ENSG00000127922


Homo sapiens

Features
Gene ID: ENSG00000127922
  
Biological name :SEM1
  
Synonyms : P60896 / Q6ZVN7 / SEM1 / SEM1, 26S proteasome complex subunit
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: -1
Band: q21.3
Gene start: 96481626
Gene end: 96709891
  
Corresponding Affymetrix probe sets: 202276_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000416322
Ensembl peptide - ENSP00000478651
Ensembl peptide - ENSP00000485353
Ensembl peptide - ENSP00000485341
Ensembl peptide - ENSP00000484726
Ensembl peptide - ENSP00000484478
Ensembl peptide - ENSP00000482085
Ensembl peptide - ENSP00000481400
Ensembl peptide - ENSP00000481021
Ensembl peptide - ENSP00000480885
Ensembl peptide - ENSP00000248566
Ensembl peptide - ENSP00000349114
Ensembl peptide - ENSP00000390049
Ensembl peptide - ENSP00000392852
Ensembl peptide - ENSP00000409481
NCBI entrez gene - 7979     See in Manteia.
OMIM - 601285
RefSeq - NM_001349702
RefSeq - NM_006304
RefSeq - NM_001201450
RefSeq - NM_001201451
RefSeq - NM_001349700
RefSeq Peptide - NP_001336630
RefSeq Peptide - NP_001336631
RefSeq Peptide - NP_006295
RefSeq Peptide - NP_001188379
RefSeq Peptide - NP_001188380
RefSeq Peptide - NP_001336629
swissprot - P60896
swissprot - Q6IBB7
swissprot - B7ZVW6
swissprot - Q6ZVN7
swissprot - A0A096LP28
swissprot - A0A096LP17
swissprot - A0A087X261
swissprot - A0A087X1V0
swissprot - A0A087WYU0
swissprot - A0A087WXB9
swissprot - A0A087WUG5
swissprot - F2Z2L7
swissprot - F2Z2N6
swissprot - F2Z309
Ensembl - ENSG00000127922
  
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
No match


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR007834  DSS1/SEM1


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000165 MAPK cascade TAS
 biological_processGO:0000209 protein polyubiquitination TAS
 biological_processGO:0002223 stimulatory C-type lectin receptor signaling pathway TAS
 biological_processGO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS
 biological_processGO:0006406 mRNA export from nucleus IEA
 biological_processGO:0006521 regulation of cellular amino acid metabolic process TAS
 biological_processGO:0010972 negative regulation of G2/M transition of mitotic cell cycle TAS
 biological_processGO:0016579 protein deubiquitination 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:0033209 tumor necrosis factor-mediated signaling pathway TAS
 biological_processGO:0038061 NIK/NF-kappaB signaling TAS
 biological_processGO:0038095 Fc-epsilon receptor signaling pathway TAS
 biological_processGO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process TAS
 biological_processGO:0043248 proteasome assembly IEA
 biological_processGO:0043488 regulation of mRNA stability TAS
 biological_processGO:0043687 post-translational protein modification TAS
 biological_processGO:0050852 T cell receptor signaling pathway 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:0055085 transmembrane transport TAS
 biological_processGO:0060071 Wnt signaling pathway, planar cell polarity pathway TAS
 biological_processGO:0061418 regulation of transcription from RNA polymerase II promoter in response to hypoxia TAS
 biological_processGO:0070498 interleukin-1-mediated signaling pathway 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:1902036 regulation of hematopoietic stem cell differentiation TAS
 cellular_componentGO:0000502 proteasome complex IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0008541 proteasome regulatory particle, lid subcomplex IEA
 cellular_componentGO:0032039 integrator complex IDA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Activation of NF-kappaB in B cells
Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
ER-Phagosome pathway
Cross-presentation of soluble exogenous antigens (endosomes)
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
Vpu mediated degradation of CD4
Vif-mediated degradation of APOBEC3G
SCF(Skp2)-mediated degradation of p27/p21
Degradation of beta-catenin by the destruction complex
Downstream TCR signaling
Regulation of activated PAK-2p34 by proteasome mediated degradation
Separation of Sister Chromatids
FCERI mediated NF-kB activation
Autodegradation of the E3 ubiquitin ligase COP1
Regulation of ornithine decarboxylase (ODC)
ABC-family proteins mediated transport
AUF1 (hnRNP D0) binds and destabilizes mRNA
Asymmetric localization of PCP proteins
Degradation of AXIN
Degradation of DVL
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
Regulation of RAS by GAPs
TNFR2 non-canonical NF-kB pathway
NIK-->noncanonical NF-kB signaling
Defective CFTR causes cystic fibrosis
MAPK6/MAPK4 signaling
UCH proteinases
Ub-specific processing proteases
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
G2/M Checkpoints
Ubiquitin Mediated Degradation of Phosphorylated Cdc25A
The role of GTSE1 in G2/M progression after G2 checkpoint
FBXL7 down-regulates AURKA during mitotic entry and in early mitosis
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 stability and activity
Neddylation
Regulation of expression of SLITs and ROBOs
Interleukin-1 signaling
Negative regulation of NOTCH4 signaling
Antigen processing: Ubiquitination & Proteasome degradation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
Show

 HP:0000526 Aniridia "Congenital absence of the iris." [HPO:curators]
Show

 HP:0001171 Ectrodactyly (hands) 
Show

 HP:0004050 Absent hands 
Show

 HP:0006101 Finger syndactyly "Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators]
Show

 HP:0012165 Oligodactyly "A developmental defect resulting in the presence of fewer than the normal number of digits." [HPO:probinson]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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