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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

POTEKP Gene

pseudogene   GIFtS: 39
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 diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

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

External Ids:    HGNC: 301821   Entrez Gene: 4409152   Ensembl: ENSG000002044347   OMIM: 6112665   UniProtKB: Q9BYX73   
ORGUL members:         
NONCODE14:n409500      

Export aliases for POTEKP gene to outside databases

Previous GC identifers: GC02P132069 GC02P124342


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for POTEKP Gene: 
POTEKP (POTE ankyrin domain family, member K, pseudogene) is a pseudogene, and is affiliated with the lncRNA class. Diseases associated with POTEKP include hepatocellular carcinoma, and gastric cancer, and among its related super-pathways are Response to elevated platelet cytosolic Ca2+ and Hemostasis. GO annotations related to this gene include ATP binding.


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.2  NT_022135.16  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for POTEKP
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Cytoplasm, cytoskeleton (By similarity)
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:

  • UniProtKB: Oxidation of Met-44 by MICALs (MICAL1, MICAL2 or MICAL3) to form methionine sulfoxide promotes actin filament
    depolymerization. Methionine sulfoxide is produced stereospecifically, but it is not known whether the
    (S)-S-oxide or the (R)-S-oxide is produced (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BYX7

  • POTEKP Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    POTEKP Protein Expression
    Reactome Protein details: Q9BYX7
    Human Recombinant Protein Products for POTEKP: 
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    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    POTEKP for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

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


    Animal Models:
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for POTEKP About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Platelet degranulation
    Platelet degranulation 0.94
    Response to elevated platelet cytosolic Ca2+0.94
    2Platelet activation, signaling and aggregation
    Platelet activation, signaling and aggregation0.43
    Hemostasis0.43

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4        Reactome Pathways for POTEKP
        Hemostasis
    Platelet degranulation
    Platelet activation, signaling and aggregation
    Response to elevated platelet cytosolic Ca2+



    POTEKP for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks 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 (GO ID links to tree view):    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for POTEKP (ACTBM)

    Search CenterWatch for drugs/clinical trials and news about POTEKP

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    Inhib. RNA
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    Clone
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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:

    BM763942 BM763453 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    POTEKP expression in normal human tissues (normalized intensities)      POTEKP embryonic expression: see
    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 
     5/2 selected tissues (see all 2) fully expand
     
     Thymus (Hematopoietic System)
             Double Negative 2 Thymocytes Thymus
     
     Blood (Cardiovascular System)
             Double Negative 2 Thymocytes Thymus

    See POTEKP Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for POTEKP

    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)
    About This Section
      --

    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)
    About This Section
    Paralogs for POTEKP gene
    18/31 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1058 SNPs in POTEKP are shown (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) 10/25 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

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 611266    OMIM disorders: --

    2 diseases for POTEKP:    About MalaCards
    hepatocellular carcinoma    gastric cancer


    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)
    About This Section

    PubMed articles for POTEKP gene, integrated from 9 sources (see all 13):
    (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. (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. (2006)
    3. Interlaboratory reproducibility of large-scale human p rotein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (2013)
    4. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    5. The interaction between ubiquitin C-terminal hydrolas e 37 and glucose-regulated protein 78 in hepatocellular carcinoma. (PubMed id 21800051)1 Fang Y....Shen X. (2012)
    6. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    7. Highly efficient purification of protein complexes fro m mammalian cells using a novel streptavidin-binding peptide and hexahistidine t andem tag system: application to Bruton's tyrosine kinase. (PubMed id 21080425)1 Li Y....Vondriska T.M. (2011)
    8. Integrative analysis of the ubiquitin proteome isolat ed using Tandem Ubiquitin Binding Entities (TUBEs). (PubMed id 22178446)1 Lopitz-Otsoa F....Rodriguez M.S. (2011)
    9. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
    10. Transcriptome analysis of human gastric cancer. (PubMed id 16341674)1 Oh J.H....Kim N.S. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 440915 HGNC: 30182 AceView: LOC440915 Ensembl:ENSG00000204434 euGenes: HUgn440915
    ECgene: POTEKP H-InvDB: POTEKP

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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