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    RNF6 ring finger protein 6 [ Homo sapiens (human) ]

    Gene ID: 6049, updated on 2-Nov-2024

    Summary

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    Official Symbol
    RNF6provided by HGNC
    Official Full Name
    ring finger protein 6provided by HGNC
    Primary source
    HGNC:HGNC:10069
    See related
    Ensembl:ENSG00000127870 MIM:604242; AllianceGenome:HGNC:10069
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    The protein encoded by this gene contains a RING-H2 finger motif. Deletions and mutations in this gene were detected in esophageal squamous cell carcinoma (ESCC), suggesting that this protein may be a potential tumor suppressor. Studies of the mouse counterpart suggested a role of this protein in the transcription regulation that controls germinal differentiation. Multiple alternatively spliced transcript variants encoding the same protein are observed. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 18.5), brain (RPKM 11.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RNF6 in Genome Data Viewer
    Location:
    13q12.13
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (26132115..26223085, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (25346027..25436863, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (26706253..26796508, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 415 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:26650935-26651149 Neighboring gene NANOG hESC enhancer GRCh37_chr13:26673008-26673509 Neighboring gene ATPase phospholipid transporting 8A2 pseudogene 3 Neighboring gene PRUNE1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7490 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7491 Neighboring gene Sharpr-MPRA regulatory region 3220 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:26795223-26796104 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:26796105-26796986 Neighboring gene THAP domain containing 12 pseudogene 6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5186 Neighboring gene cyclin dependent kinase 8 Neighboring gene NANOG hESC enhancer GRCh37_chr13:26953049-26953564

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Cloning and characterization of RNF6, a novel RING finger gene mapping to 13q12. Macdonald DH, et al. Genomics, 1999 May 15. PMID 10331950
    2. E3 ubiquitin ligase RNF6 promotes antiviral immune responses through enhancing the expression of interferon stimulated genes in myeloid cells. Sun W, et al. Clin Immunol, 2022 Sep. PMID 35973638
    3. Cloning and identification of a novel RNF6 transcriptional splice variant Spg2 in human development. Zhu L, et al. Sci China C Life Sci, 2008 Apr. PMID 18368307
    4. RING-Finger Protein 6 promotes Drug Resistance in Retinoblastoma via JAK2/STAT3 Signaling Pathway. Chai Y, et al. Pathol Oncol Res, 2022. PMID 35369571, Free PMC Article
    5. RNF6 serves as a diagnostic hallmark of non-alcoholic fatty liver disease with hepatocellular carcinoma: a clinical research. Jin ZD, et al. Eur Rev Med Pharmacol Sci, 2020 Nov. PMID 33215420

    See all (43) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Non-adherent culture method affects the proliferation and apoptosis of mesenchymal stem cells through inhibiting LINC00707 to promote RNF6-mediated QKI ubiquitination.
      Title: Non-adherent culture method affects the proliferation and apoptosis of mesenchymal stem cells through inhibiting LINC00707 to promote RNF6-mediated QKI ubiquitination.
    2. E3 ubiquitin ligase RNF6 promotes antiviral immune responses through enhancing the expression of interferon stimulated genes in myeloid cells.
      Title: E3 ubiquitin ligase RNF6 promotes antiviral immune responses through enhancing the expression of interferon stimulated genes in myeloid cells.
    3. Knockdown of RNF6 inhibits HeLa cervical cancer cell growth via suppression of MAPK/ERK signaling.
      Title: Knockdown of RNF6 inhibits HeLa cervical cancer cell growth via suppression of MAPK/ERK signaling.
    4. Ring finger protein 6 enhances chemo-resistance by transcriptionally activating proliferating cell nuclear antigen expression and attenuating DNA damage in lung adenocarcinoma.
      Title: Ring finger protein 6 enhances chemo-resistance by transcriptionally activating proliferating cell nuclear antigen expression and attenuating DNA damage in lung adenocarcinoma.
    5. RING-Finger Protein 6 promotes Drug Resistance in Retinoblastoma via JAK2/STAT3 Signaling Pathway.
      Title: RING-Finger Protein 6 promotes Drug Resistance in Retinoblastoma via JAK2/STAT3 Signaling Pathway.
    6. RNF6 promotes colorectal cancer invasion and migration via the Wnt/beta-catenin pathway by inhibiting GSK3beta activity.
      Title: RNF6 promotes colorectal cancer invasion and migration via the Wnt/β-catenin pathway by inhibiting GSK3β activity.
    7. RING-finger protein 6 promotes colorectal tumorigenesis by transcriptionally activating SF3B2.
      Title: RING-finger protein 6 promotes colorectal tumorigenesis by transcriptionally activating SF3B2.
    8. Gene commander in the trash heap: Transcriptional regulation and ubiquitination modification mediated by RNF6 in carcinogenesis.
      Title: Gene commander in the trash heap: Transcriptional regulation and ubiquitination modification mediated by RNF6 in carcinogenesis.
    9. RNF6 serves as a diagnostic hallmark of non-alcoholic fatty liver disease with hepatocellular carcinoma: a clinical research.
      Title: RNF6 serves as a diagnostic hallmark of non-alcoholic fatty liver disease with hepatocellular carcinoma: a clinical research.
    10. RNF6 promotes myeloma cell proliferation and survival by inducing glucocorticoid receptor polyubiquitination.
      Title: RNF6 promotes myeloma cell proliferation and survival by inducing glucocorticoid receptor polyubiquitination.
    Submit: New GeneRIF Correction See all GeneRIFs (19)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Malignant tumor of esophagus
    MedGen: C0546837 OMIM: 133239 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    A comprehensive genetic association study of Alzheimer disease in African Americans.
    EBI GWAS Catalog
    Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp686P0776

