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JMJD1C - jumonji domain containing 1C Gene

Also Known as KDM3C; TRIP8; TRIP-8

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 221037

About JMJD1C

Cytogenetic location: 10q21.3 Genomic coordinates (GRCh38): 10:63,167,225-63,521,890 (from NCBI)

This gene has 11 transcripts (splice variants), 207 orthologues, 3 paralogues and is associated with 2 phenotypes. Ubiquitous expression in bone marrow (RPKM 14.8), gall bladder (RPKM 12.0) and 25 other tissues.

Summary

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]

JMJD1C Products (7)

mRNA	Protein	Name
NM_001282948.2	NP_001269877.1	probable JmjC domain-containing histone demethylation protein 2C isoform c
NM_001318153.2	NP_001305082.1	probable JmjC domain-containing histone demethylation protein 2C isoform d
NM_001318154.2	NP_001305083.1	probable JmjC domain-containing histone demethylation protein 2C isoform c
NM_001322252.2	NP_001309181.1	probable JmjC domain-containing histone demethylation protein 2C isoform e
NM_001322254.2	NP_001309183.1	probable JmjC domain-containing histone demethylation protein 2C isoform f
NM_001322258.2	NP_001309187.1	probable JmjC domain-containing histone demethylation protein 2C isoform f
NM_032776.3	NP_116165.1	probable JmjC domain-containing histone demethylation protein 2C isoform a

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Referencias	Source
enables protein binding	IPI IPI: Inferred from physical interaction	17353003	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

JMJD1C Protein Structure

JmjC

0
400
800
1200
1600
2000
2400
2540 a.a.

Protein Preferred Names	Protein Names
probable JmjC domain-containing histone demethylation protein 2C	TR-interacting protein 8

JMJD1C Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Referencias
Intra	JMJD1C	Q15652	AR	Homo sapiens	P10275	Pull Down	17353003
Intra	JMJD1C	Q15652	AR	Homo sapiens	P10275	Y2H	17353003

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant JMJD1C Proteins

Referencia número	Nombre del producto	Accession	Pureza
HY-P71548	JMJD1C Protein, Human (His-SUMO-Myc)	Q15652-1 (M2274-R2498)	≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Central Nervous System Germinoma	Germinoma Of The Central Nervous System Intracranial Germinoma Germinoma Of Cns
Chromosome 22q11.2 Deletion Syndrome, Distal	22q11.2 Deletion Syndrome Autosomal Dominant Opitz G/Bbb Syndrome Catch22 Cayler Cardiofacial Syndrome Conotruncal Anomaly Face Syndrome Digeorge Syndrome Sedlackova Syndrome Shprintzen Syndrome Velocardiofacial Syndrome 22q11.2 Distal Deletion Syndrome Distal 22q11.2 Microdeletion Syndrome 22q11.2ds Vcfs Velo-Cardio-Facial Syndrome Distal Chromosome 22q11.2 Deletion Syndrome Chromosome 22q11.2 Deletion Syndrome Distal Chromosome 22q11.2 Deletion Syndrome Deletion 22q11.2 Syndrome 22q11ds Catch 22 Digeorge Sequence Microdeletion 22q11.2 Monosomy 22q11 Takao Syndrome Distal Del(22)(Q11.2) Distal Monosomy 22q11.2 Catch 22 Syndrome Chromosome Deletion Syndrome 22q11.2, Distal
Rett Syndrome	Atypical Rett Syndrome RTT Rett Disorder Rts Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use Rett Syndrome, Preserved Speech Variant Rett Syndrome, Atypical Rett'S Disorder Rett Syndrome Variant Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome Cerebroatrophic Hyperammonemia Rett Like Syndrome Rett'S Syndrome Atypical Rtt Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Rett Syndrome Preserved Speech Variant Rett Syndrome Zappella Variant Rett Syndrome, Zappella Variant
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-162275	JMJD1C-IN-1		99.96%	Unkown
HY-RS16249	Jmjd1c Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS07037	JMJD1C Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24674	Jmjd1c Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	JMJD1C	VGNC	VGNC:42187
Mus musculus	JMJD1C	MGD	MGI:1918614
Macaca mulatta	JMJD1C	VGNC	VGNC:73819
Bos taurus	JMJD1C	VGNC	VGNC:30376
Rattus norvegicus	JMJD1C	RGD	RGD:708458
Others	JMJD1C	NCBI