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POTEKP Gene

pseudogene   GIFtS: 38
GCID: GC02P132350

POTE Ankyrin Domain Family, Member K, Pseudogene

(Previous names: actin, beta-like 3, POTE ankyrin domain family, member K)
(Previous symbols: ACTBL3, POTEK)
  See related disease
at  

(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
POTE Ankyrin Domain Family, Member K, Pseudogene1 2     POTE Ankyrin Domain Family, Member K1
ACTBL31 2 3 5     POTE2delta2
POTEK1 2 5     Kappa-actin3
ACT2 5     POTE Ankyrin Domain Family Member K3
Actin, Beta-Like 31     FKSG305

External Ids:    HGNC: 301821   Entrez Gene: 4409152   Ensembl: ENSG000002044347   OMIM: 6112665   UniProtKB: Q9BYX73   

Export aliases for POTEKP gene to outside databases

Previous GC identifers: GC02P132069 GC02P124342


(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 POTEKP Gene:
POTEKP (POTE ankyrin domain family, member K, pseudogene) is a pseudogene. Diseases associated with POTEKP include hepatocellular carcinoma.


(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:
NC_000002.12  NC_018913.2  NT_005403.18  
Regulatory elements:
   Search for regulatory transcription factor binding sites for POTEKP
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for POTEKP

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


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

Entrez Gene cytogenetic band: 2q21.1   Ensembl cytogenetic band:  2q21.1   HGNC cytogenetic band: 2q21.2

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

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P132350:  view genomic region     (about GC identifiers)

Start:
132,349,268 bp from pter      End:
132,384,999 bp from pter
Size:
35,732 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., 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: ACTBM_HUMAN, Q9BYX7 (See protein sequence)
Recommended Name: Putative beta-actin-like protein 3  
Size: 375 amino acids; 42016 Da
Subunit: Interacts with PFN1 and PFDN1. Does not interact with PFN2
Caution: Could be the product of a pseudogene
Secondary accessions: Q562N5

Explore the universe of human proteins at neXtProt for POTEKP: NX_Q9BYX7

Explore proteomics data for POTEKP at MOPED

Post-translational modifications: 

  • Oxidation of Met-44 and Met-47 by MICALs (MICAL1, MICAL2 or MICAL3) to form methionine sulfoxide promotes actin
    filament depolymerization. MICAL1 and MICAL2 produce the (R)-S-oxide form. The (R)-S-oxide form is reverted by
    MSRB1 and MSRB2, which promote actin repolymerization (By similarity)1
  • Monomethylation at Lys-84 (K84me1) regulates actin-myosin interaction and actomyosin-dependent processes.
    Demethylation by ALKBH4 is required for maintaining actomyosin dynamics supporting normal cleavage furrow
    ingression during cytokinesis and cell migration1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

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

    Reactome Protein details: Q9BYX7

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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:
    POTE: POTE ankyrin domain containing

    3 InterPro protein domains:
     IPR020902 Actin/actin-like_CS
     IPR004001 Actin_CS
     IPR004000 Actin-related

    Graphical View of Domain Structure for InterPro Entry Q9BYX7

    ProtoNet protein and cluster: Q9BYX7

    1 Blocks protein domain: IPB004000 Actin/actin-like

    UniProtKB/Swiss-Prot: ACTBM_HUMAN, Q9BYX7
    Similarity: Belongs to the actin family


    POTEKP for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005524ATP binding IEA--
         
    POTEKP for ontologies           About GeneDecksing


    Animal Models:
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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
    ACTBM_HUMAN, Q9BYX7: Cytoplasm, cytoskeleton (By similarity)

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005829cytosol TAS--
    GO:0005856cytoskeleton IEA--

    POTEKP for ontologies           About GeneDecksing


    (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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    Pathways by sourceSee SuperPaths
    Show all pathways


    1 Reactome Pathway for POTEKP
        Platelet degranulation



    POTEKP for pathways           About GeneDecksing

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

        Search GeneGlobe Interaction Network for POTEKP

    4 Interacting proteins for POTEKP (Q9BYX72, 3) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TNFRSF1BP203332, 3MINT-49414 I2D: score=2 
    ARRB1P494073I2D: score=1 
    ARRB2P321213I2D: score=1 
    BTKQ061873I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002576platelet degranulation TAS--
    GO:0007596blood coagulation TAS--
    GO:0030168platelet activation TAS--

    POTEKP for ontologies           About GeneDecksing



    (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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for POTEKP (ACTBM)



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for POTEKP gene: 
    NM_001017421.1  

    Unigene Cluster for POTEKP:

    POTE ankyrin domain family, member K, pseudogene
    Hs.631267  [show with all ESTs]
    Unigene Representative Sequence: XR_158979
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000397487 ENST00000420985(uc021vps.1)
    miRNA
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    Primer
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    Additional mRNA sequence: 

    AY014272.1 HM358967.1 HM358970.1 HM358980.1 HM358985.1 HM358990.1 XR_158979.1 XR_159394.1 
    XR_171334.1 

    4 DOTS entries:

    DT.92010774  DT.102839168  DT.100852433  DT.102839155 

    2 AceView cDNA sequences:

    BM763453 BM763942 

    GeneLoc Exon Structure


    (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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    POTEKP expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    POTEKP Expression
    About this image


