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

KATNA1 Gene

protein-coding   GIFtS: 61
GCID: GC06M149957

Katanin P60 (ATPase Containing) Subunit A 1

(Previous name: katanin p60 (ATPase-containing) subunit A 1)
  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

Aliases
Katanin P60 (ATPase Containing) Subunit A 11 2
Katanin P60 (ATPase-Containing) Subunit A 11 2
Katanin P60 Subunit A12 3
P60 Katanin2 3
EC 3.6.4.33 8
Katanin P60 ATPase-Containing Subunit A12

External Ids:    HGNC: 62161   Entrez Gene: 111042   Ensembl: ENSG000001866257   OMIM: 6066965   UniProtKB: O754493   

Export aliases for KATNA1 gene to outside databases

Previous GC identifers: GC06M149429 GC06M149763 GC06M9O0076 GC06M147482


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

Entrez Gene summary for KATNA1 Gene:
Microtubules, polymers of alpha and beta tubulin subunits, form the mitotic spindle of a dividing cell and help to
organize membranous organelles during interphase. Katanin is a heterodimer that consists of a 60 kDa ATPase (p60
subunit A 1) and an 80 kDa accessory protein (p80 subunit B 1). The p60 subunit acts to sever and disassemble
microtubules, while the p80 subunit targets the enzyme to the centrosome. This gene encodes the p80 subunit. This
protein is a member of the AAA family of ATPases. Multiple alternatively spliced variants, encoding the same
protein, have been identified. (provided by RefSeq, Feb 2011)

GeneCards Summary for KATNA1 Gene: 
KATNA1 (katanin p60 (ATPase containing) subunit A 1) is a protein-coding gene. Diseases associated with KATNA1 include lissencephaly, and choriocarcinoma. GO annotations related to this gene include dynein binding and protein heterodimerization activity. An important paralog of this gene is VPS4B.

UniProtKB/Swiss-Prot: KTNA1_HUMAN, O75449
Function: Catalytic subunit of a complex which severs microtubules in an ATP-dependent manner. Microtubule
severing may promote rapid reorganization of cellular microtubule arrays and the release of microtubules from the
centrosome following nucleation. Microtubule release from the mitotic spindle poles may allow depolymerization of
the microtubule end proximal to the spindle pole, leading to poleward microtubule flux and poleward motion of
chromosome. Microtubule release within the cell body of neurons may be required for their transport into neuronal
processes by microtubule-dependent motor proteins. This transport is required for axonal growth (By similarity)

Gene Wiki entry for KATNA1 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_000006.11  NT_025741.15  NC_018917.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KATNA1 gene promoter:
         Bach2   STAT5A   Evi-1   HNF-1A   POU2F1   POU2F1b   HNF-1   POU2F1a   POU2F1c   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): KATNA1 promoter sequence
   Search SABiosciences Chromatin IP Primers for KATNA1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KATNA1


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

Entrez Gene cytogenetic band: 6q25.1   Ensembl cytogenetic band:  6q25.1   HGNC cytogenetic band: 6q24.3

KATNA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KATNA1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M149957:  view genomic region     (about GC identifiers)

Start:
149,916,009 bp from pter      End:
149,970,108 bp from pter
Size:
54,100 bases      Orientation:
minus 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: KTNA1_HUMAN, O75449 (See protein sequence)
Recommended Name: Katanin p60 ATPase-containing subunit A1  
Size: 491 amino acids; 55965 Da
Subunit: Can homooligomerize into hexameric rings, which may be promoted by interaction with microtubules (By
similarity). Interacts with KATNB1, which may serve as a targeting subunit. Interacts with dynein and NDEL1 (By
similarity). Associates with the E3 ligase complex containing DYRK2, EDD/UBR5, DDB1 and VPRBP proteins (EDVP
complex). Interacts with KLHL42 (via the kelch domains). Interacts with CUL3; the interaction is enhanced by
KLHL42
Subcellular location: Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm,
cytoskeleton, spindle. Cytoplasm, cytoskeleton, spindle pole. Midbody. Cytoplasm, cytoskeleton.
Note=Predominantly cytoplasmic. Localized diffusely in the cytoplasm during the interphase. During metaphase is
localized throughout the cell and more widely dispersed than the microtubules. In anaphase and telophase is
localized at the midbody region. Also localized to the interphase centrosome and the mitotic spindle poles.
Enhanced recruitment to the mitotic spindle poles requires microtubules and interaction with KATNB1
Secondary accessions: E1P5A3 Q5TFA8 Q5TFA9 Q86VN2 Q9NU52
Alternative splicing: 2 isoforms:  O75449-1   O75449-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KATNA1: NX_O75449

