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Aliases for JMJD1C Gene

Aliases for JMJD1C Gene

  • Jumonji Domain Containing 1C 2 3 5
  • Thyroid Receptor-Interacting Protein 8 3 4
  • Thyroid Hormone Receptor Interactor 8 2 3
  • TR-Interacting Protein 8 3 4
  • TRIP-8 3 4
  • TRIP8 3 4
  • Jumonji Domain-Containing Protein 1C 4
  • EC 1.14.11.- 4
  • EC 1.14.11 63
  • KIAA1380 4
  • JHDM2C 4

External Ids for JMJD1C Gene

Previous HGNC Symbols for JMJD1C Gene

  • TRIP8

Previous GeneCards Identifiers for JMJD1C Gene

  • GC10M064272
  • GC10M064597
  • GC10M064926
  • GC10M058918

Summaries for JMJD1C Gene

Entrez Gene Summary for JMJD1C Gene

  • The protein encoded by this gene interacts with thyroid hormone receptors and contains a jumonji domain. It is a candidate histone demethylase and is thought to be a coactivator for key transcription factors. It plays a role in the DNA-damage response pathway by demethylating the mediator of DNA damage checkpoint 1 (MDC1) protein, and is required for the survival of acute myeloid leukemia. Mutations in this gene are associated with Rett syndrome and intellectual disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

GeneCards Summary for JMJD1C Gene

JMJD1C (Jumonji Domain Containing 1C) is a Protein Coding gene. Diseases associated with JMJD1C include central nervous system germinoma and rett syndrome. Among its related pathways are Platelet activation, signaling and aggregation and Factors involved in megakaryocyte development and platelet production. GO annotations related to this gene include thyroid hormone receptor binding and dioxygenase activity. An important paralog of this gene is HR.

UniProtKB/Swiss-Prot for JMJD1C Gene

  • Probable histone demethylase that specifically demethylates Lys-9 of histone H3, thereby playing a central role in histone code. Demethylation of Lys residue generates formaldehyde and succinate. May be involved in hormone-dependent transcriptional activation, by participating in recruitment to androgen-receptor target genes (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for JMJD1C Gene

Genomics for JMJD1C Gene

Regulatory Elements for JMJD1C Gene

Promoters for JMJD1C Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around JMJD1C on UCSC Golden Path with GeneCards custom track

Genomic Location for JMJD1C Gene

Chromosome:
10
Start:
63,167,221 bp from pter
End:
63,521,850 bp from pter
Size:
354,630 bases
Orientation:
Minus strand

Genomic View for JMJD1C Gene

Genes around JMJD1C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
JMJD1C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for JMJD1C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for JMJD1C Gene

Proteins for JMJD1C Gene

  • Protein details for JMJD1C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15652-JHD2C_HUMAN
    Recommended name:
    Probable JmjC domain-containing histone demethylation protein 2C
    Protein Accession:
    Q15652
    Secondary Accessions:
    • A0T124
    • Q5SQZ8
    • Q5SQZ9
    • Q5SR00
    • Q7Z3E7
    • Q8N3U0
    • Q96KB9
    • Q9P2G7

    Protein attributes for JMJD1C Gene

    Size:
    2540 amino acids
    Molecular mass:
    284525 Da
    Cofactor:
    Name=Fe(2+); Xref=ChEBI:CHEBI:29033;
    Quaternary structure:
    • Interacts specifically with the ligand-binding domain of the thyroid receptor (TR). Requires the presence of thyroid hormone for its interaction.
    SequenceCaution:
    • Sequence=AAC41741.1; Type=Frameshift; Positions=2171; Evidence={ECO:0000305}; Sequence=CAD97921.1; Type=Frameshift; Positions=1697; Evidence={ECO:0000305}; Sequence=CAI10947.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for JMJD1C Gene

    Alternative splice isoforms for JMJD1C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for JMJD1C Gene