    POTEKP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Thymus (Hematopoietic System)
             Double Negative 2 Thymocytes Thymus
     
     Blood (Cardiovascular System)
             Double Negative 2 Thymocytes Thymus
    POTEKP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    POTEKP Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.631267

    UniProtKB/Swiss-Prot: ACTBM_HUMAN, Q9BYX7
    Tissue specificity: Expressed in some hepatocellular carcinomas

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POTEKP

    (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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      --

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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for POTEKP gene
    Selected SIMAP similar genes for POTEKP using alignment to 1 protein entry:     ACTBM_HUMAN(see all similar genes):
    POTEI    POTEE    POTEF    POTEJ    POTEM    ACTB
    ACTA2    PS1TP5BP1    ACT    ACTC1    ACTG1    ACTBL2
    ACTG2    ACTR1B    ACTR1A    ACTRT3    ACTA1    ACTRT1

    POTEKP for paralogs           About GeneDecksing



    (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 POTEKP (see all 1058)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs133856291,2
    C,A--124344860(-) ATCACC/TCAGGC 1 -- int11Minor allele frequency- T:0.50NA 2
    rs42474381,2
    C--124350651(-) CAACCA/GAAGTG 1 -- int10--------
    rs19931191,2
    C,A,H--124350961(-) CCCAAA/GTAATT 1 -- int13Minor allele frequency- G:0.10NA 10
    rs24074551,2
    --124351194(-) ATTTAA/GTGGAA 1 -- int10--------
    rs285093281,2
    C--124351298(-) GTAGCG/AATAAG 1 -- int11Minor allele frequency- A:0.50NA 2
    rs18236511,2
    C,O--124351644(-) CACATG/ATATCT 1 -- int11Minor allele frequency- A:0.50NA 2
    rs75801671,2
    C,H--124352196(+) AAAATA/GTTGAT 2 -- nc-transcript-variant0--------
    rs41075861,2
    --124353261(-) CAGGGC/GAAGGT 1 -- int10--------
    rs41075841,2
    --124353407(-) TGAGAA/TTTCTC 1 -- int10--------
    rs41075831,2
    --124353438(-) CTGTTA/GAGTCC 1 -- int10--------

    HapMap Linkage Disequilibrium report for POTEKP (132349268 - 132384999 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for POTEKP (see all 25):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2670824CNV Deletion23128226
    esv2660323CNV Deletion23128226
    esv2720787CNV Deletion23290073
    nsv428404CNV Loss18775914
    nsv820012CNV Loss19587683
    nsv10186CNV Loss18304495
    dgv4313n71CNV Gain21882294
    nsv834376CNV Gain17160897
    esv34704CNV Gain17911159
    dgv4314n71CNV Gain21882294

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

    (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: 611266    OMIM disorders: --

    1 disease for POTEKP:    
    About MalaCards
    hepatocellular carcinoma


    POTEKP for disorders           About GeneDecksing

    Genetic Association Database (GAD): POTEKP

    Export disorders for POTEKP 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 POTEKP gene, integrated from 10 sources (see all 14):
    (articles sorted by number of sources associating them with POTEKP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a novel actin isoform in hepatocellular carcinoma. (PubMed id 16824795)1, 2 Chang K.-W.... Yeh C.-T. (Hepatol. Res. 2006)
    2. Duplication and extensive remodeling shaped POTE family genes encoding proteins containing ankyrin repeat and coiled coil domains. (PubMed id 16364570)1, 3 Hahn Y.... Lee B. (Gene 2006)
    3. ALKBH4-dependent demethylation of actin regulates actomyosin dynamics. (PubMed id 23673617)2 Li M.M.... Yang Y.G. (Nat. Commun. 2013)
    4. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
    5. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    6. The interaction between ubiquitin C-terminal hydrolase 37 and glucose-regulated protein 78 in hepatocellular carcinoma. (PubMed id 21800051)1 Fang Y....Shen X. (Mol. Cell. Biochem. 2012)
    7. Integrative analysis of the ubiquitin proteome isolated using Tandem Ubiquitin Binding Entities (TUBEs). (PubMed id 22178446)1 Lopitz-Otsoa F....Rodriguez M.S. (J Proteomics 2012)
    8. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    9. Highly efficient purification of protein complexes from mammalian cells using a novel streptavidin-binding peptide and hexahistidine tandem tag system: application to Bruton's tyrosine kinase. (PubMed id 21080425)1 Li Y....Vondriska T.M. (Protein Sci. 2011)
    10. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (EMBO J. 2009)

    (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: 440915 HGNC: 30182 AceView: LOC440915 Ensembl:ENSG00000204434 euGenes: HUgn440915
    ECgene: POTEKP H-InvDB: POTEKP

    (According to HUGE)
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      --

    (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 POTEKP 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 POTEKP gene:
    Search GeneIP for patents involving POTEKP

    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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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     Search for Antibodies & Assays

     Search Tocris compounds for POTEKP (ACTBM)
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     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

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     Browse ESI BIO Cell Lines and PureStem Progenitors for POTEKP
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     Search ThermoFisher Antibodies for POTEKP
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     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for POTEKP
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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