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FLASH GENE
Symbol SPRTN contributors: mct - updated : 20-06-2017
HGNC name SprT-like N-terminal domain
HGNC id 25356
Corresponding disease
RJALS Ruijs-Aalfs syndrome
Location 1q42.2      Physical location : -
Genatlas name Spartan
Synonym name
  • hypothetical protein LOC83932
  • chromosome 1 open reading frame 124
  • Synonym symbol(s) DKFZP547N043, DDDL1880, PRO4323, dJ876B10.3, RP5-876B10.3, C1orf124, DVC1
    DNA
    TYPE functioning gene
    STRUCTURE 17.09 kb     4 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 3580 55 489 - 2012 22902628
    4 - 4618 29 250 - 2012 22902628
    3 - 4489 - 207 - 2012 22902628
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouth    
    Reproductivemale systemtestis   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an UBZ4-type Ubiquitin-binding domain found predominantly in DNA repair proteins
  • a PCNA-interacting peptide motif, called a PIP box
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • is a reader of PCNA ubiquitylation and a regulator of UV-induced DNA damage response
  • recruited to sites of stalled replication via ubiquitinated PCNA and plays an important role to prevent mutations associated with replication of damaged DNA
  • recruited to sites of replication stress, a process that depends on its PCNA- and ubiquitin-interacting domains and the RAD18 PCNA ubiquitin ligase
  • cell cycle-regulated anaphase-promoting complex (APC) substrate that accumulates at stalled replication forks
  • is a DNA damage-targeting VCP adaptor that protects cells from deleterious consequences of replication blocks
  • is a regulator of cellular responses to DNA damage that prevents mutations when DNA damage occurs
  • negatively regulates error-prone translesion synthesis (TLS) that is dependent on POLD3, the accessory subunit of the replicative DNA polymerase Pol delta
  • having a function in translesional DNA synthesis and the prevention of mutagenesis
  • essential role for SPRTN in the prevention of DNA replication stress during general DNA replication and in replication-related G2/M-checkpoint regulation
  • plays a key role in maintaining structural and numerical chromosome integrity
  • is a mammalian protease required for resolving DNA-protein crosslinks
  • SPRTN accomplishes DPC processing through a unique DNA-induced protease activity, which is controlled by several sophisticated regulatory mechanisms
  • is a specialized DNA-dependent and DNA replication-coupled metalloprotease for DNA-protein crosslinks (DPCs) repair
  • represents a specialized DNA replication-coupled DPC repair pathway essential for DNA replication progression and genome stability
  • nuclear metalloprotease that is involved in the repair of DNA-protein crosslinks
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • protein that specifically recognizes ubiquitylated PCNA and plays an important role in cellular resistance to UV radiation
  • recruited to ubiquitinated PCNA
  • acts at multiple steps in TLS, stabilizes RAD18 and ubiquitinated PCNA at damage sites, and facilitates the switch from replicative to TLS polymerase to bypass DNA lesion
  • associates with DNA replication factories and localizes to sites of DNA damage in human cells
  • recruits VCP to sites of DNA damage
  • negatively regulates error-prone TLS that is dependent on POLD3
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) RJALS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    results in failure to repair DNA-protein crosslinks (DPCs) and hypersensitivity to DPC-inducing agents
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • hypomorphic mice with low amounts of Spartan are viable, and are growth retarded and develop cataracts, lordokyphosis and cachexia at a young age