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

KIFAP3 Gene

protein-coding   GIFtS: 64
GCID: GC01M169890

Kinesin-Associated Protein 3

  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
Kinesin-Associated Protein 31 2     FLA32
SMAP2 3 5     KAP-12
Smg GDS-Associated Protein2 3     Smg-GDS2
KAP-32 3     dJ190I16.12
KAP32 3     Small G Protein GDP Dissociation Stimulator2
Smg GDS1     KIF3AP3

External Ids:    HGNC: 170601   Entrez Gene: 229202   Ensembl: ENSG000000759457   OMIM: 6018365   UniProtKB: Q928453   

Export aliases for KIFAP3 gene to outside databases

Previous GC identifers: GC01M167519 GC01M165541 GC01M166586 GC01M167077 GC01M166622 GC01M168157 GC01M141112


(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 KIFAP3 Gene:
The small G protein GDP dissociation stimulator (smg GDS) is a regulator protein having two activities on a group
of small G proteins including the Rho and Rap1 family members and Ki-Ras; one is to stimulate their GDP/GTP
exchange reactions, and the other is to inhibit their interactions with membranes. The protein encoded by this
gene contains 9 'Armadillo' repeats and interacts with the smg GDS protein through these repeats. This protein,
which is highly concentrated around the endoplasmic reticulum, is phosphorylated by v-src, and this
phosphorylation reduces the affinity of the protein for smg GDS. It is thought that this protein serves as a
linker between human chromosome-associated polypeptide (HCAP) and KIF3A/B, a kinesin superfamily protein in the
nucleus, and that it plays a role in the interaction of chromosomes with an ATPase motor protein. Several
transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Mar 2011)

GeneCards Summary for KIFAP3 Gene: 
KIFAP3 (kinesin-associated protein 3) is a protein-coding gene. Diseases associated with KIFAP3 include kartagener syndrome, and retinitis pigmentosa, and among its related super-pathways are Immune System and Translocation of GLUT4 to the Plasma Membrane. GO annotations related to this gene include protein binding and kinesin binding.

UniProtKB/Swiss-Prot: KIFA3_HUMAN, Q92845
Function: Involved in tethering the chromosomes to the spindle pole and in chromosome movement. Binds to the tail
domain of the KIF3A/KIF3B heterodimer to form a heterotrimeric KIF3 complex and may regulate the membrane binding
of this complex (By similarity)

Gene Wiki entry for KIFAP3 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_000001.10  NT_004487.19  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KIFAP3 gene promoter:
         GR   E2F-3a   E2F-4   E2F-5   E2F-2   E2F-1   E2F   Ik-2   c-Myb   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKIFAP3 promoter sequence
   Search SABiosciences Chromatin IP Primers for KIFAP3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIFAP3


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

Entrez Gene cytogenetic band: 1q24.2   Ensembl cytogenetic band:  1q24.2   HGNC cytogenetic band: 1q24.2

KIFAP3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIFAP3 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M169890:  view genomic region     (about GC identifiers)

Start:
169,890,467 bp from pter      End:
170,054,349 bp from pter
Size:
163,883 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: KIFA3_HUMAN, Q92845 (See protein sequence)
Recommended Name: Kinesin-associated protein 3  
Size: 792 amino acids; 91205 Da
Subunit: Heterotrimer of KIFAP3, KIF3A and KIF3B. Interacts with RAP1GDS1/SMG GDS. Interacts with SMC3 subunit of
the cohesin complex
Secondary accessions: B1AKU4 B1AKU5 B2RDL1 B7Z8A3 F5H591 Q8NHU7 Q9H416
Alternative splicing: 4 isoforms:  Q92845-1   Q92845-2   Q92845-3   Q92845-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KIFAP3: NX_Q92845

Explore proteomics data for KIFAP3 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated on tyrosine residues by SRC in vitro; this reduces the binding affinity of the protein for RAP1GDS1
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q92845

  • KIFAP3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KIFAP3 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001191443.1  NP_001191445.1  NP_001191446.1  NP_055785.2  

