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FLASH GENE
Symbol HUNK contributors: mct - updated : 24-12-2009
HGNC name hormonally upregulated Neu-associated kinase
HGNC id 13326
Location 21q22.11      Physical location : 33.245.627 - 33.376.376
Synonym name serine/threonine-protein kinase MAK-V
Synonym symbol(s) MAKV, B19, BSTK
EC.number 2.7.11.1
DNA
TYPE functioning gene
STRUCTURE 130.75 kb     11 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
KRTAP8P1 21q22.1 keratin associated protein 8 pseudogene 1 KRTAP8P2 21q22.1 keratin associated protein 8 pseudogene 2 UBE3AP2 21q21.3 ubiquitin protein ligase E3A pseudogene 2 TIAM1 21q22.1 T-cell lymphoma invasion and metastasis 1 LOC150051 21q22.11 hypothetical LOC150051 FBXW1BP1 21q22.11 F-box and WD-40 domain protein 1B pseudogene 1 SOD1 21q22.1 superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult)) HMG14P 21q22.11 high-mobility group (nonhistone chromosomal) protein 14 pseudogene HUNK 21q22.1 hormonally upregulated Neu-associated kinase C21orf45 21q22.11 chromosome 21 open reading frame 45 C21orf61 21q22.1 chromosome 21 open reading frame 61 C21orf119 21 chromosome 21 open reading frame 119 C21orf63 21q22.11 chromosome 21 open reading frame 63 C21orf77 21q22.11 chromosome 21 open reading frame 7 TCP10L 21q22.11 t-complex 10 (mouse)-like C21orf59 21q22.1 chromosome 21 open reading frame 59 LOC391279 21 similar to putative taste receptor HTR2 SYNJ1 21q22.1-q22.2 synaptojanin 1 C21orf66 21q22.11 chromosome 21 open reading frame 66 C21orf62 21q22.1 chromosome 21 open reading frame 62
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
11 - 7385 80 714 - 2000 10662544
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Reproductivefemale systembreastmammary gland   Homo sapiens
UrinarykidneytubuleHenles loopHL ascending limb 
 kidneytubuleconvoluted tubuledistal tubule  Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Nervouscentral    Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo
Text mammary gland, central nervous system, distal conoluted tubule, ascending limbs
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • SNF1 homology domain (SNH)
  • a 260-AAs domain predicted to have serine/threonine kinase activity
  • HOMOLOGY
    Homologene
    FAMILY
  • protein kinase superfamily
  • CAMK Ser/Thr protein kinase family
  • Snf1/AMPK family of kinases
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,nucleus
    text nucleocytoplasmic distribution and is localized to the centrosome, as indicated by co-localization with gamma-tubulin
    basic FUNCTION
  • could be regulating exocytosis and involved in disorders of the nervous system, development or in malignancies
  • involved in mammary development and carcinogenesis in mouse, SNF1-related
  • possible involvement in proliferative suppression of renal tubular cells
  • nuclear and centrosomal targeting is specific, and is likely to be coupled to its catalytic activity
  • may contribute to changes in the mammary gland that occur during pregnancy in response to ovarian hormones
  • its kinase activity is required for mammary tumor cells to gain access to the circulation and metastasize
  • metastasis suppressor for the basal breast cancer subtype
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with Rabaptin-5, a protein which plays an important role in endocytosis
  • disrupts the ability of PPP2R4 to bind to CFL1 while sparing its capacity to bind to other substrates such as ERK or AKT
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in aggressive subsets of carcinomas of the ovary, colon, and breast
    constitutional     --over  
    sustained the constitutive phosphorylation and inactivation of cofilin-1 (CFL1), thereby blocking the incorporation of new actin monomers into actin filaments
    tumoral     --low  
    is necessary for basal cancer cell metastasis
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target target for anti-neoplastic therapy
    ANIMAL & CELL MODELS