JMJD1C - jumonji domain containing 1C Gene

Homo sapiens

Also known as KDM3C; TRIP8; TRIP-8

Gene ID: 221037 | Gene type: protein coding

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

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

Recombinant JMJD1C Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71548	JMJD1C Protein, Human (His-SUMO-Myc)	Q15652 (2274M-2498R)	≥95%

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

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-162275	JMJD1C-IN-1		/	Unkown
HY-RS07037	JMJD1C Human Pre-designed siRNA Set A		/	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

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