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Aliases for UBR1 Gene

Aliases for UBR1 Gene

  • Ubiquitin Protein Ligase E3 Component N-Recognin 1 2 3
  • Ubiquitin-Protein Ligase E3-Alpha-1 3 4
  • Ubiquitin-Protein Ligase E3-Alpha-I 3 4
  • N-Recognin-1 3 4
  • JBS 3 6
  • Ubiquitin-Protein Ligase E3-Alpha 3
  • E3 Ubiquitin-Protein Ligase UBR1 3
  • Ubiquitin Ligase E3 Alpha-I 3
  • E3a Ligase 3
  • EC 6.3.2.- 4

External Ids for UBR1 Gene

Summaries for UBR1 Gene

Entrez Gene Summary for UBR1 Gene

  • The N-end rule pathway is one proteolytic pathway of the ubiquitin system. The recognition component of this pathway, encoded by this gene, binds to a destabilizing N-terminal residue of a substrate protein and participates in the formation of a substrate-linked multiubiquitin chain. This leads to the eventual degradation of the substrate protein. The protein described in this record has a RING-type zinc finger and a UBR-type zinc finger. Mutations in this gene have been associated with Johanson-Blizzard syndrome. [provided by RefSeq, Jul 2008]

GeneCards Summary for UBR1 Gene

UBR1 (Ubiquitin Protein Ligase E3 Component N-Recognin 1) is a Protein Coding gene. Diseases associated with UBR1 include urethral obstruction and johanson-blizzard syndrome. Among its related pathways are Class I MHC mediated antigen processing and presentation and Class I MHC mediated antigen processing and presentation. GO annotations related to this gene include ubiquitin-protein transferase activity and leucine binding. An important paralog of this gene is UBR3.

UniProtKB/Swiss-Prot for UBR1 Gene

  • E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation. May be involved in pancreatic homeostasis. Binds leucine and is a negative regulator of the leucine-mTOR signaling pathway, thereby controlling cell growth.

Gene Wiki entry for UBR1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UBR1 Gene

Genomics for UBR1 Gene

Genomic Location for UBR1 Gene

Start:
42,942,897 bp from pter
End:
43,106,113 bp from pter
Size:
163,217 bases
Orientation:
Minus strand

Genomic View for UBR1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for UBR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UBR1 Gene

Regulatory Elements for UBR1 Gene

Proteins for UBR1 Gene

  • Protein details for UBR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IWV7-UBR1_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase UBR1
    Protein Accession:
    Q8IWV7
    Secondary Accessions:
    • O60708
    • O75492
    • Q14D45
    • Q68DN9
    • Q8IWY6
    • Q96JY4

    Protein attributes for UBR1 Gene

    Size:
    1749 amino acids
    Molecular mass:
    200211 Da
    Quaternary structure:
    • Interacts with RECQL4.
    SequenceCaution:
    • Sequence=BAB55380.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for UBR1 Gene

    Alternative splice isoforms for UBR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UBR1 Gene

Proteomics data for UBR1 Gene at MOPED

Post-translational modifications for UBR1 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys104, Lys596, Lys806, and Lys1703

Other Protein References for UBR1 Gene

No data available for DME Specific Peptides for UBR1 Gene

Domains for UBR1 Gene

Gene Families for UBR1 Gene

HGNC:
  • UBR :Ubiquitin protein ligase E3 component n-recognins

UniProtKB/Swiss-Prot:

UBR1_HUMAN
Domain:
  • The RING-H2 zinc finger is an atypical RING finger with a His ligand in place of the fourth Cys of the classical motif:
    • Q8IWV7
  • The UBR-type zinc finger forms a pocket that mediates recognition of type 1 N-degrons. It exhibits preference for Arginine in first position, has poor affinity for histidine, and doesnt bind acetylated peptides:
    • Q8IWV7
Family:
  • Belongs to the UBR1 family.:
    • Q8IWV7
Similarity:
  • Contains 1 RING-type zinc finger.:
    • Q8IWV7
  • Contains 1 UBR-type zinc finger.:
    • Q8IWV7
genes like me logo Genes that share domains with UBR1: view

Function for UBR1 Gene

Molecular function for UBR1 Gene

UniProtKB/Swiss-Prot Function: E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation. May be involved in pancreatic homeostasis. Binds leucine and is a negative regulator of the leucine-mTOR signaling pathway, thereby controlling cell growth.

