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Aliases for UBR1 Gene

Aliases for UBR1 Gene

  • Ubiquitin Protein Ligase E3 Component N-Recognin 1 2 3 5
  • RING-Type E3 Ubiquitin Transferase UBR1 3 4
  • Ubiquitin-Protein Ligase E3-Alpha-1 3 4
  • Ubiquitin-Protein Ligase E3-Alpha-I 3 4
  • N-Recognin-1 3 4
  • Ubiquitin-Protein Ligase E3-Alpha 3
  • E3 Ubiquitin-Protein Ligase UBR1 3
  • Ubiquitin Ligase E3 Alpha-I 3
  • EC 4
  • E3a Ligase 3
  • JBS 3

External Ids for UBR1 Gene

Previous GeneCards Identifiers for UBR1 Gene

  • GC15M038676
  • GC15M036130
  • GC15M040814
  • GC15M040953
  • GC15M041024
  • GC15M043235
  • GC15M020083

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 Johanson-Blizzard Syndrome and Urethral Obstruction Sequence. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include ligase activity and leucine binding. An important paralog of this gene is UBR2.

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

Additional gene information for UBR1 Gene

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

Genomics for UBR1 Gene

GeneHancer (GH) Regulatory Elements for UBR1 Gene

Promoters and enhancers for UBR1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15I043103 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.7 681 3.4 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 YY1 POLR2B E2F8 ZNF207 UBR1 CCNDBP1 TTBK2 CDAN1 CATSPER2P1 ZSCAN29 EPB42 FDPSP4
GH15I043508 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.6 -404.0 -404018 3.5 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B E2F8 TP53BP1 MAP1A GC15M043498 ZSCAN29 CTDSPL2 ADAL CDAN1 LRRC57 LCMT2 UBR1
GH15I043491 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 13.7 -387.1 -387120 3.2 PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 POLR2B TP53BP1 ZSCAN29 ADAL TGM7 CTDSPL2 MFAP1 UBR1 TUBGCP4 CDAN1 GC15M043494
GH15I043122 Promoter/Enhancer 1.4 Ensembl ENCODE 10.2 -17.0 -16952 1.7 PKNOX1 ATF1 SIN3A BRCA1 YY1 GLIS2 ATF7 MCM3 SP3 RXRA TMEM62 LRRC57 RPS3AP47 GANC WDR76 LOC105370795 TMEM87A CDAN1 VPS39 SNAP23
GH15I042139 Enhancer 0.9 ENCODE 13.7 +967.0 966955 0.2 FOXA2 ARID4B ZBTB7B ZNF48 CEBPZ SP5 MXD4 MIER2 PPARG KAT8 RPAP1 MGA UBR1 GANC PLA2G4D CAPN3 PLA2G4F
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around UBR1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the UBR1 gene promoter:

Genomic Locations for UBR1 Gene

Genomic Locations for UBR1 Gene
163,217 bases
Minus strand

Genomic View for UBR1 Gene

Genes around UBR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UBR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UBR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UBR1 Gene

Proteins for UBR1 Gene

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

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

    Protein attributes for UBR1 Gene

    1749 amino acids
    Molecular mass:
    200211 Da
    Quaternary structure:
    • Interacts with RECQL4.
    • 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


neXtProt entry for UBR1 Gene

Post-translational modifications for UBR1 Gene

  • Ubiquitination at posLast=104104, posLast=596596, isoforms=806, and isoforms=1703
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for UBR1 Gene

Domains & Families for UBR1 Gene

Gene Families for UBR1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for UBR1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • The RING-H2 zinc finger is an atypical RING finger with a His ligand in place of the fourth Cys of the classical motif.
  • Belongs to the UBR1 family.
  • The RING-H2 zinc finger is an atypical RING finger with a His ligand in place of the fourth Cys of the classical motif.
  • 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.
  • Belongs to the UBR1 family.
genes like me logo Genes that share domains with UBR1: view

Function for UBR1 Gene

Molecular function for UBR1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.
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

Phenotypes From GWAS Catalog 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 IPI 16169070
GO:0008270 zinc ion binding IEA --
GO:0016740 transferase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with UBR1: view
genes like me logo Genes that share phenotypes with UBR1: view

Human Phenotype Ontology for UBR1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for UBR1 Gene

MGI Knock Outs for UBR1:

Clone Products

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

Localization for UBR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UBR1 Gene

Cytoplasm, cytosol.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UBR1 gene
Compartment Confidence
cytosol 4
plasma membrane 3
nucleus 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for UBR1 Gene

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

Pathways & Interactions 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.

SIGNOR curated interactions for UBR1 Gene


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 IEA --
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

Drugs & Compounds for UBR1 Gene

(3) Drugs for UBR1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
ATP Investigational Nutra Agonist 0

(1) Additional Compounds for UBR1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
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:

Clone Products

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

No ASD Table

Relevant External Links for UBR1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for UBR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for UBR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for UBR1 Gene

This gene is overexpressed in Plasma (21.5), Peripheral blood mononuclear cells (10.9), and Lymph node (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for UBR1 Gene

Protein tissue co-expression partners for UBR1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of UBR1 Gene:


SOURCE GeneReport for Unigene cluster for UBR1 Gene:


mRNA Expression by UniProt/SwissProt for UBR1 Gene:

Tissue specificity: Broadly expressed, with highest levels in skeletal muscle, kidney and pancreas. Present in acinar cells of the pancreas (at protein level).