Explore proteomics data for KATNA1 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation by DYRK2 triggers ubiquitination and subsequent degradation
  • UniProtKB: Ubiquitinated by the EDVP E3 ligase complex and subsequently targeted to proteasomal degradation. Ubiquitinated by
    the BCR(KLHL42) E3 ubiquitin ligase complex, leading to its proteasomal degradation
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O75449

  • 4/18 DME Specific Peptides for KATNA1 (O75449) (see all 18)
     WDDIADL  KSVSAAD  RRLEKRI  QMDGVGG 

    KATNA1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KATNA1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001191005.1  NP_008975.1  

    ENSEMBL proteins: 
     ENSP00000335106   ENSP00000335180   ENSP00000390322   ENSP00000398993   ENSP00000356381  

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    Cloud-Clone Corp. Proteins for KATNA1 

    Gene Ontology (GO): 5/12 cellular component terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000922spindle pole IDA10751153
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IDA19261606
    GO:0005811lipid particle IEA--
    GO:0005813centrosome IDA--

    KATNA1 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: 
    AATP: ATPases / AAA-type

    5 InterPro protein domains:
     IPR003959 ATPase_AAA_core
     IPR015415 Vps4_C
     IPR003960 ATPase_AAA_CS
     IPR027417 P-loop_NTPase
     IPR003593 AAA+_ATPase

    Graphical View of Domain Structure for InterPro Entry O75449

    ProtoNet protein and cluster: O75449

    1 Blocks protein domain: IPB003960 AAA-protein subdomain

    UniProtKB/Swiss-Prot: KTNA1_HUMAN, O75449
    Domain: The N-terminus is sufficient for interaction with microtubules. However, high affinity binding to
    microtubules also requires an intact C-terminal domain and ATP, which promotes oligomerization (By similarity)
    Similarity: Belongs to the AAA ATPase family. Katanin p60 subunit A1 subfamily


    KATNA1 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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KTNA1_HUMAN, O75449
    Function: Catalytic subunit of a complex which severs microtubules in an ATP-dependent manner. Microtubule
    severing may promote rapid reorganization of cellular microtubule arrays and the release of microtubules from the
    centrosome following nucleation. Microtubule release from the mitotic spindle poles may allow depolymerization of
    the microtubule end proximal to the spindle pole, leading to poleward microtubule flux and poleward motion of
    chromosome. Microtubule release within the cell body of neurons may be required for their transport into neuronal
    processes by microtubule-dependent motor proteins. This transport is required for axonal growth (By similarity)
    Catalytic activity: ATP + H(2)O = ADP + phosphate
    Enzyme regulation: ATPase activity is stimulated by microtubules, which promote homooligomerization (By
    similarity). ATP dependent microtubule severing is stimulated by interaction with KATNB1

         Enzyme Number (IUBMB): EC 3.6.4.31 2

         Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005515protein binding IPI19261606
    GO:0005524ATP binding IEA--
    GO:0008017microtubule binding IDA10751153
    GO:0008568contributes to microtubule-severing ATPase activity IDA10751153
         
    KATNA1 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for Katna1 (no phenotypes)

    KATNA1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for KATNA1 
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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 KATNA1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Lissencephaly gene (LIS1) in neuronal migration and development
    Lissencephaly gene (LIS1) in neuronal migration and development


