Human Gene KDM5C (ENST00000375401.8_12) from GENCODE V47lift37
  Description: lysine demethylase 5C, transcript variant 1 (from RefSeq NM_004187.5)
Gencode Transcript: ENST00000375401.8_12
Gencode Gene: ENSG00000126012.14_16
Transcript (Including UTRs)
   Position: hg19 chrX:53,221,340-53,254,389 Size: 33,050 Total Exon Count: 26 Strand: -
Coding Region
   Position: hg19 chrX:53,222,149-53,254,071 Size: 31,923 Coding Exon Count: 26 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:53,221,340-53,254,389)mRNA (may differ from genome)Protein (1560 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: KDM5C_HUMAN
DESCRIPTION: RecName: Full=Lysine-specific demethylase 5C; EC=1.14.11.-; AltName: Full=Histone demethylase JARID1C; AltName: Full=Jumonji/ARID domain-containing protein 1C; AltName: Full=Protein SmcX; AltName: Full=Protein Xe169;
FUNCTION: Histone demethylase that specifically demethylates 'Lys- 4' of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 'Lys-9', H3 'Lys-27', H3 'Lys-36', H3 'Lys-79' or H4 'Lys-20'. Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-4'. Participates in transcriptional repression of neuronal genes by recruiting histone deacetylases and REST at neuron-restrictive silencer elements.
COFACTOR: Alpha-ketoglutarate.
COFACTOR: Binds 1 Fe(2+) ion per subunit.
SUBUNIT: Part of two distinct complexes, one containing E2F6, and the other containing REST.
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: Expressed in all tissues examined. Highest levels found in brain and skeletal muscle.
DOMAIN: The first PHD-type zinc finger domain recognizes and binds H3-K9Me3.
DOMAIN: Both the JmjC domain and the JmjN domain are required for enzymatic activity.
DISEASE: Defects in KDM5C are the cause of mental retardation syndromic X-linked JARID1C-related (MRXSJ) [MIM:300534]. MRXSJ is characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. MRXSJ patients manifest mental retardation associated with variable features such as slowly progressive spastic paraplegia, seizures, facial dysmorphism.
MISCELLANEOUS: Escapes X-inactivation.
SIMILARITY: Belongs to the JARID1 histone demethylase family.
SIMILARITY: Contains 1 ARID domain.
SIMILARITY: Contains 1 JmjC domain.
SIMILARITY: Contains 1 JmjN domain.
SIMILARITY: Contains 2 PHD-type zinc fingers.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/JARID1C";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: KDM5C
Diseases sorted by gene-association score: mental retardation, x-linked, syndromic, claes-jensen type* (1682), alacrima, achalasia, and mental retardation syndrome* (151), intellectual disability* (136), iqsec2 (12), mental retardation and microcephaly with pontine and cerebellar hypoplasia (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 28.66 RPKM in Ovary
Total median expression: 849.64 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -139.00318-0.437 Picture PostScript Text
3' UTR -267.30809-0.330 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001606 - ARID/BRIGHT_DNA-bd
IPR003347 - JmjC_dom
IPR013637 - Lys_sp_deMease_like_dom
IPR003349 - TF_JmjN
IPR019786 - Zinc_finger_PHD-type_CS
IPR004198 - Znf_C5HC2
IPR011011 - Znf_FYVE_PHD
IPR001965 - Znf_PHD
IPR019787 - Znf_PHD-finger
IPR013083 - Znf_RING/FYVE/PHD

Pfam Domains:
PF00628 - PHD-finger
PF01388 - ARID/BRIGHT DNA binding domain
PF02373 - JmjC domain, hydroxylase
PF02375 - jmjN domain
PF02928 - C5HC2 zinc finger
PF08429 - PLU-1-like protein

SCOP Domains:
46774 - ARID-like
51197 - Clavaminate synthase-like
52540 - P-loop containing nucleoside triphosphate hydrolases
57889 - Cysteine-rich domain
57903 - FYVE/PHD zinc finger

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2JRZ - NMR MuPIT


ModBase Predicted Comparative 3D Structure on P41229
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0003677 DNA binding
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0016491 oxidoreductase activity
GO:0032452 histone demethylase activity
GO:0032453 histone demethylase activity (H3-K4 specific)
GO:0046872 metal ion binding
GO:0051213 dioxygenase activity

Biological Process:
GO:0006325 chromatin organization
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0009636 response to toxic substance
GO:0034720 histone H3-K4 demethylation
GO:0045892 negative regulation of transcription, DNA-templated
GO:0048511 rhythmic process
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  EF613277 - Homo sapiens JARID1C protein (JARID1C) mRNA, complete cds, alternatively spliced.
LF211697 - JP 2014500723-A/19200: Polycomb-Associated Non-Coding RNAs.
BC047751 - Homo sapiens jumonji, AT rich interactive domain 1C, mRNA (cDNA clone IMAGE:5762871).
BC054499 - Homo sapiens jumonji, AT rich interactive domain 1C, mRNA (cDNA clone MGC:57577 IMAGE:5492114), complete cds.
L25270 - Human XE169 mRNA, complete cds.
JD136604 - Sequence 117628 from Patent EP1572962.
JD393680 - Sequence 374704 from Patent EP1572962.
JD391155 - Sequence 372179 from Patent EP1572962.
JD253702 - Sequence 234726 from Patent EP1572962.
JD416146 - Sequence 397170 from Patent EP1572962.
JD227055 - Sequence 208079 from Patent EP1572962.
JD393650 - Sequence 374674 from Patent EP1572962.
JD147819 - Sequence 128843 from Patent EP1572962.
JD201887 - Sequence 182911 from Patent EP1572962.
LF382779 - JP 2014500723-A/190282: Polycomb-Associated Non-Coding RNAs.
JD253628 - Sequence 234652 from Patent EP1572962.
JD521528 - Sequence 502552 from Patent EP1572962.
JD402544 - Sequence 383568 from Patent EP1572962.
JD521557 - Sequence 502581 from Patent EP1572962.
JD520980 - Sequence 502004 from Patent EP1572962.
JD525809 - Sequence 506833 from Patent EP1572962.
JD367099 - Sequence 348123 from Patent EP1572962.
JD381463 - Sequence 362487 from Patent EP1572962.
JD386635 - Sequence 367659 from Patent EP1572962.
JD101148 - Sequence 82172 from Patent EP1572962.
JD348405 - Sequence 329429 from Patent EP1572962.
JD415852 - Sequence 396876 from Patent EP1572962.
JD164739 - Sequence 145763 from Patent EP1572962.
JD150407 - Sequence 131431 from Patent EP1572962.
JD174296 - Sequence 155320 from Patent EP1572962.
JD037509 - Sequence 18533 from Patent EP1572962.
AK304732 - Homo sapiens cDNA FLJ55294 complete cds, highly similar to Jumonji/ARID domain-containing protein 1C.
JD466583 - Sequence 447607 from Patent EP1572962.
JD218527 - Sequence 199551 from Patent EP1572962.
JD491419 - Sequence 472443 from Patent EP1572962.
JD486837 - Sequence 467861 from Patent EP1572962.
JD456639 - Sequence 437663 from Patent EP1572962.
LF382777 - JP 2014500723-A/190280: Polycomb-Associated Non-Coding RNAs.
JD131326 - Sequence 112350 from Patent EP1572962.
JD391984 - Sequence 373008 from Patent EP1572962.
EU832126 - Synthetic construct Homo sapiens clone HAIB:100067155; DKFZo008D0425 jumonji, AT rich interactive domain 1C protein (JARID1C) gene, encodes complete protein.
EU832220 - Synthetic construct Homo sapiens clone HAIB:100067249; DKFZo004D0426 jumonji, AT rich interactive domain 1C protein (JARID1C) gene, encodes complete protein.
EU446742 - Synthetic construct Homo sapiens clone IMAGE:100070232; IMAGE:100011951; FLH258727.01L jumonji, AT rich interactive domain 1C (JARID1C) gene, encodes complete protein.
LF382774 - JP 2014500723-A/190277: Polycomb-Associated Non-Coding RNAs.
LF382773 - JP 2014500723-A/190276: Polycomb-Associated Non-Coding RNAs.
LF382771 - JP 2014500723-A/190274: Polycomb-Associated Non-Coding RNAs.
LF382769 - JP 2014500723-A/190272: Polycomb-Associated Non-Coding RNAs.
LF382766 - JP 2014500723-A/190269: Polycomb-Associated Non-Coding RNAs.
AK308077 - Homo sapiens cDNA, FLJ98025.
LF382761 - JP 2014500723-A/190264: Polycomb-Associated Non-Coding RNAs.
LF382753 - JP 2014500723-A/190256: Polycomb-Associated Non-Coding RNAs.
Z29650 - H.sapiens SMCX mRNA.
LF382750 - JP 2014500723-A/190253: Polycomb-Associated Non-Coding RNAs.
LF382749 - JP 2014500723-A/190252: Polycomb-Associated Non-Coding RNAs.
LF382748 - JP 2014500723-A/190251: Polycomb-Associated Non-Coding RNAs.
LF382746 - JP 2014500723-A/190249: Polycomb-Associated Non-Coding RNAs.
LF382745 - JP 2014500723-A/190248: Polycomb-Associated Non-Coding RNAs.
LF382743 - JP 2014500723-A/190246: Polycomb-Associated Non-Coding RNAs.
LF382741 - JP 2014500723-A/190244: Polycomb-Associated Non-Coding RNAs.
JD266752 - Sequence 247776 from Patent EP1572962.
LF382730 - JP 2014500723-A/190233: Polycomb-Associated Non-Coding RNAs.
JD492548 - Sequence 473572 from Patent EP1572962.
JD180479 - Sequence 161503 from Patent EP1572962.
LF382729 - JP 2014500723-A/190232: Polycomb-Associated Non-Coding RNAs.
JD481114 - Sequence 462138 from Patent EP1572962.
JD407320 - Sequence 388344 from Patent EP1572962.
MA618356 - JP 2018138019-A/190282: Polycomb-Associated Non-Coding RNAs.
MA618354 - JP 2018138019-A/190280: Polycomb-Associated Non-Coding RNAs.
MA618351 - JP 2018138019-A/190277: Polycomb-Associated Non-Coding RNAs.
MA618350 - JP 2018138019-A/190276: Polycomb-Associated Non-Coding RNAs.
MA618348 - JP 2018138019-A/190274: Polycomb-Associated Non-Coding RNAs.
MA618346 - JP 2018138019-A/190272: Polycomb-Associated Non-Coding RNAs.
MA618343 - JP 2018138019-A/190269: Polycomb-Associated Non-Coding RNAs.
MA618338 - JP 2018138019-A/190264: Polycomb-Associated Non-Coding RNAs.
MA618330 - JP 2018138019-A/190256: Polycomb-Associated Non-Coding RNAs.
MA618327 - JP 2018138019-A/190253: Polycomb-Associated Non-Coding RNAs.
MA618326 - JP 2018138019-A/190252: Polycomb-Associated Non-Coding RNAs.
MA618325 - JP 2018138019-A/190251: Polycomb-Associated Non-Coding RNAs.
MA618323 - JP 2018138019-A/190249: Polycomb-Associated Non-Coding RNAs.
MA618322 - JP 2018138019-A/190248: Polycomb-Associated Non-Coding RNAs.
MA618320 - JP 2018138019-A/190246: Polycomb-Associated Non-Coding RNAs.
MA618318 - JP 2018138019-A/190244: Polycomb-Associated Non-Coding RNAs.
MA618307 - JP 2018138019-A/190233: Polycomb-Associated Non-Coding RNAs.
MA618306 - JP 2018138019-A/190232: Polycomb-Associated Non-Coding RNAs.
MA447274 - JP 2018138019-A/19200: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P41229 (Reactome details) participates in the following event(s):

R-HSA-4754181 KDM5A-D demethylate Me2K5-histone H3
R-HSA-5661116 KDM5A-D demethylate Me3K5-histone H3
R-HSA-3214842 HDMs demethylate histones
R-HSA-3247509 Chromatin modifying enzymes
R-HSA-4839726 Chromatin organization

-  Other Names for This Gene
  Alternate Gene Symbols: B0QZ44, B4E3I2, DXS1272E, ENST00000375401.1, ENST00000375401.2, ENST00000375401.3, ENST00000375401.4, ENST00000375401.5, ENST00000375401.6, ENST00000375401.7, F5H3T1, JARID1C , KDM5C , KDM5C_HUMAN, NM_004187, P41229, Q5JUX3, Q5JUX4, Q5JUX5, Q7Z5S5, SMCX , uc318mfu.1, uc318mfu.2, XE169
UCSC ID: ENST00000375401.8_12
RefSeq Accession: NM_004187.5
Protein: P41229 (aka KDM5C_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.