ENSG00000170315


Homo sapiens

Features
Gene ID: ENSG00000170315
  
Biological name :UBB
  
Synonyms : P0CG47 / UBB / ubiquitin B
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: 1
Band: p11.2
Gene start: 16380798
Gene end: 16382745
  
Corresponding Affymetrix probe sets: 200633_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000464594
Ensembl peptide - ENSP00000464510
Ensembl peptide - ENSP00000478771
Ensembl peptide - ENSP00000304697
Ensembl peptide - ENSP00000379178
Ensembl peptide - ENSP00000379180
Ensembl peptide - ENSP00000437475
Ensembl peptide - ENSP00000463156
NCBI entrez gene - 7314     See in Manteia.
OMIM - 191339
RefSeq - NM_001281716
RefSeq - NM_001281717
RefSeq - NM_001281718
RefSeq - NM_001281719
RefSeq - NM_001281720
RefSeq - NM_018955
RefSeq Peptide - NP_001268648
RefSeq Peptide - NP_061828
RefSeq Peptide - NP_001268645
RefSeq Peptide - NP_001268646
RefSeq Peptide - NP_001268647
RefSeq Peptide - NP_001268649
swissprot - B4DV12
swissprot - J3QKN0
swissprot - P0CG47
swissprot - Q5U5U6
swissprot - J3QS39
swissprot - J3QSA3
Ensembl - ENSG00000170315
  
Related genetic diseases (OMIM): 119540 - Cleft palate, isolated, 119540
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 Gm8797ENSMUSG00000103034Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
UBC / P0CG48 / ubiquitin CENSG0000015099197
ISG15 / P05161 / ISG15 ubiquitin-like modifierENSG0000018760814