    1 BioSystems Pathway for KATNA1
        Lissencephaly gene (LIS1) in neuronal migration and development



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KATNA1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/22 Interacting proteins for KATNA1 (O754493 ENSP000003351064) via UniProtKB, MINT, STRING, and/or I2D (see all 22)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RPL17P186213I2D: score=4 
    RPL17-C18orf32P186213I2D: score=4 
    LIPEQ054693, ENSP000002442894I2D: score=2 STRING: ENSP00000244289
    CIAO1O760713, ENSP000004182874I2D: score=1 STRING: ENSP00000418287
    CUL3Q136183, ENSP000002644144I2D: score=1 STRING: ENSP00000264414
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001578microtubule bundle formation IEA--
    GO:0001764neuron migration IEA--
    GO:0006200ATP catabolic process ----
    GO:0006281DNA repair ----
    GO:0006310DNA recombination ----

    KATNA1 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 KATNA1 (KTNA1)

    4 HMDB Compounds for KATNA1    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    Search CenterWatch for drugs/clinical trials and news about KATNA1 / KTNA1

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 KATNA1 gene (2 alternative transcripts): 
    NM_001204076.1  NM_007044.3  

    Unigene Cluster for KATNA1:

    Katanin p60 (ATPase containing) subunit A 1
    Hs.450175  [show with all ESTs]
    Unigene Representative Sequence: NM_007044
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000335647(uc003qmr.2) ENST00000335643(uc003qmt.3 uc011eed.1)
    ENST00000494504 ENST00000481905 ENST00000470620 ENST00000444282 ENST00000420200
    ENST00000367411(uc003qms.3)
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    Additional mRNA sequence: 

    AF056022.1 AK292090.1 BC050428.1 

    11 DOTS entries:

    DT.91739871  DT.95273610  DT.217838  DT.100672584  DT.91739852  DT.95147814  DT.95273608  DT.95273609 
    DT.100783414  DT.425072  DT.99998659 

    24/144 AceView cDNA sequences (see all 144):

    BQ020488 CB151916 CR601101 CR619457 AI873674 CR600129 AI796400 CB243927 
    AI246235 CR590166 AA252346 BI755443 BU674288 AA913183 AL525872 AI268183 
    BG702518 BC050428 CA950724 BX102424 AA281537 AA344883 CA427490 AA137240 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for KATNA1    About this scheme

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


    ECgene alternative splicing isoforms for KATNA1

    (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

    KATNA1 expression in normal human tissues (normalized intensities)      KATNA1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAACTGTGA
    KATNA1 Expression
    About this image


    KATNA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/21 selected tissues (see all 21) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 3 entries
             colon ; peripheral nerve/ganglion   
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             lung ; macrophages   

    See KATNA1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KATNA1

    SOURCE GeneReport for Unigene cluster: Hs.450175
        SABiosciences Custom PCR Arrays for KATNA1
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    In Situ
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    (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 eukaryotes.

    Orthologs for KATNA1 gene from 9/20 species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Katna11 , 5 katanin p60 (ATPase-containing) subunit A11, 5 88.59(n)1
    92.87(a)1
      10 (2.32 cM)5
    239241  NM_011835.21  NP_035965.21 
     77260005 
    chicken
    (Gallus gallus)
    Aves KATNA11 katanin p60 (ATPase containing) subunit A 1 82.52(n)
    88.98(a)
      421626  NM_001044648.1  NP_001038113.1 
    lizard
    (Anolis carolinensis)
    Reptilia KATNA16
    Uncharacterized protein
    88(a)
    1 ↔ 1
    GL343259.1(246589-257612)
    African clawed frog
    (Xenopus laevis)
    Amphibia AF177942.12   -- 79.33(n)    AF177942.1 
    zebrafish
    (Danio rerio)
    Actinopterygii katna11 katanin p60 (ATPase-containing) subunit A 1 70.81(n)
    78.47(a)
      553631  NM_001020604.1  NP_001018440.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta katanin-603 microtubule-based process microtubule
    binding
    68(a)
    (best of 4)
      82F6   --
    worm
    (Caenorhabditis elegans)
    Secernentea mei-13 MEI-1 meiotic spindle formation protein 45(a)
    (best of 3)
      I(8302941-8304783)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VPS46
    AAA-ATPase involved in multivesicular body (MVB) p...
    35(a)
    1 → many
    XVI(886524-887837)
    rice
    (Oryza sativa)
    Liliopsida Os.269402 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 77.19(n)    AK059564.1 


