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

    Gene ID: 388591, updated on 10-Dec-2024

    Summary

    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 and transmembrane transporter binding activity. Involved in positive regulation of gene expression. Located in perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in heart (RPKM 5.9), prostate (RPKM 3.0) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See RNF207 in Genome Data Viewer
    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)
    RS_2024_09 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

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (16 hits/1301 screens)

    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

    Interactions

    General gene information

    Clone Names

    • FLJ32096, FLJ46380, FLJ46593

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables Hsp70 protein binding  
    enables Hsp70 protein binding PubMed 
    enables protein binding PubMed 
    enables protein-folding chaperone binding PubMed 
    enables transmembrane transporter binding  
    enables transmembrane transporter binding PubMed 
    enables zinc ion binding  
    Component Evidence Code Pubs
    is_active_in perinuclear region of cytoplasm  
    located_in perinuclear region of cytoplasm PubMed 

    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.

    mRNA and Protein(s)

    1. NM_207396.3NP_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:2563
      RING; Ring finger
      pfam00643
      Location:93145
      zf-B_box; B-box zinc finger
      cl23765
      Location:202321
      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_047420010.1XP_047275966.1  RING finger protein 207 isoform X1

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

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

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

    5. XM_047420021.1XP_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_054336502.1XP_054192477.1  RING finger protein 207 isoform X1

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

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

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

    5. XM_054336504.1XP_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

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