Protein motifs (from Interpro)
Interpro ID Name
 IPR000626  Ubiquitin domain
 IPR019954  Ubiquitin conserved site
 IPR019956  Ubiquitin
 IPR029071  Ubiquitin-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000086 G2/M transition of mitotic cell cycle TAS
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II TAS
 biological_processGO:0000165 MAPK cascade TAS
 biological_processGO:0000187 activation of MAPK activity TAS
 biological_processGO:0000209 protein polyubiquitination TAS
 biological_processGO:0000715 nucleotide-excision repair, DNA damage recognition TAS
 biological_processGO:0000717 nucleotide-excision repair, DNA duplex unwinding TAS
 biological_processGO:0002223 stimulatory C-type lectin receptor signaling pathway TAS
 biological_processGO:0002755 MyD88-dependent toll-like receptor signaling pathway TAS
 biological_processGO:0002756 MyD88-independent toll-like receptor signaling pathway TAS
 biological_processGO:0005978 glycogen biosynthetic process TAS
 biological_processGO:0006283 transcription-coupled nucleotide-excision repair TAS
 biological_processGO:0006294 nucleotide-excision repair, preincision complex assembly TAS
 biological_processGO:0006296 nucleotide-excision repair, DNA incision, 5"-to lesion TAS
 biological_processGO:0006297 nucleotide-excision repair, DNA gap filling TAS
 biological_processGO:0006457 protein folding TAS
 biological_processGO:0006879 cellular iron ion homeostasis TAS
 biological_processGO:0006977 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest TAS
 biological_processGO:0007179 transforming growth factor beta receptor signaling pathway TAS
 biological_processGO:0007219 Notch signaling pathway TAS
 biological_processGO:0007249 I-kappaB kinase/NF-kappaB signaling TAS
 biological_processGO:0007254 JNK cascade TAS
 biological_processGO:0008543 fibroblast growth factor receptor signaling pathway TAS
 biological_processGO:0010803 regulation of tumor necrosis factor-mediated signaling pathway TAS
 biological_processGO:0010972 negative regulation of G2/M transition of mitotic cell cycle TAS
 biological_processGO:0016055 Wnt signaling pathway TAS
 biological_processGO:0016197 endosomal transport TAS
 biological_processGO:0016236 macroautophagy TAS
 biological_processGO:0016567 protein ubiquitination TAS
 biological_processGO:0016579 protein deubiquitination TAS
 biological_processGO:0019058 viral life cycle TAS
 biological_processGO:0019068 virion assembly TAS
 biological_processGO:0019221 cytokine-mediated signaling pathway TAS
 biological_processGO:0019985 translesion synthesis TAS
 biological_processGO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway TAS
 biological_processGO:0031145 anaphase-promoting complex-dependent catabolic process TAS
 biological_processGO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process TAS
 biological_processGO:0031398 positive regulation of protein ubiquitination IDA
 biological_processGO:0032479 regulation of type I interferon production TAS
 biological_processGO:0032480 negative regulation of type I interferon production TAS
 biological_processGO:0033209 tumor necrosis factor-mediated signaling pathway TAS
 biological_processGO:0033683 nucleotide-excision repair, DNA incision TAS
 biological_processGO:0034220 ion transmembrane transport TAS
 biological_processGO:0035635 entry of bacterium into host cell TAS
 biological_processGO:0035666 TRIF-dependent toll-like receptor signaling pathway TAS
 biological_processGO:0036297 interstrand cross-link repair TAS
 biological_processGO:0038061 NIK/NF-kappaB signaling TAS
 biological_processGO:0038095 Fc-epsilon receptor signaling pathway TAS
 biological_processGO:0038128 ERBB2 signaling pathway TAS
 biological_processGO:0042059 negative regulation of epidermal growth factor receptor signaling pathway TAS
 biological_processGO:0042276 error-prone translesion synthesis TAS
 biological_processGO:0042769 DNA damage response, detection of DNA damage TAS
 biological_processGO:0043065 positive regulation of apoptotic process TAS
 biological_processGO:0043066 negative regulation of apoptotic process TAS
 biological_processGO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling TAS
 biological_processGO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process TAS
 biological_processGO:0043488 regulation of mRNA stability TAS
 biological_processGO:0044267 cellular protein metabolic process TAS
 biological_processGO:0045087 innate immune response TAS
 biological_processGO:0045742 positive regulation of epidermal growth factor receptor signaling pathway TAS
 biological_processGO:0045746 negative regulation of Notch signaling pathway TAS
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II TAS
 biological_processGO:0047497 mitochondrion transport along microtubule IDA
 biological_processGO:0048812 neuron projection morphogenesis IMP
 biological_processGO:0050852 T cell receptor signaling pathway TAS
 biological_processGO:0051092 positive regulation of NF-kappaB transcription factor activity TAS
 biological_processGO:0051403 stress-activated MAPK cascade TAS
 biological_processGO:0051436 obsolete negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle TAS
 biological_processGO:0051437 obsolete positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition TAS
 biological_processGO:0051881 regulation of mitochondrial membrane potential IDA
 biological_processGO:0055085 transmembrane transport TAS
 biological_processGO:0060071 Wnt signaling pathway, planar cell polarity pathway TAS
 biological_processGO:0060544 regulation of necroptotic process TAS
 biological_processGO:0061024 membrane organization TAS
 biological_processGO:0061136 regulation of proteasomal protein catabolic process IDA
 biological_processGO:0061418 regulation of transcription from RNA polymerase II promoter in response to hypoxia TAS
 biological_processGO:0070423 nucleotide-binding oligomerization domain containing signaling pathway TAS
 biological_processGO:0070498 interleukin-1-mediated signaling pathway TAS
 biological_processGO:0070911 global genome nucleotide-excision repair TAS
 biological_processGO:0070987 error-free translesion synthesis TAS
 biological_processGO:0075733 intracellular transport of virus TAS
 biological_processGO:0090090 negative regulation of canonical Wnt signaling pathway TAS
 biological_processGO:0090263 positive regulation of canonical Wnt signaling pathway TAS
 biological_processGO:1901214 regulation of neuron death IDA
 biological_processGO:1901796 regulation of signal transduction by p53 class mediator TAS
 biological_processGO:1902036 regulation of hematopoietic stem cell differentiation TAS
 biological_processGO:1902255 positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator IDA
 biological_processGO:1902527 positive regulation of protein monoubiquitination IMP
 biological_processGO:1904380 endoplasmic reticulum mannose trimming TAS
 cellular_componentGO:0005615 extracellular space HDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IDA
 cellular_componentGO:0005741 mitochondrial outer membrane TAS
 cellular_componentGO:0005789 endoplasmic reticulum membrane TAS
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0010008 endosome membrane TAS
 cellular_componentGO:0030666 endocytic vesicle membrane TAS
 cellular_componentGO:0031982 vesicle HDA
 cellular_componentGO:0043005 neuron projection IDA
 cellular_componentGO:0043025 neuronal cell body IDA
 cellular_componentGO:0043657 host cell IEA
 cellular_componentGO:0044322 endoplasmic reticulum quality control compartment IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Translesion synthesis by REV1
Recognition of DNA damage by PCNA-containing replication complex
Translesion Synthesis by POLH
Activation of NF-kappaB in B cells
ISG15 antiviral mechanism
Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
ER-Phagosome pathway
Downregulation of ERBB4 signaling
Spry regulation of FGF signaling
Downregulation of ERBB2:ERBB3 signaling
Budding and maturation of HIV virion
NOD1/2 Signaling Pathway
TICAM1, RIP1-mediated IKK complex recruitment
DDX58/IFIH1-mediated induction of interferon-alpha/beta
APC/C:Cdc20 mediated degradation of Cyclin B
Autodegradation of Cdh1 by Cdh1:APC/C
SCF-beta-TrCP mediated degradation of Emi1
APC/C:Cdc20 mediated degradation of Securin
APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1
Cdc20:Phospho-APC/C mediated degradation of Cyclin A
Membrane binding and targetting of GAG proteins
Assembly Of The HIV Virion
APC-Cdc20 mediated degradation of Nek2A
Vpu mediated degradation of CD4
Vif-mediated degradation of APOBEC3G
EGFR downregulation
SCF(Skp2)-mediated degradation of p27/p21
Degradation of beta-catenin by the destruction complex
TCF dependent signaling in response to WNT
Downstream TCR signaling
NRIF signals cell death from the nucleus
p75NTR recruits signalling complexes
NF-kB is activated and signals survival
Regulation of activated PAK-2p34 by proteasome mediated degradation
NOTCH1 Intracellular Domain Regulates Transcription
Activated NOTCH1 Transmits Signal to the Nucleus
Downregulation of TGF-beta receptor signaling
TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)
Downregulation of SMAD2/3:SMAD4 transcriptional activity
SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
Separation of Sister Chromatids
Oxidative Stress Induced Senescence
Senescence-Associated Secretory Phenotype (SASP)
Oncogene Induced Senescence
Regulation of PLK1 Activity at G2/M Transition
Constitutive Signaling by NOTCH1 PEST Domain Mutants
Stimuli-sensing channels
Constitutive Signaling by NOTCH1 HD Domain Mutants
FCERI mediated NF-kB activation
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
NOTCH2 Activation and Transmission of Signal to the Nucleus
Regulation of innate immune responses to cytosolic DNA
Glycogen synthesis
Autodegradation of the E3 ubiquitin ligase COP1
Deactivation of the beta-catenin transactivating complex
Myoclonic epilepsy of Lafora
ABC-family proteins mediated transport
Circadian Clock
TAK1 activates NFkB by phosphorylation and activation of IKKs complex
activated TAK1 mediates p38 MAPK activation
JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1
AUF1 (hnRNP D0) binds and destabilizes mRNA
Asymmetric localization of PCP proteins
Degradation of AXIN
Degradation of DVL
Regulation of FZD by ubiquitination
Pink/Parkin Mediated Mitophagy
N-glycan trimming in the ER and Calnexin/Calreticulin cycle
Regulation of TNFR1 signaling
TNFR1-induced NFkappaB signaling pathway
