Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol UBR1 contributors: mct/npt - updated : 16-02-2009
HGNC name ubiquitin protein ligase E3 component n-recognin 1
HGNC id 16808
Corresponding disease
JBS Johanson-Blizzard syndrome
Location 15q15.2      Physical location : 43.235.102 - 43.398.286
Synonym name
  • N-recognin-1
  • ubiquitin ligase E3 alpha-I
  • Synonym symbol(s) JBS, MGC142065, MGC142067
    EC.number 6.3.2.-
    DNA
    TYPE functioning gene
    STRUCTURE 163.19 kb     47 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - D15S760 - D15S748 - UBR1 - D15S759 - D15S508 - qter
    Physical map
    FLJ45651 15q14 FLJ45651 protein LOC388117 15 LOC388117 cPLA2delta LOC255189 15q14 hypothetical protein LOC255189 VPS39 15q14-q15 vacuolar protein sorting 39 (yeast) DKFZP564G2022 15q14 DKFZP564G2022 protein GANC 15q15.1-q15.2 glucosidase, alpha; neutral C CAPN3 15q15.1-q15.3 calpain 3, (p94) ZFP106 15q14 zinc finger protein 106 homolog (mouse) SNAP23 15q14-q15.1 synaptosomal-associated protein, 23kDa FLJ36812 15q14 hypothetical protein FLJ36812 FLJ10460 15q14 hypothetical protein FLJ10460 LOC390579 15 similar to myosin regulatory light chain-like LOC388118 15 similar to kinesin-like protein STARD9 15q14 START domain containing 9 CDAN1 15q14-q15 congenital dyserythropoietic anemia, type I TTBK2 15q14 tau tubulin kinase 2 LOC390580 15 similar to Ac2-125 UBR1 15q15-q21.1 ubiquitin protein ligase E3 component n-recognin 1 LOC146053 15q14 similar to ribosomal protein S3a; 40S ribosomal protein S3a; v-fos transformation effector protein 1 LOC255320 15q15.1 similar to Microsomal signal peptidase 25 kDa subunit (SPase 25 kDa subunit) (SPC25) FLJ23375 15q15.1 hypothetical protein FLJ23375 CCNDBP1 15q14-q15 cyclin D-type binding-protein 1 EPB42 15q15 erythrocyte membrane protein band 4.2 TGM5 15q15.2 transglutaminase 5 LOC390581 15 similar to ATP synthase, H+ transporting, mitochondrial F0 complex, subunit d; ATP synthase, H+ transporting, mitochondrial F1F0, subunit d TGM7 15q15.2 similar to ATP synthase, H+ transporting, mitochondrial F0 complex, subunit d; ATP synthase, H+ transporting, mitochondrial F1F0, subunit d LCMT2 15q14 leucine carboxyl methyltransferase 2 LOC161823 15q15.1 similar to Adenosine deaminase CG11994-PA FLJ35867 15q15.1 hypothetical protein FLJ35867 76P 15q15 gamma tubulin ring complex protein (76p gene) TP53BP1 15q15-q21 tumor protein p53 binding protein, 1 MAP1A 15q13-qter microtubule-associated protein 1A KIAA0377 15q15-q21.2 microtubule-associated protein 1A CKMT1 15q15 creatine kinase, mitochondrial 1 (ubiquitous) STRC 15q15.3 stereocilin CATSPER2 15q13-q15 cation channel, sperm associated 2 GRP58 15q15 glucose regulated protein, 58kDa ELL3 15q15.1 elongation factor RNA polymerase II-like 3 SERF2 15q13.1 small EDRK-rich factor 2 HYPK 15q14 small EDRK-rich factor 2 MFAP1 15q15-q21 microfibrillar-associated protein 1 FLJ12973 15q15.1 hypothetical protein FLJ12973
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    47 - 7758 200 1749 - Beausoleil (2004)
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivemale systemprostate  highly
     male systemtestis  predominantly
    Respiratoryrespiratory tractlarynx  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Reproductivespermatogonia
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text pancreas
    PROTEIN
    PHYSICAL PROPERTIES Amphiphilic
    STRUCTURE
    motifs/domains
  • N-recognin called E3-alpha domain
  • one UBR1-type zinc finger, 70-AAs UBR box functioning as a common structural element essential for binding to all known destabilizing N-terminal residues (Tasaki 2009)
  • a RING-H2 domain
  • a BRR (basic residues rich) region
  • HOMOLOGY
    interspecies ortholog to murine Ubr1
    homolog to chimpanzee LOC453369
    Homologene
    FAMILY
  • UBR1 family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • ubiquitin ligase binding to proteins bearing amino-terminal residues that are destabilizing according to the n-end rule, but does not bind to otherwise identical proteins bearing stabilizing amino-terminal residues
  • having a critical role for the regulation of FOS (Sasaki 2006)
  • also participates in H2A ubiquitination during meiosis (An2010)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Zn2+
  • protein
  • complexing with RECQL4 in both nucleus and cytoplasm
  • cell & other
    REGULATION
    induced by STAT3 (Sasaki 2006)
    ASSOCIATED DISORDERS
    corresponding disease(s) JBS
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS