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FLASH GENE
Symbol KIFAP3 contributors: mct - updated : 07-09-2016
HGNC name kinesin-associated protein 3
HGNC id 17060
Location 1q24.2      Physical location : 169.890.471 - 170.043.879
Synonym name
  • small G protein GDP dissociation stimulator
  • Smg GDS-associated protein
  • Synonym symbol(s) GDS, KAP3, SMAP, FLJ22818, KIF3AP, SMAP, Smg-GDS, dJ190I16.1
    DNA
    TYPE functioning gene
    STRUCTURE 153.41 kb     20 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC391131 1 similar to glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 XCL2 1q23-q25 chemokine (C motif) ligand 2 XCL1 1q23 chemokine (C motif) ligand 1 DPT 1q12-q23 dermatopontin MGC4473 1q23.3 hypothetical protein MGC4473 LOC391132 1 similar to ribosomal protein L29 ATP1B1 1q23.2-q23.3 ATPase, Na+/K+ transporting, beta 1 polypeptide NME7 1q24 non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase) BLZF1 1q24-q25 basic leucine zipper nuclear factor 1 (JEM-1) LOC57821 1q24 hypothetical protein LOC57821 SLC19A2 1q23.2-q23.3 solute carrier family 19 (thiamine transporter), member 2 F5 1q23.2-q23.3 coagulation factor V (proaccelerin, labile factor) SELP 1q23.2-q41.2 selectin P (granule membrane protein 140kDa, antigen CD62) SELL 1q23.2-q23.3 selectin L (lymphocyte adhesion molecule 1) SELE 1q23.2-q23.1 selectin E (endothelial adhesion molecule 1) MGC9084 1q23.3 hypothetical protein MGC9084 FLJ10706 1q23.3 hypothetical protein FLJ10706 PACE-1 1q23.3 ezrin-binding partner PACE-1 KIFAP3 1q23.2 kinesin-associated protein 3 MRPS10P1 1q23.2 mitochondrial ribosomal protein S10 pseudogene 1 LOC149281 1q23.3 similar to AD-003 protein LOC388713 1 LOC388713 FLJ11752 1q23.3 NTKL-binding protein 1 PRRX1 1q23-1q25 paired related homeobox 1 LOC391133 1 similar to hypothetical protein BC015183 FMO3 1q23-q24 flavin containing monooxygenase 3 LOC388714 1 similar to Putative dimethylaniline monooxygenase [N-oxide forming] 6 (Flavin-containing monooxygenase 6) (FMO 6) (Dimethylaniline oxidase 6) FMO2 1q23-q25 flavin containing monooxygenase 2
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    20 - 2997 - 792 - 2009 19451621
    19 - 2879 - 748 - 2009 19451621
    21 - 3175 - 714 - 2009 19451621
    - - 4120 - 752 - 2009 19451621
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   highly
     spinal cord    
    Reproductivefemale systemuterus  highly
     male systemtestis  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • nine Armadillo repeats
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY adaptor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule
    intracellular,cytoplasm,cytoskeleton,microfilament
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • linker between CSPG6 and KIF3A/B in the nucleus
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
  • complexing with CSPG6, SMC1L1 and kinesins
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • Smg CDS protein through Armadillo repeats
  • interaction with ATPase motor proteins
  • TRIM60 most likely interacted with KIF3A-KIF3B independent of the adaptor kinesin-associated protein KIFAP3
  • GLI1, GLI2, GLI3 interacts synergistically with KIFAP3 and KIF3A
  • GLI1 interactions with KIF3A-KIF3B-KIFAP3 complexes are essential for proper GLI1 transcriptional activity
  • PKP4 directly interacts with the KIF3/subunit KIF3B, and also interacts with the kinesin cargo adaptor protein KIFAP3 acting as a stabilizing linker between KIF3B and its KIFAP3 cargo binding entity
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to sporadic amyotrophic lateral sclerosis (ALS)
    Variant & Polymorphism SNP
  • associated with decreased KIFAP3 expression and increased survival in sporadic ALS
  • SNP rs1541160 within the KIFAP3 gene is a potential modifier of the ALS phenotype
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS