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ACAP1 Gene

protein-coding   GIFtS: 62
GCID: GC17P007239

ArfGAP With Coiled-Coil, Ankyrin Repeat And PH Domains 1

(Previous names: centaurin, beta 1)
(Previous symbol: CENTB1)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ArfGAP With Coiled-Coil, Ankyrin Repeat And PH Domains 11 2     Arf-GAP With Coiled-Coil, ANK Repeat And PH Domain-Containing Protein 12
CENTB11 2 3 5     centaurin-beta-12
Centaurin, Beta 11 2     cnt-b12
KIAA00503 5     Centaurin-beta-13
Arf GAP With Coiled Coil, ANK Repeat And PH Domains 12     Cnt-b13

External Ids:    HGNC: 164671   Entrez Gene: 97442   Ensembl: ENSG000000728187   OMIM: 6077635   UniProtKB: Q150273   

Export aliases for ACAP1 gene to outside databases

Previous GC identifers: GC17P007181 GC17P007133


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ACAP1 Gene:
ACAP1 (ArfGAP with coiled-coil, ankyrin repeat and PH domains 1) is a protein-coding gene. GO annotations related to this gene include phospholipid binding and ARF GTPase activator activity. An important paralog of this gene is AGAP5.

UniProtKB/Swiss-Prot: ACAP1_HUMAN, Q15027
Function: GTPase-activating protein (GAP) for ADP ribosylation factor 6 (ARF6) required for clathrin-dependent
export of proteins from recycling endosomes to trans-Golgi network and cell surface. Required for regulated
export of ITGB1 from recycling endosomes to the cell surface and ITGB1-dependent cell migration

Gene Wiki entry for ACAP1 (CENTB1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NT_010718.17  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ACAP1 gene promoter:
         COUP-TF1   COUP-TF   AP-1   ATF-2   COUP   c-Jun   HNF-4alpha2   HNF-4alpha1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidACAP1 promoter sequence
   Search Chromatin IP Primers for ACAP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ACAP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p13.1   Ensembl cytogenetic band:  17p13.1   HGNC cytogenetic band: 17p13.1

ACAP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACAP1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P007239:  view genomic region     (about GC identifiers)

Start:
7,239,848 bp from pter      End:
7,254,797 bp from pter
Size:
14,950 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ACAP1_HUMAN, Q15027 (See protein sequence)
Recommended Name: Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1  
Size: 740 amino acids; 81536 Da
Subunit: Interacts with GTP-bound ARF6. Interacts with third cytoplasmic loop of SLC2A4/GLUT4. Interacts with
CLTC. Interacts with GULP1. Forms a complex with GDP-bound ARF6 and GULP1. Interacts with ITGB1; required for
ITGB1 recycling
Miscellaneous: Cells overexpressing ACAP1 show an accumulation of ITGB1 in recycling endosomes and inhibition of
stimulation-dependent cell migration. Cells with reduced levels of ACAP1 or AKT1 and AKT2 show inhibition of
stimulation-dependent cell migration. Cells overexpressing ACAP1 and PIP5K1C show formation of tubular structures
derived from endosomal membranes
Sequence caution: Sequence=BAA06418.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
3 PDB 3D structures from and Proteopedia for ACAP1:
3JUE (3D)        3T9K (3D)        4F1P (3D)    
Secondary accessions: Q53XN9

Explore the universe of human proteins at neXtProt for ACAP1: NX_Q15027

Explore proteomics data for ACAP1 at MOPED

Post-translational modifications: 

  • Phosphorylation at Ser-554 by PKB is required for interaction with ITGB1, export of ITGB1 from recycling endosomes
    to the cell surface and ITGB1-dependent cell migration1
  • Ubiquitination2 at Lys40, Lys90, Lys114, Lys183, Lys185, Lys218, Lys248, Lys274, Lys522, Lys558
  • Modification sites at PhosphoSitePlus

  • See ACAP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_055531.1  
    ENSEMBL proteins: 
     ENSP00000158762   ENSP00000458173   ENSP00000459422   ENSP00000461314   ENSP00000460735  
     ENSP00000460803   ENSP00000460054  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PLEKH: Pleckstrin homology (PH) domain containing
    ANKRD: Ankyrin repeat domain containing
    ArfGAP: ADP-ribosylation factor GTPase activating proteins

