KDM5C Gene
protein-coding GIFtS: 51
GC0XM053237
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lysine (K)-specific demethylase 5C (Previous names: Jumonji, AT rich interactive domain 1C (RBP2-like), Smcy homolog, X-linked (mouse), jumonji, AT rich interactive domain 1C ) Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database (Previous symbols: SMCX, JARID1C)
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Aliases & Descriptions for KDM5C
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
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| Aliases |
|---|
| DXS1272E 1, 2, 3 | | EC 1.14.11.- 3 | | JARID1C 2, 3 | | MRXJ 2 | | MRXSJ 2 | | OTTHUMP00000023342 2 | | SMCX 2, 3 | | XE169 1, 2, 3 |
| | | Descriptions |
|---|
| Histone demethylase JARID1C 3 | | JmjC domain-containing protein SMCX 2 | | Jumonji, AT rich interactive domain 1C (RBP2-like) 1, 2 | | Jumonji/ARID domain-containing protein 1C 2, 3 | | Protein SmcX 3 | | Protein Xe169 3 | | Smcx homolog, X chromosome 2 | | Smcy homolog, X-linked 2 | | Smcy homolog, X-linked (mouse) 1 | | jumonji, AT rich interactive domain 1C 1, 2 | | lysine (K)-specific demethylase 5C 2 | | lysine-specific demethylase 5C 1 | | selected cDNA on X 2 |
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| | Search outside databases for aliases for KDM5C gene |
Summaries for KDM5C(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for KDM5C: This gene is a member of the SMCY homolog family and encodes a protein with one ARID domain, one JmjC domain, one JmjN domain and two PHD-type zinc fingers. The DNA-binding motifs suggest this protein is involved in the regulation of transcription and chromatin remodeling. Mutations in this gene have been associated with X-linked mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq] UniProtKB/Swiss-Prot: KDM5C_HUMAN, P41229Function: 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 elementsGene Wiki entry for KDM5C (JARID1C) |
Genomic Location for KDM5C
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: Xp11.22-p11.21 Ensembl cytogenetic band: Xp11.22 HGNC cytogenetic band: Xp11.22-p11.21KDM5C Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome X GeneLoc Exon Structure GeneLoc location for GC0XM053237:
(about GC identifiers)
Start:
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53,237,378 bp from pter |
End:
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53,271,329 bp from pter |
Size:
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33,952 bases |
Orientation:
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minus strand |
RefSeq DNA sequence:- NC_000023.9 NT_011630.14
| Proteins for KDM5C
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: KDM5C_HUMAN, P41229 (See
protein sequence)Recommended Name: Lysine-specific demethylase 5C Size: 1560 amino acids; 175720 Da
Cofactor: Alpha-ketoglutarate
Cofactor: Fe(2+)
Subunit: Part of two distinct complexes, one containing E2F6, and the other containing REST
Subcellular location: Nucleus
Miscellaneous: Escapes X-inactivation
PDB structures from and Proteopedia :2JRZ (3D)
 
Secondary accessions: Q5JUX3 Q5JUX4 Q5JUX5 Q7Z5S5Alternative splicing: 3 isoforms: P41229-1 P41229-2 P41229-3 Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins (2 alternative transcripts):
NP_001140174.1 NP_004178.2
ENSEMBL proteins: ENSP00000364532 ENSP00000364528 ENSP00000385394 ENSP00000344004 ENSP00000364550
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
3 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for KDM5C: Assays for KDM5C: | Protein
Domains/ Families for KDM5C(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry P41229
ProtoNet protein and cluster: P41229 5/6 Blocks protein families (see all 6
): IPB001606 ARID (AT-rich interaction domain) protein IPB001965 Zn-finger-like IPB003347 Transcription factor jumonji IPB003349 Transcription factor jumonji IPB004198 Zn-finger
UniProtKB/Swiss-Prot: KDM5C_HUMAN, P41229Domain: The first PHD-type zinc finger domain recognizes and binds H3-K9Me3Domain: Both the JmjC domain and the JmjN domain are required for enzymatic activitySimilarity: Belongs to the JARID1 histone demethylase familySimilarity: Contains 1 ARID domainSimilarity: Contains 1 JmjC domainSimilarity: Contains 1 JmjN domainSimilarity: Contains 2 PHD-type zinc fingers | Gene Function for KDM5C
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_004187
Applied Biosystems Silencer® siRNAs for KDM5C
Sigma-Aldrich siRNA and siRNA Panels for KDM5C  Sigma-Aldrich shRNA for KDM5C  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_004187                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_004187                                  untagged cDNA clones in CMV expression vector (see all 2): NM_004187 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_004187
UniProtKB/Swiss-Prot: KDM5C_HUMAN, P41229Function: 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 elementsEnzyme Number (IUBMB): EC 1.14.11.- 5/8 Gene Ontology (GO) molecular function terms (links to tree view) (see all 8
): About this table | Pathways & Interactions for KDM5C
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
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5/19 Interacting proteins for KDM5C (P412291 ENSP000003645503) via UniProtKB, MINT, and/or STRING (see all 19
)About this table
5 Gene Ontology (GO) biological process terms (links to tree view): About this table
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Drugs & Compounds for KDM5C(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
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Browse Tocris compounds for KDM5C
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Transcripts for KDM5C(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_004187
