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    RNF214 ring finger protein 214 [ Homo sapiens (human) ]

    Gene ID: 257160, updated on 27-Nov-2024

    Summary

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    Official Symbol
    RNF214provided by HGNC
    Official Full Name
    ring finger protein 214provided by HGNC
    Primary source
    HGNC:HGNC:25335
    See related
    Ensembl:ENSG00000167257 AllianceGenome:HGNC:25335
    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
    Summary
    Predicted to enable ubiquitin-protein transferase activity. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 13.2), thyroid (RPKM 7.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RNF214 in Genome Data Viewer
    Location:
    11q23.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (117232671..117286454)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (117247969..117303259)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (117103387..117157170)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100652768 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117066811-117067310 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:117068643-117069306 Neighboring gene SID1 transmembrane family member 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117072631-117073294 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:117076473-117077103 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:117077104-117077734 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:117077735-117078365 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117079206-117079706 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117079707-117080207 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:117088224-117089423 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117089878-117090378 Neighboring gene transgelin Neighboring gene proprotein convertase subtilisin/kexin type 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5569 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5570 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3935 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3934 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117106511-117107012 Neighboring gene Sharpr-MPRA regulatory region 1788 Neighboring gene small Cajal body-specific RNA 11 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:117139693-117140239 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:117159860-117161059 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:117170345-117170906 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:117170907-117171468 Neighboring gene BACE1 antisense RNA Neighboring gene beta-secretase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117184838-117185360 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117185361-117185882 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3936 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3937 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3938 Neighboring gene centrosomal protein 164 Neighboring gene proline rich 13 pseudogene 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
    • 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. Genetic determinants of cardiovascular events among women with migraine: a genome-wide association study. Schürks M, et al. PLoS One, 2011. PMID 21779381, Free PMC Article
    2. Genome-Wide CRISPR-Cas9 Screens Expose Genetic Vulnerabilities and Mechanisms of Temozolomide Sensitivity in Glioblastoma Stem Cells. MacLeod G, et al. Cell Rep, 2019 Apr 16. PMID 30995489
    3. Global analysis of host-pathogen interactions that regulate early-stage HIV-1 replication. König R, et al. Cell, 2008 Oct 3. PMID 18854154, Free PMC Article
    4. Comprehensive Proteomic Analysis of PGC7-Interacting Proteins. Liu H, et al. J Proteome Res, 2017 Sep 1. PMID 28712289
    5. Proximity labeling reveals dynamic changes in the SQSTM1 protein network. Rondón-Ortiz AN, et al. J Biol Chem, 2024 Sep. PMID 39098523, Free PMC Article

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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
    Genetic determinants of cardiovascular events among women with migraine: a genome-wide association study.
    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)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of ring finger protein 214 (RNF214) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp547C195

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ubiquitin-protein transferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    RING finger protein 214

    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_001077239.2 → NP_001070707.1  RING finger protein 214 isoform 1

      See identical proteins and their annotated locations for NP_001070707.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) and variant 2 encode the same isoform (1).
      Source sequence(s)
      AP000892, BC064581, CN395747
      Consensus CDS
      CCDS41720.1
      UniProtKB/Swiss-Prot
      B2RUW0, B4DTD1, Q8ND24
      Related
      ENSP00000431643.1, ENST00000531452.5
      Conserved Domains (1) summary
      pfam13639
      Location:654 → 699
      zf-RING_2; Ring finger domain

    2. NM_001278249.2 → NP_001265178.1  RING finger protein 214 isoform 2

      See identical proteins and their annotated locations for NP_001265178.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has an alternate splice site in the 5' coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AK300160, AL834448, AP000892
      Consensus CDS
      CCDS60976.1
      UniProtKB/TrEMBL
      E9PN76
      Related
      ENSP00000435361.1, ENST00000531287.5
      Conserved Domains (1) summary
      pfam13639
      Location:499 → 544
      zf-RING_2; Ring finger domain

    3. NM_207343.4 → NP_997226.2  RING finger protein 214 isoform 1

      See identical proteins and their annotated locations for NP_997226.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an alternate 5' UTR exon, compared to variant 1. Both variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AK298923, AP000892, BX111206, DC423629
      Consensus CDS
      CCDS41720.1
      UniProtKB/Swiss-Prot
      B2RUW0, B4DTD1, Q8ND24
      Related
      ENSP00000300650.4, ENST00000300650.9
      Conserved Domains (1) summary
      pfam13639
      Location:654 → 699
      zf-RING_2; Ring finger domain

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      117232671..117286454
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      117247969..117303259
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8ND24.2 GenPept UniProtKB/Swiss-Prot:Q8ND24

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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