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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Li-Campeau syndrome Likely pathogenic; Pathogenic rs995084790, rs1333901047, rs2505020328, rs1225667509, rs1566821779, rs1894564374, rs1894865880 RCV001823949
RCV003991060
RCV003991061
RCV001292563
RCV001292564
View all (2 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mild intellectual disability Pathogenic rs2140095603 RCV001716246
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Global developmental delay Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
INTELLECTUAL DISABILITY CTD, Disgenet, GenCC
CTD, Disgenet, GenCC
CTD, Disgenet, GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Long QT syndrome Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Neoplasms Breast neoplasm Pubtator 32572277 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 36419136 Inhibit
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Developmental disability Pubtator 37478672 Associate
★☆☆☆☆
Found in Text Mining only
Glaucoma Open Angle Open angle glaucoma Pubtator 22605921 Associate
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Mental retardation CTD_human_DG 21937992
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Mammary Neoplasms Mammary Neoplasms BEFREE 30923315
★☆☆☆☆
Found in Text Mining only
Mental deficiency Mental retardation CTD_human_DG 21937992
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 30923315
★☆☆☆☆
Found in Text Mining only
Profound Mental Retardation Mental retardation CTD_human_DG 21937992
★☆☆☆☆
Found in Text Mining only
Triple Negative Breast Neoplasms Triple Negative Breast Neoplasms BEFREE 30923315
★☆☆☆☆
Found in Text Mining only