Aliases for RESF1 Gene

Aliases for RESF1 Gene

  • Retroelement Silencing Factor 1 2 3 4 5
  • KIAA1551 2 3 4
  • Gonad Expressed Transcript 2 3
  • C12orf35 3 4
  • Chromosome 12 Open Reading Frame 35 2
  • Uncharacterized Protein C12orf35 3
  • UTA2-1 3
  • GET 3

External Ids for RESF1 Gene

Previous HGNC Symbols for RESF1 Gene

  • C12orf35
  • KIAA1551

Previous GeneCards Identifiers for RESF1 Gene

  • GC12P031968
  • GC12P031970
  • GC12P031974
  • GC12P031966

Summaries for RESF1 Gene

GeneCards Summary for RESF1 Gene

RESF1 (Retroelement Silencing Factor 1) is a Protein Coding gene. Diseases associated with RESF1 include Malignant Granular Cell Myoblastoma.

UniProtKB/Swiss-Prot Summary for RESF1 Gene

  • Plays a role in the regulation of imprinted gene expression, regulates repressive epigenetic modifications associated with SETDB1. Required for the recruitment or accumulation of SETDB1 to the endogenous retroviruses (ERVs) and maintenance of repressive chromatin configuration, contributing to a subset of the SETDB1-dependent ERV silencing in embryonic stem cells.

Additional gene information for RESF1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RESF1 Gene

Genomics for RESF1 Gene

GeneHancer (GH) Regulatory Elements for RESF1 Gene

Promoters and enhancers for RESF1 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 RESF1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RESF1

Genomic Locations for RESF1 Gene

Genomic Locations for RESF1 Gene
chr12:31,959,370-31,993,107
(GRCh38/hg38)
Size:
33,738 bases
Orientation:
Plus strand
chr12:32,112,304-32,146,041
(GRCh37/hg19)
Size:
33,738 bases
Orientation:
Plus strand

Genomic View for RESF1 Gene

Genes around RESF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RESF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RESF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RESF1 Gene

Proteins for RESF1 Gene

  • Protein details for RESF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HCM1-RESF1_HUMAN
    Recommended name:
    Retroelement silencing factor 1
    Protein Accession:
    Q9HCM1
    Secondary Accessions:
    • B2RTU5
    • Q4KN17
    • Q9NVL6
    • Q9NWP9

    Protein attributes for RESF1 Gene

    Size:
    1747 amino acids
    Molecular mass:
    194857 Da
    Quaternary structure:
    • Interacts with SETDB1.
    SequenceCaution:
    • Sequence=BAA91330.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA91734.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB13377.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the C-terminal part.; Evidence={ECO:0000305};

neXtProt entry for RESF1 Gene

Post-translational modifications for RESF1 Gene

  • Ubiquitination at Lys8, Lys204, Lys233, Lys275, Lys299, Lys341, Lys390, Lys398, Lys404, Lys442, Lys450, Lys576, Lys658, Lys772, Lys777, Lys793, and Lys815
  • Modification sites at PhosphoSitePlus

Other Protein References for RESF1 Gene

No data available for DME Specific Peptides for RESF1 Gene

Domains & Families for RESF1 Gene

Gene Families for RESF1 Gene

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

Protein Domains for RESF1 Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with RESF1: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RESF1 Gene

Function for RESF1 Gene

Molecular function for RESF1 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in the regulation of imprinted gene expression, regulates repressive epigenetic modifications associated with SETDB1. Required for the recruitment or accumulation of SETDB1 to the endogenous retroviruses (ERVs) and maintenance of repressive chromatin configuration, contributing to a subset of the SETDB1-dependent ERV silencing in embryonic stem cells.

Phenotypes From GWAS Catalog for RESF1 Gene

Gene Ontology (GO) - Molecular Function for RESF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042393 histone binding ISS --
genes like me logo Genes that share ontologies with RESF1: view
genes like me logo Genes that share phenotypes with RESF1: view

Animal Model Products

CRISPR Products

miRNA for RESF1 Gene

miRTarBase miRNAs that target RESF1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RESF1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RESF1 Gene

Localization for RESF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RESF1 Gene

Nucleus. Note=Localizes around gamma-tubulin during M phase. {ECO:0000250 UniProtKB:Q5DTW7}.

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 RESF1 gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 2
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
  • Cytosol (2)
  • Intermediate filaments (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RESF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000930 colocalizes_with gamma-tubulin complex ISS --
GO:0005634 nucleus ISS --
genes like me logo Genes that share ontologies with RESF1: view

Pathways & Interactions for RESF1 Gene

PathCards logo

SuperPathways for RESF1 Gene

No Data Available

Interacting Proteins for RESF1 Gene

;

Gene Ontology (GO) - Biological Process for RESF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045869 negative regulation of single stranded viral RNA replication via double stranded DNA intermediate ISS --
GO:0090309 positive regulation of methylation-dependent chromatin silencing ISS --
genes like me logo Genes that share ontologies with RESF1: view

No data available for Pathways by source and SIGNOR curated interactions for RESF1 Gene

Drugs & Compounds for RESF1 Gene

No Compound Related Data Available

Transcripts for RESF1 Gene

mRNA/cDNA for RESF1 Gene

1 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RESF1

Alternative Splicing Database (ASD) splice patterns (SP) for RESF1 Gene

No ASD Table

Relevant External Links for RESF1 Gene

GeneLoc Exon Structure for
RESF1

Expression for RESF1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RESF1

SOURCE GeneReport for Unigene cluster for RESF1 Gene:

Hs.445129

Evidence on tissue expression from TISSUES for RESF1 Gene

  • Spleen(2.1)
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RESF1 Gene

Orthologs for RESF1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RESF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIAA1551 31 30
  • 99.26 (n)
OneToOne
cow
(Bos Taurus)
Mammalia C5H12orf35 30
  • 78.33 (n)
KIAA1551 31
  • 62 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C27H12orf35 30
  • 78.2 (n)
KIAA1551 31
  • 63 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 2810474O19Rik 31 30
  • 70.52 (n)
OneToOne
Resf1 17
rat
(Rattus norvegicus)
Mammalia RGD1309621 30
  • 69.74 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KIAA1551 31
  • 44 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KIAA1551 31
  • 31 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIAA1551 31
  • 19 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KIAA1551 31
  • 17 (a)
OneToOne
Species where no ortholog for RESF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for RESF1 Gene

ENSEMBL:
Gene Tree for RESF1 (if available)
TreeFam:
Gene Tree for RESF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RESF1: view image

Paralogs for RESF1 Gene

Pseudogenes.org Pseudogenes for RESF1 Gene

genes like me logo Genes that share paralogs with RESF1: view

No data available for Paralogs for RESF1 Gene

Variants for RESF1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RESF1 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs1057994 - p.Val1226Ile
rs10771894 - p.Ser352Gly
rs12320740 - p.Ile202Val
rs16919122 - p.Arg309Gln
rs16919127 - p.Thr1010Lys

Additional dbSNP identifiers (rs#s) for RESF1 Gene

Structural Variations from Database of Genomic Variants (DGV) for RESF1 Gene

Variant ID Type Subtype PubMed ID
nsv558100 CNV gain 21841781

Variation tolerance for RESF1 Gene

Residual Variation Intolerance Score: 98.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.40; 92.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RESF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RESF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RESF1 Gene

Disorders for RESF1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RESF1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
malignant granular cell myoblastoma
  • granular cell tumor, malignant
- elite association - COSMIC cancer census association via MalaCards
Search RESF1 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with RESF1: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for RESF1 Gene

Publications for RESF1 Gene

  1. A CRISPR knockout screen identifies SETDB1-target retroelement silencing factors in embryonic stem cells. (PMID: 29728365) Fukuda K … Shinkai Y (Genome research 2018) 2 3 54
  2. Towards effective and safe immunotherapy after allogeneic stem cell transplantation: identification of hematopoietic-specific minor histocompatibility antigen UTA2-1. (PMID: 23079962) Oostvogels R … Mutis T (Leukemia 2013) 2 3 54
  3. Conserved expression of a novel gene during gonadal development. (PMID: 15861396) Hudson QJ … Sinclair AH (Developmental dynamics : an official publication of the American Association of Anatomists 2005) 2 3 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10997877) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4 54

Products for RESF1 Gene

Sources for RESF1 Gene