Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55148
Gene name Gene Name - the full gene name approved by the HGNC.
Ubiquitin protein ligase E3 component n-recognin 7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
UBR7
Synonyms (NCBI Gene) Gene synonyms aliases
C14orf130, LICAS
Disease Acronyms (UniProt) Disease acronyms from UniProt database
LICAS
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q32.12
Summary Summary of gene provided in NCBI Entrez 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 residu
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003674 Function Molecular_function ND
GO:0005737 Component Cytoplasm IBA 21873635
GO:0008150 Process Biological_process ND
GO:0008270 Function Zinc ion binding IEA
GO:0016567 Process Protein ubiquitination IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
613816 20344 ENSG00000012963
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Mental retardation Profound Mental Retardation, Mental deficiency, Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
21937992
Associations from Text Mining
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