U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 285533, updated on 5-Mar-2024

Summary

Go to the top of the page Help
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 ubiquitin-dependent ERAD pathway. Predicted to be integral component of membrane. Predicted to be active in Golgi membrane and endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in appendix (RPKM 5.6), brain (RPKM 2.9) and 18 other tissues See more
Orthologs
all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
4q31.3
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (153710160..153760024, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (157034616..157084499, complement)
105.20220307 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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

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

Go to the top of the page Help

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

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help
Preferred Names
RING finger protein 175

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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.

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_2023_10

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.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous