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

    Gene ID: 55616, updated on 17-Jun-2024

    Summary

    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
    NEW
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    Genomic context

    See ASAP3 in Genome Data Viewer
    Location:
    1p36.12
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (23428563..23484631, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (23263051..23319108, complement)
    105.20220307 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

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    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_001143778.2NP_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:35234
      BAR_ASAP3; The Bin/Amphiphysin/Rvs (BAR) domain of ArfGAP with SH3 domain, ANK repeat and PH domain containing protein 3
      cd00204
      Location:581665
      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:285391
      PH_ASAP; ArfGAP with SH3 domain, ankyrin repeat and PH domain Pleckstrin homology (PH) domain
      pfam00169
      Location:298381
      PH; PH domain
      pfam01412
      Location:419534
      ArfGap; Putative GTPase activating protein for Arf
      pfam13857
      Location:599653
      Ank_5; Ankyrin repeats (many copies)
      sd00045
      Location:542575
      ANK; ANK repeat [structural motif]
    2. NM_017707.4NP_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:35243
      BAR_ASAP3; The Bin/Amphiphysin/Rvs (BAR) domain of ArfGAP with SH3 domain, ANK repeat and PH domain containing protein 3
      cd00204
      Location:590674
      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:294400
      PH_ASAP; ArfGAP with SH3 domain, ankyrin repeat and PH domain Pleckstrin homology (PH) domain
      pfam00169
      Location:307390
      PH; PH domain
      pfam01412
      Location:428543
      ArfGap; Putative GTPase activating protein for Arf
      pfam13857
      Location:608662
      Ank_5; Ankyrin repeats (many copies)
      sd00045
      Location:551584
      ANK; ANK repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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_017001687.1XP_016857176.1  arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform X4

    2. XM_047424481.1XP_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_017001688.3XP_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:459543
      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:163269
      PH_ASAP; ArfGAP with SH3 domain, ankyrin repeat and PH domain Pleckstrin homology (PH) domain
      pfam00169
      Location:176259
      PH; PH domain
      pfam01412
      Location:297412
      ArfGap; Putative GTPase activating protein for Arf
      pfam13857
      Location:477531
      Ank_5; Ankyrin repeats (many copies)
      sd00045
      Location:420453
      ANK; ANK repeat [structural motif]
      cl12013
      Location:1112
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    4. XM_017001689.2XP_016857178.1  arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform X6

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

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

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

      Conserved Domains (7) summary
      cd07640
      Location:35243
      BAR_ASAP3; The Bin/Amphiphysin/Rvs (BAR) domain of ArfGAP with SH3 domain, ANK repeat and PH domain containing protein 3
      cd00204
      Location:592676
      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:296402
      PH_ASAP; ArfGAP with SH3 domain, ankyrin repeat and PH domain Pleckstrin homology (PH) domain
      pfam00169
      Location:309392
      PH; PH domain
      pfam01412
      Location:430545
      ArfGap; Putative GTPase activating protein for Arf
      pfam13857
      Location:610664
      Ank_5; Ankyrin repeats (many copies)
      sd00045
      Location:553586
      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_054331922.1XP_054187897.1  arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform X4

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

      UniProtKB/TrEMBL
      A0AAA9YHE6
    3. XM_054331923.1XP_054187898.1  arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform X5

      UniProtKB/TrEMBL
      B4DRP2
    4. XM_054331924.1XP_054187899.1  arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform X6

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

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

    7. XM_054331919.1XP_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_054337532.1XP_054193507.1  arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform X4

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

      UniProtKB/TrEMBL
      A0AAA9YHE6
    3. XM_054337533.1XP_054193508.1  arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform X5

      UniProtKB/TrEMBL
      B4DRP2
    4. XM_054337534.1XP_054193509.1  arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform X6

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

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

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