Proteomics data for JMJD1C Gene at MOPED

Selected DME Specific Peptides for JMJD1C Gene

Post-translational modifications for JMJD1C Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

Domains & Families for JMJD1C Gene

Protein Domains for JMJD1C Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q15652

UniProtKB/Swiss-Prot:

JHD2C_HUMAN :
  • Leu-Xaa-Xaa-Leu-Leu (LXXLL) motifs are known to mediate the association with nuclear receptors.
  • Belongs to the JHDM2 histone demethylase family.
Domain:
  • Leu-Xaa-Xaa-Leu-Leu (LXXLL) motifs are known to mediate the association with nuclear receptors.
  • Contains 1 JmjC domain.
Family:
  • Belongs to the JHDM2 histone demethylase family.
genes like me logo Genes that share domains with JMJD1C: view

No data available for Gene Families for JMJD1C Gene

Function for JMJD1C Gene

Molecular function for JMJD1C Gene

UniProtKB/Swiss-Prot Function:
Probable histone demethylase that specifically demethylates Lys-9 of histone H3, thereby playing a central role in histone code. Demethylation of Lys residue generates formaldehyde and succinate. May be involved in hormone-dependent transcriptional activation, by participating in recruitment to androgen-receptor target genes (By similarity).

Enzyme Numbers (IUBMB) for JMJD1C Gene

genes like me logo Genes that share phenotypes with JMJD1C: view

Animal Models for JMJD1C Gene

MGI Knock Outs for JMJD1C:

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for JMJD1C Gene

Localization for JMJD1C Gene

Subcellular locations from UniProtKB/Swiss-Prot for JMJD1C Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for JMJD1C Gene COMPARTMENTS Subcellular localization image for JMJD1C gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for JMJD1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with JMJD1C: view

Pathways & Interactions for JMJD1C Gene

genes like me logo Genes that share pathways with JMJD1C: view

Pathways by source for JMJD1C Gene

Gene Ontology (GO) - Biological Process for JMJD1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with JMJD1C: view

No data available for SIGNOR curated interactions for JMJD1C Gene

Drugs & Compounds for JMJD1C Gene

No Compound Related Data Available

Transcripts for JMJD1C Gene

Unigene Clusters for JMJD1C Gene

Jumonji domain containing 1C:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for JMJD1C Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
SP1:
SP2: - -
SP3:
SP4:
SP5: -
SP6: - -
SP7:
SP8:
SP9:

ExUns: 23a · 23b ^ 24a · 24b ^ 25a · 25b ^ 26a · 26b · 26c · 26d
SP1: - - - -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7: - -
SP8: -
SP9:

Relevant External Links for JMJD1C Gene

GeneLoc Exon Structure for
JMJD1C
ECgene alternative splicing isoforms for
JMJD1C

Expression for JMJD1C Gene

mRNA expression in normal human tissues for JMJD1C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for JMJD1C Gene

This gene is overexpressed in Plasma (56.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for JMJD1C Gene



SOURCE GeneReport for Unigene cluster for JMJD1C Gene Hs.413416

genes like me logo Genes that share expression patterns with JMJD1C: view

Protein tissue co-expression partners for JMJD1C Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for JMJD1C Gene

Orthologs for JMJD1C Gene

This gene was present in the common ancestor of animals.

Orthologs for JMJD1C Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia JMJD1C 35
  • 92.23 (n)
  • 92.14 (a)
JMJD1C 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia JMJD1C 35
  • 92.63 (n)
  • 92.28 (a)
JMJD1C 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Jmjd1c 35
  • 86.77 (n)
  • 86.65 (a)
Jmjd1c 16
Jmjd1c 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia JMJD1C 35
  • 99.84 (n)
  • 99.84 (a)
JMJD1C 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Jmjd1c 35
  • 84.56 (n)
  • 85.17 (a)
oppossum
(Monodelphis domestica)
Mammalia JMJD1C 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia JMJD1C 36
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves JMJD1C 35
  • 78.13 (n)
  • 78.86 (a)
JMJD1C 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia JMJD1C 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia jmjd1c 35
  • 68.08 (n)
  • 67.12 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.33045 35
zebrafish
(Danio rerio)
Actinopterygii jmjd1cb 35
  • 61.82 (n)
  • 61.98 (a)
JMJD1C 36
  • 37 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta JHDM2 36
  • 37 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7055 36
  • 36 (a)
OneToMany
Species with no ortholog for JMJD1C:
  • A. gosspyii yeast (Ashbya 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for JMJD1C Gene