    ENSEMBL proteins: 
     ENSP00000354560   ENSP00000356739   ENSP00000356741   ENSP00000444622   ENSP00000442712  
    Reactome Protein details: Q92845
    Human Recombinant Protein Products for KIFAP3: 
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    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:0000794condensed nuclear chromosome IDA16298999
    GO:0005783endoplasmic reticulum TAS8900189
    GO:0005813centrosome IDA16298999
    GO:0005829cytosol TAS--
    GO:0005876spindle microtubule IDA16298999

    KIFAP3 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
    4 InterPro protein domains:
     IPR011989 ARM-like
     IPR000225 Armadillo
     IPR008658 KAP3
     IPR016024 ARM-type_fold

    Graphical View of Domain Structure for InterPro Entry Q92845

    ProtoNet protein and cluster: Q92845

    2 Blocks protein domains:
    IPB000225 Armadillo repeat
    IPB008658 Kinesin-associated


    UniProtKB/Swiss-Prot: KIFA3_HUMAN, Q92845
    Similarity: Contains 5 ARM repeats


    KIFAP3 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: KIFA3_HUMAN, Q92845
    Function: Involved in tethering the chromosomes to the spindle pole and in chromosome movement. Binds to the tail
    domain of the KIF3A/KIF3B heterodimer to form a heterotrimeric KIF3 complex and may regulate the membrane binding
    of this complex (By similarity)

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005488binding ----
    GO:0005515protein binding IPI9506951
    GO:0019894kinesin binding IPI16298999
         
    KIFAP3 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for KIFAP3:
     Increased gamma-H2AX phosphory 

         13 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Kifap3):
     behavior/neurological  cardiovascular system  cellular  embryogenesis  hematopoietic system 
     homeostasis/metabolism  immune system  integument  liver/biliary system  mortality/aging 
     muscle  nervous system  respiratory system 

    KIFAP3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for KIFAP3: Kifap3tm1Ytk Kifap3tm1.1Noh

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    Inhib. RNA
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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 KIFAP3 About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Immune System
    Immune System0.56
    Adaptive Immune System0.56
    2Membrane Trafficking
    Translocation of GLUT4 to the Plasma Membrane0.32
    Membrane Trafficking0.32
    3MHC class II antigen presentation
    MHC class II antigen presentation0.32
    Kinesins0.32
    4G-protein signaling K-RAS regulation pathway
    G-protein signaling K-RAS regulation pathway0.96
    5G-protein signaling Rap1A regulation pathway
    G-protein signaling Rap1A regulation pathway0.88

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5 EMD Millipore Pathways for KIFAP3
        G-protein signaling K-RAS regulation pathway
    G-protein signaling Rap1B regulation pathway
    G-protein signaling Rap1A regulation pathway
    G-protein signaling RhoA regulation pathway
    G-protein signaling Regulation of RAC1 activity


    5 GeneGo (Thomson Reuters) Pathways for KIFAP3
        G-protein signaling Regulation of RAC1 activity
    G-protein signaling Rap1A regulation pathway
    G-protein signaling Rap1B regulation pathway
    G-protein signaling K-RAS regulation pathway
    G-protein signaling RhoA regulation pathway

    5/8        Reactome Pathways for KIFAP3 (see all 8)
        Hemostasis
    Membrane Trafficking
    Translocation of GLUT4 to the Plasma Membrane
    Adaptive Immune System
    Factors involved in megakaryocyte development and platelet production



    KIFAP3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KIFAP3

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

    5/91 Interacting proteins for KIFAP3 (Q928452, 3 ENSP000003545604) via UniProtKB, MINT, STRING, and/or I2D (see all 91)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MESTQ5EB522, 3, ENSP000002232154MINT-8263093 I2D: score=2 STRING: ENSP00000223215
    NUDT21O438092, 3MINT-8264413 I2D: score=2 
    NIPSNAP3AQ9UFN02, 3, ENSP000003638994MINT-8263808 I2D: score=2 STRING: ENSP00000363899
    APCP250543, ENSP000002574304I2D: score=4 STRING: ENSP00000257430
    SMC3Q9UQE73, ENSP000003547204I2D: score=3 STRING: ENSP00000354720
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006461protein complex assembly TAS8900189
    GO:0007017microtubule-based process ISS--
    GO:0007018microtubule-based movement TAS--
    GO:0007165signal transduction TAS8900189
    GO:0007596blood coagulation TAS--

    KIFAP3 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

    KIFAP3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for KIFAP3 (KIFA3)

