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RNF207 ring finger protein 207 [ Homo sapiens (human) ]

Gene ID: 388591, updated on 27-Aug-2024

Summary

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Official Symbol
RNF207provided by HGNC
Official Full Name
ring finger protein 207provided by HGNC
Primary source
HGNC:HGNC:32947
See related
Ensembl:ENSG00000158286 MIM:616923; AllianceGenome:HGNC:32947
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C1orf188
Summary
Enables Hsp70 protein binding activity; chaperone binding activity; and transmembrane transporter binding activity. Involved in positive regulation of delayed rectifier potassium channel activity; positive regulation of gene expression; and positive regulation of voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization. Located in perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in heart (RPKM 5.9), prostate (RPKM 3.0) and 24 other tissues See more
Orthologs
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Genomic context

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Location:
1p36.31
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (6206119..6221299)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (5731763..5746943)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (6266179..6281359)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L22 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 138 Neighboring gene Sharpr-MPRA regulatory region 5942 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:6265555-6266374 Neighboring gene RNF207 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 139 Neighboring gene Sharpr-MPRA regulatory region 13921 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 140 Neighboring gene MPRA-validated peak28 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr1:6279526-6279711 Neighboring gene isoprenylcysteine carboxyl methyltransferase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 141 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 142 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:6296257-6297229 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:6299873-6300619 Neighboring gene ICMT divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:6304377-6304934 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:6305171-6305522 Neighboring gene hes family bHLH transcription factor 3

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. Exome sequencing identifies a novel nonsense mutation of Ring Finger Protein 207 in a Chinese family with Long QT syndrome and syncope. Fan LL, et al. J Hum Genet, 2019 Mar. PMID 30542207
  2. Circulating E3 ligases are novel and sensitive biomarkers for diagnosis of acute myocardial infarction. Han QY, et al. Clin Sci (Lond), 2015 Jun. PMID 25599194, Free PMC Article
  3. Disruption of protein quality control of the human ether-à-go-go related gene K(+) channel results in profound long QT syndrome. Ledford HA, et al. Heart Rhythm, 2022 Feb. PMID 34634443, Free PMC Article
  4. Common variants at ten loci modulate the QT interval duration in the QTSCD Study. Pfeufer A, et al. Nat Genet, 2009 Apr. PMID 19305409, Free PMC Article
  5. RING finger protein RNF207, a novel regulator of cardiac excitation. Roder K, et al. J Biol Chem, 2014 Dec 5. PMID 25281747, Free PMC Article

See all (13) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Disruption of protein quality control of the human ether-a-go-go related gene K(+) channel results in profound long QT syndrome.
    Title: Disruption of protein quality control of the human ether-à-go-go related gene K(+) channel results in profound long QT syndrome.
  2. Nonsense mutation of RNF207 gene is associated with Long QT syndrome.
    Title: Exome sequencing identifies a novel nonsense mutation of Ring Finger Protein 207 in a Chinese family with Long QT syndrome and syncope.
  3. Data indicate that plasma E3 Ligase Rnf207 (ring finger protein 207) level in acute myocardial infarction patients increased significantly compared with that in healthy people.
    Title: Circulating E3 ligases are novel and sensitive biomarkers for diagnosis of acute myocardial infarction.
  4. RNF207 is an important regulator of action potential duration, likely via effects on HERG trafficking and localization in a heat shock protein-dependent manner.
    Title: RING finger protein RNF207, a novel regulator of cardiac excitation.
  5. Genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Common variants at ten loci modulate the QT interval duration in the QTSCD Study.
  6. Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Common variants at ten loci influence QT interval duration in the QTGEN Study.
Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
Common variants at ten loci influence QT interval duration in the QTGEN Study.
EBI GWAS Catalog
Common variants at ten loci modulate the QT interval duration in the QTSCD Study.
EBI GWAS Catalog
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
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)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ32096, FLJ46380, FLJ46593

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables Hsp70 protein binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables Hsp70 protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein-folding chaperone binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transmembrane transporter binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables transmembrane transporter binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in cell-cell signaling involved in cardiac conduction ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of delayed rectifier potassium channel activity IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in positive regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of cardiac muscle contraction IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of cardiac muscle contraction ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of heart looping IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of heart looping ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
is_active_in perinuclear region of cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in perinuclear region of cytoplasm IMP
Inferred from Mutant Phenotype
more info
 PubMed 

General protein information

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Preferred Names
RING finger protein 207

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.

mRNA and Protein(s)

  1. NM_207396.3 → NP_997279.2  RING finger protein 207

    See identical proteins and their annotated locations for NP_997279.2

    Status: VALIDATED

    Source sequence(s)
    AK127700, AL031847, BQ045220, CD673733, DA190055, DB290694, DB636433
    Consensus CDS
    CCDS59.2
    UniProtKB/Swiss-Prot
    A2VCM8, B4DFR6, Q5TGS6, Q6ZRF8, Q6ZS63, Q96MP2
    Related
    ENSP00000367173.4, ENST00000377939.5
    Conserved Domains (3) summary
    smart00184
    Location:25 → 63
    RING; Ring finger
    pfam00643
    Location:93 → 145
    zf-B_box; B-box zinc finger
    cl23765
    Location:202 → 321
    iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    6206119..6221299
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047420010.1 → XP_047275966.1  RING finger protein 207 isoform X1

  2. XM_011541439.4 → XP_011539741.2  RING finger protein 207 isoform X2

  3. XM_047420023.1 → XP_047275979.1  RING finger protein 207 isoform X4

  4. XM_047420029.1 → XP_047275985.1  RING finger protein 207 isoform X5

  5. XM_047420021.1 → XP_047275977.1  RING finger protein 207 isoform X3

RNA

  1. XR_002956484.2 RNA Sequence

  2. XR_002956486.2 RNA Sequence

  3. XR_001737161.3 RNA Sequence

  4. XR_001737159.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    5731763..5746943
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054336502.1 → XP_054192477.1  RING finger protein 207 isoform X1

  2. XM_054336503.1 → XP_054192478.1  RING finger protein 207 isoform X2

  3. XM_054336505.1 → XP_054192480.1  RING finger protein 207 isoform X4

  4. XM_054336506.1 → XP_054192481.1  RING finger protein 207 isoform X5

  5. XM_054336504.1 → XP_054192479.1  RING finger protein 207 isoform X3

RNA

  1. XR_008486040.1 RNA Sequence

  2. XR_008486042.1 RNA Sequence

  3. XR_008486041.1 RNA Sequence

  4. XR_008486039.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_173795.2: Suppressed sequence

    Description
    NM_173795.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6ZRF8.2 GenPept UniProtKB/Swiss-Prot:Q6ZRF8

Gene LinkOut

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