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Aliases for RNF113A Gene

Aliases for RNF113A Gene

  • Ring Finger Protein 113A 2 3 5
  • Zinc Finger Protein 183 (RING Finger, C3HC4 Type) 2 3
  • ZNF183 3 4
  • RNF113 3 4
  • Zinc Finger Protein 183 4
  • Cwc24 3
  • TTD5 3

External Ids for RNF113A Gene

Previous HGNC Symbols for RNF113A Gene

  • ZNF183

Previous GeneCards Identifiers for RNF113A Gene

  • GC0XM118787
  • GC0XM118888
  • GC0XM119004
  • GC0XM108497

Summaries for RNF113A Gene

Entrez Gene Summary for RNF113A Gene

  • This intronless gene encodes a protein which contains a C3H1-type zinc finger domain and a C3HC4 Ring-type (Really Interesting New Gene-type) zinc finger domain. The Ring-type zinc finger domain is identified in various tumor suppressors, DNA repair genes and cytokine receptor-associated molecules, and is probably involved in mediating protein-protein interactions. [provided by RefSeq, May 2010]

GeneCards Summary for RNF113A Gene

RNF113A (Ring Finger Protein 113A) is a Protein Coding gene. Diseases associated with RNF113A include Trichothiodystrophy 5, Nonphotosensitive and Trichothiodystrophy 1, Photosensitive. An important paralog of this gene is RNF113B.

Additional gene information for RNF113A Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RNF113A Gene

Genomics for RNF113A Gene

Regulatory Elements for RNF113A Gene

Enhancers for RNF113A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XH119821 0.8 Ensembl ENCODE 13.2 +50.0 49975 1.5 FOXA2 RFX1 FOXK2 NBN ELF1 ATF7 FOXJ2 RNF113A NDUFA1 UPF3B LOC100422368 RPL39
GH0XH119789 1.1 ENCODE 8.2 +80.6 80565 3.7 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 SP3 ZHX2 REST KAT8 EEF1A1P30 NKAP CUL4B UPF3B RNF113A GC0XM119789 SNORA69 RPL39 GC0XM119788
GH0XH119762 0.7 ENCODE 11.8 +108.4 108443 1.3 CEBPB ZNF223 ELF1 CEBPG TEAD3 ZNF121 ZFHX2 JUND GLIS1 IKZF1 RNF113A NDUFA1 UPF3B SLC25A43 SOWAHD GC0XM119788 SNORA69 GC0XM119789
GH0XH119674 2 FANTOM5 Ensembl ENCODE dbSUPER 4.1 +187.1 187125 20.2 HDGF PKNOX1 ARNT ZFP64 SIN3A ARID4B FEZF1 YY1 ZNF143 SP3 NKAPP1 EEF1A1P30 CUL4B NKAP SEPT6 NKRF UPF3B MIR766 CXorf56 SLC25A5-AS1
GH0XH119753 1.3 FANTOM5 ENCODE 6 +115.2 115249 5.9 HDGF PKNOX1 SIN3A ARID4B DMAP1 ZNF121 GLIS2 ZNF143 ATF7 KLF7 MIR766 EEF1A1P30 NKAPP1 SOWAHD UPF3B RNF113A NDUFA1 SEPT6 ZBTB33 PIR44405
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RNF113A on UCSC Golden Path with GeneCards custom track

Promoters for RNF113A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000248384 228 4000 PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF143 SP3 ZHX2

Genomic Locations for RNF113A Gene

Genomic Locations for RNF113A Gene
chrX:119,870,475-119,871,828
(GRCh38/hg38)
Size:
1,354 bases
Orientation:
Minus strand
chrX:119,004,495-119,005,791
(GRCh37/hg19)

Genomic View for RNF113A Gene

Genes around RNF113A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RNF113A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RNF113A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RNF113A Gene

Proteins for RNF113A Gene

  • Protein details for RNF113A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15541-R113A_HUMAN
    Recommended name:
    RING finger protein 113A
    Protein Accession:
    O15541
    Secondary Accessions:
    • B2RBR7

    Protein attributes for RNF113A Gene

    Size:
    343 amino acids
    Molecular mass:
    38787 Da
    Quaternary structure:
    No Data Available

neXtProt entry for RNF113A Gene

Post-translational modifications for RNF113A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RNF113A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RNF113A Gene

Domains & Families for RNF113A Gene

Gene Families for RNF113A Gene

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

Suggested Antigen Peptide Sequences for RNF113A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with RNF113A: view

No data available for UniProtKB/Swiss-Prot for RNF113A Gene

Function for RNF113A Gene

Gene Ontology (GO) - Molecular Function for RNF113A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22365833
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with RNF113A: view
genes like me logo Genes that share phenotypes with RNF113A: view

Human Phenotype Ontology for RNF113A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

miRNA for RNF113A Gene

miRTarBase miRNAs that target RNF113A

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for RNF113A Gene

Localization for RNF113A Gene

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 RNF113A gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for RNF113A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005684 U2-type spliceosomal complex IBA --
genes like me logo Genes that share ontologies with RNF113A: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for RNF113A Gene

Pathways & Interactions for RNF113A Gene

SuperPathways for RNF113A Gene

No Data Available

Gene Ontology (GO) - Biological Process for RNF113A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0034247 snoRNA splicing IBA --
GO:0045292 mRNA cis splicing, via spliceosome IBA --
genes like me logo Genes that share ontologies with RNF113A: view

