLJ20199

    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 metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of GTPase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of stress fiber assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of stress fiber assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in focal adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in focal adhesion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in ruffle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in ruffle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3
    Names
    ARF6 GTPase-activating protein
    ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 1
    centaurin, beta 6
    development and differentiation enhancing factor-like 1
    protein up-regulated in liver cancer 1
    up-regulated in liver cancer 1 (UPLC1)

    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_001143778.2 → NP_001137250.1  arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform b

      See identical proteins and their annotated locations for NP_001137250.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the coding region and uses an alternate in-frame splice site compared to variant 1. The resulting protein (isoform b) is shorter compared to isoform a.
      Source sequence(s)
      AK000206, AK295100, AL021154, AL357134
      Consensus CDS
      CCDS44087.1
      UniProtKB/Swiss-Prot
      Q8TDY4
      Related
      ENSP00000408826.2, ENST00000437606.6
      Conserved Domains (7) summary
      cd07640
      Location:35 → 234
      BAR_ASAP3; The Bin/Amphiphysin/Rvs (BAR) domain of ArfGAP with SH3 domain, ANK repeat and PH domain containing protein 3
      cd00204
      Location:581 → 665
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd13251
      Location:285 → 391
      PH_ASAP; ArfGAP with SH3 domain, ankyrin repeat and PH domain Pleckstrin homology (PH) domain
      pfam00169
      Location:298 → 381
      PH; PH domain
      pfam01412
      Location:419 → 534
      ArfGap; Putative GTPase activating protein for Arf
      pfam13857
      Location:599 → 653
      Ank_5; Ankyrin repeats (many copies)
      sd00045
      Location:542 → 575
      ANK; ANK repeat [structural motif]

    2. NM_017707.4 → NP_060177.2  arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform a

      See identical proteins and their annotated locations for NP_060177.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AB056749, AK000206, AL021154, AL357134
      Consensus CDS
      CCDS235.1
      UniProtKB/Swiss-Prot
      B3KRW0, B4DHH4, Q6P9F4, Q86UY1, Q8TDY4, Q9NXK2
      Related
      ENSP00000338769.3, ENST00000336689.8
      Conserved Domains (7) summary
      cd07640
      Location:35 → 243
      BAR_ASAP3; The Bin/Amphiphysin/Rvs (BAR) domain of ArfGAP with SH3 domain, ANK repeat and PH domain containing protein 3
      cd00204
      Location:590 → 674
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd13251
      Location:294 → 400
      PH_ASAP; ArfGAP with SH3 domain, ankyrin repeat and PH domain Pleckstrin homology (PH) domain
      pfam00169
      Location:307 → 390
      PH; PH domain
      pfam01412
      Location:428 → 543
      ArfGap; Putative GTPase activating protein for Arf
      pfam13857
      Location:608 → 662
      Ank_5; Ankyrin repeats (many copies)
      sd00045
      Location:551 → 584
      ANK; ANK repeat [structural motif]

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      23428563..23484631 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017001687.1 → XP_016857176.1  arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform X4

    2. XM_047424481.1 → XP_047280437.1  arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform X7

      UniProtKB/TrEMBL
      A0AAA9YHE6
      Related
      ENSP00000518744.1, ENST00000711427.1

    3. XM_017001688.3 → XP_016857177.1  arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform X5

      UniProtKB/TrEMBL
      B4DRP2
      Conserved Domains (7) summary
      cd00204
      Location:459 → 543
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd13251
      Location:163 → 269
      PH_ASAP; ArfGAP with SH3 domain, ankyrin repeat and PH domain Pleckstrin homology (PH) domain
      pfam00169
      Location:176 → 259
      PH; PH domain
      pfam01412
      Location:297 → 412
      ArfGap; Putative GTPase activating protein for Arf
      pfam13857
      Location:477 → 531
      Ank_5; Ankyrin repeats (many copies)
      sd00045
      Location:420 → 453
      ANK; ANK repeat [structural motif]
      cl12013
      Location:1 → 112
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    4. XM_017001689.2 → XP_016857178.1  arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform X6

    5. XM_017001685.3 → XP_016857174.1  arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform X2

    6. XM_017001686.3 → XP_016857175.1  arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform X3

    7. XM_011541755.3 → XP_011540057.1  arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform X1

      Conserved Domains (7) summary
      cd07640
      Location:35 → 243
      BAR_ASAP3; The Bin/Amphiphysin/Rvs (BAR) domain of ArfGAP with SH3 domain, ANK repeat and PH domain containing protein 3
      cd00204
      Location:592 → 676
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd13251
      Location:296 → 402
      PH_ASAP; ArfGAP with SH3 domain, ankyrin repeat and PH domain Pleckstrin homology (PH) domain
      pfam00169
      Location:309 → 392
      PH; PH domain
      pfam01412
      Location:430 → 545
      ArfGap; Putative GTPase activating protein for Arf
      pfam13857
      Location:610 → 664
      Ank_5; Ankyrin repeats (many copies)
      sd00045
      Location:553 → 586
      ANK; ANK repeat [structural motif]

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_014040926.1 Reference GRCh38.p14 PATCHES

      Range
      198542..254610 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331922.1 → XP_054187897.1  arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform X4

    2. XM_054331925.1 → XP_054187900.1  arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform X7

      UniProtKB/TrEMBL
      A0AAA9YHE6

    3. XM_054331923.1 → XP_054187898.1  arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform X5

      UniProtKB/TrEMBL
      B4DRP2

    4. XM_054331924.1 → XP_054187899.1  arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform X6

    5. XM_054331920.1 → XP_054187895.1  arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform X2

    6. XM_054331921.1 → XP_054187896.1  arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform X3

    7. XM_054331919.1 → XP_054187894.1  arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      23263051..23319108 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337532.1 → XP_054193507.1  arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform X4

    2. XM_054337535.1 → XP_054193510.1  arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform X7

      UniProtKB/TrEMBL
      A0AAA9YHE6

    3. XM_054337533.1 → XP_054193508.1  arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform X5

      UniProtKB/TrEMBL
      B4DRP2

    4. XM_054337534.1 → XP_054193509.1  arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform X6

    5. XM_054337530.1 → XP_054193505.1  arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform X2

    6. XM_054337531.1 → XP_054193506.1  arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform X3

    7. XM_054337529.1 → XP_054193504.1  arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TDY4.1 GenPept UniProtKB/Swiss-Prot:Q8TDY4

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