    4 Novoseek inferred chemical compound relationships for KIFAP3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gdp 82.3 24 1734890 (2), 1501882 (2), 1540187 (1), 9506951 (1) (see all 10)
    gtp 71.8 21 1734890 (2), 1501882 (2), 1540187 (1), 7852400 (1) (see all 9)
    nadph 24 5 1464587 (2), 1316893 (2)
    tyrosine 0 11 8900189 (3), 9506951 (1)

    Search CenterWatch for drugs/clinical trials and news about KIFAP3 / KIFA3

    (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 KIFAP3 gene (4 alternative transcripts): 
    NM_001204514.1  NM_001204516.1  NM_001204517.1  NM_014970.3  

    Unigene Cluster for KIFAP3:

    Kinesin-associated protein 3
    Hs.433442  [show with all ESTs]
    Unigene Representative Sequence: NM_001204517
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000361580(uc001ggv.3 uc001ggw.2) ENST00000367765(uc021pep.1)
    ENST00000367767 ENST00000474292 ENST00000490550 ENST00000538366(uc010ply.2)
    ENST00000540905(uc010plx.2)
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    Additional mRNA sequence: 

    AK026471.1 AK122897.1 AK125934.1 AK297368.1 AK301912.1 AK303052.1 AK315586.1 BC028679.2 
    BC048012.1 U59919.1 

    13 DOTS entries:

    DT.416782  DT.100820883  DT.95356658  DT.97844172  DT.100723320  DT.91812322  DT.97774192  DT.102820896 
    DT.95092946  DT.92432741  DT.92432749  DT.121453806  DT.121453813 

    24/194 AceView cDNA sequences (see all 194):

    BM674276 AK122897 AU117042 AL534322 Z38322 AI671532 BM509552 CD514604 
    AI085654 T33006 BM771954 BM799533 BM701268 AU100070 BP344633 AL044699 
    NM_014970 AA309513 CK822528 AL589427 BX952059 AA326255 BX279576 AU132295 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for KIFAP3    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b
    SP1:                                                              -               
    SP2:                                                                              
    SP3:                    -                                                         
    SP4:                                                                              


    ECgene alternative splicing isoforms for KIFAP3

    (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

    KIFAP3 expression in normal human tissues (normalized intensities)      KIFAP3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCCTCAAAA
    KIFAP3 Expression
    About this image


    KIFAP3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             ganglion/cranial/facial VII   
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/nasal cavity   
     
     Spinal Cord (Nervous System)
             spinal/ganglion/dorsal root ganglion   
     
     Neural Crest (Sensory Organs)
             sensory organ/nose/vomeronasal organ   
     
     Peripheral Nervous System (Nervous System)
             spinal/ganglion/dorsal root ganglion   

    See KIFAP3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KIFAP3

    SOURCE GeneReport for Unigene cluster: Hs.433442
        SABiosciences Custom PCR Arrays for KIFAP3
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIFAP3

    (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 animals.

    Orthologs for KIFAP3 gene from 7/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kifap31 , 5 kinesin-associated protein 31, 5 89.23(n)1
    98.15(a)1
      1 (71.08 cM)5
    165791  NM_010629.21  NP_034759.11 
     1637795835 
    chicken
    (Gallus gallus)
    Aves KIFAP31 kinesin-associated protein 3 82.58(n)
    94.34(a)
      424395  XM_422239.3  XP_422239.3 
    lizard
    (Anolis carolinensis)
    Reptilia KIFAP36
    kinesin-associated protein 3
    94(a)
    1 ↔ 1
    GL343300.1(1429951-1484029)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.32172 Xenopus laevis transcribed sequence with moderate similarity more 81.17(n)    AW645628.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AI658320.12   -- 76.35(n)    AI658320.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Kap3
    Kap31
    microtubule-based movement kinesin
    motor3
    Kinesin associated protein 31
    46(a)3
    52.03(n)1
    45.19(a)1
      10B33
    320711  NM_167278.21  NP_727512.31 
    worm
    (Caenorhabditis elegans)
    Secernentea kap-11 Protein KAP-1 51(n)
    39.57(a)
      176041  NM_001026075.1  NP_001021246.1 


    ENSEMBL Gene Tree for KIFAP3 (if available)
    TreeFam Gene Tree for KIFAP3 (if available)

