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

KPTN Gene

protein-coding   GIFtS: 44
GCID: GC19M047978

Kaptin (Actin Binding Protein)

(Previous name: kaptin (actin-binding protein))
  2 related diseases
at
MalaCards
 

Aliases
for KPTN gene

(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
Aliases
Kaptin (Actin Binding Protein)1 2
Kaptin (Actin-Binding Protein)1 2
Actin-Associated Protein 2E42 3
2E42
kaptin2

External Ids:    HGNC: 64041   Entrez Gene: 111332   Ensembl: ENSG000001181627   UniProtKB: Q9Y6643   

Export aliases for KPTN gene to outside databases

Previous GC identifers: GC19M048625 GC19M048369 GC19M052654 GC19M052670 GC19M052657 GC19M044406


Summaries
for KPTN gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
GeneCards Summary for KPTN Gene: 
KPTN (kaptin (actin binding protein)) is a protein-coding gene. Diseases associated with KPTN include isovaleric acidemia, and neuronitis. GO annotations related to this gene include actin binding.

UniProtKB/Swiss-Prot: KPTN_HUMAN, Q9Y664
Function: May be involved in actin dynamics. May play a role in producing the sensory apparatus in hair cells. May play
a role in actin rearrangements that accompany platelet activation and stereocilia formation

Gene Wiki entry for KPTN (Kaptin) Gene


Genomic Views
for KPTN 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011109.16  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KPTN gene promoter:
         Max1   AML1a   MIF-1   C/EBPalpha   GATA-1   CREB   NRF-2   HOXA5   deltaCREB   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: KPTN promoter sequence
   Search SABiosciences Chromatin IP Primers for KPTN

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KPTN


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

Entrez Gene cytogenetic band: 19q13.32   Ensembl cytogenetic band:  19q13.32   HGNC cytogenetic band: 19q13.3

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

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M047978:  view genomic region     (about GC identifiers)

Start:
 47,978,400 bp from pter      End:
 47,987,525 bp from pter
Size:
 9,126 bases      Orientation:
 minus strand

Proteins
for KPTN gene

(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: KPTN_HUMAN, Q9Y664 (See protein sequence)
Recommended Name: Kaptin  
Size: 436 amino acids; 48080 Da
Subunit: Associates with one end of F-actin filaments
Subcellular location: Cytoplasm. Cytoplasm, perinuclear region. Cell projection, stereocilium. Cell projection, growth
cone. Note=Perinuclear at the tips of stereocilium in the inner ear. Localized at sites of actin polymerization in
motile fibroblasts and neuronal growth cones
Sequence caution: Sequence=AAD39358.1; Type=Frameshift; Positions=8, 14, 410, 419;
Secondary accessions: B3KN86 Q96GT1

Explore the universe of human proteins at neXtProt for KPTN: NX_Q9Y664

Explore proteomics data for KPTN at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y664

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

    KPTN Protein Expression
    REFSEQ proteins: NP_008990.2  
    ENSEMBL proteins: 
     ENSP00000337850   ENSP00000470364   ENSP00000469446   ENSP00000472291   ENSP00000442579  

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    Cloud-Clone Corp. Proteins for KPTN 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus TAS1372044
    GO:0005815microtubule organizing center TAS1372044
    GO:0015629actin cytoskeleton TAS10099934
    GO:0030426growth cone IEA--
    GO:0032420stereocilium IEA--

    KPTN for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for KPTN gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ProtoNet protein and cluster: Q9Y664


    Function
    for KPTN gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section
    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KPTN_HUMAN, Q9Y664
    Function: May be involved in actin dynamics. May play a role in producing the sensory apparatus in hair cells. May play
    a role in actin rearrangements that accompany platelet activation and stereocilia formation

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
         
    KPTN for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Kptn):
     adipose tissue  growth/size  hematopoietic system  homeostasis/metabolism  immune system 

    KPTN for phenotypes           About GeneDecksing

    Animal Models:
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    miRNA
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    In Situ Assay
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    Pathways & Interactions
    for KPTN gene

    (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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KPTN

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/6 Interacting proteins for KPTN (Q9Y6643 ENSP000003378504) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PKIGQ9Y2B93, ENSP000003380674I2D: score=2 STRING: ENSP00000338067
    ACTC1P680323, ENSP000002903784I2D: score=1 STRING: ENSP00000290378
    ITFG2Q969R83, ENSP000002287994I2D: score=1 STRING: ENSP00000228799
    RAB25P577353, ENSP000003543764I2D: score=1 STRING: ENSP00000354376
    TSPAN7P417323, ENSP000003677434I2D: score=1 STRING: ENSP00000367743
    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:0006928cellular component movement TAS10099934
    GO:0007015actin filament organization TAS10099934
    GO:0007605sensory perception of sound NAS10099934

    KPTN for ontologies           About GeneDecksing



    Drugs & Compounds
    for KPTN gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, IUPHAR, 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 KPTN

    Search CenterWatch for drugs/clinical trials and news about KPTN

    Transcripts
    for KPTN gene

    (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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for KPTN gene: 
    NM_007059.2  

    Unigene Cluster for KPTN:

    Kaptin (actin binding protein)
    Hs.25441  [show with all ESTs]
    Unigene Representative Sequence: NM_007059
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000338134(uc002pgy.3 uc010xys.2) ENST00000600551 ENST00000594208
    ENST00000595554 ENST00000600271 ENST00000594139 ENST00000595484 ENST00000602193
    ENST00000598699 ENST00000536339
    miRNA
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    hsa-miR-607 hsa-miR-3175
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    Inhib. RNA
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    Additional mRNA sequence: 

    AF105369.1 AK023996.1 AK225419.1 AK298672.1 BC009249.2 

    7 DOTS entries:

    DT.412723  DT.95374050  DT.100730098  DT.121497313  DT.95374051  DT.97817091  DT.435399 

    24/98 AceView cDNA sequences (see all 98):

    BG253326 CR590339 AW079333 BQ960142 T08234 T17326 AI005300 AI637754 
    AW015625 AA580276 BE502285 BM761752 AL526946 BM761137 BG749006 AA861996 
    CR618331 AI591027 BM761636 CR619560 BG388698 BM844920 Z41308 AI380182 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for KPTN    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14
    SP1:                                                  -     -                       -                                             
    SP2:                                -     -           -     -                       -                                             
    SP3:        -     -     -                             -     -                                                                     
    SP4:                                                                                                                              
    SP5:                                                  -     -                                                                     


    ECgene alternative splicing isoforms for KPTN

    Expression
    for KPTN gene

    (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

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


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

    SOURCE GeneReport for Unigene cluster: Hs.25441
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    Orthologs
    for KPTN gene

    (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
    This gene was present in the common ancestor of chordates.

    Orthologs for KPTN gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Kptn1 , 5 kaptin1, 5 84.19(n)1
    88.84(a)1    		   7 (8.75 cM)5
    703941  NM_133727.21  NP_598488.21 
     161198955 
    lizard
    (Anolis carolinensis)    		 Reptilia KPTN6
    		 kaptin (actin binding protein)
    		 62(a)
    		 1 ↔ 1
    		 GL343564.1(213829-236609)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.256612 Xenopus laevis transcribed sequence with weak similarity more 74.89(n)    48048863 
    zebrafish
    (Danio rerio)    		 Actinopterygii 570468172   -- 69.95(n)    57046817 


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

    Paralogs
    for KPTN gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for KPTN gene

    (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

    10/197 SNPs in KPTN are shown (see all 197)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 19 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1469269801,2
    		--47978104(+) CTGGGG/TTCTCA 1 -- ds50010--------
    rs621286821,2
    		F--47978171(+) TCTGTT/CCCACA 1 -- ds50012Minor allele frequency- C:0.03NA 122
    rs1143611871,2
    		C,F--47978277(+) AGCCTT/GGGATT 1 -- ds50011Minor allele frequency- G:0.05WA 118
    rs1811970951,2
    		--47978302(+) TCCCTC/TTCCCT 1 -- ds50010--------
    rs1380424591,2
    		--47978423(+) TGGACA/GTATAA 1 -- ut310--------
    rs1854239251,2
    		--47978426(+) ACGTAC/TAAATA 1 -- ut310--------
    rs1890024091,2
    		--47978501(+) ATAGGC/GACATT 1 -- ut310--------
    rs1435234501,2
    		C--47978612(+) ACCAGC/TGGCTG 1 -- ut310--------
    rs1472036321,2
    		--47978613(+) CCAGCA/GGCTGG 1 -- ut310--------
    rs1486649231,2
    		C,F--47978638(+) TGAGTC/TGCCCC 1 -- ut311Minor allele frequency- T:0.02EU 649

    HapMap Linkage Disequilibrium report for KPTN (47978400 - 47987525 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for KPTN:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv912202CNV Loss21882294
    nsv428366CNV Loss18775914
    dgv1107e1CNV Complex17122850

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    Disorders / Diseases
    for KPTN gene

    (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
    KPTN for disorders           About GeneDecksing

    2 diseases for KPTN:    About MalaCards
    isovaleric acidemia    neuronitis


    Export disorders for KPTN gene to outside databases

    Publications
    for KPTN gene

    (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 KPTN gene, integrated from 9 sources (see all 11):
    (articles sorted by number of sources associating them with KPTN)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. 2E4 (kaptin): a novel actin-associated protein from human blood platelets found in lamellipodia and the tips of the stereocilia of the inner ear. (PubMed id 10099934)1, 2, 3, 9 Bearer E.L. and Abraham M.T. (1999)
    2. 2E4/Kaptin (KPTN) - a candidate gene for the hearing loss loci, DFNA4. (PubMed id 11409409)1, 2, 9 Bearer E.L....Jackson C.L. (2000)
    3. 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. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. An actin-associated protein present in the microtubule organizing center and the growth cones of PC-12 cells. (PubMed id 1372044)1, 2 Bearer E.L. (1992)
    6. Actin dynamics in platelets. (PubMed id 12019562)1, 9 Bearer E.L....Li Z. (2002)
    7. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    8. Large-scale mapping of human protein-protein interactions by mass spectrometry. (PubMed id 17353931)1 Ewing R.M.... Figeys D. (2007)
    9. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    External Searches for KPTN gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing KPTN gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 11133 HGNC: 6404 AceView: KPTN Ensembl:ENSG00000118162 euGenes: HUgn11133
    ECgene: KPTN H-InvDB: KPTN

    Other Databases showing KPTN gene

    (According to HUGE)
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    Specialized Databases showing KPTN gene

    (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 KPTN Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for KPTN gene

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

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