Evidence on tissue expression from TISSUES for UBR1 Gene

  • Nervous system(4.5)
  • Blood(4.3)
  • Heart(4.3)
  • Liver(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for UBR1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • hypothalamus
  • jaw
  • lacrimal apparatus
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pituitary gland
  • scalp
  • skull
  • thyroid
  • tooth
  • breast
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • anus
  • ovary
  • pelvis
  • penis
  • rectum
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with UBR1: view

No data available for mRNA differential expression in normal tissues for UBR1 Gene

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
(Pan troglodytes)
Mammalia UBR1 33 34
  • 98.72 (n)
(Canis familiaris)
Mammalia UBR1 33 34
  • 93.96 (n)
(Bos Taurus)
Mammalia UBR1 33 34
  • 92.95 (n)
(Rattus norvegicus)
Mammalia Ubr1 33
  • 88.22 (n)
(Mus musculus)
Mammalia Ubr1 33 16 34
  • 88.05 (n)
(Monodelphis domestica)
Mammalia UBR1 34
  • 81 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 76 (a)
-- 34
  • 74 (a)
-- 34
  • 62 (a)
-- 34
  • 57 (a)
(Gallus gallus)
Aves UBR1 33 34
  • 75.88 (n)
(Anolis carolinensis)
Reptilia UBR1 34
  • 75 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ubr1 33
  • 66.46 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.7516 33
(Danio rerio)
Actinopterygii ubr1 33 34
  • 60.68 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9086 34
  • 30 (a)
(Caenorhabditis elegans)
Secernentea ubr-1 34
  • 26 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UBR2 34
  • 16 (a)
UBR1 34
  • 15 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ubr1 33
  • 42.82 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03234 33
  • 40.27 (n)
Species where no ortholog for UBR1 was found in the sources mined by GeneCards:
  • 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

Gene Tree for UBR1 (if available)
Gene Tree for UBR1 (if available)

Paralogs for UBR1 Gene

Paralogs for UBR1 Gene

(2) 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 Variation AA Info Type
rs119477054 pathogenic, Johanson-Blizzard syndrome, Johanson-Blizzard syndrome (JBS) [MIM:243800] 43,082,648(-) T/A/C coding_sequence_variant, missense_variant
rs119477055 pathogenic, Johanson-Blizzard syndrome 43,048,394(-) G/A coding_sequence_variant, stop_gained
rs140972409 Johanson-Blizzard syndrome (JBS) [MIM:243800] 42,976,795(-) A/G coding_sequence_variant, missense_variant
rs142285781 uncertain-significance, not provided, not specified 43,007,204(-) G/A coding_sequence_variant, missense_variant
rs768686147 likely-pathogenic, not provided, Johanson-Blizzard syndrome (JBS) [MIM:243800] 43,043,376(-) G/T coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
dgv4500n54 CNV loss 21841781
esv3636283 CNV gain 21293372
esv3636285 CNV gain 21293372
esv3892680 CNV loss 25118596
nsv1036512 CNV gain 25217958
nsv1048937 CNV gain 25217958
nsv1511 CNV insertion 18451855
nsv475705 CNV novel sequence insertion 20440878
nsv515876 CNV gain+loss 19592680
nsv525461 CNV loss 19592680
nsv569241 CNV loss 21841781

Variation tolerance for UBR1 Gene

Residual Variation Intolerance Score: 3.09% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.84; 67.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UBR1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UBR1 Gene

Disorders for UBR1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for UBR1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
johanson-blizzard syndrome
  • jbs
urethral obstruction sequence
  • early urethral obstruction sequence
exocrine pancreatic insufficiency
rapadilino syndrome
  • absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate
- elite association - COSMIC cancer census association via MalaCards
Search UBR1 in MalaCards View complete list of genes associated with diseases


  • 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, ECO:0000269 PubMed:21931868, ECO:0000269 PubMed:22072859, ECO:0000269 PubMed:24599544, ECO:0000269 PubMed:26149651}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for UBR1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with UBR1: view

No data available for Genatlas for UBR1 Gene

Publications for UBR1 Gene

  1. Role of N-end rule ubiquitin ligases UBR1 and UBR2 in regulating the leucine-mTOR signaling pathway. (PMID: 20298436) Kume K … Handa H (Genes to cells : devoted to molecular & cellular mechanisms 2010) 3 4 22 58
  2. 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 medical genetics 2008) 3 22 44 58
  3. The mouse and human genes encoding the recognition component of the N-end rule pathway. (PMID: 9653112) Kwon YT … Varshavsky A (Proceedings of the National Academy of Sciences of the United States of America 1998) 2 3 4 58
  4. Mutations in the human UBR1 gene and the associated phenotypic spectrum. (PMID: 24599544) Sukalo M … Zenker M (Human mutation 2014) 3 4 58
  5. Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome. (PMID: 21931868) Hwang CS … Zenker M (PloS one 2011) 3 4 58

Products for UBR1 Gene

Sources for UBR1 Gene

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