This gene encodes a member of the RING finger protein family of transcription factors. The protein is primarily expressed in brain. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] See more...

Aliases for RNF112 Gene

Aliases for RNF112 Gene

  • Ring Finger Protein 112 2 3 5
  • Zinc Finger Protein 179 2 3 4
  • RING Finger Protein 112 3 4
  • Brain Finger Protein 3 4
  • Neurolastin 2 3
  • ZNF179 3 4
  • BFP 3 4
  • EC 2.3.2.27 4

External Ids for RNF112 Gene

Previous HGNC Symbols for RNF112 Gene

  • ZNF179

Previous GeneCards Identifiers for RNF112 Gene

  • GC17P019257
  • GC17P018694
  • GC17P019314

Summaries for RNF112 Gene

Entrez Gene Summary for RNF112 Gene

  • This gene encodes a member of the RING finger protein family of transcription factors. The protein is primarily expressed in brain. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]

GeneCards Summary for RNF112 Gene

RNF112 (Ring Finger Protein 112) is a Protein Coding gene. Diseases associated with RNF112 include Smith-Magenis Syndrome and Gummatous Syphilis. Gene Ontology (GO) annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is ATL1.

UniProtKB/Swiss-Prot Summary for RNF112 Gene

  • E3 ubiquitin-protein ligase that plays an important role in neuronal differentiation, including neurogenesis and gliogenesis, during brain development. During embryonic development initiates neuronal differentiation by inducing cell cycle arrest at the G0/G1 phase through up-regulation of cell-cycle regulatory proteins (PubMed:28684796). Plays a role not only in the fetal period during the development of the nervous system, but also in the adult brain, where it is involved in the maintenance of neural functions and protection of the nervous tissue cells from oxidative stress-induced damage. Exhibits GTPase and E3 ubiquitin-protein ligase activities. Regulates dendritic spine density and synaptic neurotransmission; its ability to hydrolyze GTP is involved in the maintenance of dendritic spine density (By similarity).

Additional gene information for RNF112 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RNF112 Gene

Genomics for RNF112 Gene

GeneHancer (GH) Regulatory Elements for RNF112 Gene

Promoters and enhancers for RNF112 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 RNF112 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RNF112

Top Transcription factor binding sites by QIAGEN in the RNF112 gene promoter:
  • AhR
  • Bach2
  • HOXA9
  • HOXA9B
  • ITF-2
  • Meis-1
  • Meis-1b
  • SRF
  • SRF (504 AA)
  • Tal-1beta

Genomic Locations for RNF112 Gene

Genomic Locations for RNF112 Gene
chr17:19,410,790-19,417,276
(GRCh38/hg38)
Size:
6,487 bases
Orientation:
Plus strand
chr17:19,314,438-19,320,589
(GRCh37/hg19)
Size:
6,152 bases
Orientation:
Plus strand

Genomic View for RNF112 Gene

Genes around RNF112 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RNF112 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RNF112 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RNF112 Gene

Proteins for RNF112 Gene

  • Protein details for RNF112 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9ULX5-RN112_HUMAN
    Recommended name:
    RING finger protein 112
    Protein Accession:
    Q9ULX5
    Secondary Accessions:
    • O60633
    • Q7Z5V9

    Protein attributes for RNF112 Gene

    Size:
    631 amino acids
    Molecular mass:
    68298 Da
    Quaternary structure:
    • Self-associates. Interacts with SP1 in an oxidative stress-regulated manner. Interacts with SIGMAR1 in an oxidative stress-regulated manner. Interacts with ZBTB16 (via C2H2-type zinc finger domains 1 and 2).