Sigma-Aldrich siRNA and siRNA Panels for KDM5C  Sigma-Aldrich shRNA for KDM5C  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_004187 REFSEQ mRNAs for KDM5C gene (2 alternative transcripts): NM_001146702.1 NM_004187.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_004187               OriGene GFP tagged cDNA clone in CMV expression vector: NM_004187                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_004187                                  untagged cDNA clones in CMV expression vector (see all 2): NM_004187  Additional cDNA sequence: AF069136.1 AK304732.1 AK308077.1 AY927525.1 AY927613.1 AY927614.1 BC054499.2 CR602759.1 EF613277.1 L25270.1 Z29650.1 15 DOTS entries: DT.314594 DT.100817390 DT.92428580 DT.95195172 DT.86857392 DT.95249943 DT.100817379 DT.121298854 DT.100817387 DT.100817394 DT.100840162 DT.121298874 DT.87012280 DT.100817385 DT.100830833 24/327 AceView cDNA sequences (see all 327
):AL556381 BM783479 AA485054 BU633909 BM783422 CR605926 AA485380 BF095232 BU153721 BM987215 BQ218951 AI017396 AW576154 BM678964 BM977359 BM970490 T29064 AA807623 CB243084 AL698849 BM015635 BF058094 AA348318 BG684126 Unigene Cluster for KDM5C: Lysine (K)-specific demethylase 5C Hs.631768 [show with all ESTs]Unigene Representative Sequence: NM_004187
GeneLoc Exon Structure
5/12 Alternative Splicing Database (ASD) splice patterns (SP) for KDM5C (see all 12
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| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | |
| SP1: | |   | |   | |   | |   | - |   | - |   | - |   | - |   | |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | - |   | - |   | - |   | - |   | |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | - |   | |   | |   | - |   | |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
| ExUns: | 16a | · | 16b | ^ | 17 | ^ | 18a | · | 18b | ^ | 19a | · | 19b | ^ | 20a | · | 20b | ^ | 21 | ^ | 22a | · | 22b | ^ | 23a | · | 23b | ^ | 24 | ^ | 25a | · | 25b | · | 25c | ^ | 26a | · | 26b | ^ | 27 | ^ | 28 | |
| SP1: | |   | |   | |   | |   | - |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | - |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for KDM5C
5 Ensembl transcripts including schematic representations: ENST00000375383
ENST00000375379
ENST00000404049
ENST00000349663
ENST00000375401
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Expression for KDM5C
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| KDM5C expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for KDM5C
1 / 2 7 probe-sets matching KDM5C gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: TTGTAATAAA
SOURCE GeneReport for Unigene cluster: Hs.631768 UniProtKB/Swiss-Prot: KDM5C_HUMAN, P41229Tissue specificity: Expressed in all tissues examined. Highest levels found in brain and skeletal muscle |
Orthologs for KDM5C
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for KDM5C gene from 5/7 species (see all 7
)
About this table Species with no ortholog for KDM5C
ENSEMBL Gene Tree for KDM5C | Paralogs for KDM5C(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for KDM5C gene
- ENSG000001171392 KDM5A2 KDM5D2
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SNPs/Variants for KDM5C(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
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HapMap Linkage Disequilibrium images for KDM5C (up to first 250kb)
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Disorders & Mutations for KDM5C
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 314690
UniProtKB/Swiss-Prot: KDM5C_HUMAN, P41229
Defects in KDM5C are a cause of X-linked mental retardation (XLMR) [MIM:300534]. Mental retardation is usually defined as cognitive impairment with an IQ less than 70. Etiologically, mental retardation is a very heterogeneous condition that involves environmental, stochastic and/or genetic factors1 Novoseek disease relationship for KDM5C gene
About this table
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Medical News for KDM5C(Possibly Related Articles in
Doctor's Guide)
About This Section
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Publications for KDM5C (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/24 PubMed articles for KDM5C gene (see all 24
):- Isolation and characterization of XE169, a novel human gene that escapes X-inactivation. (PubMed id 8162017)1, 2, 3, 4 Wu J....Shapiro L.J. (1994)
- A novel X gene with a widely transcribed Y-linked homologue escapes X-inactivation in mouse and human. (PubMed id 7951230)2, 3, 4 Agulnik A.I.... Bishop C.E. (1994)
- Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. (PubMed id 15586325)1, 3, 4 Jensen L.R.... Lenzner S. (2005)
- A novel mutation in JARID1C gene associated with mental retardation. (PubMed id 16538222)1, 3, 4 Santos C....Mila M. (2006)
- The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases. (PubMed id 17320160)3, 4 Iwase S.... Shi Y. (2007)
- The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation. (PubMed id 17468742)3, 4 Tahiliani M.... Shi Y. (2007)
- A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)3, 4 Beausoleil S.A.... Gygi S.P. (2006)
- Novel JARID1C/SMCX mutations in patients with X-linked mental retardation. (PubMed id 16541399)3, 4 Tzschach A.... Jensen L.R. (2006)
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)3, 4 Olsen J.V....Mann M. (2006)
- The DNA sequence of the human X chromosome. (PubMed id 15772651)3, 4 Ross M.T.... Bentley D.R. (2005)
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Search for KDM5C
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
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Genome Databases showing KDM5C
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing KDM5C
(According to HUGE)
About This Section
| -- |
Specialized Databases showing KDM5C(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
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| Name | Description |
| GeneReviews | http://www.genetests.org/query?gene=JARID1C |
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| Services for KDM5C(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for KDM5C:

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Incremental update: 13 Oct 2009
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