ENSG00000127870


Homo sapiens

Features
Gene ID: ENSG00000127870
  
Biological name :RNF6
  
Synonyms : Q9Y252 / ring finger protein 6 / RNF6
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 13
Strand: -1
Band: q12.13
Gene start: 26132115
Gene end: 26222493
  
Corresponding Affymetrix probe sets: 203403_s_at (Human Genome U133 Plus 2.0 Array)   210931_at (Human Genome U133 Plus 2.0 Array)   210932_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000371000
Ensembl peptide - ENSP00000342121
Ensembl peptide - ENSP00000370982
NCBI entrez gene - 6049     See in Manteia.
OMIM - 604242
RefSeq - XM_017020687
RefSeq - NM_005977
RefSeq - NM_183043
RefSeq - NM_183044
RefSeq - NM_183045
RefSeq - XM_005266485
RefSeq - XM_005266486
RefSeq - XM_011535177
RefSeq - XM_011535178
RefSeq - XM_017020685
RefSeq - XM_017020686
RefSeq Peptide - NP_005968
RefSeq Peptide - NP_898864
RefSeq Peptide - NP_898865
RefSeq Peptide - NP_898866
swissprot - Q9Y252
swissprot - A0A024RDP2
Ensembl - ENSG00000127870
  
Related genetic diseases (OMIM): 133239 - Esophageal carcinoma, somatic, 133239
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
 rnf6ENSDARG00000077955Danio rerio
 RNF6ENSGALG00000017105Gallus gallus
 Rnf6ENSMUSG00000029634Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
RLIM / Q9NVW2 / ring finger protein, LIM domain interactingENSG0000013126342
RNF38 / Q9H0F5 / ring finger protein 38ENSG0000013707514
RNF44 / Q7L0R7 / ring finger protein 44ENSG0000014608312


Protein motifs (from Interpro)
Interpro ID Name
 IPR001841  Zinc finger, RING-type
 IPR013083  Zinc finger, RING/FYVE/PHD-type


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006355 regulation of transcription, DNA-templated IMP
 biological_processGO:0006511 ubiquitin-dependent protein catabolic process ISS
 biological_processGO:0016567 protein ubiquitination IEA
 biological_processGO:0030517 negative regulation of axon extension ISS
 biological_processGO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process IBA
 biological_processGO:0044314 protein K27-linked ubiquitination IDA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IMP
 biological_processGO:0060765 regulation of androgen receptor signaling pathway IMP
 biological_processGO:0070936 protein K48-linked ubiquitination ISS
 biological_processGO:0085020 protein K6-linked ubiquitination IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0016605 PML body IEA
 cellular_componentGO:0030424 axon ISS
 cellular_componentGO:0031965 nuclear membrane IDA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IDA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0004842 ubiquitin-protein transferase activity IMP
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0050681 androgen receptor binding IPI
 molecular_functionGO:0061630 ubiquitin protein ligase activity IBA


Pathways (from Reactome)
Pathway description
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:0001608 Abnormality of the voice "Any abnormality of the voice." [HPO:curators]
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 HP:0001864 Fifth toe clinodactyly 
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 HP:0002017 Nausea and vomiting 
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 HP:0002716 Lymphadenopathy 
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 HP:0002860 Squamous cell carcinoma 
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 HP:0008872 Feeding problems in infancy 
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 HP:0011459 Esophageal carcinoma "The presence of a `carcinoma` (MPATH:549) of the `esophagus` (FMA:7131)." [DDD:hfirth]
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 HP:0012735 Cough "A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation." [HPO:probinson]
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 HP:0100749 Chest pain 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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