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    RNF175 ring finger protein 175 [ Homo sapiens (human) ]

    Gene ID: 285533, updated on 2-Nov-2024

    Summary

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    Official Symbol
    RNF175provided by HGNC
    Official Full Name
    ring finger protein 175provided by HGNC
    Primary source
    HGNC:HGNC:27735
    See related
    Ensembl:ENSG00000145428 AllianceGenome:HGNC:27735
    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 ligase activity. Predicted to be involved in ERAD pathway. Predicted to be located in membrane. Predicted to be active in Golgi membrane and endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in appendix (RPKM 5.6), brain (RPKM 2.9) and 18 other tissues See more
    Orthologs
    all
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    Genomic context

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    See RNF175 in Genome Data Viewer
    Location:
    4q31.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (153710160..153760024, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (157034616..157084499, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (154631312..154681176, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene transmembrane 131 like Neighboring gene uncharacterized LOC105377498 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:154455569-154456145 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:154456146-154456721 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:154457236-154457741 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15764 Neighboring gene toll like receptor 2 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:154561385-154561884 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15765 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15766 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15767 Neighboring gene uncharacterized LOC105377499 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_74840 Neighboring gene WD repeat domain 45 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 15425 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_74848 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:154710463-154711164 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:154711165-154711866 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_74856/74857 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:154713271-154713972 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_74859 Neighboring gene toll like receptor 2 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_74875 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_74882 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_74898 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_74905 Neighboring gene uncharacterized LOC101927947 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_74906 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_74908 Neighboring gene secreted frizzled related protein 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:154802179-154802342 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22072 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:154855107-154855606 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:154871827-154872023 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:154908563-154909762 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:154944484-154945005 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:154945006-154945526 Neighboring gene Sharpr-MPRA regulatory region 8445 Neighboring gene MPRA-validated peak5134 silencer Neighboring gene dachsous cadherin-related 2

    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. Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins. Postmus I, et al. Nat Commun, 2014 Oct 28. PMID 25350695, Free PMC Article
    2. MARCH8 Ubiquitinates the Hepatitis C Virus Nonstructural 2 Protein and Mediates Viral Envelopment. Kumar S, et al. Cell Rep, 2019 Feb 12. PMID 30759391, Free PMC Article
    3. Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph. Casabonne D, et al. Haematologica, 2011 Feb. PMID 21048031, Free PMC Article
    4. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. Hosgood HD 3rd, et al. Occup Environ Med, 2009 Dec. PMID 19773279, Free PMC Article
    5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.
    2. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    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
    Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins.
    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ34190

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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
    		  
    Process Evidence Code Pubs
    involved_in ERAD pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    RING finger protein 175

    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.

    Genomic

    1. NG_016386.2 RefSeqGene

      Range
      5000..54864
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_173662.4 → NP_775933.2  RING finger protein 175

      Status: VALIDATED

      Source sequence(s)
      AC020703, AC106865
      Consensus CDS
      CCDS47149.1
      UniProtKB/Swiss-Prot
      C9JL66, Q8N4F7, Q8NB61
      Related
      ENSP00000340979.4, ENST00000347063.9
      Conserved Domains (1) summary
      cd16475
      Location:225 → 279
      RING-H2_RNF121_like; RING finger, H2 subclass, found in RING finger proteins RNF121, RNF175 and similar proteins

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      153710160..153760024 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017008047.2 → XP_016863536.1  RING finger protein 175 isoform X7

    2. XM_005262939.4 → XP_005262996.1  RING finger protein 175 isoform X5

      See identical proteins and their annotated locations for XP_005262996.1

      Conserved Domains (1) summary
      pfam13639
      Location:145 → 197
      zf-RING_2; Ring finger domain

    3. XM_005262938.4 → XP_005262995.1  RING finger protein 175 isoform X2

      Conserved Domains (1) summary
      COG4776
      Location:217 → 287
      Rnb; Exoribonuclease II [Transcription]

    4. XM_011531879.3 → XP_011530181.1  RING finger protein 175 isoform X1

      Conserved Domains (1) summary
      pfam13639
      Location:193 → 245
      zf-RING_2; Ring finger domain

    5. XM_047450102.1 → XP_047306058.1  RING finger protein 175 isoform X3

    6. XM_005262940.5 → XP_005262997.1  RING finger protein 175 isoform X6

      Conserved Domains (1) summary
      pfam13639
      Location:144 → 196
      zf-RING_2; Ring finger domain

    7. XM_011531882.3 → XP_011530184.1  RING finger protein 175 isoform X4

      Conserved Domains (1) summary
      cl17238
      Location:225 → 255
      RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      157034616..157084499 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349761.1 → XP_054205736.1  RING finger protein 175 isoform X7

    2. XM_054349759.1 → XP_054205734.1  RING finger protein 175 isoform X5

    3. XM_054349756.1 → XP_054205731.1  RING finger protein 175 isoform X2

    4. XM_054349755.1 → XP_054205730.1  RING finger protein 175 isoform X1

    5. XM_054349757.1 → XP_054205732.1  RING finger protein 175 isoform X3

    6. XM_054349760.1 → XP_054205735.1  RING finger protein 175 isoform X6

    7. XM_054349758.1 → XP_054205733.1  RING finger protein 175 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N4F7.2 GenPept UniProtKB/Swiss-Prot:Q8N4F7

    Gene LinkOut

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

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