Aliases for ZFC3H1 Gene

Aliases for ZFC3H1 Gene

  • Zinc Finger C3H1-Type Containing 2 3 5
  • Zinc Finger C3H1 Domain-Containing Protein 3 4
  • Coiled-Coil Domain-Containing Protein 131 3 4
  • Proline/Serine-Rich Coiled-Coil Protein 2 3 4
  • Proline/Serine-Rich Coiled-Coil 2 2 3
  • Coiled-Coil Domain Containing 131 2 3
  • KIAA0546 2 4
  • CCDC131 3 4
  • CSRC2 2 3
  • PSRC2 3 4
  • MGC23401 2
  • ZFC3H1 5

External Ids for ZFC3H1 Gene

Previous HGNC Symbols for ZFC3H1 Gene

  • PSRC2
  • CCDC131

Previous GeneCards Identifiers for ZFC3H1 Gene

  • GC12M070292
  • GC12M072003
  • GC12M069052

Summaries for ZFC3H1 Gene

GeneCards Summary for ZFC3H1 Gene

ZFC3H1 (Zinc Finger C3H1-Type Containing) is a Protein Coding gene. Diseases associated with ZFC3H1 include Juxtacortical Chondroma and Chondroblastic Osteosarcoma.

UniProtKB/Swiss-Prot Summary for ZFC3H1 Gene

  • Subunit of the trimeric poly(A) tail exosome targeting (PAXT) complex, a complex that directs a subset of long and polyadenylated poly(A) RNAs for exosomal degradation. The RNA exosome is fundamental for the degradation of RNA in eukaryotic nuclei. Substrate targeting is facilitated by its cofactor MTREX, which links to RNA-binding protein adapters.

Additional gene information for ZFC3H1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZFC3H1 Gene

Genomics for ZFC3H1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ZFC3H1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J071661 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 619 +4.3 4310 5.6 BRCA1 ARHGAP35 SP1 CREB1 PRDM10 ZNF629 SIX5 IKZF1 CTCF ZNF692 ZFC3H1 THAP2 TMEM19 ENSG00000257515 LOC107984529 lnc-ZFC3H1-10 TSPAN8
GH12J071667 Enhancer 0.4 Ensembl dbSUPER 600.7 +0.1 124 0.4 ATF2 ZFC3H1 lnc-ZFC3H1-10 THAP2
GH12J071668 Enhancer 0.2 dbSUPER 600.7 -1.3 -1282 1.3 ZFC3H1 lnc-ZFC3H1-10 THAP2 ENSG00000258064
GH12J071438 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 17.3 +227.2 227229 3.6 CEBPG HNRNPL CREB1 GATAD2A ATF7 PRDM10 ZNF629 TFE3 LEF1 SOX13 LGR5 TSPAN8 ZFC3H1
GH12J071754 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 15.8 -88.0 -87976 3.4 SP1 HNRNPL CREB1 GATAD2A TEAD4 PRDM10 REST ZNF629 TFE3 LEF1 RAB21 ZFC3H1 RF00017-1185 TBC1D15
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ZFC3H1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZFC3H1

Top Transcription factor binding sites by QIAGEN in the ZFC3H1 gene promoter:
  • AML1a
  • FOXO1
  • FOXO1a
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Pax-4a
  • POU2F1
  • POU2F1a

Genomic Locations for ZFC3H1 Gene

Genomic Locations for ZFC3H1 Gene
chr12:71,609,599-71,667,725
(GRCh38/hg38)
Size:
58,127 bases
Orientation:
Minus strand
chr12:72,003,252-72,061,505
(GRCh37/hg19)
Size:
58,254 bases
Orientation:
Minus strand

Genomic View for ZFC3H1 Gene

Genes around ZFC3H1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZFC3H1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZFC3H1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZFC3H1 Gene

Proteins for ZFC3H1 Gene

  • Protein details for ZFC3H1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60293-ZC3H1_HUMAN
    Recommended name:
    Zinc finger C3H1 domain-containing protein
    Protein Accession:
    O60293
    Secondary Accessions:
    • Q6GMU1
    • Q6P2S9
    • Q6ZV36
    • Q96BE7

