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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
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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: 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

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)

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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_207396.3NP_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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