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FLASH GENE
Symbol HNRNPU contributors: mct - updated : 14-02-2018
HGNC name heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)
HGNC id 5048
Corresponding disease
DEL1Q44 chromosome 1q44 microdeletion syndrome
EIEE54 epileptic encephalopathy, early infantile, 54
Location 1q44      Physical location : 245.013.601 - 245.027.827
Synonym name
  • hnRNP U protein
  • p120 nuclear protein
  • scaffold attachment factor A
    • Synonym symbol(s) SAF-A, U21.1, p120, pp120, SP120, GRIP120-AS1, SAFA, U21.1, hnRNP U
    DNA
    TYPE functioning gene
    STRUCTURE 14.22 kb     14 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 splicing 6846 90.5 825 ubiquitous 1992 1628625
    14 splicing 6789 88.9 806 ubiquitous 1992 1628625
    lacking 54 bases in the coding region compared to variant 1 but maintaining the same reading frame
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES acid
    STRUCTURE
    motifs/domains
  • ASP/GLU (acidic) rich domain
  • SAP domain
  • a poly Glu domain
  • Gln rich domain
  • ATP binding domain
  • Gly rich domain with RNA binding domain( RGG-box) and poly Gly domain
  • nuclear localization signal
  • The C-terminal 187-AAs domain was necessary and sufficient for the association with both TOP2B and the endogenous RNA
    • conjugated RiboP , PhosphoP
    mono polymer complex
    HOMOLOGY
    interspecies ortholog to murine Hnrpu
    homolog to rattus Hnrpu
    homolog to Xenopus Xl.8951
    homolog to C.elegans Y41E3.11
    Homologene
    FAMILY
    CATEGORY DNA associated , RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    intracellular,nucleus,chromatin/chromosome,nucleosome
    intracellular,nucleus,chromatin/chromosome,kinetochore
    text
  • during mitosis, localized at the spindles, spindle midzone and cytoplasmic bridge
  • colocalized with TPX2 and AURKA in spindle poles and Microtubules
    • basic FUNCTION
  • involved RNA processing
  • abundant nuclear protein that interacts specifically with nuclear matrix attachment region DNA (MAR) and RNA as a component of hnRNPs
  • contributes to the attachment of spindle microtubules (MTs) to kinetochores and spindle organization
  • is a novel spindle regulator that plays an essential role in kinetochore-Microtubule attachment and mitotic spindle organization
  • implicated in diverse pathways from transcriptional regulation to telomere length control to X inactivation
  • potent regulator of nuclear ribonucleoprotein particles in diverse gene expression pathways
  • HNRNPU is essential for H19-mediated transcription repression
  • essential role of HNRNU in heart development and function and in the regulation of alternative splicing
  • contributes to stabilize the kinetochore-microtubule interaction during mitosis
    • CELLULAR PROCESS cell life, cell death/apoptosis
    nucleotide, chromatin organization
    protein, post translation, targeting
    cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding to double stranded and single stranded DNA
    high affinity for scaffold attached-region (SAR) DNA
    RNA binding to pre-mRNA
    small molecule nucleotide,
  • ATP
    • protein
  • binding to caspase 3, BTRC, p300
  • ASH2L is recruited by XIST concomitantly with HNRNPU and macroH2A at the transition to inactive X chromosome maintenance
  • TOP2B associates stoichiometrically with HNRNPU in the presence of RNA
  • interacts with the C-terminal domain (CTD) of endogenous RNA polymerase II and the interaction is independent of CTD phosphorylation and mRNA
  • can bind to MTs (Microtubules) and contributes to the targeting of AURKA to mitotic spindle MTs
  • HNRNPU interacts with CENPW, and the interaction between HNRNPU and CENPW mutually increased each other's protein stability by inhibiting the proteasome-mediated degradation
  • originally identified as a structural nuclear protein, interacts with chromatin-associated RNAs (caRNAs) via its RGG domain to regulate interphase chromatin structures in a transcription-dependent manner
    • cell & other
    REGULATION
    Phosphorylated by PRKDC (phosphorylated at Ser59 by PRKDC in cells in response to DNA double-strand breaks and phosphorylation of HNRNPU suggests novel functions for PRKDC in the response to DNA damage)
    ASSOCIATED DISORDERS
    corresponding disease(s) DEL1Q44 , EIEE54
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice lacking the heterogeneous nuclear ribonucleoprotein U (hnRNPU) in the heart develop lethal dilated cardiomyopathy and display numerous defects in cardiac pre-mRNA splicing