Gene Gene information from NCBI Gene database.
Entrez ID 55148
Gene name Ubiquitin protein ligase E3 component n-recognin 7
Gene symbol UBR7
Synonyms (NCBI Gene)
C14orf130LICAS
Chromosome 14
Chromosome location 14q32.12
Summary 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 residu
miRNA miRNA information provided by mirtarbase database.
383
miRTarBase ID miRNA Experiments Reference
MIRT016395 hsa-miR-193b-3p Microarray 20304954
MIRT047220 hsa-miR-181c-5p CLASH 23622248
MIRT046609 hsa-miR-222-3p CLASH 23622248
MIRT039250 hsa-miR-454-3p CLASH 23622248
MIRT114798 hsa-miR-125b-5p PAR-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
GO ID Ontology Definition Evidence Reference
GO:0003674 Function Molecular_function ND
GO:0008150 Process Biological_process ND
GO:0008270 Function Zinc ion binding IEA
GO:0016567 Process Protein ubiquitination IEA
GO:0016740 Function Transferase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613816 20344 ENSG00000012963
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N806
Protein name Putative E3 ubiquitin-protein ligase UBR7 (EC 2.3.2.27) (N-recognin-7) (RING-type E3 ubiquitin transferase UBR7)
Protein 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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02207 zf-UBR 45 113 Putative zinc finger in N-recognin (UBR box) Family
Tissue specificity TISSUE SPECIFICITY: Expressed in sperm (at protein level). {ECO:0000269|PubMed:24664117}.
Sequence
MAGAEGAAGRQSELEPVVSLVDVLEEDEELENEACAVLGGSDSEKCSYSQGSVKRQALYA
CSTCTPEGEEPAGICLACSYECHGSHKLFELYTKRNFRCDCGNSKFKNLECKL
LPDKAKV
NSGNKYNDNFFGLYCICKRPYPDPEDEIPDEMIQCVVCEDWFHGRHLGAIPPESGDFQEM
VCQACMKRCSFLWAYAAQLAVTKISTEDDGLVRNIDGIGDQEVIKPENGEHQDSTLKEDV
PEQGKDDVREVKVEQNSEPCAGSSSESDLQTVFKNESLNAESKSGCKLQELKAKQLIKKD
TATYWPLNWRSKLCTCQDCMKMYGDLDVLFLTDEYDTVLAYENKGKIAQATDRSDPLMDT
LSSMNRVQQVELICEYNDLKTELKDYLKRFADEGTVVKREDIQQFFEEFQSKKRRRVDGM
QYYCS
Sequence length 425
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
12
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Li-Campeau syndrome Likely pathogenic; Pathogenic rs995084790, rs1333901047, rs2505020328, rs1225667509, rs1566821779, rs1894564374, rs1894865880 RCV001823949
RCV003991060
RCV003991061
RCV001292563
RCV001292564
RCV001292565
RCV001292568
Mild intellectual disability Pathogenic rs2140095603 RCV001716246
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Global developmental delay Uncertain significance rs2140104096 RCV001717979
Long QT syndrome Likely benign rs751474426 RCV000190156
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 32572277
Carcinoma Hepatocellular Inhibit 36419136
Developmental Disabilities Associate 37478672
Glaucoma Open Angle Associate 22605921
Li Fraumeni Syndrome Associate 37478672
Neoplasms Associate 36419136
Precursor T Cell Lymphoblastic Leukemia Lymphoma Stimulate 33571115