2. Gene
  3. JMJD1C - jumonji domain containing 1C Gene

JMJD1C - jumonji domain containing 1C Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference 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

JmjC: JmjC domain, hydroxylase (2382 - 2481)

  • 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) Q15652-1 (M2274-R2498) ≥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 (3)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-162275 JMJD1C-IN-1 99.99% Unkown
HY-RS16249 Jmjd1c Mouse Pre-designed siRNA Set A Pre-designed Sets / Unkown
HY-RS07037 JMJD1C Human Pre-designed siRNA Set A Pre-designed Sets / 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