Aliases for RNFT1 Gene

Aliases for RNFT1 Gene

  • Ring Finger Protein, Transmembrane 1 2 3 5
  • RING Finger And Transmembrane Domain-Containing Protein 1 3 4
  • E3 Ubiquitin-Protein Ligase RNFT1 3 4
  • Protein PTD016 4
  • EC 2.3.2.27 4
  • PTD016 3

External Ids for RNFT1 Gene

Previous GeneCards Identifiers for RNFT1 Gene

  • GC17M055387
  • GC17M058029
  • GC17M053402

Summaries for RNFT1 Gene

GeneCards Summary for RNFT1 Gene

RNFT1 (Ring Finger Protein, Transmembrane 1) is a Protein Coding gene. An important paralog of this gene is RNFT2.

UniProtKB/Swiss-Prot Summary for RNFT1 Gene

  • E3 ubiquitin-protein ligase that acts in the endoplasmic reticulum (ER)-associated degradation (ERAD) pathway, which targets misfolded proteins that accumulate in the endoplasmic reticulum (ER) for ubiquitination and subsequent proteasome-mediated degradation. Protects cells from ER stress-induced apoptosis.

Additional gene information for RNFT1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RNFT1 Gene

Genomics for RNFT1 Gene

GeneHancer (GH) Regulatory Elements for RNFT1 Gene

Promoters and enhancers for RNFT1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RNFT1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RNFT1 gene promoter:
  • aMEF-2
  • Egr-4
  • GR
  • MEF-2A
  • Pax-4a
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for RNFT1 Gene

Genomic Locations for RNFT1 Gene
chr17:59,952,240-59,964,761
(GRCh38/hg38)
Size:
12,522 bases
Orientation:
Minus strand
chr17:58,029,601-58,042,122
(GRCh37/hg19)
Size:
12,522 bases
Orientation:
Minus strand

Genomic View for RNFT1 Gene

Genes around RNFT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RNFT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RNFT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RNFT1 Gene

Proteins for RNFT1 Gene

  • Protein details for RNFT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5M7Z0-RNFT1_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase RNFT1
    Protein Accession:
    Q5M7Z0
    Secondary Accessions:
    • Q8N7D0
    • Q96IZ9
    • Q9Y686

    Protein attributes for RNFT1 Gene

    Size:
    435 amino acids
    Molecular mass:
    49710 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAD43009.1; Type=Frameshift; Positions=150, 167; Evidence={ECO:0000305}; Sequence=BAC05364.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for RNFT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RNFT1 Gene

Post-translational modifications for RNFT1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RNFT1 Gene

No data available for DME Specific Peptides for RNFT1 Gene

Domains & Families for RNFT1 Gene

Gene Families for RNFT1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for RNFT1 Gene

Suggested Antigen Peptide Sequences for RNFT1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59255, highly similar to Homo sapiens PTD016 protein, mRNA (B4DJR4_HUMAN)
  • Protein PTD016 (RNFT1_HUMAN)
genes like me logo Genes that share domains with RNFT1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RNFT1 Gene

Function for RNFT1 Gene

Molecular function for RNFT1 Gene

UniProtKB/Swiss-Prot Function:
E3 ubiquitin-protein ligase that acts in the endoplasmic reticulum (ER)-associated degradation (ERAD) pathway, which targets misfolded proteins that accumulate in the endoplasmic reticulum (ER) for ubiquitination and subsequent proteasome-mediated degradation. Protects cells from ER stress-induced apoptosis.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27; Evidence=. ;.
UniProtKB/Swiss-Prot Induction:
Up-regulated by endoplasmic reticulum (ER) stress triggered by thapsigargin or tunicamycin.

Enzyme Numbers (IUBMB) for RNFT1 Gene

Phenotypes From GWAS Catalog for RNFT1 Gene

Gene Ontology (GO) - Molecular Function for RNFT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016740 transferase activity IEA --
GO:0043130 ubiquitin binding IDA 27485036
GO:0046872 metal ion binding IEA --
GO:0061630 ubiquitin protein ligase activity IDA 27485036
genes like me logo Genes that share ontologies with RNFT1: view
genes like me logo Genes that share phenotypes with RNFT1: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RNFT1 Gene

Localization for RNFT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RNFT1 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RNFT1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 2
nucleus 2
extracellular 1
cytoskeleton 1
peroxisome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RNFT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 27485036
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with RNFT1: view

Pathways & Interactions for RNFT1 Gene

PathCards logo

SuperPathways for RNFT1 Gene

No Data Available

UniProtKB/Swiss-Prot Q5M7Z0-RNFT1_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for RNFT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination IEA --
GO:0051865 protein autoubiquitination IDA 27485036
GO:1904294 positive regulation of ERAD pathway IMP 27485036
genes like me logo Genes that share ontologies with RNFT1: view

No data available for Pathways by source and SIGNOR curated interactions for RNFT1 Gene

Drugs & Compounds for RNFT1 Gene

No Compound Related Data Available

Transcripts for RNFT1 Gene

mRNA/cDNA for RNFT1 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RNFT1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14 ^ 15 ^ 16 ^ 17
SP1:
SP2:
SP3: -
SP4:
SP5:
SP6: - - -

Relevant External Links for RNFT1 Gene

GeneLoc Exon Structure for
RNFT1
ECgene alternative splicing isoforms for
RNFT1

Expression for RNFT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RNFT1 Gene

mRNA differential expression in normal tissues according to GTEx for RNFT1 Gene

This gene is overexpressed in Testis (x5.0).

