This gene encodes a UBR box-containing protein that belongs to the E3 ubiquitin ligase family. The protein also contains a plant homeodomain (PHD) in the C-terminus. In mammals, the encoded protein recognizes N-degrons, the destabilizing N-terminal residues of short-lived proteins, which results in ubiquitinylation, and proteolysis via the proteasome. [provided by RefSeq, Jul 2... See more...

Aliases for UBR7 Gene

Aliases for UBR7 Gene

  • Ubiquitin Protein Ligase E3 Component N-Recognin 7 2 3 5
  • Ubiquitin Protein Ligase E3 Component N-Recognin 7 (Putative) 2 3
  • Putative E3 Ubiquitin-Protein Ligase UBR7 3 4
  • RING-Type E3 Ubiquitin Transferase UBR7 3 4
  • N-Recognin-7 3 4
  • C14orf130 3 4
  • Chromosome 14 Open Reading Frame 130 2
  • EC 2.3.2.27 4
  • UBR7 5

External Ids for UBR7 Gene

Previous HGNC Symbols for UBR7 Gene

  • C14orf130

Previous GeneCards Identifiers for UBR7 Gene

  • GC14P092744
  • GC14P093673
  • GC14P073853

Summaries for UBR7 Gene

Entrez Gene Summary for UBR7 Gene

  • This gene encodes a UBR box-containing protein that belongs to the E3 ubiquitin ligase family. The protein also contains a plant homeodomain (PHD) in the C-terminus. In mammals, the encoded protein recognizes N-degrons, the destabilizing N-terminal residues of short-lived proteins, which results in ubiquitinylation, and proteolysis via the proteasome. [provided by RefSeq, Jul 2016]

GeneCards Summary for UBR7 Gene

UBR7 (Ubiquitin Protein Ligase E3 Component N-Recognin 7) is a Protein Coding gene. Diseases associated with UBR7 include Li-Campeau Syndrome and Johanson-Blizzard Syndrome. Gene Ontology (GO) annotations related to this gene include ligase activity and ubiquitin-protein transferase activity. An important paralog of this gene is ENSG00000259066.

UniProtKB/Swiss-Prot Summary for UBR7 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.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UBR7 Gene

Genomics for UBR7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for UBR7 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J093205 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 -0.3 -340 4.2 ZSCAN16 TBP ZBTB10 MXD4 SP1 NR2C1 MNT IKZF1 SMAD5 ETS1 GON7 HSALNG0103303 UBR7 MOAP1 TMEM251 UNC79 PPP4R4 RF00017-1662 ENSG00000259066 HSALNG0103299
GH14J093857 Enhancer 0.8 Ensembl ENCODE 11.2 +651.9 651860 5 ZIC2 ZNF341 ZNF658 ZNF624 ZNF189 ZNF664 NFIB ZNF785 ZSCAN4 CTCF BTBD7 UBR7 piR-31292-061 HSALNG0103322 FAM181A PRIMA1
GH14J094049 Enhancer 0.6 Ensembl 11.2 +841.9 841909 0.9 ZNF571 ZNF624 LCORL ZNF350 NFIB KLF10 ZNF544 ZNF660 ZNF112 POLR2A DDX24 UBR7 lnc-IFI27L2-3 OTUB2 HSALNG0103342
GH14J093298 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 5 +97.3 97260 12.6 ZSCAN16 MAFF ZNF146 ZNF316 PRDM6 JUND ZNF2 MAFK ZNF24 SCRT1 BTBD7 UNC79 COX8C UBR7 PRIMA1 HSALNG0103309 HE855966
GH14J093322 Enhancer 0.8 ENCODE dbSUPER 4.6 +116.5 116538 2.1 ZNF316 NFE2 RAD51 EP400 ZNF362 MAFG MAFF ATF2 HDAC1 MEIS2 COX8C UNC79 OTUB2 UBR7 BTBD7 HSALNG0103309 HSALNG0103310 HE855966
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UBR7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UBR7

Top Transcription factor binding sites by QIAGEN in the UBR7 gene promoter:
  • AREB6
  • Evi-1
  • GATA-2
  • Pax-3
  • POU2F1a
  • RSRFC4
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT3

