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

Gene ID: 6049, updated on 10-Dec-2024

Summary

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
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Genomic context

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

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

Interactions

General gene information

Clone Names

  • DKFZp686P0776

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding  
enables metal ion binding  
enables nuclear androgen receptor binding PubMed 
enables protein binding PubMed 
enables ubiquitin protein ligase activity  
enables ubiquitin protein ligase activity  
enables ubiquitin-protein transferase activity PubMed 
Component Evidence Code Pubs
located_in PML body  
located_in axon  
located_in cytoplasm PubMed 
located_in intracellular membrane-bounded organelle  
located_in nuclear membrane  
is_active_in nucleus  
located_in nucleus PubMed 

General protein information

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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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_005977.4NP_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:630674
    RING-H2_RNF6; RING finger, H2 subclass, found in E3 ubiquitin-protein ligase RNF6 and similar proteins
  2. NM_183043.3NP_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:630674
    RING-H2_RNF6; RING finger, H2 subclass, found in E3 ubiquitin-protein ligase RNF6 and similar proteins
  3. NM_183044.3NP_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:630674
    RING-H2_RNF6; RING finger, H2 subclass, found in E3 ubiquitin-protein ligase RNF6 and similar proteins
  4. NM_183045.1NP_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_047430500.1XP_047286456.1  E3 ubiquitin-protein ligase RNF6 isoform X4

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

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

  4. XM_011535178.3XP_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_024449392.2XP_024305160.1  E3 ubiquitin-protein ligase RNF6 isoform X3

    UniProtKB/TrEMBL
    A0A0S2Z4G9
  6. XM_024449390.2XP_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:630674
    RING-H2_RNF6; RING finger, H2 subclass, found in E3 ubiquitin-protein ligase RNF6 and similar proteins
  7. XM_017020686.2XP_016876175.1  E3 ubiquitin-protein ligase RNF6 isoform X3

    UniProtKB/TrEMBL
    A0A0S2Z4G9
  8. XM_047430495.1XP_047286451.1  E3 ubiquitin-protein ligase RNF6 isoform X3

    UniProtKB/TrEMBL
    A0A0S2Z4G9
  9. XM_005266485.4XP_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:630674
    RING-H2_RNF6; RING finger, H2 subclass, found in E3 ubiquitin-protein ligase RNF6 and similar proteins
  10. XM_047430496.1XP_047286452.1  E3 ubiquitin-protein ligase RNF6 isoform X3

    UniProtKB/TrEMBL
    A0A0S2Z4G9
  11. XM_011535177.4XP_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:630674
    RING-H2_RNF6; RING finger, H2 subclass, found in E3 ubiquitin-protein ligase RNF6 and similar proteins
  12. XM_017020685.3XP_016876174.1  E3 ubiquitin-protein ligase RNF6 isoform X3

    UniProtKB/TrEMBL
    A0A0S2Z4G9
  13. XM_017020687.2XP_016876176.1  E3 ubiquitin-protein ligase RNF6 isoform X3

    UniProtKB/TrEMBL
    A0A0S2Z4G9
  14. XM_005266486.3XP_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:630674
    RING-H2_RNF6; RING finger, H2 subclass, found in E3 ubiquitin-protein ligase RNF6 and similar proteins
  15. XM_024449391.2XP_024305159.1  E3 ubiquitin-protein ligase RNF6 isoform X3

    UniProtKB/TrEMBL
    A0A0S2Z4G9
  16. XM_047430494.1XP_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_054374802.1XP_054230777.1  E3 ubiquitin-protein ligase RNF6 isoform X4

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

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

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

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

    UniProtKB/TrEMBL
    A0A0S2Z4G9
  6. XM_054374794.1XP_054230769.1  E3 ubiquitin-protein ligase RNF6 isoform X3

    UniProtKB/TrEMBL
    A0A0S2Z4G9
  7. XM_054374796.1XP_054230771.1  E3 ubiquitin-protein ligase RNF6 isoform X3

    UniProtKB/TrEMBL
    A0A0S2Z4G9
  8. XM_054374793.1XP_054230768.1  E3 ubiquitin-protein ligase RNF6 isoform X3

    UniProtKB/TrEMBL
    A0A0S2Z4G9
  9. XM_054374792.1XP_054230767.1  E3 ubiquitin-protein ligase RNF6 isoform X3

    UniProtKB/TrEMBL
    A0A0S2Z4G9
  10. XM_054374795.1XP_054230770.1  E3 ubiquitin-protein ligase RNF6 isoform X3

    UniProtKB/TrEMBL
    A0A0S2Z4G9
  11. XM_054374798.1XP_054230773.1  E3 ubiquitin-protein ligase RNF6 isoform X3

    UniProtKB/TrEMBL
    A0A0S2Z4G9
  12. XM_054374791.1XP_054230766.1  E3 ubiquitin-protein ligase RNF6 isoform X2

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

    UniProtKB/Swiss-Prot
    B4DDP0, Q5W0H0, Q9BZP5, Q9UF41, Q9Y252
    UniProtKB/TrEMBL
    A0A024RDP2, Q68DX6
  14. XM_054374787.1XP_054230762.1  E3 ubiquitin-protein ligase RNF6 isoform X1

    UniProtKB/Swiss-Prot
    B4DDP0, Q5W0H0, Q9BZP5, Q9UF41, Q9Y252
    UniProtKB/TrEMBL
    A0A024RDP2, Q68DX6
  15. XM_054374788.1XP_054230763.1  E3 ubiquitin-protein ligase RNF6 isoform X1

    UniProtKB/Swiss-Prot
    B4DDP0, Q5W0H0, Q9BZP5, Q9UF41, Q9Y252
    UniProtKB/TrEMBL
    A0A024RDP2, Q68DX6
  16. XM_054374789.1XP_054230764.1  E3 ubiquitin-protein ligase RNF6 isoform X1

    UniProtKB/Swiss-Prot
    B4DDP0, Q5W0H0, Q9BZP5, Q9UF41, Q9Y252
    UniProtKB/TrEMBL
    A0A024RDP2, Q68DX6
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