UBR7
Putative E3 ubiquitin-protein ligase UBR7
Also known as: C14orf130, UBR7_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8N806
- Gene
- UBR7
- Ensembl
- ENSG00000012963
- Chromosome
- 14
- Canonical length
- 425 aa
- Protein class
- Disease related genes, Enzymes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
425 residues, UniProt reviewed canonical sequence.
>Q8N806|UBR7
1 MAGAEGAAGR QSELEPVVSL VDVLEEDEEL ENEACAVLGG SDSEKCSYSQ GSVKRQALYA
61 CSTCTPEGEE PAGICLACSY ECHGSHKLFE LYTKRNFRCD CGNSKFKNLE CKLLPDKAKV
121 NSGNKYNDNF FGLYCICKRP YPDPEDEIPD EMIQCVVCED WFHGRHLGAI PPESGDFQEM
181 VCQACMKRCS FLWAYAAQLA VTKISTEDDG LVRNIDGIGD QEVIKPENGE HQDSTLKEDV
241 PEQGKDDVRE VKVEQNSEPC AGSSSESDLQ TVFKNESLNA ESKSGCKLQE LKAKQLIKKD
301 TATYWPLNWR SKLCTCQDCM KMYGDLDVLF LTDEYDTVLA YENKGKIAQA TDRSDPLMDT
361 LSSMNRVQQV ELICEYNDLK TELKDYLKRF ADEGTVVKRE DIQQFFEEFQ SKKRRRVDGM
421 QYYCSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against UBR7 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Unknown
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.42
- Highest tissue expression
- 32 nTPM
Expression across tissuesHPA
Tissue
- thymus: 32 nTPM
- tonsil: 26 nTPM
- parathyroid gland: 24 nTPM
- tongue: 24 nTPM
- retina: 23 nTPM
- cerebral cortex: 22 nTPM
Single-cell type
- late spermatids: 478 nCPM
- early spermatids: 295 nCPM
- late primary spermatocytes: 158 nCPM
- megakaryocytes: 19 nCPM
- erythrocyte progenitors: 13 nCPM
- choroid plexus epithelial cells: 12 nCPM
Immune cell
- basophil: 35 nTPM
- T-reg: 27 nTPM
- memory B-cell: 27 nTPM
- naive B-cell: 21 nTPM
- MAIT T-cell: 20 nTPM
- non-classical monocyte: 18 nTPM
Brain region
- basal ganglia: 23 nTPM
- cerebral cortex: 23 nTPM
- white matter: 22 nTPM
- choroid plexus: 21 nTPM
- thalamus: 20 nTPM
- spinal cord: 19 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about UBR7.
Disease | AllUniProt
Conditions UBR7 is implicated in, by any mechanism.
- Li-Campeau syndrome (LICAS) MIM:619189
Disease | GeneticClinVar
8 pathogenic / likely-pathogenic of 66 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Li-Campeau syndrome
- Mild intellectual disability
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.45
- gnomAD pLI
- 0.49
- gnomAD missense Z
- 1.85
- DepMap mean gene effect
- 0.06
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Protein domainsUniProt · Pfam · InterPro
- Zinc finger, UBR-type
- Zinc finger, FYVE/PHD-type
- Zinc finger, RING/FYVE/PHD-type
- Putative zinc finger in N-recognin (UBR box)
- E3 ubiquitin-protein ligase UBR7
- E3 ubiquitin-protein ligase UBR7-like, UBR-box
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads UBR7 as an antibody target. Whether an autoantibody or antibody against UBR7 could matter depends on whether native UBR7 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
UBR7 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label UBR7 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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