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nuclear androgen receptor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin protein ligase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables ubiquitin-protein transferase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in axon extension IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of axon extension ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein K27-linked ubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein K48-linked ubiquitination ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein K6-linked ubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein ubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of androgen receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ubiquitin-dependent protein catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in PML body IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in axon ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    E3 ubiquitin-protein ligase RNF6
    Names
    RING-H2 protein RNF-6
    RING-type E3 ubiquitin transferase RNF6
    ring finger protein (C3H2C3 type) 6
    NP_005968.1
    NP_898864.1
    NP_898865.1
    NP_898866.1
    XP_005266542.1
    XP_005266543.1
    XP_011533479.1
    XP_011533480.1
    XP_016876174.1
    XP_016876175.1
    XP_016876176.1
    XP_024305158.1
    XP_024305159.1
    XP_024305160.1
    XP_047286450.1
    XP_047286451.1
    XP_047286452.1
    XP_047286454.1
    XP_047286455.1
    XP_047286456.1
    XP_054230762.1
    XP_054230763.1
    XP_054230764.1
    XP_054230765.1
    XP_054230766.1
    XP_054230767.1
    XP_054230768.1
    XP_054230769.1
    XP_054230770.1
    XP_054230771.1
    XP_054230772.1
    XP_054230773.1
    XP_054230774.1
    XP_054230775.1
    XP_054230776.1
    XP_054230777.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_017042.2 RefSeqGene

      Range
      5058..14597
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005977.4 → NP_005968.1  E3 ubiquitin-protein ligase RNF6 isoform 1

      See identical proteins and their annotated locations for NP_005968.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1, 3, and 4 all encode the same isoform (1).
      Source sequence(s)
      AL138966
      Consensus CDS
      CCDS9316.1
      UniProtKB/Swiss-Prot
      B4DDP0, Q5W0H0, Q9BZP5, Q9UF41, Q9Y252
      UniProtKB/TrEMBL
      A0A024RDP2, Q68DX6
      Related
      ENSP00000371000.4, ENST00000381588.9
      Conserved Domains (1) summary
      cd16673
      Location:630 → 674
      RING-H2_RNF6; RING finger, H2 subclass, found in E3 ubiquitin-protein ligase RNF6 and similar proteins

    2. NM_183043.3 → NP_898864.1  E3 ubiquitin-protein ligase RNF6 isoform 1

      See identical proteins and their annotated locations for NP_898864.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, as compared to variant 1. Variants 1, 3, and 4 all encode the same isoform (1).
      Source sequence(s)
      AJ010347, AK293272, AL138966, DC310579
      Consensus CDS
      CCDS9316.1
      UniProtKB/Swiss-Prot
      B4DDP0, Q5W0H0, Q9BZP5, Q9UF41, Q9Y252
      UniProtKB/TrEMBL
      A0A024RDP2, Q68DX6
      Related
      ENSP00000342121.3, ENST00000346166.7
      Conserved Domains (1) summary
      cd16673
      Location:630 → 674
      RING-H2_RNF6; RING finger, H2 subclass, found in E3 ubiquitin-protein ligase RNF6 and similar proteins

