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Aliases for CACTIN Gene

Aliases for CACTIN Gene

  • Cactin, Spliceosome C Complex Subunit 2 3 5
  • Functional Spliceosome-Associated Protein C 2 3
  • Renal Carcinoma Antigen NY-REN-24 3 4
  • NY REN 24 Antigen 2 3
  • C19orf29 3 4
  • Chromosome 19 Open Reading Frame 29 2
  • Cactin Homolog (Drosophila) 2
  • NY-REN-24 3
  • Cactin 3
  • FSAPc 3

External Ids for CACTIN Gene

Previous HGNC Symbols for CACTIN Gene

  • C19orf29

Summaries for CACTIN Gene

GeneCards Summary for CACTIN Gene

CACTIN (Cactin, Spliceosome C Complex Subunit) is a Protein Coding gene. Diseases associated with CACTIN include Renal Cell Carcinoma. GO annotations related to this gene include poly(A) RNA binding.

UniProtKB/Swiss-Prot for CACTIN Gene

  • Involved in the regulation of innate immune response. Acts as negative regulator of Toll-like receptor and interferon-regulatory factor (IRF) signaling pathways. Contributes to the regulation of transcriptional activation of NF-kappa-B target genes in response to endogenous proinflammatory stimuli. May play a role during early embryonic development. Probably involved in pre-mRNA splicing.

Gene Wiki entry for CACTIN Gene

Additional gene information for CACTIN Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CACTIN Gene

Genomics for CACTIN Gene

Regulatory Elements for CACTIN Gene

Enhancers for CACTIN 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
GH19H003605 1.3 ENCODE dbSUPER 116.6 +19.2 19212 4.6 HDGF PKNOX1 ARNT SIN3A YBX1 ZNF2 ZNF766 SP3 MCM5 ZNF662 CACTIN ZNF77 CACTIN-AS1 CCDC94 ENSG00000267030 ZNF555 ENSG00000267769 APBA3 GNA11 ZNF554
GH19H004574 2 FANTOM5 Ensembl ENCODE dbSUPER 57.2 -948.7 -948669 2.5 HDGF PKNOX1 ARNT ARID4B FEZF1 ZNF2 ZBTB7B ZNF143 ZNF548 FOS CACTIN CCDC94 CACTIN-AS1 APBA3 ENSG00000267030 TICAM1 ENSG00000269807 ENSG00000267769 DPP9-AS1 SH3GL1
GH19H003150 2 FANTOM5 Ensembl ENCODE dbSUPER 56.8 +473.4 473427 6 HDGF PKNOX1 FOXA2 ARNT YBX1 ZNF766 FOS DEK SP3 JUNB ZNF77 CACTIN GNA11 ZNF555 CACTIN-AS1 DOT1L SPPL2B SF3A2 AP3D1 GNA15
GH19H003981 1.2 ENCODE 75.5 -357.8 -357772 8.2 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D SSRP1 NR2C1 CACTIN ENSG00000267030 CCDC94 ENSG00000267769 CACTIN-AS1 ENSG00000267255 FZR1 HDGFL2 ENSG00000266959 LOC100287614
GH19H004246 1.2 ENCODE 73.5 -620.5 -620518 2.2 DMAP1 YY1 SLC30A9 ZNF143 SP3 MCM3 NFYC ZC3H11A MEF2D SSRP1 CACTIN CACTIN-AS1 CCDC94 ENSG00000267030 ENSG00000267769 HDGFL2 PIAS4 APBA3 DPP9-AS1 LOC100287614
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CACTIN on UCSC Golden Path with GeneCards custom track

Promoters for CACTIN Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000106086 115 1801 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

Genomic Locations for CACTIN Gene

Genomic Locations for CACTIN Gene
chr19:3,610,628-3,626,815
(GRCh38/hg38)
Size:
16,188 bases
Orientation:
Minus strand
chr19:3,610,626-3,626,813
(GRCh37/hg19)

Genomic View for CACTIN Gene

Genes around CACTIN on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for CACTIN Gene

Proteins for CACTIN Gene

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

    Protein Symbol:
    Q8WUQ7-CATIN_HUMAN
    Recommended name:
    Cactin
    Protein Accession:
    Q8WUQ7
    Secondary Accessions:
    • A6NNA9
    • A9UL12
    • O75229
    • Q7LE08
    • Q9BTA6
    • Q9Y5A4

    Protein attributes for CACTIN Gene

    Size:
    758 amino acids
    Molecular mass:
    88702 Da
    Quaternary structure:
    • Interacts (via N-terminal domain) with NFKBIL1; the interaction occurs in a proinflammatory-independent manner. Does not interact with RELA NF-kappa-B subunit. Identified in the spliceosome C complex.
    Miscellaneous:
    • Antigen recognized by autologous antibody in patients with renal-cell carcinoma.
    SequenceCaution:
    • Sequence=AAC24305.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAC32903.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAD42868.1; Type=Frameshift; Positions=711; Evidence={ECO:0000305}; Sequence=AAH04262.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=EAW69298.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for CACTIN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CACTIN Gene

Post-translational modifications for CACTIN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CACTIN Gene

Domains & Families for CACTIN Gene

Gene Families for CACTIN Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CACTIN Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CACTIN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8WUQ7

UniProtKB/Swiss-Prot:

CATIN_HUMAN :
  • Belongs to the CACTIN family.
Family:
  • Belongs to the CACTIN family.
genes like me logo Genes that share domains with CACTIN: view

Function for CACTIN Gene

Molecular function for CACTIN Gene

UniProtKB/Swiss-Prot Function:
Involved in the regulation of innate immune response. Acts as negative regulator of Toll-like receptor and interferon-regulatory factor (IRF) signaling pathways. Contributes to the regulation of transcriptional activation of NF-kappa-B target genes in response to endogenous proinflammatory stimuli. May play a role during early embryonic development. Probably involved in pre-mRNA splicing.