    Selected InterPro protein domains (see all 7):
     IPR027267 AH/BAR-dom
     IPR001849 Pleckstrin_homology
     IPR001164 ArfGAP
     IPR011993 PH_like_dom
     IPR002110 Ankyrin_rpt

    Graphical View of Domain Structure for InterPro Entry Q15027

    ProtoNet protein and cluster: Q15027

    3 Blocks protein domains:
    IPB001164 HIV Rev interacting protein signature
    IPB001849 Pleckstrin-like
    IPB002110 Ankyrin repeat signature


    UniProtKB/Swiss-Prot: ACAP1_HUMAN, Q15027
    Domain: PH domain binds phospholipids including phosphatidic acid, phosphatidylinositol 3-phosphate,
    phosphatidylinositol 3,5-bisphosphate (PIP2) and phosphatidylinositol 3,4,5-trisphosphate (PIP3). May mediate
    ACAP1-binding to PIP2 or PIP3 containing membranes
    Similarity: Contains 3 ANK repeats
    Similarity: Contains 1 Arf-GAP domain
    Similarity: Contains 1 BAR domain
    Similarity: Contains 1 PH domain


    Find genes that share domains with ACAP1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ACAP1_HUMAN, Q15027
    Function: GTPase-activating protein (GAP) for ADP ribosylation factor 6 (ARF6) required for clathrin-dependent
    export of proteins from recycling endosomes to trans-Golgi network and cell surface. Required for regulated
    export of ITGB1 from recycling endosomes to the cell surface and ITGB1-dependent cell migration
    Enzyme regulation: GAP activity stimulated by phosphatidylinositol 4,5-bisphosphate (PIP2) and phosphatidic acid

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0008060ARF GTPase activator activity IEA--
    GO:0008270zinc ion binding IEA--
         
    Find genes that share ontologies with ACAP1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for ACAP1:
     Decreased focal adhesion (FA)  

         1 MGI phenotypic allele for Acap1 (no phenotypes)

    Find genes that share phenotypes with ACAP1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Acap1tm1(KOMP)Vlcg for ACAP1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ACAP1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ACAP1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ACAP1

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    Addgene plasmids for ACAP1 

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ACAP1_HUMAN, Q15027: Recycling endosome membrane; Peripheral membrane protein; Cytoplasmic side
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus3
    endosome2

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0055038recycling endosome membrane IEA--

    Find genes that share ontologies with ACAP1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ACAP1 About    
    See pathways by source

    SuperPathContained pathways About
    1Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways
    NOD pathway0.33
    2Endocytosis
    Endocytosis
    3Arf6 trafficking events
    Arf6 trafficking events
    4Arf6 signaling events
    Arf6 signaling events


    Find genes that share SuperPaths with ACAP1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for ACAP1
        NOD pathway
    Arf6 trafficking events
    Arf6 signaling events



    1 Kegg Pathway  (Kegg details for ACAP1):
        Endocytosis

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ACAP1
    Interactions:

        GeneGlobe Interaction Network for ACAP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ACAP1 (Q150272, 3 ENSP000001587624) via UniProtKB, MINT, STRING, and/or I2D (see all 33)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IFFO1Q0D2I53, ENSP000003493644I2D: score=4 STRING: ENSP00000349364
    VAMP3Q158363, ENSP000000546664I2D: score=3 STRING: ENSP00000054666
    GULP1Q9UBP93, ENSP000003520474I2D: score=2 STRING: ENSP00000352047
    ABL1P005193, ENSP000003614234I2D: score=1 STRING: ENSP00000361423
    SLC2A4P146723, ENSP000003209354I2D: score=1 STRING: ENSP00000320935
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015031protein transport IEA--
    GO:0032312regulation of ARF GTPase activity IEA--

    Find genes that share ontologies with ACAP1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ACAP1

    Selected HMDB Compounds for ACAP1 (see all 392)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--
    PA(16:0/16:0)Dipalmitoylphosphatidic acid (see all 25)7091-44-3--
    PA(16:0/18:1(11Z))PA(16:0/18:1n7) (see all 10)----
    PA(16:0/18:1(9Z))PA(16:0/18:1n9) (see all 10)----
    PA(16:0/18:2(9Z,12Z))PA(34:2) (see all 10)----
    PA(16:0e/18:0)2-octadecanoyl-1-hexadecyl-sn-glycero-3-phosphate ;PA(o-16:0/18:0) ----
    PA(18:0/18:2(9Z,12Z))PA(36:2) (see all 10)----
    PA(18:1(11Z)/18:1(11Z))PA(36:2) (see all 10)----
    PA(18:1(11Z)/18:1(9Z))PA(36:2) (see all 10)----
    PA(18:1(9Z)/18:1(11Z))PA(36:2) (see all 10)----



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ACAP1 gene: 
    NM_014716.3  

    Unigene Cluster for ACAP1:

    ArfGAP with coiled-coil, ankyrin repeat and PH domains 1
    Hs.337242  [show with all ESTs]
    Unigene Representative Sequence: AK126509
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000158762(uc002ggd.2) ENST00000570457 ENST00000575425 ENST00000576628
    ENST00000573893 ENST00000571220 ENST00000570439 ENST00000576594 ENST00000571471
    ENST00000570504 ENST00000574499 ENST00000575415
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      QuantiFast Probe-based Assays in human, mouse, rat ACAP1

    Additional mRNA sequence: 

    AK126509.1 BC018543.1 BT009788.1 D30758.1 

    9 DOTS entries:

    DT.446222  DT.40227542  DT.100637293  DT.120961877  DT.100645735  DT.100864205  DT.435526  DT.97817607 
    DT.95343392 

    Selected AceView cDNA sequences (see all 190):

    BI962920 BT009788 BM469684 BM783524 AY646650 BM773010 CR599042 BM783819 
    BQ063688 BI029099 BI962890 BG490596 BI966752 BQ955458 BM783122 BI966732 
    AA832252 BQ011672 D30758 BM717944 CK903560 CD558797 BC063604 BX480095 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ACAP1 (see all 8)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a ·
    SP1:        -                 -                 -     -                                                                                               -     -   
    SP2:                          -                 -     -                                                                                                         
    SP3:                                            -     -                                                                                                         
    SP4:        -                 -                                                                                                                                 
    SP5:        -     -           -                 -     -                                                                                                         

    ExUns: 22b ^ 23
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for ACAP1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ACAP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACCTCCACAC
    ACAP1 Expression
    About this image


    ACAP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Thymus (Hematopoietic System)
             Thymus
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Lymph (Hematopoietic System)
     
     Spleen (Hematopoietic System)
    ACAP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACAP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.337242

    UniProtKB/Swiss-Prot: ACAP1_HUMAN, Q15027
    Tissue specificity: Highest level in lung and spleen. Low level in heart, kidney, liver and pancreas

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACAP1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ACAP1 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Acap11 , 5 ArfGAP with coiled-coil, ankyrin repeat and PH domains more1, 5 87.84(n)1
    93.11(a)1
      11 (42.91 cM)5
    2168591  NM_153788.31  NP_722483.21 
     698815675 
    zebrafish
    (Danio rerio)
    Actinopterygii acap11 ArfGAP with coiled-coil, ankyrin repeat and PH domains more 61.08(n)
    59.62(a)
      561771  NM_001080579.1  NP_001074048.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta cenB1A6
    centaurin beta 1A
    32(a)
    1 → many
    3R(18944125-18949941)
    worm
    (Caenorhabditis elegans)
    Secernentea cnt-16
    Protein CNT-1, isoform a
    27(a)
    1 → many
    II(12072070-12088861) WBGene00000565
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes AGE1(YDR524C)4 ADP-ribosylation factor (ARF) GTPase activating protein more   --   4(1488990-1487542) 852136  NP_010812.1 


    ENSEMBL Gene Tree for ACAP1 (if available)
    TreeFam Gene Tree for ACAP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ACAP1 gene
    AGAP52  AGAP62  ASAP12  ARAP32  ACAP22  ACAP32  ASAP22  ARAP12  
    AGAP32  ARAP22  AGAP22  AGAP42  AGAP12  AGAP82  AGAP72  AGAP102  
    AGAP92  ASAP32  
    2 SIMAP similar genes for ACAP1 using alignment to 5 protein entries:     ACAP1_HUMAN (see all proteins):
    ACAP2    ACAP3