    3. NM_183044.3 → NP_898865.1  E3 ubiquitin-protein ligase RNF6 isoform 1

      See identical proteins and their annotated locations for NP_898865.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, as compared to variant 1. Variants 1, 3, and 4 all encode the same isoform (1).
      Source sequence(s)
      AL138966, AY009109, BP310130, BU633523, DB062601
      Consensus CDS
      CCDS9316.1
      UniProtKB/Swiss-Prot
      B4DDP0, Q5W0H0, Q9BZP5, Q9UF41, Q9Y252
      UniProtKB/TrEMBL
      A0A024RDP2, Q68DX6
      Related
      ENSP00000370982.3, ENST00000381570.7
      Conserved Domains (1) summary
      cd16673
      Location:630 → 674
      RING-H2_RNF6; RING finger, H2 subclass, found in E3 ubiquitin-protein ligase RNF6 and similar proteins

    4. NM_183045.1 → NP_898866.1  E3 ubiquitin-protein ligase RNF6 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AF293342, BI461269
      UniProtKB/Swiss-Prot
      Q9Y252
      Related
      ENST00000468480.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      26132115..26223085 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047430500.1 → XP_047286456.1  E3 ubiquitin-protein ligase RNF6 isoform X4

    2. XM_047430498.1 → XP_047286454.1  E3 ubiquitin-protein ligase RNF6 isoform X4

    3. XM_047430499.1 → XP_047286455.1  E3 ubiquitin-protein ligase RNF6 isoform X4

    4. XM_011535178.3 → XP_011533480.1  E3 ubiquitin-protein ligase RNF6 isoform X4

      See identical proteins and their annotated locations for XP_011533480.1

      UniProtKB/Swiss-Prot
      Q9Y252

    5. XM_024449392.2 → XP_024305160.1  E3 ubiquitin-protein ligase RNF6 isoform X3

      UniProtKB/TrEMBL
      A0A0S2Z4G9

    6. XM_024449390.2 → XP_024305158.1  E3 ubiquitin-protein ligase RNF6 isoform X1

      UniProtKB/Swiss-Prot
      B4DDP0, Q5W0H0, Q9BZP5, Q9UF41, Q9Y252
      UniProtKB/TrEMBL
      A0A024RDP2, Q68DX6
      Conserved Domains (1) summary
      cd16673
      Location:630 → 674
      RING-H2_RNF6; RING finger, H2 subclass, found in E3 ubiquitin-protein ligase RNF6 and similar proteins

    7. XM_017020686.2 → XP_016876175.1  E3 ubiquitin-protein ligase RNF6 isoform X3

      UniProtKB/TrEMBL
      A0A0S2Z4G9

    8. XM_047430495.1 → XP_047286451.1  E3 ubiquitin-protein ligase RNF6 isoform X3

      UniProtKB/TrEMBL
      A0A0S2Z4G9

    9. XM_005266485.4 → XP_005266542.1  E3 ubiquitin-protein ligase RNF6 isoform X1

      See identical proteins and their annotated locations for XP_005266542.1

      UniProtKB/Swiss-Prot
      B4DDP0, Q5W0H0, Q9BZP5, Q9UF41, Q9Y252
      UniProtKB/TrEMBL
      A0A024RDP2, Q68DX6
      Conserved Domains (1) summary
      cd16673
      Location:630 → 674
      RING-H2_RNF6; RING finger, H2 subclass, found in E3 ubiquitin-protein ligase RNF6 and similar proteins

    10. XM_047430496.1 → XP_047286452.1  E3 ubiquitin-protein ligase RNF6 isoform X3

      UniProtKB/TrEMBL
      A0A0S2Z4G9

    11. XM_011535177.4 → XP_011533479.1  E3 ubiquitin-protein ligase RNF6 isoform X1

      See identical proteins and their annotated locations for XP_011533479.1

      UniProtKB/Swiss-Prot
      B4DDP0, Q5W0H0, Q9BZP5, Q9UF41, Q9Y252
      UniProtKB/TrEMBL
      A0A024RDP2, Q68DX6
      Conserved Domains (1) summary
      cd16673
      Location:630 → 674
      RING-H2_RNF6; RING finger, H2 subclass, found in E3 ubiquitin-protein ligase RNF6 and similar proteins