    ENSEMBL Gene Tree for KATNA1 (if available)
    TreeFam Gene Tree for KATNA1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KATNA1 gene
    VPS4B2  ENSG000002609142  KATNAL12  KATNAL22  VPS4A2  
    8 SIMAP similar genes for KATNA1 using alignment to 3 protein entries:     KTNA1_HUMAN (see all proteins):
    KATNAL1    KATNAL2    VPS4A    VPS4B    FIGNL1    PSMC5
    PSMC6    SPAST

    KATNA1 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

    10/1133 SNPs in KATNA1 are shown (see all 1133)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1474291571,2
    C--149916365(+) AGGACA/C/GCATCC 6 A G V R C mis11NA 4548
    rs1452524751,2
    C--149916416(+) TACTTC/TGGTTA 2 -- int10--------
    rs1476078991,2
    --149916594(+) ATAATC/TAATAC 2 -- int10--------
    rs737812471,2
    C,F--149916810(+) AAAAAC/AAAAAC 2 -- int12Minor allele frequency- A:0.50WA NA 4
    rs1486389281,2
    --149916883(+) GCAAAC/GGGATA 2 -- int10--------
    rs1162212051,2
    C,F--149916947(+) TGGTAT/GGCTCA 2 -- int11Minor allele frequency- G:0.01WA 118
    rs1420930981,2
    --149916970(+) GGAAAC/TGAGCG 2 -- int10--------
    rs37779491,2
    C,F,A,H--149917157(-) AATGAT/CTGTGA 2 -- int131Minor allele frequency- C:0.39EA NA NS WA CSA 3632
    rs761984921,2
    C,F--149917269(+) TGAACT/ATGTAG 2 -- int11Minor allele frequency- A:0.16WA 118
    rs730068251,2
    C,F--149917384(+) ATGTAT/CGTGGG 2 -- int11Minor allele frequency- C:0.04NA 120

    HapMap Linkage Disequilibrium report for KATNA1 (149916009 - 149970108 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for KATNA1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2676732CNV Deletion23128226
    nsv886762CNV Loss21882294

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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: 606696    OMIM disorders: --

    6 diseases for KATNA1:    About MalaCards
    lissencephaly    choriocarcinoma    neuronitis    prostate cancer
    breast cancer    prostatitis


    KATNA1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): KATNA1
    Human Genome Epidemiology (HuGE) Navigator: KATNA1 (1 document)

    Export disorders for KATNA1 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 KATNA1 gene, integrated from 9 sources (see all 40):
    (articles sorted by number of sources associating them with KATNA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Katanin is responsible for the M-phase microtubule-severing activity in Xenopus eggs. (PubMed id 9658175)1, 2, 3 McNally F.J. and Thomas S. (1998)
    2. Two domains of p80 katanin regulate microtubule severing and spindle pole targeting by p60 katanin. (PubMed id 10751153)1, 2, 9 McNally K.P.... McNally F.J. (2000)
    3. Protein kinase DYRK2 is a scaffold that facilitates assembly of an E3 ligase. (PubMed id 19287380)1, 2, 9 Maddika S. and Chen J. (2009)
    4. Centrosome-related genes, genetic variation, and risk of breast cancer. (PubMed id 20508983)1, 4 Olson J.E....Couch F.J. (2010)
    5. The Cul3/Klhdc5 E3 ligase regulates p60/katanin and is required for normal mitosis in mammalian cells. (PubMed id 19261606)1, 2 Cummings C.M....Singer J.D. (2009)
    6. 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)
    7. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    8. Katanin inhibition prevents the redistribution of gamma-tubulin at mitosis. (PubMed id 11870226)1, 2 Buster D.... McNally F.J. (2002)
    9. Recruitment of katanin p60 by phosphorylated NDEL1, an LIS1 interacting protein, is essential for mitotic cell division and neuronal migration. (PubMed id 16203747)1, 9 Toyo-Oka K.... Hirotsune S. (2005)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)

    (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: 11104 HGNC: 6216 AceView: KATNA1 Ensembl:ENSG00000186625 euGenes: HUgn11104
    ECgene: KATNA1 H-InvDB: KATNA1

    (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 KATNA1 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 KATNA1 gene:
    Search GeneIP for patents involving KATNA1

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



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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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