No data available for Pathways by source and SIGNOR curated interactions for RNF113A Gene

Drugs & Compounds for RNF113A Gene

No Compound Related Data Available

Transcripts for RNF113A Gene

mRNA/cDNA for RNF113A Gene

(1) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RNF113A Gene

Ring finger protein 113A:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RNF113A Gene

No ASD Table

Relevant External Links for RNF113A Gene

GeneLoc Exon Structure for
RNF113A
ECgene alternative splicing isoforms for
RNF113A

Expression for RNF113A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RNF113A Gene

Protein differential expression in normal tissues from HIPED for RNF113A Gene

This gene is overexpressed in Peripheral blood mononuclear cells (19.4), CD8 Tcells (11.5), NK cells (6.9), and CD4 Tcells (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RNF113A Gene



Protein tissue co-expression partners for RNF113A Gene

NURSA nuclear receptor signaling pathways regulating expression of RNF113A Gene:

RNF113A

SOURCE GeneReport for Unigene cluster for RNF113A Gene:

Hs.458365

mRNA Expression by UniProt/SwissProt for RNF113A Gene:

O15541-R113A_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for RNF113A Gene

  • Liver(4.3)
  • Nervous system(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RNF113A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • outer ear
  • pituitary gland
  • skull
  • tooth
Thorax:
  • breast
  • bronchus
  • chest wall
  • lung
Abdomen:
  • intestine
  • large intestine
  • small intestine
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • nail
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with RNF113A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for RNF113A Gene

Orthologs for RNF113A Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RNF113A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RNF113A 34 33
  • 99.9 (n)
OneToOne
dog
(Canis familiaris)
Mammalia -- 34
  • 94 (a)
OneToMany
RNF113A 33
  • 91.84 (n)
-- 34
  • 77 (a)
OneToMany
cow
(Bos Taurus)
Mammalia RNF113A 34 33
  • 91.16 (n)
OneToMany
-- 34
  • 83 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Rnf113a1 34
  • 88 (a)
OneToOne
Rnf113a2 16 33
  • 85.07 (n)
rat
(Rattus norvegicus)
Mammalia Rnf113a2 33
  • 85.57 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 75 (a)
OneToMany
chicken
(Gallus gallus)
Aves RNF113A 34
  • 77 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 77 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii rnf113a 34
  • 72 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG4973 34
  • 52 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rnf-113 34
  • 38 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CWC24 34
  • 33 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 61 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8018 33
Species where no ortholog for RNF113A 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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 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)

Evolution for RNF113A Gene

ENSEMBL:
Gene Tree for RNF113A (if available)
TreeFam:
Gene Tree for RNF113A (if available)

Paralogs for RNF113A Gene

Paralogs for RNF113A Gene

(2) SIMAP similar genes for RNF113A Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with RNF113A: view

Variants for RNF113A Gene

Sequence variations from dbSNP and Humsavar for RNF113A Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs104894884 Pathogenic 119,871,933(+) TCCCC(C/G)GACTC upstream-variant-2KB, reference, missense
rs104894885 Pathogenic 119,873,312(+) AAAAG(A/C/G)GTTGC upstream-variant-2KB, reference, synonymous-codon, missense
rs1801316 Pathogenic 119,872,005(+) CTAAC(A/C/G)GGGGC upstream-variant-2KB, reference, missense
rs794726863 Pathogenic 119,870,713(+) CTGCT(A/G)GTCAC upstream-variant-2KB, reference, stop-gained
rs797044914 Likely pathogenic 119,873,328(+) TTGGG(C/T)ATCAC upstream-variant-2KB, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for RNF113A Gene

Variant ID Type Subtype PubMed ID
nsv7057 CNV insertion 18451855
esv2758888 CNV gain 17122850

Variation tolerance for RNF113A Gene

Residual Variation Intolerance Score: 48.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.81; 17.09% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RNF113A Gene

Human Gene Mutation Database (HGMD)
RNF113A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RNF113A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RNF113A Gene

Disorders for RNF113A Gene

MalaCards: The human disease database

(2) MalaCards diseases for RNF113A Gene - From: HGMD, OMIM, ClinVar, GeneTests, and DISEASES

Disorder Aliases PubMed IDs
trichothiodystrophy 5, nonphotosensitive
  • ttd5
trichothiodystrophy 1, photosensitive
  • amish brittle hair brain syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

R113A_HUMAN
  • Trichothiodystrophy 5, non-photosensitive (TTD5) [MIM:300953]: A X-linked form of trichothiodystrophy, a disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. TTD5 features include microcephaly, profound intellectual disability, sparse brittle hair, aged appearance, short stature, facial dysmorphism, seizures, an immunoglobulin deficiency, multiple endocrine abnormalities, cerebellar hypoplasia and partial absence of the corpus callosum, in the absence of cellular photosensitivity and ichthyosis. {ECO:0000269 PubMed:25612912}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RNF113A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RNF113A
genes like me logo Genes that share disorders with RNF113A: view

No data available for Genatlas for RNF113A Gene

Publications for RNF113A Gene

  1. Identification of a new member (ZNF183) of the Ring finger gene family in Xq24-25. (PMID: 9224902) Frattini A … Vezzoni P (Gene 1997) 2 3 4 60
  2. A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A. (PMID: 25612912) Corbett MA … Field M (Journal of medical genetics 2015) 3 4 60
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 60
  4. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4 60
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60

Products for RNF113A Gene

Sources for RNF113A Gene

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