Phenotypes From GWAS Catalog for CACTIN Gene

Gene Ontology (GO) - Molecular Function for CACTIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22681889
GO:0005515 protein binding IPI 20829348
genes like me logo Genes that share ontologies with CACTIN: view
genes like me logo Genes that share phenotypes with CACTIN: view

Animal Model Products

miRNA for CACTIN Gene

miRTarBase miRNAs that target CACTIN

Clone Products

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

Localization for CACTIN Gene

Subcellular locations from UniProtKB/Swiss-Prot for CACTIN Gene

Nucleus. Note=Nuclear localization with a speckled expression pattern in some cells. Colocalizes with NFKBIL1 in the nucleus.

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 CACTIN gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (3)
  • Nucleoplasm (3)
  • Cytosol (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CACTIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 15302935
GO:0005654 nucleoplasm IDA --
GO:0005681 spliceosomal complex IEA --
GO:0005829 cytosol IDA --
GO:0016607 nuclear speck IDA --
genes like me logo Genes that share ontologies with CACTIN: view

Pathways & Interactions for CACTIN Gene

SuperPathways for CACTIN Gene

No Data Available

Gene Ontology (GO) - Biological Process for CACTIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome IC 11991638
GO:0001933 negative regulation of protein phosphorylation IMP 20829348
GO:0002376 immune system process IEA --
GO:0006397 mRNA processing IEA --
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with CACTIN: view

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

Drugs & Compounds for CACTIN Gene

No Compound Related Data Available

Transcripts for CACTIN Gene

mRNA/cDNA for CACTIN Gene

(4) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(10) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CACTIN Gene

Cactin, spliceosome C complex subunit:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for CACTIN Gene

GeneLoc Exon Structure for
CACTIN
ECgene alternative splicing isoforms for
CACTIN

Expression for CACTIN Gene

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

Protein differential expression in normal tissues from HIPED for CACTIN Gene

This gene is overexpressed in CD8 Tcells (18.2), Peripheral blood mononuclear cells (12.1), Testis (7.2), and NK cells (6.1).

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



Protein tissue co-expression partners for CACTIN Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CACTIN Gene:

CACTIN

SOURCE GeneReport for Unigene cluster for CACTIN Gene:

Hs.128425

Evidence on tissue expression from TISSUES for CACTIN Gene

  • Liver(4.1)
genes like me logo Genes that share expression patterns with CACTIN: view

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

Orthologs for CACTIN Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CACTIN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CACTIN 33 34
  • 98.8 (n)
dog
(Canis familiaris)
Mammalia CACTIN 33 34
  • 92.55 (n)
cow
(Bos Taurus)
Mammalia CACTIN 34
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cactin 33
  • 83.53 (n)
mouse
(Mus musculus)
Mammalia Cactin 33 16 34
  • 83.36 (n)
oppossum
(Monodelphis domestica)
Mammalia CACTIN 34
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CACTIN 34
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves CACTIN 33 34
  • 85.71 (n)
lizard
(Anolis carolinensis)
Reptilia CACTIN 34
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cactin 33
  • 71.66 (n)
zebrafish
(Danio rerio)
Actinopterygii cactin 33 34
  • 76.69 (n)
fruit fly
(Drosophila melanogaster)
Insecta cactin 33 34
  • 63.91 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006542 33
  • 62.7 (n)
worm
(Caenorhabditis elegans)
Secernentea cacn-1 33 34
  • 50.5 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G03910 33
  • 51.37 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6596 34
  • 54 (a)
OneToOne
Species where no ortholog for CACTIN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CACTIN Gene

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

Paralogs for CACTIN Gene

No data available for Paralogs for CACTIN Gene

Variants for CACTIN Gene

Sequence variations from dbSNP and Humsavar for CACTIN Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1000027897 -- 3,628,437(+) CGCTG(G/T)CTTTG upstream-variant-2KB
rs1000055477 -- 3,614,690(+) CTCCC(-/CTCCT)CTTCC intron-variant
rs1000090360 -- 3,619,065(+) CATCG(A/G)GTGGG intron-variant
rs1000119889 -- 3,618,891(+) CCCGA(C/G)GCCTC reference, synonymous-codon
rs1000177861 -- 3,621,456(+) GAGGG(A/G)GTTCC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv470114 CNV loss 18288195
nsv833713 CNV loss 17160897
nsv953948 CNV deletion 24416366

Variation tolerance for CACTIN Gene

Residual Variation Intolerance Score: 8.17% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.68; 78.50% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CACTIN Gene

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

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

Disorders for CACTIN Gene

MalaCards: The human disease database

(1) MalaCards diseases for CACTIN Gene - From: GeneCards

Disorder Aliases PubMed IDs
renal cell carcinoma
  • renal cell carcinoma, clear cell, somatic
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CACTIN

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

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

Publications for CACTIN Gene

  1. Cactin targets the MHC class III protein IkappaB-like (IkappaBL) and inhibits NF-kappaB and interferon-regulatory factor signaling pathways. (PMID: 20829348) Atzei P … Moynagh PN (The Journal of biological chemistry 2010) 2 3 4 60
  2. Evolution and comparative genomics of subcellular specializations: EST sequencing of Torpedo electric organ. (PMID: 21429463) Nazarian J … Hoffman EP (Marine genomics 2011) 2 3 60
  3. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J … Lucas SM (Nature 2004) 3 4 60
  4. 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
  5. Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis. (PMID: 11991638) Jurica MS … Moore MJ (RNA (New York, N.Y.) 2002) 3 4 60

Products for CACTIN Gene

Sources for CACTIN Gene

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