Enzyme Numbers (IUBMB) for UBR1 Gene

Gene Ontology (GO) - Molecular Function for UBR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IEA --
GO:0005515 protein binding --
GO:0008270 zinc ion binding IEA --
GO:0016874 ligase activity IEA --
GO:0070728 leucine binding IDA 20298436
genes like me logo Genes that share ontologies with UBR1: view
genes like me logo Genes that share phenotypes with UBR1: view

Animal Models for UBR1 Gene

MGI Knock Outs for UBR1:

miRNA for UBR1 Gene

No data available for Transcription Factor Targeting and HOMER Transcription for UBR1 Gene

Localization for UBR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UBR1 Gene

Cytoplasm, cytosol.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for UBR1 Gene COMPARTMENTS Subcellular localization image for UBR1 gene
Compartment Confidence
cytosol 5
plasma membrane 3
golgi apparatus 1
nucleus 1

Gene Ontology (GO) - Cellular Components for UBR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000151 ubiquitin ligase complex IEA --
GO:0000502 proteasome complex IEA --
GO:0005737 cytoplasm --
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with UBR1: view

Pathways for UBR1 Gene

genes like me logo Genes that share pathways with UBR1: view

UniProtKB/Swiss-Prot Q8IWV7-UBR1_HUMAN

  • Pathway: Protein modification; protein ubiquitination

Gene Ontology (GO) - Biological Process for UBR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006511 ubiquitin-dependent protein catabolic process IEA --
GO:0016567 protein ubiquitination IEA --
GO:0030163 protein catabolic process --
GO:0032007 negative regulation of TOR signaling IMP 20298436
GO:0071233 cellular response to leucine IDA 20298436
genes like me logo Genes that share ontologies with UBR1: view

Compounds for UBR1 Gene

(4) HMDB Compounds for UBR1 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine monophosphate
  • 5'-AMP
61-19-8
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
Phosphoric acid
  • acide phosphorique (FRENCH)
7664-38-2
Pyrophosphate
  • (4-)Diphosphoric acid ion
14000-31-8
genes like me logo Genes that share compounds with UBR1: view

Transcripts for UBR1 Gene

Unigene Clusters for UBR1 Gene

Ubiquitin protein ligase E3 component n-recognin 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for UBR1 Gene

No ASD Table

Relevant External Links for UBR1 Gene

GeneLoc Exon Structure for
UBR1
ECgene alternative splicing isoforms for
UBR1

Expression for UBR1 Gene

mRNA expression in normal human tissues for UBR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for UBR1 Gene

SOURCE GeneReport for Unigene cluster for UBR1 Gene Hs.591121

mRNA Expression by UniProt/SwissProt for UBR1 Gene

Q8IWV7-UBR1_HUMAN
Tissue specificity: Broadly expressed, with highest levels in skeletal muscle, kidney and pancreas. Present in acinar cells of the pancreas (at protein level).
genes like me logo Genes that share expressions with UBR1: view