    Alternative splice isoforms for RNF112 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RNF112 Gene

Post-translational modifications for RNF112 Gene

Other Protein References for RNF112 Gene

No data available for DME Specific Peptides for RNF112 Gene

Domains & Families for RNF112 Gene

Gene Families for RNF112 Gene

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

Protein Domains for RNF112 Gene

Suggested Antigen Peptide Sequences for RNF112 Gene

GenScript: Design optimal peptide antigens:
  • Ring finger protein 112 (Q7Z5V9_HUMAN)
  • Zinc finger protein 179 (RN112_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9ULX5

UniProtKB/Swiss-Prot:

RN112_HUMAN :
  • Belongs to the TRAFAC class dynamin-like GTPase superfamily. GB1/RHD3-type GTPase family. GB1 subfamily.
Family:
  • Belongs to the TRAFAC class dynamin-like GTPase superfamily. GB1/RHD3-type GTPase family. GB1 subfamily.
genes like me logo Genes that share domains with RNF112: view

Function for RNF112 Gene

Molecular function for RNF112 Gene

UniProtKB/Swiss-Prot Function:
E3 ubiquitin-protein ligase that plays an important role in neuronal differentiation, including neurogenesis and gliogenesis, during brain development. During embryonic development initiates neuronal differentiation by inducing cell cycle arrest at the G0/G1 phase through up-regulation of cell-cycle regulatory proteins (PubMed:28684796). Plays a role not only in the fetal period during the development of the nervous system, but also in the adult brain, where it is involved in the maintenance of neural functions and protection of the nervous tissue cells from oxidative stress-induced damage. Exhibits GTPase and E3 ubiquitin-protein ligase activities. Regulates dendritic spine density and synaptic neurotransmission; its ability to hydrolyze GTP is involved in the maintenance of dendritic spine density (By similarity).
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=. ;.

Enzyme Numbers (IUBMB) for RNF112 Gene

Phenotypes From GWAS Catalog for RNF112 Gene

Gene Ontology (GO) - Molecular Function for RNF112 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IBA,ISS --
GO:0005525 GTP binding IBA,ISS --
GO:0008270 zinc ion binding NAS 8660987
GO:0016740 transferase activity IEA --
GO:0043621 protein self-association ISS,IEA --
genes like me logo Genes that share ontologies with RNF112: view
genes like me logo Genes that share phenotypes with RNF112: view

Animal Models for RNF112 Gene

MGI Knock Outs for RNF112:
  • Rnf112 Rnf112<tm1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RNF112

Clone Products

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for RNF112 Gene

Localization for RNF112 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RNF112 Gene

Membrane; Multi-pass membrane protein. Membrane; Peripheral membrane protein. Cytoplasm. Nucleus. Nucleus, nuclear body. Nucleus, nucleoplasm. Endosome. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle. Cell junction, synapse, postsynaptic density. Perikaryon. Cell projection, neuron projection. Note=Predominantly in the nucleus, but some amounts were also found in the cytoplasm. Oxidative stress stimulates its shuttling from the cytoplasm into the nucleus. Recruited to nuclear bodies via its interaction with ZBTB16. Localizes to the cell soma and neuritis and only slightly to the nucleus in the neurons of most brain areas. {ECO:0000250 UniProtKB:Q96DY5}.

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 RNF112 gene
Compartment Confidence
nucleus 5
plasma membrane 4
endosome 4
mitochondrion 3
cytosol 3
extracellular 2
cytoskeleton 2
peroxisome 2
endoplasmic reticulum 2
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RNF112 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005654 nucleoplasm ISS --
GO:0005737 cytoplasm ISS --
GO:0005768 endosome ISS --
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with RNF112: view

Pathways & Interactions for RNF112 Gene

PathCards logo

SuperPathways for RNF112 Gene

No Data Available

UniProtKB/Swiss-Prot Q9ULX5-RN112_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for RNF112 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007029 endoplasmic reticulum organization IBA 21873635
GO:0007050 cell cycle arrest IDA 28684796
GO:0007399 nervous system development IEA --
GO:0016567 protein ubiquitination IEA --
GO:0030182 neuron differentiation IEA,IDA 28684796
genes like me logo Genes that share ontologies with RNF112: view

No data available for Pathways by source and SIGNOR curated interactions for RNF112 Gene

Drugs & Compounds for RNF112 Gene

No Compound Related Data Available

Transcripts for RNF112 Gene

mRNA/cDNA for RNF112 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
5 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 RNF112

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RNF112 Gene

No ASD Table

Relevant External Links for RNF112 Gene

GeneLoc Exon Structure for
RNF112

Expression for RNF112 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RNF112 Gene

mRNA differential expression in normal tissues according to GTEx for RNF112 Gene

This gene is overexpressed in Brain - Cerebellum (x8.5) and Brain - Cerebellar Hemisphere (x8.0).