Genomic Locations for UBR7 Gene

Latest Assembly
chr14:93,207,241-93,229,215
(GRCh38/hg38)
Size:
21,975 bases
Orientation:
Plus strand

Previous Assembly
chr14:93,673,601-93,695,561
(GRCh37/hg19 by Entrez Gene)
Size:
21,961 bases
Orientation:
Plus strand

chr14:93,673,401-93,695,561
(GRCh37/hg19 by Ensembl)
Size:
22,161 bases
Orientation:
Plus strand

Genomic View for UBR7 Gene

Genes around UBR7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UBR7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UBR7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UBR7 Gene

Proteins for UBR7 Gene

  • Protein details for UBR7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N806-UBR7_HUMAN
    Recommended name:
    Putative E3 ubiquitin-protein ligase UBR7
    Protein Accession:
    Q8N806
    Secondary Accessions:
    • Q86U21
    • Q86UA9
    • Q96BY0
    • Q9NVV6

    Protein attributes for UBR7 Gene

    Size:
    425 amino acids
    Molecular mass:
    47999 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH15046.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH51819.4; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA91639.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for UBR7 Gene

Post-translational modifications for UBR7 Gene

  • Ubiquitination at Lys384, Lys398, Lys412, and Lys413
  • Modification sites at PhosphoSitePlus

Other Protein References for UBR7 Gene

No data available for DME Specific Peptides for UBR7 Gene

Domains & Families for UBR7 Gene

Gene Families for UBR7 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for UBR7 Gene

InterPro:
Blocks:
  • Zn-finger (putative), N-recognin
ProtoNet:

Suggested Antigen Peptide Sequences for UBR7 Gene

GenScript: Design optimal peptide antigens:
  • UBR7 protein (Q05DA8_HUMAN)
  • N-recognin-7 (UBR7_HUMAN)
genes like me logo Genes that share domains with UBR7: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for UBR7 Gene

Function for UBR7 Gene

Molecular function for UBR7 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=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.; EC=2.3.2.27;.

Enzyme Numbers (IUBMB) for UBR7 Gene

Phenotypes From GWAS Catalog for UBR7 Gene

Gene Ontology (GO) - Molecular Function for UBR7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0008270 zinc ion binding IEA --
GO:0016740 transferase activity IEA --
GO:0046872 metal ion binding IEA --
GO:0061630 ubiquitin protein ligase activity IEA --
genes like me logo Genes that share ontologies with UBR7: view
genes like me logo Genes that share phenotypes with UBR7: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UBR7

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for UBR7 Gene

Localization for UBR7 Gene

Subcellular locations from

COMPARTMENTS
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 UBR7 gene
Compartment Confidence
nucleus 3
plasma membrane 1
cytoskeleton 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for UBR7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
genes like me logo Genes that share ontologies with UBR7: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for UBR7 Gene

Pathways & Interactions for UBR7 Gene

PathCards logo

SuperPathways for UBR7 Gene

No Data Available

UniProtKB/Swiss-Prot Q8N806-UBR7_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for UBR7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0016567 protein ubiquitination IEA --
genes like me logo Genes that share ontologies with UBR7: view

No data available for Pathways by source and SIGNOR curated interactions for UBR7 Gene

Drugs & Compounds for UBR7 Gene

No Compound Related Data Available

Transcripts for UBR7 Gene

mRNA/cDNA for UBR7 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UBR7

Alternative Splicing Database (ASD) splice patterns (SP) for UBR7 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b
SP1:
SP2: -
SP3: -

Relevant External Links for UBR7 Gene

GeneLoc Exon Structure for
UBR7

Expression for UBR7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for UBR7 Gene

Protein differential expression in normal tissues from HIPED for UBR7 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (14.8), Blymphocyte (11.8), Testis (9.8), and Lymph node (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for UBR7 Gene



Protein tissue co-expression partners for UBR7 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UBR7

SOURCE GeneReport for Unigene cluster for UBR7 Gene:

Hs.648806

mRNA Expression by UniProt/SwissProt for UBR7 Gene:

Q8N806-UBR7_HUMAN
Tissue specificity: Expressed in sperm (at protein level).

