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 myelo... See more...

Aliases for JMJD1C Gene

Aliases for JMJD1C Gene

  • Jumonji Domain Containing 1C 2 3 5
  • Probable JmjC Domain-Containing Histone Demethylation Protein 2C 3 4
  • 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 52
  • KIAA1380 4
  • JHDM2C 4
  • KDM3C 3

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 Digeorge Syndrome. Among its related pathways are Pathways Affected in Adenoid Cystic Carcinoma and Factors involved in megakaryocyte development and platelet production. Gene Ontology (GO) annotations related to this gene include thyroid hormone receptor binding and dioxygenase activity. An important paralog of this gene is KDM3B.

UniProtKB/Swiss-Prot Summary 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).

Additional gene information for JMJD1C Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for JMJD1C Gene

Genomics for JMJD1C Gene

GeneHancer (GH) Regulatory Elements for JMJD1C Gene

Promoters and enhancers for JMJD1C 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
GH10J063260 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 514.7 +256.1 256086 11.1 ZBTB40 ZNF217 EP300 CTCF ZSCAN5C SIN3A TCF12 POLR2G NCOR1 GTF2E2 JMJD1C DBF4P1 JMJD1C-AS1 NRBF2 MRPL35P2 lnc-EGR2-6 piR-52079-028
GH10J063519 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 503.2 0.0 -36 5.2 EP300 ZBTB40 SIN3A TCF12 NRF1 POLR2G USF1 PHF8 ZFX ZNF639 REEP3 JMJD1C NONHSAG006016.2 JMJD1C-AS1 NRBF2 L13714-042
GH10J063463 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 15.9 +56.3 56282 3.9 EP300 HNRNPK ZSCAN5C SIN3A NRF1 POLR2G PHF8 ZFX ZNF10 ZBTB5 REEP3 JMJD1C-AS1 DBF4P1 JMJD1C NRBF2 MRPL35P2 ENSG00000224412
GH10J063132 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 15.7 +387.5 387549 4.2 FOXK2 HNRNPK ZBTB40 ZNF217 EP300 CTCF SIN3A NRF1 TCF12 USF1 NRBF2 lnc-ADO-2 JMJD1C MRPL35P2
GH10J062802 Promoter/Enhancer 1.9 Ensembl ENCODE CraniofacialAtlas dbSUPER 15.7 +715.9 715896 6.1 EP300 ZBTB40 ZNF217 SIN3A NRF1 TCF12 MYC POLR2G USF1 PHF8 ADO ENSG00000238280 JMJD1C ZNF365 lnc-ADO-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around JMJD1C on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for JMJD1C

Top Transcription factor binding sites by QIAGEN in the JMJD1C gene promoter:
  • CREB
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Egr-3
  • Hlf
  • Nkx2-5

Genomic Locations for JMJD1C Gene

Genomic Locations for JMJD1C Gene
chr10:63,167,221-63,521,850
(GRCh38/hg38)
Size:
354,630 bases
Orientation:
Minus strand
chr10:64,926,981-65,225,722
(GRCh37/hg19)
Size:
298,742 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.
    Miscellaneous:
    • [Isoform 3]: May function as a tumor suppressor, reduced expression in breast cancer tumors.
    SequenceCaution:
    • Sequence=AAC41741.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=CAD97921.1; Type=Frameshift; 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

Selected DME Specific Peptides for JMJD1C Gene

Q15652:
  • GVREMCD
  • SPVFCRF
  • KCRECRL
  • VLKLKDWP
  • ECWKQGQP
  • EDFVSPEH

Post-translational modifications for JMJD1C Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for JMJD1C Gene

Gene Families for JMJD1C Gene

Protein Domains for JMJD1C Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for JMJD1C Gene

GenScript: Design optimal peptide antigens:
  • JMJD1C protein (A0PJE4_HUMAN)
  • Jumonji domain containing 1C (A6PW35_HUMAN)
  • Jumonji domain containing 1C (A6PW37_HUMAN)
  • JMJD1C protein (B7ZLC8_HUMAN)
  • Thyroid receptor-interacting protein 8 (JHD2C_HUMAN)

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.
Family:
  • Belongs to the JHDM2 histone demethylase family.
genes like me logo Genes that share domains with JMJD1C: view

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

Phenotypes From GWAS Catalog for JMJD1C Gene

Gene Ontology (GO) - Molecular Function for JMJD1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IBA 21873635
GO:0005515 protein binding IPI 17353003
GO:0016491 oxidoreductase activity IEA --
GO:0031490 chromatin DNA binding IBA 21873635
GO:0032454 histone demethylase activity (H3-K9 specific) TAS --
genes like me logo Genes that share ontologies with JMJD1C: view
genes like me logo Genes that share phenotypes with JMJD1C: view

Human Phenotype Ontology for JMJD1C Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for JMJD1C Gene

MGI Knock Outs for JMJD1C:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for JMJD1C

No data available for 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
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 JMJD1C gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for JMJD1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IBA 21873635
GO:0005634 nucleus IBA 21873635
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

