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

Gene ID: 6049, updated on 6-May-2021

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
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
109.20210226 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (26132115..26223085, complement)
105.20201022 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 ATPase phospholipid transporting 8A2 pseudogene 3 Neighboring gene prune exopolyphosphatase pseudogene 1 Neighboring gene THAP domain containing 12 pseudogene 6 Neighboring gene cyclin dependent kinase 8

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A comprehensive genetic association study of Alzheimer disease in African Americans.
GeneReviews: Not available
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
GeneReviews: Not available
Malignant tumor of esophagus
MedGen: C0546837 OMIM: 133239 GeneReviews: Not available
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Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp686P0776

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables androgen receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
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
PubMed 
enables ubiquitin-protein transferase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
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
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
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

NCBI Reference Sequences (RefSeq)

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_005977.4NP_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
    Q9Y252
    UniProtKB/TrEMBL
    A0A024RDP2
    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
    Q9Y252
    UniProtKB/TrEMBL
    A0A024RDP2
    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
    Q9Y252
    UniProtKB/TrEMBL
    A0A024RDP2
    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: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011535178.2XP_011533480.1  E3 ubiquitin-protein ligase RNF6 isoform X3

    See identical proteins and their annotated locations for XP_011533480.1

    UniProtKB/Swiss-Prot
    Q9Y252
  2. XM_024449392.1XP_024305160.1  E3 ubiquitin-protein ligase RNF6 isoform X2

  3. XM_024449390.1XP_024305158.1  E3 ubiquitin-protein ligase RNF6 isoform X1

    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. XM_017020686.1XP_016876175.1  E3 ubiquitin-protein ligase RNF6 isoform X2

    UniProtKB/TrEMBL
    A0A0S2Z4G9
  5. XM_005266485.3XP_005266542.1  E3 ubiquitin-protein ligase RNF6 isoform X1

    See identical proteins and their annotated locations for XP_005266542.1

    UniProtKB/Swiss-Prot
    Q9Y252
    UniProtKB/TrEMBL
    A0A024RDP2
    Conserved Domains (1) summary
    cd16673
    Location:630674
    RING-H2_RNF6; RING finger, H2 subclass, found in E3 ubiquitin-protein ligase RNF6 and similar proteins
  6. XM_011535177.3XP_011533479.1  E3 ubiquitin-protein ligase RNF6 isoform X1

    See identical proteins and their annotated locations for XP_011533479.1

    UniProtKB/Swiss-Prot
    Q9Y252
    UniProtKB/TrEMBL
    A0A024RDP2
    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_017020685.2XP_016876174.1  E3 ubiquitin-protein ligase RNF6 isoform X2

    UniProtKB/TrEMBL
    A0A0S2Z4G9
  8. XM_017020687.1XP_016876176.1  E3 ubiquitin-protein ligase RNF6 isoform X2

    UniProtKB/TrEMBL
    A0A0S2Z4G9
  9. XM_005266486.2XP_005266543.1  E3 ubiquitin-protein ligase RNF6 isoform X1

    See identical proteins and their annotated locations for XP_005266543.1

    UniProtKB/Swiss-Prot
    Q9Y252
    UniProtKB/TrEMBL
    A0A024RDP2
    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_024449391.1XP_024305159.1  E3 ubiquitin-protein ligase RNF6 isoform X2

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