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    ACAP1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 [ Homo sapiens (human) ]

    Gene ID: 9744, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ACAP1provided by HGNC
    Official Full Name
    ArfGAP with coiled-coil, ankyrin repeat and PH domains 1provided by HGNC
    Primary source
    HGNC:HGNC:16467
    See related
    Ensembl:ENSG00000072818 MIM:607763; AllianceGenome:HGNC:16467
    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
    CENTB1
    Summary
    Predicted to enable GTPase activator activity and metal ion binding activity. Predicted to be involved in protein transport. Located in membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in lymph node (RPKM 20.4), spleen (RPKM 16.9) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ACAP1 in Genome Data Viewer
    Location:
    17p13.1
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (7336529..7351477)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (7240514..7255462)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (7239848..7254796)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11611 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8107 Neighboring gene G protein pathway suppressor 2 Neighboring gene neuralized E3 ubiquitin protein ligase 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7226660-7227166 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7227167-7227672 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:7231927-7232586 Neighboring gene Sharpr-MPRA regulatory region 1992 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11614 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11615 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7239291-7240052 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7240053-7240814 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11616 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11617 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8110 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8111 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8112 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8113 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7258016-7258542 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7258543-7259069 Neighboring gene potassium channel tetramerization domain containing 11 Neighboring gene transmembrane protein 95

    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. Mechanistic insights into regulated cargo binding by ACAP1 protein. Bai M, et al. J Biol Chem, 2012 Aug 17. PMID 22645133, Free PMC Article
    2. Expression of ACAP1 Is Associated with Tumor Immune Infiltration and Clinical Outcome of Ovarian Cancer. Zhang J, et al. DNA Cell Biol, 2020 Sep. PMID 32456571
    3. Gene and protein expression of centaurin beta 1 (CENTB1) are up-regulated in patients with ulcerative colitis. Yamamoto-Furusho JK, et al. J Crohns Colitis, 2013 Jul. PMID 23317930
    4. ACAP1 assembles into an unusual protein lattice for membrane deformation through multiple stages. Chan C, et al. PLoS Comput Biol, 2019 Jul. PMID 31291238, Free PMC Article
    5. An ACAP1-containing clathrin coat complex for endocytic recycling. Li J, et al. J Cell Biol, 2007 Jul 30. PMID 17664335, Free PMC Article

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Expression of ACAP1 Is Associated with Tumor Immune Infiltration and Clinical Outcome of Ovarian Cancer.
      Title: Expression of ACAP1 Is Associated with Tumor Immune Infiltration and Clinical Outcome of Ovarian Cancer.
    2. As ACAP1 is an unconventional BAR protein, our findings broaden the understanding of the mechanistic spectrum by which proteins assemble into higher-ordered structures to achieve membrane deformation
      Title: ACAP1 assembles into an unusual protein lattice for membrane deformation through multiple stages.
    3. The serum lever of Alzheimer's disease were decrease and the expression of ACAP1 strongly correlated with the Mini-Mental State Examination scores of the AD patients
      Title: Translational study of Alzheimer's disease (AD) biomarkers from brain tissues in AβPP/PS1 mice and serum of AD patients.
    4. ACAP1 and ARAP2 each colocalize with Arf6 but they did not colocalize with each other and have opposing effects on focal adhesions.
      Title: The Arf6 GTPase-activating proteins ARAP2 and ACAP1 define distinct endosomal compartments that regulate integrin α5β1 traffic.
    5. CENTB1 was up-regulated in patients with active UC as compared to UC remission and healthy control groups suggesting that it is involved in the inflammatory process.
      Title: Gene and protein expression of centaurin beta 1 (CENTB1) are up-regulated in patients with ulcerative colitis.
    6. phosphorylation of ACAP1 relieves a localized mechanism of autoinhibition in regulating cargo binding
      Title: Mechanistic insights into regulated cargo binding by ACAP1 protein.
    7. the oncogenic potential of USP6 is linked to its ability to integrate cell migration and cytokinesis by regulating Arf6/ACAP1.
      Title: The oncogenic TBC domain protein USP6/TRE17 regulates cell migration and cytokinesis.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
    9. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    10. ACAP1 has robust, constitutive Arf6 GAP activity in vivo, with little activity toward Arf1.
      Title: Substrate specificities and activities of AZAP family Arf GAPs in vivo.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    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

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef Genome-wide shRNA screening identifies CENTB1/ACAP1, which is required for HIV-1 Nef-induced downregulation of CD4 in HeLa CD4+ cells PubMed

    Go to the HIV-1, Human Interaction Database

    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

    • KIAA0050

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane HDA PubMed 
    located_in recycling endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1
    Names
    Arf GAP with coiled coil, ANK repeat and PH domains 1
    centaurin-beta-1
    cnt-b1

    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_014716.4 → NP_055531.1  arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1

      See identical proteins and their annotated locations for NP_055531.1

      Status: VALIDATED

      Source sequence(s)
      AA356620, AC026954, BC018543
      Consensus CDS
      CCDS11101.1
      UniProtKB/Swiss-Prot
      Q15027, Q53XN9
      Related
      ENSP00000158762.3, ENST00000158762.8
      Conserved Domains (7) summary
      cd00204
      Location:592 → 692
      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 ...
      cd13250
      Location:268 → 364
      PH_ACAP; ArfGAP with coiled-coil, ankyrin repeat and PH domains Pleckstrin homology (PH) domain
      pfam00169
      Location:266 → 360
      PH; PH domain
      pfam01412
      Location:406 → 519
      ArfGap; Putative GTPase activating protein for Arf
      pfam13857
      Location:626 → 680
      Ank_5; Ankyrin repeats (many copies)
      sd00045
      Location:606 → 637
      ANK; ANK repeat [structural motif]
      cl12013
      Location:18 → 217
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      7336529..7351477
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047437150.1 → XP_047293106.1  arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1 isoform X1

    2. XM_047437151.1 → XP_047293107.1  arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1 isoform X1

    3. XM_047437152.1 → XP_047293108.1  arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1 isoform X2

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_021160020.1 Reference GRCh38.p14 PATCHES

      Range
      94894..109842
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332661.1 → XP_054188636.1  arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1 isoform X1

    2. XM_054332662.1 → XP_054188637.1  arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1 isoform X1

    3. XM_054332663.1 → XP_054188638.1  arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      7240514..7255462
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317969.1 → XP_054173944.1  arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1 isoform X1

    2. XM_054317970.1 → XP_054173945.1  arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1 isoform X1

    3. XM_054317971.1 → XP_054173946.1  arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15027.1 GenPept UniProtKB/Swiss-Prot:Q15027

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