1 KEGG pathway for JMJD1C Gene

Gene Ontology (GO) - Biological Process for JMJD1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization IEA --
GO:0006355 regulation of transcription, DNA-templated TAS 7776974
GO:0007596 blood coagulation TAS --
GO:0033169 histone H3-K9 demethylation IBA 21873635
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

mRNA/cDNA for JMJD1C Gene

8 REFSEQ mRNAs :
25 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 JMJD1C

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

Expression for JMJD1C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for JMJD1C Gene



Protein tissue co-expression partners for JMJD1C Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for JMJD1C

SOURCE GeneReport for Unigene cluster for JMJD1C Gene:

Hs.413416

Evidence on tissue expression from TISSUES for JMJD1C Gene

  • Nervous system(4.8)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with JMJD1C: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia JMJD1C 31 30
  • 99.84 (n)
OneToOne
dog
(Canis familiaris)
Mammalia JMJD1C 31 30
  • 92.63 (n)
OneToOne
cow
(Bos Taurus)
Mammalia JMJD1C 31 30
  • 92.23 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Jmjd1c 17 31 30
  • 86.77 (n)
rat
(Rattus norvegicus)
Mammalia Jmjd1c 30
  • 84.56 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia JMJD1C 31
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia JMJD1C 31
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves JMJD1C 31 30
  • 78.13 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia JMJD1C 31
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia jmjd1c 30
  • 68.08 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.33045 30
zebrafish
(Danio rerio)
Actinopterygii jmjd1cb 30
  • 61.82 (n)
JMJD1C 31
  • 37 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta JHDM2 31
  • 37 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7055 31
  • 36 (a)
OneToMany
Species where no ortholog for JMJD1C was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for JMJD1C: view image

Paralogs for JMJD1C Gene

Paralogs for JMJD1C Gene

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

  • JHD2C_HUMAN
  • A0PJE4_HUMAN
  • B7ZLC8_HUMAN
  • H7BXU7_HUMAN
genes like me logo Genes that share paralogs with JMJD1C: view

Variants for JMJD1C Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for JMJD1C Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
639129 Uncertain Significance: Early myoclonic encephalopathy 63,209,085(-) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
639178 Uncertain Significance: Early myoclonic encephalopathy 63,208,074(-) T/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
640097 Uncertain Significance: Early myoclonic encephalopathy 63,208,139(-) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
640690 Uncertain Significance: Early myoclonic encephalopathy 63,217,325(-) T/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT
640719 Uncertain Significance: Early myoclonic encephalopathy 63,176,324(-) A/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for JMJD1C Gene

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

Variant ID Type Subtype PubMed ID
esv2658212 CNV deletion 23128226
esv2660838 CNV deletion 23128226
esv2665134 CNV deletion 23128226
esv2677353 CNV deletion 23128226
esv3578943 CNV loss 25503493
esv3623504 CNV loss 21293372
esv3623505 CNV loss 21293372
esv3623506 CNV loss 21293372
esv3623507 CNV loss 21293372
esv3623508 CNV loss 21293372
nsv1127115 CNV deletion 24896259
nsv510223 OTHER sequence alteration 20534489
nsv831892 CNV gain+loss 17160897
nsv948034 CNV duplication 23825009
nsv950968 CNV duplication 24416366
nsv950969 CNV duplication 24416366

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)

Additional Variant Information for JMJD1C Gene

Human Gene Mutation Database (HGMD)
JMJD1C
SNPedia medical, phenotypic, and genealogical associations of SNPs for
JMJD1C

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

Disorders for JMJD1C Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
central nervous system germinoma
  • intracranial germinoma
digeorge syndrome
  • cayler cardiofacial syndrome
rett syndrome
  • rtt
early myoclonic encephalopathy
  • epileptic seizures - myoclonic
autosomal dominant non-syndromic intellectual disability 2
  • mrd2
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for JMJD1C

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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. Identification and characterization of TRIP8 gene in silico. (PMID: 14533015) Katoh M … Katoh M (International journal of molecular medicine 2003) 3 4 23 54
  2. Two classes of proteins dependent on either the presence or absence of thyroid hormone for interaction with the thyroid hormone receptor. (PMID: 7776974) Lee JW … Moore DD (Molecular endocrinology (Baltimore, Md.) 1995) 2 3 4 54
  3. Critical role of Jumonji domain of JMJD1C in MLL-rearranged leukemia. (PMID: 31076406) Izaguirre-Carbonell J … Zhu N (Blood advances 2019) 2 3 54
  4. JMJD1C demethylates MDC1 to regulate the RNF8 and BRCA1-mediated chromatin response to DNA breaks. (PMID: 24240613) Watanabe S … Bartek J (Nature structural & molecular biology 2013) 2 3 54
  5. A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans. (PMID: 22423221) Qayyum R … Reiner AP (PLoS genetics 2012) 3 41 54

Products for JMJD1C Gene

Sources for JMJD1C Gene