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

    (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

    10/3023 SNPs in KIFAP3 are shown (see all 3023)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs715576771,2
    C--141118341(+) ACACA-/CACA/ 
    CACACACA
    CACAT
    4 -- int11NA 2
    rs802287181,2
    C,F--141120078(+) CAGATG/ACTGTT 4 -- int11Minor allele frequency- A:0.50WA 2
    rs618060941,2
    C--141133674(+) CAATGA/TTATTT 4 -- int10--------
    rs109192741,2
    C,F--141142633(+) TAACCC/AACCAC 4 -- int12Minor allele frequency- A:0.50NA 4
    rs106386511,2
    C--141155844(+) CACTT-/AAA   
      T
    /AATA
    AATGT
    4 -- int11CSA 2
    rs41419181,2
    --141158656(+) GAAATA/Ttttta 4 -- int10--------
    rs113969841,2
    C--141169659(+) AAAAAA/-CAACT 4 -- int1 trp31Minor allele frequency- -:0.00NA 2
    rs675741511,2
    C--141185177(+) TAATC-/AAAGAT 4 -- int11Minor allele frequency- A:0.00CSA 2
    rs24747031,2
    C,A,H--141189694(+) AAAAGA/GAAAAA 4 -- int1 trp30--------
    rs1130830141,2
    C--141197672(+) AAAAA-/ACCCTG 4 -- int11Minor allele frequency- A:0.50CSA 2

    HapMap Linkage Disequilibrium report for KIFAP3 (169890467 - 170054349 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for KIFAP3:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2430109CNV Deletion19546169
    esv271754CNV Insertion20981092
    nsv433500CNV Loss18776910


    Human Gene Mutation Database (HGMD): KIFAP3
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing KIFAP3
    DNA2.0 Custom Variant and Variant Library Synthesis for KIFAP3

    (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: 601836    OMIM disorders: --

    11 diseases for KIFAP3:    About MalaCards
    kartagener syndrome    retinitis pigmentosa    amyotrophic lateral sclerosis    lateral sclerosis
    retinitis    t-cell leukemia    schizophrenia    prostate cancer
    prostatitis    leukemia    neuronitis

    1 disease from the University of Copenhagen DISEASES database for KIFAP3:
    Amyotrophic lateral sclerosis

    KIFAP3 for disorders           About GeneDecksing

    Genetic Association Database (GAD): KIFAP3
    Human Genome Epidemiology (HuGE) Navigator: KIFAP3 (4 documents)

    Export disorders for KIFAP3 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 KIFAP3 gene, integrated from 9 sources (see all 46):
    (articles sorted by number of sources associating them with KIFAP3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. SMAP, an Smg GDS-associating protein having arm repeats and phosphorylated by src tyrosine kinase. (PubMed id 8900189)1, 2, 3, 9 Shimizu K....Takai Y. (1996)
    2. Complex formation of SMAP/KAP3, a KIF3A/B ATPase motor-associated protein, with a human chromosome-associated polypeptide. (PubMed id 9506951)1, 2, 9 Shimizu K.... Takai Y. (1998)
    3. Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis. (PubMed id 19451621)1, 4, 9 Landers J.E....Brown R.H. (2009)
    4. Kinesin-associated protein 3 (KIFAP3) has no effect o n survival in a population-based cohort of ALS patients. (PubMed id 20566859)1, 4 Traynor B.J....ChiA^ A. (2010)
    5. Inherited genetic variant predisposes to aggressive b ut not indolent prostate cancer. (PubMed id 20080650)1, 4 Xu J....Isaacs W.B. (2010)
    6. Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation. (PubMed id 19064610)1, 4 Cheung C.L....Kung A.W. (2009)
    7. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    9. 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)
    10. Mutant SOD1 impairs axonal transport of choline acetyltransferase and acetylcholine release by sequestering KAP3. (PubMed id 19088126)1, 9 Tateno M....Araki T. (2009)

    (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: 22920 HGNC: 17060 AceView: KIFAP3 Ensembl:ENSG00000075945 euGenes: HUgn22920
    ECgene: KIFAP3 H-InvDB: KIFAP3

    (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 KIFAP3 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 KIFAP3 gene:
    Search GeneIP for patents involving KIFAP3

    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: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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