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KDM3A Gene

protein-coding   GIFtS: 46

GC02P086521
lysine (K)-specific demethylase 3A
(Previous names: jumonji domain containing 1, jumonji domain containing 1A )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: JMJD1, JMJD1A)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
DKFZp686A24246 2
DKFZp686P07111 2
EC 1.14.11.- 3
JHDM2A 2, 3
JHMD2A 1, 2
JMJD1 2, 3
JMJD1A 2, 3
KIAA0742 1, 2, 3
OTTHUMP00000160707 2
TSGA 1, 2, 3
Descriptions
JmjC domain-containing histone demethylation protein 2A 3
Jumonji domain-containing protein 1A 3
jumonji C domain-containing histone demethylase 2A 2
jumonji domain containing 1 1, 2
jumonji domain containing 1A 1, 2
lysine (K)-specific demethylase 3A 2
lysine-specific demethylase 3A 1
testis-specific protein A 2
External Ids
HGNC: 208151
Entrez Gene: 558182
UniProtKB: Q9Y4C13
Ensembl: ENSG000001155487
Search outside databases for aliases for KDM3A gene

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for KDM3A:
This gene encodes a zinc finger protein that contains a jumonji domain and may play a role in
hormone-dependent transcriptional activation. Alternative splicing results in multiple transcript
variants. [provided by RefSeq]

UniProtKB/Swiss-Prot: KDM3A_HUMAN, Q9Y4C1
Function: Histone demethylase that specifically demethylates 'Lys-9' of histone H3, thereby playing
a central role in histone code. Preferentially demethylates mono- and dimethylated H3 'Lys-9'
residue, with a preference for dimethylated residue, while it has weak or no activity on
trimethylated H3 'Lys-9'. Demethylation of Lys residue generates formaldehyde and succinate.
Involved in hormone-dependent transcriptional activation, by participating in recruitment to
androgen-receptor target genes, resulting in H3 'Lys-9' demethylation and transcriptional
activation. Involved in spermatogenesis by regulating expression of target genes such as PRM1 and
TMP1 which are required for packaging and condensation of sperm chromatin. Involved in obesity
resistance through regulation of metabolic genes such as PPARA and UCP1

(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: 2p11.2   Ensembl cytogenetic band:  2p11.2   HGNC cytogenetic band: 2p11.2

KDM3A 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 2         GeneLoc Exon Structure

GeneLoc location for GC02P086521:     (about GC identifiers)

Start:
86,521,435 bp from pter
End:
86,573,350 bp from pter
Size:
51,916 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000002.10  NT_022184.14  
(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: KDM3A_HUMAN, Q9Y4C1 (See protein sequence)
Recommended Name: Lysine-specific demethylase 3A  
Size: 1321 amino acids; 147327 Da
Cofactor: Binds 1 Fe(2+) ion per subunit
Subcellular location: Cytoplasm (By similarity). Nucleus (By similarity). Note=Nuclear in round
spermatids. When spermatids start to elongate, localizes to the cytoplasm where it forms distinct
foci which disappear in mature spermatozoa (By similarity)
Secondary accessions: Q53S72 Q68D47 Q68UT9 Q6N050 Q8IY08

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (2 alternative transcripts): 
    NP_001140160.1  NP_060903.2  


    ENSEMBL proteins: 
    ENSP00000386660 ENSP00000386516 ENSP00000323659 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
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    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (KDM3A / JHDM2A)
    Browse Abnova for Human Recombinant Proteins
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    1 Gene Ontology (GO) cellular component term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus IDA16603237
    About this table

    Antibodies for KDM3A: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for KDM3A
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (KDM3A / JHDM2A), each with their AbpromiseSM
    Browse Abnova for Monoclonal and Polyclonal Antibodies
    Novus Biologicals Antibodies for JMJD1A

    Assays for KDM3A: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    2 InterPro domains/families:
     IPR013129 TF_JmjC
     IPR003347 TF_JmjC_AAH


       GeneDecks  KDM3A for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q9Y4C1

    ProtoNet protein and cluster: Q9Y4C1

    UniProtKB/Swiss-Prot: KDM3A_HUMAN, Q9Y4C1
    Domain: The JmjC domain and the C6-type zinc-finger are required for the demethylation activity
    Domain: Leu-Xaa-Xaa-Leu-Leu (LXXLL) motifs are known to mediate the association with nuclear
    receptors (By similarity)
    Similarity: Belongs to the JHDM2 histone demethylase family
    Similarity: Contains 1 JmjC domain

    (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

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (KDM3A)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_018433

                  Applied Biosystems Silencer® siRNAs for KDM3A

                  Sigma-Aldrich siRNA for KDM3A  
                         Sigma-Aldrich shRNA for KDM3A  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_018433
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_018433
                                     untagged cDNA clone in CMV expression vector: NM_018433 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_018433

    UniProtKB/Swiss-Prot: KDM3A_HUMAN, Q9Y4C1
    Function: Histone demethylase that specifically demethylates 'Lys-9' of histone H3, thereby playing
    a central role in histone code. Preferentially demethylates mono- and dimethylated H3 'Lys-9'
    residue, with a preference for dimethylated residue, while it has weak or no activity on
    trimethylated H3 'Lys-9'. Demethylation of Lys residue generates formaldehyde and succinate.
    Involved in hormone-dependent transcriptional activation, by participating in recruitment to
    androgen-receptor target genes, resulting in H3 'Lys-9' demethylation and transcriptional
    activation. Involved in spermatogenesis by regulating expression of target genes such as PRM1 and
    TMP1 which are required for packaging and condensation of sperm chromatin. Involved in obesity
    resistance through regulation of metabolic genes such as PPARA and UCP1
    Enzyme Number (IUBMB): EC 1.14.11.- 

    9 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Kdm3a):

    adipose tissuebehavior/neurologicalendocrine/exocrine glandgrowth/sizehomeostasis/metabolism
    liver/biliary systemmuscleno phenotypic analysisreproductive system

    5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005506 iron ion binding IMP16603237
    GO:0008270 zinc ion binding IEA--
    GO:0016491 oxidoreductase activity IEA--
    GO:0016702 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen IEA--
    GO:0046872 metal ion binding IEA--
    About this table

    (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


      --

    5/8 Gene Ontology (GO) biological process terms (links to tree view) (see all 8 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355 regulation of transcription, DNA-dependent IEA--
    GO:0009755 hormone-mediated signaling IDA16603237
    GO:0016568 chromatin modification IEA--
    GO:0030521 androgen receptor signaling pathway IDA16603237
    GO:0033169 histone H3-K9 demethylation IDA16603237
    About this table
    (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

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for KDM3A

    (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

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (KDM3A)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_018433

                  Sigma-Aldrich siRNA for KDM3A  
                         Sigma-Aldrich shRNA for KDM3A  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_018433  

    REFSEQ mRNAs for KDM3A gene (2 alternative transcripts): 

    NM_001146688.1   NM_018433.5   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_018433  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_018433
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_018433
                                     untagged cDNA clone in CMV expression vector: NM_018433 

    Additional cDNA sequence: 

    AB018285.2 AK074314.1 AK304276.1 BC038297.2 BX640698.1 BX647271.1 BX647752.1 BX648841.1 
    CR749581.1 

    16 DOTS entries:

    DT.95159942  DT.449251  DT.91760885  DT.99948816  DT.40288610  DT.95255426  DT.100787360  DT.120934032 
    DT.97846421  DT.95182295  DT.40112642  DT.75157816  DT.95159941  DT.95303371  DT.95330753  DT.99945375 

    24/210 AceView cDNA sequences (see all 210 ):

    BM669534 AL832150 AW511889 BU679010 BM699317 BM693249 BM669172 CD674187 
    CA432703 BQ020341 BU684149 BX647752 BM720959 CK429407 AA360794 AI492066 
    BQ424139 AW969321 AK125045 AA480252 AI143634 BM678585 NM_018433 BM969680 

    Unigene Cluster for KDM3A:

    Lysine (K)-specific demethylase 3A
    Hs.557425  [show with all ESTs]
    Unigene Representative Sequence: NM_018433


    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for KDM3A (see all 10 )

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^
    SP1:                          -                                                           -                       -                       -                     
    SP2:                          -                                                           -                       -                       -                     
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b · 27c ^ 28 ^ 29 ^ 30 ^ 31
    SP1:                                      -     -                                 
    SP2:                                      -     -                                 
    SP3:                                                                              
    SP4:                                                                              
    SP5:                                                                              

    About this scheme

    ECgene alternative splicing isoforms for KDM3A

    3 Ensembl transcripts including schematic representations:
    ENST00000409556  ENST00000409064  ENST00000312912  
    (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

    KDM3A expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for KDM3A

    1 / 2

    5 probe-sets matching KDM3A gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    34786_at2 U95-A 1 1.00 1.00 1.00 1.00 -- -- -- -- --

    212689_s_at2 U133-A 1 1.00 1.00 -- -- -- -- -- -- --

    242758_x_at2 U133-B 1 0.91 1.00 -- -- -- -- -- -- --

    212689_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    242758_x_at2 U133Plus2 1 0.91 1.00 -- -- -- -- -- -- --
    GeneDecks  KDM3A for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: CATCCTTAAA

    SOURCE GeneReport for Unigene cluster: Hs.557425
    (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 KDM3A gene from 5/8 species (see all 8 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    JMJD1A1   -- jumonji domain containing 1A 92.02(n)
    94.24(a)
    475763  XM_532973.2  XP_532973.2 
    chimpanzee
    (Pan troglodytes)
    JMJD1A1   -- jumonji domain containing 1A 99.52(n)
    99.62(a)
    470424  XM_525805.2  XP_525805.2 
    cow
    (Bos taurus)
    JMJD1A1   -- jumonji domain containing 1A 90.41(n)
    93.01(a)
    536073  XM_616193.3  XP_616193.3 
    rat
    (Rattus norvegicus)
    Jmjd1a1   -- jumonji domain containing 1A 88.67(n)
    91.96(a)
    312440  NM_175764.2  NP_786940.1 
    mouse
    (Mus musculus)
    Kdm3a5
    Jmjd1a1
    65
    lysine (K)-specific demethylase 3A5
    jumonji domain containing 1A1
    89.23(n)1
    91.74(a)1
    1042631  NM_173001.11  NP_766589.11 
     AK0071235  AK0492435  (see all 21)
    About this table        Species with no ortholog for KDM3A

    ENSEMBL Gene Tree for KDM3A
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for KDM3A gene
    KDM3B2  JMJD1C2  HR2  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/226 NCBI SNPs in KDM3A are shown (see all 226 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 54)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 2 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs20302591,2
    A,C,F,H,O86537153(-) ATTTAC/TAACGG 1 I/V mis125Minor allele frequency- T:0.13NS MN EU EA WA NA 2012
    rs101800361,2
    A,C,F,H86520900(+) GCATCG/TATAAT 1 -- ng51 tfbs34Minor allele frequency- T:0.49EU EA WA 418
    --
    rs75980581,2
    A,C86519866(+) atataC/Tgattt 1 -- ng510--------
    rs346050511,2
    C,F86547337(-) ATCCGA/GTGGGG 1 S/P mis15Minor allele frequency- G:0.09NA EU EA WA 490
    --
    rs65476881,2
    C86519876(+) tttctC/Ttttta 1 -- ng51 trp30--------
    rs116774511,2
    H86558840(+) ATGTGT/AGAAGA 1 E/V mis1 ese34Minor allele frequency- A:0.00EU EA WA 418
    --
    rs65476901,2
    C86519972(+) aaaaaA/Tatgct 1 -- ng510--------
    rs134243501,2
    H86537099(+) GTTCAG/AAAGTA 1 K/E mis1 ese34Minor allele frequency- A:0.00EU EA WA 420
    --
    rs65476891,2
    C86519970(+) taaaaA/Gaaatg 1 -- ng510--------
    rs127141871,2
    C,F86544761(+) ACTGCA/GGCAAC 1 A/A syn11Minor allele frequency- G:0.16NA 68
    About this table

    HapMap Linkage Disequilibrium images for KDM3A (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 611512

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (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

    10/14 PubMed articles for KDM3A gene (see all 14 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 55818 HGNC: 20815 AceView: JMJD1A Ensembl:ENSG00000115548 euGenes: HUgn55818
    ECgene: KDM3A H-InvDB: KDM3A
    (According to HUGE)
    About This Section

    HUGE: KIAA0742
    (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

      --
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (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 KDM3A:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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    Gene Index:   3   5   A   B   C   D   E   F   G   H   I   J   K   L   M   N   O   P   Q   R   S   T   U   V   W   X   Y   Z

    Developed at the Crown Human Genome Center & Weizmann Institute of Science



    The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
    KDM3A Gene at Home site.
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