Evidence on tissue expression from TISSUES for UBR7 Gene

  • Nervous system(4.3)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with UBR7: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for UBR7 Gene

Orthologs for UBR7 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for UBR7 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia UBR7 30 31
  • 99.69 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia -- 31
  • 92 (a)
OneToMany
UBR7 30
  • 91.22 (n)
Cow
(Bos Taurus)
Mammalia UBR7 30 31
  • 91.14 (n)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Ubr7 30
  • 87.06 (n)
Mouse
(Mus musculus)
Mammalia Ubr7 30 17 31
  • 86.12 (n)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 83 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 74 (a)
OneToMany
Chicken
(Gallus gallus)
Aves UBR7 30 31
  • 73.17 (n)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 70 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ubr7 30
  • 67.25 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC398523 30
Zebrafish
(Danio rerio)
Actinopterygii ubr7 30 31
  • 61.83 (n)
OneToMany
Dr.503 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG15141 30 31
  • 50.76 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009512 30
  • 49.44 (n)
Worm
(Caenorhabditis elegans)
Secernentea T22C1.1 30 31
  • 48.26 (n)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT4G23860 30
  • 52.33 (n)
Rice
(Oryza sativa)
Liliopsida Os06g0529800 30
  • 51.12 (n)
Barley
(Hordeum vulgare)
Liliopsida Hv.6152 30
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 56 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.821 30
Species where no ortholog for UBR7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • 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 Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for UBR7 Gene

ENSEMBL:
Gene Tree for UBR7 (if available)
TreeFam:
Gene Tree for UBR7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for UBR7: view image

Paralogs for UBR7 Gene

Paralogs for UBR7 Gene

(1) SIMAP similar genes for UBR7 Gene using alignment to 10 proteins:

  • UBR7_HUMAN
  • E9PCJ7_HUMAN
  • G3V253_HUMAN
  • G3V2G3_HUMAN
  • G3V336_HUMAN
  • H0YJA0_HUMAN
  • H0YJM2_HUMAN
  • H0YJY4_HUMAN
  • L8E9R4_HUMAN
  • Q05DA8_HUMAN
genes like me logo Genes that share paralogs with UBR7: view

Variants for UBR7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UBR7 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs751474426 Likely Benign: Long QT syndrome 93,210,656(+) G/A
NM_175748.4(UBR7):c.293G>A (p.Arg98His)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for UBR7 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for UBR7 Gene

Variant ID Type Subtype PubMed ID
esv3635357 CNV gain 21293372
nsv516487 CNV loss 19592680
nsv974368 CNV duplication 23825009

Variation tolerance for UBR7 Gene

Residual Variation Intolerance Score: 42.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.76; 57.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UBR7 Gene

Human Gene Mutation Database (HGMD)
UBR7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UBR7

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UBR7 Gene

Disorders for UBR7 Gene

MalaCards: The human disease database

(4) MalaCards diseases for UBR7 Gene - From: OMI, COP, and GCD

Disorder Aliases PubMed IDs
li-campeau syndrome
  • licas
johanson-blizzard syndrome
  • jbs
ptosis
  • blepharoptosis
zellweger syndrome
  • cerebrohepatorenal syndrome
- elite association - COSMIC cancer census association via MalaCards
Search UBR7 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for UBR7

genes like me logo Genes that share disorders with UBR7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UBR7 Gene

Publications for UBR7 Gene

  1. Atypical plant homeodomain of UBR7 functions as an H2BK120Ub ligase and breast tumor suppressor. (PMID: 30923315) Adhikary S … Das C (Nature communications 2019) 2 3
  2. Identification and characterization of RING-finger ubiquitin ligase UBR7 in mammalian spermatozoa. (PMID: 24664117) Zimmerman SW … Sutovsky P (Cell and tissue research 2014) 3 4
  3. Synthetic heterovalent inhibitors targeting recognition E3 components of the N-end rule pathway. (PMID: 18162545) Lee MJ … Kwon YT (Proceedings of the National Academy of Sciences of the United States of America 2008) 2 3
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for UBR7 Gene

Sources for UBR7 Gene