Protein differential expression in normal tissues from HIPED for RNF112 Gene

This gene is overexpressed in CD4 Tcells (64.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RNF112 Gene



Protein tissue co-expression partners for RNF112 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RNF112

SOURCE GeneReport for Unigene cluster for RNF112 Gene:

Hs.189482

mRNA Expression by UniProt/SwissProt for RNF112 Gene:

Q9ULX5-RN112_HUMAN
Tissue specificity: Predominantly expressed in brain (PubMed:10574464). Decreased expression in glioma brain tumors as compared to normal brains (at protein level) (PubMed:28684796).

Evidence on tissue expression from TISSUES for RNF112 Gene

  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with RNF112: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for RNF112 Gene

Orthologs for RNF112 Gene

This gene was present in the common ancestor of animals.

Orthologs for RNF112 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RNF112 30
  • 99.63 (n)
dog
(Canis familiaris)
Mammalia RNF112 31 30
  • 86.84 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RNF112 31 30
  • 84.85 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rnf112 30
  • 84.39 (n)
mouse
(Mus musculus)
Mammalia Rnf112 17 31 30
  • 84.29 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 41 (a)
OneToMany
-- 31
  • 40 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 40 (a)
OneToMany
-- 31
  • 40 (a)
OneToMany
-- 31
  • 39 (a)
OneToMany
-- 31
  • 36 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia RNF112 31
  • 36 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rnf112 30
  • 51.09 (n)
zebrafish
(Danio rerio)
Actinopterygii RNF112 31
  • 13 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta atl 31
  • 19 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea atln-1 31
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 15 (a)
OneToMany
Species where no ortholog for RNF112 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)
  • chicken (Gallus gallus)
  • 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 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 RNF112 Gene

ENSEMBL:
Gene Tree for RNF112 (if available)
TreeFam:
Gene Tree for RNF112 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RNF112: view image

Paralogs for RNF112 Gene

Paralogs for RNF112 Gene

(5) SIMAP similar genes for RNF112 Gene using alignment to 2 proteins:

  • RN112_HUMAN
  • J3QRB8_HUMAN
genes like me logo Genes that share paralogs with RNF112: view

Variants for RNF112 Gene

Additional dbSNP identifiers (rs#s) for RNF112 Gene

Structural Variations from Database of Genomic Variants (DGV) for RNF112 Gene

Variant ID Type Subtype PubMed ID
esv3582561 CNV loss 25503493
nsv1061317 CNV gain 25217958

Variation tolerance for RNF112 Gene

Residual Variation Intolerance Score: 45.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.53; 29.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RNF112 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RNF112

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RNF112 Gene

Disorders for RNF112 Gene

MalaCards: The human disease database

(6) MalaCards diseases for RNF112 Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RNF112

genes like me logo Genes that share disorders with RNF112: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RNF112 Gene

Publications for RNF112 Gene

  1. Chromosome mapping of human (ZNF179), mouse, and rat genes for brain finger protein (bfp), a member of the RING finger family. (PMID: 8660987) Matsuda Y … Hori T (Genomics 1996) 2 3 4 23 54
  2. Molecular cloning, localization, and developmental expression of mouse brain finger protein (Bfp)/ZNF179: distribution of bfp mRNA partially coincides with the affected areas of Smith-Magenis syndrome. (PMID: 9806830) Orimo A … Muramatsu M (Genomics 1998) 2 3 23 54
  3. Znf179 induces differentiation and growth arrest of human primary glioblastoma multiforme in a p53-dependent cell cycle pathway. (PMID: 28684796) Lee KH … Huang CC (Scientific reports 2017) 3 4 54
  4. Neurolastin, a Dynamin Family GTPase, Regulates Excitatory Synapses and Spine Density. (PMID: 26212327) Lomash RM … Roche KW (Cell reports 2015) 2 3 54
  5. cDNA cloning of a human brain finger protein, BFP/ZNF179, a member of the RING finger protein family. (PMID: 10574464) Seki N … Saito T (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 3 4 54

Products for RNF112 Gene

Sources for RNF112 Gene