    12. XM_017020685.3 → XP_016876174.1  E3 ubiquitin-protein ligase RNF6 isoform X3

      UniProtKB/TrEMBL
      A0A0S2Z4G9

    13. XM_017020687.2 → XP_016876176.1  E3 ubiquitin-protein ligase RNF6 isoform X3

      UniProtKB/TrEMBL
      A0A0S2Z4G9

    14. XM_005266486.3 → XP_005266543.1  E3 ubiquitin-protein ligase RNF6 isoform X1

      See identical proteins and their annotated locations for XP_005266543.1

      UniProtKB/Swiss-Prot
      B4DDP0, Q5W0H0, Q9BZP5, Q9UF41, Q9Y252
      UniProtKB/TrEMBL
      A0A024RDP2, Q68DX6
      Conserved Domains (1) summary
      cd16673
      Location:630 → 674
      RING-H2_RNF6; RING finger, H2 subclass, found in E3 ubiquitin-protein ligase RNF6 and similar proteins

    15. XM_024449391.2 → XP_024305159.1  E3 ubiquitin-protein ligase RNF6 isoform X3

      UniProtKB/TrEMBL
      A0A0S2Z4G9

    16. XM_047430494.1 → XP_047286450.1  E3 ubiquitin-protein ligase RNF6 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      25346027..25436863 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054374802.1 → XP_054230777.1  E3 ubiquitin-protein ligase RNF6 isoform X4

    2. XM_054374800.1 → XP_054230775.1  E3 ubiquitin-protein ligase RNF6 isoform X4

    3. XM_054374801.1 → XP_054230776.1  E3 ubiquitin-protein ligase RNF6 isoform X4

    4. XM_054374799.1 → XP_054230774.1  E3 ubiquitin-protein ligase RNF6 isoform X4

    5. XM_054374797.1 → XP_054230772.1  E3 ubiquitin-protein ligase RNF6 isoform X3

      UniProtKB/TrEMBL
      A0A0S2Z4G9

    6. XM_054374794.1 → XP_054230769.1  E3 ubiquitin-protein ligase RNF6 isoform X3

      UniProtKB/TrEMBL
      A0A0S2Z4G9

    7. XM_054374796.1 → XP_054230771.1  E3 ubiquitin-protein ligase RNF6 isoform X3

      UniProtKB/TrEMBL
      A0A0S2Z4G9

    8. XM_054374793.1 → XP_054230768.1  E3 ubiquitin-protein ligase RNF6 isoform X3

      UniProtKB/TrEMBL
      A0A0S2Z4G9

    9. XM_054374792.1 → XP_054230767.1  E3 ubiquitin-protein ligase RNF6 isoform X3

      UniProtKB/TrEMBL
      A0A0S2Z4G9

    10. XM_054374795.1 → XP_054230770.1  E3 ubiquitin-protein ligase RNF6 isoform X3

      UniProtKB/TrEMBL
      A0A0S2Z4G9

    11. XM_054374798.1 → XP_054230773.1  E3 ubiquitin-protein ligase RNF6 isoform X3

      UniProtKB/TrEMBL
      A0A0S2Z4G9

    12. XM_054374791.1 → XP_054230766.1  E3 ubiquitin-protein ligase RNF6 isoform X2

    13. XM_054374790.1 → XP_054230765.1  E3 ubiquitin-protein ligase RNF6 isoform X1

      UniProtKB/Swiss-Prot
      B4DDP0, Q5W0H0, Q9BZP5, Q9UF41, Q9Y252
      UniProtKB/TrEMBL
      A0A024RDP2

    14. XM_054374787.1 → XP_054230762.1  E3 ubiquitin-protein ligase RNF6 isoform X1

      UniProtKB/Swiss-Prot
      B4DDP0, Q5W0H0, Q9BZP5, Q9UF41, Q9Y252
      UniProtKB/TrEMBL
      A0A024RDP2

    15. XM_054374788.1 → XP_054230763.1  E3 ubiquitin-protein ligase RNF6 isoform X1

      UniProtKB/Swiss-Prot
      B4DDP0, Q5W0H0, Q9BZP5, Q9UF41, Q9Y252
      UniProtKB/TrEMBL
      A0A024RDP2

    16. XM_054374789.1 → XP_054230764.1  E3 ubiquitin-protein ligase RNF6 isoform X1

      UniProtKB/Swiss-Prot
      B4DDP0, Q5W0H0, Q9BZP5, Q9UF41, Q9Y252
      UniProtKB/TrEMBL
      A0A024RDP2
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y252.1 GenPept UniProtKB/Swiss-Prot:Q9Y252

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