    Protein attributes for ZFC3H1 Gene

    Size:
    1989 amino acids
    Molecular mass:
    226356 Da
    Quaternary structure:
    • Component of the poly(A) tail exosome targeting (PAXT) complex made of accessory factors, such as PABPN1, ZFC3H1 and MTREX, and which directs a subset of long and polyadenylated poly(A) RNAs for exosomal degradation (PubMed:27871484). Co-localizes with component of the CBC-ARS2 (CBCA) complex. Binds to RNA exosome components. Interacts with NCBP1/CBP80, ZC3H18, MTREX and PABPN1 in a RNase-insensitive manner, and with PABPC4, PABPC1 and ZC3H14 in a RNase-sensitive manner (PubMed:27871484).
    SequenceCaution:
    • Sequence=BAA25472.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC86028.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ZFC3H1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ZFC3H1 Gene

Post-translational modifications for ZFC3H1 Gene

  • Ubiquitination at Lys880
  • Modification sites at PhosphoSitePlus

Other Protein References for ZFC3H1 Gene

No data available for DME Specific Peptides for ZFC3H1 Gene

Domains & Families for ZFC3H1 Gene

Gene Families for ZFC3H1 Gene

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

Protein Domains for ZFC3H1 Gene

InterPro:
Blocks:
  • RNA-processing protein, HAT helix
ProtoNet:

Suggested Antigen Peptide Sequences for ZFC3H1 Gene

GenScript: Design optimal peptide antigens:
  • Proline/serine-rich coiled-coil protein 2 (ZC3H1_HUMAN)
genes like me logo Genes that share domains with ZFC3H1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ZFC3H1 Gene

Function for ZFC3H1 Gene

Molecular function for ZFC3H1 Gene

UniProtKB/Swiss-Prot Function:
Subunit of the trimeric poly(A) tail exosome targeting (PAXT) complex, a complex that directs a subset of long and polyadenylated poly(A) RNAs for exosomal degradation. The RNA exosome is fundamental for the degradation of RNA in eukaryotic nuclei. Substrate targeting is facilitated by its cofactor MTREX, which links to RNA-binding protein adapters.

Phenotypes From GWAS Catalog for ZFC3H1 Gene

Gene Ontology (GO) - Molecular Function for ZFC3H1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0005515 protein binding IPI 20195357
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZFC3H1: view
genes like me logo Genes that share phenotypes with ZFC3H1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZFC3H1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ZFC3H1 Gene

Localization for ZFC3H1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZFC3H1 Gene

Nucleus. Note=Excluded from the nucleolus. {ECO:0000269 PubMed:27871484}.

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 ZFC3H1 gene
Compartment Confidence
nucleus 5
extracellular 4
cytoskeleton 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Intermediate filaments (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ZFC3H1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000178 exosome (RNase complex) IEA,IDA 27871484
GO:0005615 extracellular space HDA 22664934
GO:0005634 nucleus IEA,IDA 27871484
GO:0005730 NOT nucleolus IDA 27871484
genes like me logo Genes that share ontologies with ZFC3H1: view

Pathways & Interactions for ZFC3H1 Gene

PathCards logo

SuperPathways for ZFC3H1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ZFC3H1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006396 RNA processing IEA --
genes like me logo Genes that share ontologies with ZFC3H1: view

No data available for Pathways by source and SIGNOR curated interactions for ZFC3H1 Gene

Drugs & Compounds for ZFC3H1 Gene

No Compound Related Data Available

Transcripts for ZFC3H1 Gene

mRNA/cDNA for ZFC3H1 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
12 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 ZFC3H1

Alternative Splicing Database (ASD) splice patterns (SP) for ZFC3H1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17a · 17b · 17c ^
SP1: -
SP2: -
SP3:
SP4:
SP5: - - - -
SP6: - - -
SP7:
SP8:
SP9: - -
SP10:
SP11:
SP12:

ExUns: 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30a · 30b ^ 31a · 31b ^ 32 ^ 33a · 33b · 33c ^ 34a · 34b · 34c ^ 35a · 35b ^ 36 ^
SP1: - - - - -
SP2:
SP3:
SP4: - -
SP5:
SP6:
SP7: -
SP8:
SP9:
SP10:
SP11:
SP12:

ExUns: 37a · 37b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for ZFC3H1 Gene

GeneLoc Exon Structure for
ZFC3H1

Expression for ZFC3H1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZFC3H1 Gene

Protein differential expression in normal tissues from HIPED for ZFC3H1 Gene

This gene is overexpressed in Pancreatic juice (27.7) and Lung (19.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ZFC3H1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZFC3H1

SOURCE GeneReport for Unigene cluster for ZFC3H1 Gene:

Hs.527874

Evidence on tissue expression from TISSUES for ZFC3H1 Gene

  • Nervous system(4.4)
  • Blood(4.2)
  • Liver(4.2)
  • Pancreas(2.6)
genes like me logo Genes that share expression patterns with ZFC3H1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ZFC3H1 Gene

Orthologs for ZFC3H1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ZFC3H1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ZFC3H1 30 31
  • 99.77 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ZFC3H1 30 31
  • 93.65 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ZFC3H1 30 31
  • 93.04 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Zfc3h1 30
  • 88.97 (n)
Mouse
(Mus musculus)
Mammalia Zfc3h1 30 17 31
  • 88.78 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ZFC3H1 31
  • 83 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ZFC3H1 31
  • 79 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ZFC3H1 30 31
  • 74.8 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ZFC3H1 31
  • 69 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia zfc3h1 30
  • 64.83 (n)
Str.235 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.15668 30
Zebrafish
(Danio rerio)
Actinopterygii ZFC3H1 31
  • 28 (a)
OneToOne
Species where no ortholog for ZFC3H1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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 Vase (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)
  • Worm (Caenorhabditis elegans)

Evolution for ZFC3H1 Gene

ENSEMBL:
Gene Tree for ZFC3H1 (if available)
TreeFam:
Gene Tree for ZFC3H1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ZFC3H1: view image

Paralogs for ZFC3H1 Gene

No data available for Paralogs for ZFC3H1 Gene

Variants for ZFC3H1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZFC3H1 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
717303 Benign: not provided 71,634,147(-) A/C INTRON_VARIANT
726905 Benign: not provided 71,630,825(-) T/C SYNONYMOUS_VARIANT
730412 Benign: not provided 71,634,301(-) A/T SYNONYMOUS_VARIANT
748749 Likely Benign: not provided 71,632,937(-) T/A SYNONYMOUS_VARIANT
768568 Benign: not provided 71,615,271(-) T/C SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ZFC3H1 Gene

Structural Variations from Database of Genomic Variants (DGV) for ZFC3H1 Gene

Variant ID Type Subtype PubMed ID
nsv832451 CNV loss 17160897

Variation tolerance for ZFC3H1 Gene

Residual Variation Intolerance Score: 1.51% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.89; 59.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZFC3H1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZFC3H1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZFC3H1 Gene

Disorders for ZFC3H1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ZFC3H1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
juxtacortical chondroma
  • periosteal chondroma
chondroblastic osteosarcoma
  • chondrosarcomatous osteogenic sarcoma
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ZFC3H1

genes like me logo Genes that share disorders with ZFC3H1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ZFC3H1 Gene

Publications for ZFC3H1 Gene

  1. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9628581) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4
  2. Identification of a Nuclear Exosome Decay Pathway for Processed Transcripts. (PMID: 27871484) Meola N … Jensen TH (Molecular cell 2016) 3 4
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. PLEKHA4/kramer Attenuates Dishevelled Ubiquitination to Modulate Wnt and Planar Cell Polarity Signaling. (PMID: 31091453) Shami Shah A … Baskin JM (Cell reports 2019) 3
  5. USP7 Regulates Cytokinesis through FBXO38 and KIF20B. (PMID: 30804394) Georges A … Frappier L (Scientific reports 2019) 3

Products for ZFC3H1 Gene

Sources for ZFC3H1 Gene