    Find genes that share paralogs with ACAP1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ACAP1 (see all 377)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0361794
    A colorectal cancer sample4--see VAR_0361792 R Q mis40--------
    VAR_0361784
    A breast cancer sample4--see VAR_0361782 K R mis40--------
    rs1808009951,2
    --7238092(+) GCTTGC/TAGAGG 1 -- us2k10--------
    rs38098241,2
    C,F,A,H--7238128(+) TGAGAG/ACCTGG 1 -- us2k122Minor allele frequency- A:0.27NS EA NA WA CSA 1521
    rs38098251,2
    C,F,A,H--7238186(+) GGTACA/CCGAGC 1 -- us2k114Minor allele frequency- C:0.29NA WA CSA EA 379
    rs1862403461,2
    C--7238292(+) TTTAGG/TGATCA 1 -- us2k10--------
    rs38265111,2
    C,F,H--7238325(+) ATGGCG/AACAAT 1 -- us2k116Minor allele frequency- A:0.27NA WA CSA EA 514
    rs1438385391,2
    --7238350(+) CTGTTA/GAGGGC 1 -- us2k10--------
    rs38098261,2
    C,F,H--7238518(+) TCAGAA/GGCGGT 1 -- us2k127Minor allele frequency- G:0.25EA NS NA WA CSA 3376
    rs1472352251,2
    --7238883(+) TCAAAC/GTCTTC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ACAP1 (7239848 - 7254797 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for ACAP1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2671173CNV Deletion23128226
    esv2422288CNV Deletion17116639
    nsv509650CNV Insertion20534489
    nsv907641CNV Loss21882294
    dgv3053n71CNV Loss21882294
    nsv907642CNV Loss21882294
    nsv457659CNV Loss19166990
    nsv907643CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ACAP1
    DNA2.0 Custom Variant and Variant Library Synthesis for ACAP1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607763    OMIM disorders: --


    Find genes that share disorders with ACAP1           About GenesLikeMe

    Genetic Association Database (GAD): ACAP1
    Human Genome Epidemiology (HuGE) Navigator: ACAP1 (2 documents)

    Export disorders for ACAP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ACAP1 gene, integrated from 10 sources (see all 26):
    (articles sorted by number of sources associating them with ACAP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. ACAPs are arf6 GTPase-activating proteins that function in the cell periphery. (PubMed id 11062263)1, 2, 3, 9 Jackson T.R.... Randazzo P.A. (J. Cell Biol. 2000)
    2. Cooperation of phosphoinositides and BAR domain proteins in endosomal tubulation. (PubMed id 17010122)1, 2, 9 Shinozaki-Narikawa N.... Shibasaki Y. (Traffic 2006)
    3. An ACAP1-containing clathrin coat complex for endocytic recycling. (PubMed id 17664335)1, 2, 9 Li J.... Hsu V.W. (J. Cell Biol. 2007)
    4. Nitroproteins from a human pituitary adenoma tissue discovered with a nitrotyrosine affinity column and tandem mass spectrometry. (PubMed id 16777052)1, 2, 9 Zhan X. and Desiderio D.M. (Anal. Biochem. 2006)
    5. Mechanistic insights into regulated cargo binding by ACAP1 protein. (PubMed id 22645133)1, 2 Bai M....Hsu V.W. (J. Biol. Chem. 2012)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    7. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (Mutat. Res. 2010)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Cytohesins and centaurins: mediators of PI 3-kinase-regulated Arf signaling. (PubMed id 11050434)1, 3 Jackson T.R....Theibert A.B. (Trends Biochem. Sci. 2000)
    10. Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1. (PubMed id 7584044)1, 2 Nomura N.... Tabata S. (DNA Res. 1994)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9744 HGNC: 16467 AceView: CENTB1andKCTD11 Ensembl:ENSG00000072818 euGenes: HUgn9744
    ECgene: ACAP1 Kegg: 9744 H-InvDB: ACAP1

    (According to HUGE)
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    HUGE: KIAA0050

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ACAP1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ACAP1 gene:
    Search GeneIP for patents involving ACAP1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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