Hedgehog ligand biogenesis
Hh mutants that dont undergo autocatalytic processing are degraded by ERAD
Dectin-1 mediated noncanonical NF-kB signaling
CLEC7A (Dectin-1) signaling
Degradation of GLI1 by the proteasome
Degradation of GLI2 by the proteasome
GLI3 is processed to GLI3R by the proteasome
Hedgehog on state
Negative regulation of FGFR1 signaling
Negative regulation of FGFR2 signaling
Negative regulation of FGFR3 signaling
Negative regulation of FGFR4 signaling
Translesion synthesis by POLK
Translesion synthesis by POLI
Termination of translesion DNA synthesis
Regulation of RAS by GAPs
TNFR2 non-canonical NF-kB pathway
Negative regulation of MAPK pathway
Regulation of necroptotic cell death
NIK-->noncanonical NF-kB signaling
Defective CFTR causes cystic fibrosis
MAP3K8 (TPL2)-dependent MAPK1/3 activation
HDR through Homologous Recombination (HRR)
MAPK6/MAPK4 signaling
UCH proteinases
Josephin domain DUBs
Ub-specific processing proteases
Ovarian tumor domain proteases
Metalloprotease DUBs
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
Processing of DNA double-strand break ends
DNA Damage Recognition in GG-NER
Formation of Incision Complex in GG-NER
Gap-filling DNA repair synthesis and ligation in GG-NER
Dual Incision in GG-NER
Formation of TC-NER Pre-Incision Complex
Transcription-Coupled Nucleotide Excision Repair (TC-NER)
Dual incision in TC-NER
Gap-filling DNA repair synthesis and ligation in TC-NER
Fanconi Anemia Pathway
Regulation of TP53 Activity through Phosphorylation
Regulation of TP53 Degradation
Regulation of TP53 Activity through Methylation
Negative regulation of MET activity
CDT1 association with the CDC6:ORC:origin complex
Orc1 removal from chromatin
CDK-mediated phosphorylation and removal of Cdc6
Ubiquitin-dependent degradation of Cyclin D1
Cyclin D associated events in G1
G2/M Checkpoints
Stabilization of p53
Ubiquitin Mediated Degradation of Phosphorylated Cdc25A
PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1
The role of GTSE1 in G2/M progression after G2 checkpoint
FBXL7 down-regulates AURKA during mitotic entry and in early mitosis
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
Downregulation of ERBB2 signaling
Synthesis of active ubiquitin: roles of E1 and E2 enzymes
E3 ubiquitin ligases ubiquitinate target proteins
InlB-mediated entry of Listeria monocytogenes into host cell
InlA-mediated entry of Listeria monocytogenes into host cells
RUNX1 regulates transcription of genes involved in differentiation of HSCs
Regulation of RUNX2 expression and activity
Regulation of RUNX3 expression and activity
Regulation of PTEN localization
Regulation of PTEN stability and activity
Neddylation
ER Quality Control Compartment (ERQC)
Regulation of expression of SLITs and ROBOs
NOTCH3 Activation and Transmission of Signal to the Nucleus
TICAM1-dependent activation of IRF3/IRF7
TICAM1,TRAF6-dependent induction of TAK1 complex
Interleukin-1 signaling
Peroxisomal protein import
Regulation of signaling by CBL
Endosomal Sorting Complex Required For Transport (ESCRT)
Iron uptake and transport
Negative regulators of DDX58/IFIH1 signaling
Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon
IRAK1 recruits IKK complex
IKK complex recruitment mediated by RIP1
IRAK2 mediated activation of TAK1 complex
TRAF6-mediated induction of TAK1 complex within TLR4 complex
Negative regulation of NOTCH4 signaling
TRAF6 mediated IRF7 activation in TLR7/8 or 9 signaling
IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation
IRAK2 mediated activation of TAK1 complex upon TLR7/8 or 9 stimulation
Amyloid fiber formation
Antigen processing: Ubiquitination & Proteasome degradation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000175 Cleft palate "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes." [HPO:curators]
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 HP:0000193 Bifid uvula "A split or cleft uvula." [HPO:curators]
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 HP:0000212 Gingival hyperplasia 
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 HP:0000347 Mandibular hypoplasia "Underdevelopment of the mandible." [HPO:curators]
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0002187 Mental retardation, profound "Severe mental retardation is defined as an intelligence quotient (IQ) below 20." [HPO:curators]
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 HP:0008376 Nasal, dysarthic speech 
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 HP:0009102 Anterior openbite malocclusion 
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 HP:0011094 Overbite "Maxillary teeth cover the mandibular teeth when biting to an increased degree." [HPO:ibailleulforestier]
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 HP:0011819 Submucous cleft soft palate "A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue." [HPO:probinson]
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 HP:0410030 Cleft lip "A gap in the lip or lips." []
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000111667 USP5 / P45974 / ubiquitin specific peptidase 5  / reaction
 ENSG00000154124 OTULIN / Q96BN8 / OTU deubiquitinase with linear linkage specificity  / reaction






 

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