ENSEMBL:
Gene Tree for JMJD1C (if available)
TreeFam:
Gene Tree for JMJD1C (if available)

Paralogs for JMJD1C Gene

Paralogs for JMJD1C Gene

(3) SIMAP similar genes for JMJD1C Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with JMJD1C: view

Variants for JMJD1C Gene

Sequence variations from dbSNP and Humsavar for JMJD1C Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs34798625 - 63,215,561(+) AACAG(C/T)GTTGA nc-transcript-variant, reference, synonymous-codon, missense, utr-variant-5-prime
rs35380596 - 63,214,985(+) TTCTG(G/T)TCTGA nc-transcript-variant, reference, missense
rs10761725 - 63,214,777(+) TGACG(A/T)ATGAA nc-transcript-variant, reference, missense
rs9703886 - 63,207,492(+) GGTAT(A/T)ACACA nc-transcript-variant, reference, missense
rs34491125 - 63,177,741(+) ATCTT(C/G)TCAAC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for JMJD1C Gene

Variant ID Type Subtype PubMed ID
esv2677353 CNV Deletion 23128226
nsv510223 CNV Loss 20534489
esv2658212 CNV Deletion 23128226
nsv831892 CNV Gain+Loss 17160897
esv2660838 CNV Deletion 23128226
esv2665134 CNV Deletion 23128226

Variation tolerance for JMJD1C Gene

Residual Variation Intolerance Score: 1.92% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.17; 96.96% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for JMJD1C Gene

HapMap Linkage Disequilibrium report
JMJD1C
Human Gene Mutation Database (HGMD)
JMJD1C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for JMJD1C Gene

Disorders for JMJD1C Gene

MalaCards: The human disease database

(3) MalaCards diseases for JMJD1C Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
central nervous system germinoma
  • intracranial germinoma
rett syndrome
  • rett syndrome, preserved speech variant
persistent hyperplastic primary vitreous
  • phpv
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for JMJD1C

Genetic Association Database (GAD)
JMJD1C
Human Genome Epidemiology (HuGE) Navigator
JMJD1C
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
JMJD1C
genes like me logo Genes that share disorders with JMJD1C: view

No data available for UniProtKB/Swiss-Prot and Genatlas for JMJD1C Gene

Publications for JMJD1C Gene

  1. Two classes of proteins dependent on either the presence or absence of thyroid hormone for interaction with the thyroid hormone receptor. (PMID: 7776974) Lee J.W. … Moore D.D. (Mol. Endocrinol. 1995) 2 3 4 67
  2. Comparative integromics on JMJD1C gene encoding histone demethylase: conserved POU5F1 binding site elucidating mechanism of JMJD1C expression in undifferentiated ES cells and diffuse-type gastric cancer. (PMID: 17549425) Katoh M. … Katoh M. (Int. J. Oncol. 2007) 3 23
  3. Identification and characterization of TRIP8 gene in silico. (PMID: 14533015) Katoh M. … Katoh M. (Int. J. Mol. Med. 2003) 3 23
  4. Platelet count mediates the contribution of a genetic variant in LRRC16A to ARDS risk. (PMID: 25254322) Wei Y. … Christiani D.C. (Chest 2015) 3
  5. A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. (PMID: 24026423) Shameer K. … Kullo I.J. (Hum. Genet. 2014) 3

Products for JMJD1C Gene

Sources for JMJD1C Gene

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