Orthologs for UBR1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for UBR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UBR1 36
  • 98.72 (n)
  • 98.46 (a)
UBR1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia UBR1 36
  • 92.95 (n)
  • 94.28 (a)
UBR1 37
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UBR1 36
  • 93.96 (n)
  • 95.83 (a)
UBR1 37
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ubr1 36
  • 88.05 (n)
  • 92.57 (a)
Ubr1 16
Ubr1 37
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia UBR1 37
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 76 (a)
OneToMany
-- 37
  • 57 (a)
OneToMany
-- 37
  • 62 (a)
OneToMany
-- 37
  • 74 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Ubr1 36
  • 88.22 (n)
  • 92.17 (a)
chicken
(Gallus gallus)
Aves UBR1 36
  • 75.88 (n)
  • 77.8 (a)
UBR1 37
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UBR1 37
  • 75 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.7516 36
tropical clawed frog
(Silurana tropicalis)
Amphibia ubr1 36
  • 66.46 (n)
  • 64.1 (a)
zebrafish
(Danio rerio)
Actinopterygii ubr1 36
  • 60.68 (n)
  • 56.79 (a)
ubr1 37
  • 55 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG9086 37
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ubr-1 37
  • 26 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UBR1 37
  • 15 (a)
ManyToMany
UBR2 37
  • 16 (a)
ManyToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU03234 36
  • 40.27 (n)
  • 28.88 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ubr1 36
  • 42.82 (n)
  • 28.78 (a)
Species with no ortholog for UBR1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for UBR1 Gene

ENSEMBL:
Gene Tree for UBR1 (if available)
TreeFam:
Gene Tree for UBR1 (if available)

Paralogs for UBR1 Gene

Paralogs for UBR1 Gene

Selected SIMAP similar genes for UBR1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with UBR1: view

Variants for UBR1 Gene

Sequence variations from dbSNP and Humsavar for UBR1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs998954 -- 42,988,571(-) ggcac(A/G)gtgga intron-variant
rs1037990 -- 43,007,489(-) CACTT(A/G)GCAAC intron-variant
rs1115752 -- 43,008,863(-) CCAGA(A/G)TGGGT intron-variant
rs1381855 -- 42,971,807(+) ATGAT(A/G)AGTTT intron-variant
rs1381856 -- 42,972,019(+) CCACA(C/T)CATTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for UBR1 Gene

Variant ID Type Subtype PubMed ID
nsv525461 CNV Loss 19592680
nsv904134 CNV Gain 21882294
nsv515876 CNV Gain+Loss 19592680
nsv904135 CNV Loss 21882294
dgv2368n71 CNV Loss 21882294
dgv2369n71 CNV Loss 21882294
nsv904138 CNV Gain+Loss 21882294
nsv904146 CNV Gain 21882294
nsv904147 CNV Loss 21882294
nsv1511 CNV Insertion 18451855

Relevant External Links for UBR1 Gene

HapMap Linkage Disequilibrium report
UBR1
Human Gene Mutation Database (HGMD)
UBR1

Disorders for UBR1 Gene

(1) OMIM Diseases for UBR1 Gene (605981)

UniProtKB/Swiss-Prot

UBR1_HUMAN
  • Johanson-Blizzard syndrome (JBS) [MIM:243800]: This disorder includes congenital exocrine pancreatic insufficiency, multiple malformations such as nasal wing aplasia, and frequent mental retardation. Pancreas of individuals with JBS do not express UBR1 and show intrauterine-onset destructive pancreatitis. {ECO:0000269 PubMed:16311597}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for UBR1

Genetic Association Database (GAD)
UBR1
Human Genome Epidemiology (HuGE) Navigator
UBR1
genes like me logo Genes that share disorders with UBR1: view

Publications for UBR1 Gene

  1. Lack of association of genetic variation in chromosome region 15q14-22.1 with type 2 diabetes in a Japanese population. (PMID: 18366806) Yamaguchi Y. … Itakura M. (BMC Med. Genet. 2008) 3 23 49
  2. Role of N-end rule ubiquitin ligases UBR1 and UBR2 in regulating the leucine-mTOR signaling pathway. (PMID: 20298436) Kume K. … Handa H. (Genes Cells 2010) 3 4 23
  3. The mouse and human genes encoding the recognition component of the N-end rule pathway. (PMID: 9653112) Kwon Y.T. … Varshavsky A. (Proc. Natl. Acad. Sci. U.S.A. 1998) 2 3 4
  4. Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. (PMID: 12434312) Dgany O. … Tamary H. (Am. J. Hum. Genet. 2002) 3 4
  5. RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway. (PMID: 15317757) Yin J. … Wang W. (Hum. Mol. Genet. 2004) 3 4

Products for UBR1 Gene

Sources for UBR1 Gene

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