Protein differential expression in normal tissues from HIPED for RNFT1 Gene

This gene is overexpressed in Plasma (58.0) and Testis (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RNFT1 Gene



Protein tissue co-expression partners for RNFT1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RNFT1 Gene:

RNFT1

SOURCE GeneReport for Unigene cluster for RNFT1 Gene:

Hs.531701

mRNA Expression by UniProt/SwissProt for RNFT1 Gene:

Q5M7Z0-RNFT1_HUMAN
Tissue specificity: Expressed at highest levels in testis, lower levels in heart, liver, lung, and kidney (PubMed:17074343). Not detected in brain, ovary, and uterus (PubMed:17074343). Down-regulated in testis from patients with maturation arrest (MA) or Sertoli cell-only syndrome (SCOS) (PubMed:17074343). Ubiquitously expressed with high expression in testis (PubMed:27485036).

Evidence on tissue expression from TISSUES for RNFT1 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with RNFT1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for RNFT1 Gene

Orthologs for RNFT1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RNFT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RNFT1 33 32
  • 99.77 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RNFT1 33 32
  • 91.94 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rnft1 17 33 32
  • 87.26 (n)
cow
(Bos Taurus)
Mammalia RNFT1 33
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rnft1 32
  • 86.4 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RNFT1 33
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RNFT1 33
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves RNFT1 33 32
  • 72.5 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RNFT1 33
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rnft1 32
  • 67.01 (n)
Str.9619 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.34003 32
zebrafish
(Danio rerio)
Actinopterygii rnft1 33 32
  • 58.86 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG13605 33
  • 13 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ZC13.1 33
  • 17 (a)
OneToMany
Species where no ortholog for RNFT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RNFT1 Gene

ENSEMBL:
Gene Tree for RNFT1 (if available)
TreeFam:
Gene Tree for RNFT1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RNFT1: view image

Paralogs for RNFT1 Gene

Paralogs for RNFT1 Gene

(2) SIMAP similar genes for RNFT1 Gene using alignment to 5 proteins:

  • RNFT1_HUMAN
  • B4DJR4_HUMAN
  • E9PI44_HUMAN
  • H0YEZ8_HUMAN
  • K7EJ18_HUMAN

Pseudogenes.org Pseudogenes for RNFT1 Gene

genes like me logo Genes that share paralogs with RNFT1: view

Variants for RNFT1 Gene

Sequence variations from dbSNP and Humsavar for RNFT1 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000522282 -- 59,957,023(-) C/T intron_variant
rs1000553592 -- 59,960,488(-) G/A intron_variant
rs1000834952 -- 59,966,268(-) C/T upstream_transcript_variant
rs1000888696 -- 59,965,980(-) C/T upstream_transcript_variant
rs1001327092 -- 59,959,227(-) C/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for RNFT1 Gene

Variant ID Type Subtype PubMed ID
esv2758700 CNV gain+loss 17122850
nsv428348 CNV gain 18775914
nsv471544 CNV gain 19718026
nsv471702 CNV gain 15918152
nsv833502 CNV gain 17160897
nsv9577 CNV gain 18304495

Variation tolerance for RNFT1 Gene

Residual Variation Intolerance Score: 83% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.88; 35.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RNFT1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RNFT1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RNFT1 Gene

Disorders for RNFT1 Gene

Additional Disease Information for RNFT1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for RNFT1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RNFT1 Gene

Publications for RNFT1 Gene

  1. Genome-wide identification and gene expression profiling of ubiquitin ligases for endoplasmic reticulum protein degradation. (PMID: 27485036) Kaneko M … Nomura Y (Scientific reports 2016) 2 3 4 56
  2. TRIM59 deficiency curtails breast cancer metastasis through SQSTM1-selective autophagic degradation of PDCD10. (PMID: 30653426) Tan P … Zhou Y (Autophagy 2019) 2 3 56
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 43 56
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56
  5. A negative genetic interaction map in isogenic cancer cell lines reveals cancer cell vulnerabilities. (PMID: 24104479) Vizeacoumar FJ … Moffat J (Molecular systems biology 2013) 3 56

Products for RNFT1 Gene

Sources for RNFT1 Gene