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FLASH GENE
Symbol NUMA1 contributors: mct - updated : 09-09-2011
HGNC name nuclear mitotic apparatus protein 1
HGNC id 8059
Location 11q13.3      Physical location : 71.713.910 - 71.791.573
Synonym symbol(s) NUMA
DNA
TYPE functioning gene
SPECIAL FEATURE overlapping, gene in gene, opposite orientation
text overlapping and antisense to IL18BP
STRUCTURE 77.66 kb     27 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status confirmed
Physical map
LOC341140 11q13.2 similar to Actin, alpha 1, skeletal muscle DHCR7 11q13.2-q13.5 7-dehydrocholesterol reductase NADSYN1 11q13.2 NAD synthetase 1 LOC57830 11q13.2 UHS KerB KRN1 11q13.5 keratin, cuticle, ultrahigh sulphur 1 LOC390219 11 LOC390219 OR7E3P 11q13 olfactory receptor, family 7, subfamily E, member 3 pseudogene LOC255620 11q13.2 hypothetical gene supported by NM_030930; AY007125 OR7E4P 11p15 olfactory receptor, family 7, subfamily E, member 4 pseudogene FLJ10661 11q13.3 hypothetical protein FLJ10661 LOC283202 11q13.3 hypothetical LOC283202 OR7E10P 8p22 olfactory receptor, family 7, subfamily E, member 10 pseudogene RNF121 11q13.3 ring finger protein 121 IL18BP 11q13 interleukin 18 binding protein NUMA1 11q13.3-q13.5 nuclear mitotic apparatus protein 1 LOC220074 11q13.3 Hypothetical 55.1 kDa protein F09G8.5 in chromosome III FLJ20625 11q13.3 hypothetical protein FLJ20625 LOC390220 11 similar to Catechol-O-methyltransferase DKFZP564M082 11q13.3 DKFZP564M082 protein FOLR3 11q13 folate receptor 3 (gamma) LOC390221 11 similar to folate receptor 1 precursor LOC390222 11 hypothetical gene supported by U08471; Z32564; NM_000804 FOLR1 11q13.3-q13.5 folate receptor 1 (adult) FOLR2 11q13.3-q13.5 folate receptor 2 (fetal) INPPL1 11q23 inositol polyphosphate phosphatase-like 1 PHOX2A 11q13.3-q13.4 paired-like (aristaless) homeobox 2a LOC220077 11q13.3 hypothetical gene supported by AF229166 LOC390223 11 similar to Splicing factor U2AF 35 kDa subunit (U2 auxiliary factor 35 kDa subunit) (U2 snRNP auxiliary factor small subunit) SKD3 11q13.3 suppressor of potassium transport defect 3 ART2P 11q13 ADP-ribosyltransferase 2 pseudogene (RT6 antigen homolog, rat) PDE2A 11cen-q12.1 phosphodiesterase 2A, cGMP-stimulated CENTD2 11q13.3 centaurin, delta 2 STARD10 11q13 START domain containing 10
RNA
TRANSCRIPTS type messenger
text seven differents transcripts altogether encoding seven proteins (ACE/NCBI)
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
27 - 7182 - 2115 - 2011 21406448
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinelarge intestinecolon highly
Reproductivefemale systembreastmammary gland highly
 male systemprostate  highly
Respiratoryrespiratory tractlarynx  highly
cell lineage
cell lines
fluid/secretion
at STAGE
cell cycle     cell cycle, checkpoint, M exit
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a coiled-coil domain
  • a novel RXXPDG motif mediating the binding to tankyrases
    • HOMOLOGY
    Homologene
    FAMILY ezrin-radixin-moesin family
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
    intracellular,nucleus,nucleoplasm
    text
  • nuclear matrix protein in interphase and distributes to the spindle poles during mitosis
  • restricted localization of GPSM2 and NUMA1 in the lateral belt is instructive for the planar alignment of the mitotic spindle, and required for its planar maintenance
    • basic FUNCTION
  • required for spindle-pole assembly and maintenance
  • formation of spindle-poles, dynein, dynactin dependent
  • cell cycle-related protein essential for normal mitosis that is degraded in early apoptosis
  • intact NUMA1 is a structural element in maintaining nuclear integrity
  • functions as an essential tether linking bulk microtubules of the spindle to centrosomes
  • plays a specific role in the organization of the mitotic spindle
  • may provide structural support in the interphase nucleus by contributing to the organization of chromatin
  • critical functions for NUMA1, DCTN1 and GPSM2 in mammalian development
  • NUMA1, DCTN1 and GPSM2 are involved in spindle orientation regulation
  • plays a central role in the assembly and maintenance of spindle poles
  • might contribute to the maintenance of spindle morphology in somatic cell nuclear transfer embryos
    • CELLULAR PROCESS cell cycle, division, mitosis
    cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    text mitotic
    PATHWAY
    metabolism
    signaling
    nuclear biogenesis
    a component
  • part of dynactin complex required for the cytoplasmic dynein-driven movement of organelles along microtubules
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ACTR1B
  • cytoplasmic dynein, ARP1 of the dynactin complex
  • interacting with tankyrases (interaction contributing to colocalization of tankyrase and NUMA1 at mitotic spindle poles)
  • interacting with HTT (regulates spindle orientation by ensuring the proper localization of the DCTN1 subunit of dynactin, dynein and NUMA1)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   translocation    
    translocation t(11;17) (q13;q21), 5'-NUMA1-RARA-3'
    Susceptibility to breast cancer
    Variant & Polymorphism SNP A794G strong association with breast cancer risk
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS