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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ZMAT1 Gene

protein-coding   GIFtS: 41
GCID: GC0XM101137

zinc finger, matrin-type 1

  Search for ZMAT1
in our new
 Human Malady Compendium 
Biological research products
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Zinc Finger, Matrin-Type 11 2
KIAA17891 3
Zinc Finger Matrin-Type Protein 12

External Ids:    HGNC: 293771   Entrez Gene: 844602   Ensembl: ENSG000001664327   UniProtKB: Q5H9K53   

Export aliases for ZMAT1 gene to outside databases

Previous GC identifers: GC0XM100943 GC0XM101023 GC0XM090944


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

Entrez Gene summary for ZMAT1:
This gene encodes a protein containing Cys2-His2 (C2H2)-type zinc fingers, which are similar to those found in the
nuclear matrix protein matrin 3. Alternatively spliced transcript variants have been found for this gene. (provided by
RefSeq, Jan 2012)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_011651.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ZMAT1 gene promoter:
         TBP   HFH-3   Egr-1   Nkx2-2   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   POU3F2   FOXI1   FOXJ2 (long isoform)   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidZMAT1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ZMAT1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ZMAT1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq21   Ensembl cytogenetic band:  Xq22.1   HGNC cytogenetic band: Xq21

ZMAT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ZMAT1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM101137:  view genomic region     (about GC identifiers)

Start:
101,137,260 bp from pter      End:
101,187,039 bp from pter
Size:
49,780 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ZMAT1_HUMAN, Q5H9K5 (See protein sequence)
Recommended Name: Zinc finger matrin-type protein 1  
Size: 638 amino acids; 74755 Da
Subcellular location: Nucleus (Potential)
Sequence caution: Sequence=BAB47418.1; Type=Erroneous initiation;
Secondary accessions: Q8NDS3 Q96JN6
Alternative splicing: 2 isoforms:  Q5H9K5-1   Q5H9K5-2   

Explore the universe of human proteins at neXtProt for ZMAT1: NX_Q5H9K5

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q5H9K5

  • ZMAT1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001011657.2  
    ENSEMBL proteins: 
     ENSP00000361868   ENSP00000437529   ENSP00000413044  

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    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--


    ZMAT1 for ontologies           About GeneDecksing



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

    ZMAT1 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR015880 Znf_C2H2-like
     IPR003604 Znf_U1
     IPR007087 Znf_C2H2

    Graphical View of Domain Structure for InterPro Entry Q5H9K5

    ProtoNet protein and cluster: Q5H9K5

    UniProtKB/Swiss-Prot: ZMAT1_HUMAN, Q5H9K5
    Similarity: Contains 3 matrin-type zinc fingers


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    miRNA
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0008270zinc ion binding IEA--


    ZMAT1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for ZMAT1:
     Synthetic lethal with Ras 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ZMAT1

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ZMAT1
    Search CenterWatch for drugs/clinical trials and news about ZMAT1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    REFSEQ mRNAs for ZMAT1 gene: 
    NM_001011657.3  

    Unigene Cluster for ZMAT1:

    Zinc finger, matrin-type 1
    Hs.496512  [show with all ESTs]
    Unigene Representative Sequence: BC152470
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000372782(uc011mrl.2) ENST00000494068(uc004eim.3) ENST00000488347
    ENST00000490757 ENST00000540921 ENST00000458570(uc004ein.3 uc011mrm.2)


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    hsa-miR-3910 hsa-miR-495 hsa-miR-485-3p hsa-miR-520a-5p hsa-miR-3692 hsa-miR-548a-3p hsa-miR-1323 hsa-miR-7-1*
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    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    AB058692.1 AK094141.1 AK296520.1 AL831883.1 BC028029.1 BC045706.1 BC140920.1 BC152470.1 
    NR_046008.1 NR_046009.1 

    4 DOTS entries:

    DT.100751519  DT.100751520  DT.448510  DT.121304331 

    24/85 AceView cDNA sequences (see all 85):

    AL598531 AA864380 BE766387 CA450632 BE674358 AA937712 BF447849 BF438184 
    AI383874 H98173 BE328846 BE467954 AA459272 AA927811 AB058692 BF111188 
    AL119853 CD237034 BM984593 CB985445 AI985140 AI446419 BM680659 AI564282 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ZMAT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGAGATAATT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See ZMAT1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ZMAT1

    SOURCE GeneReport for Unigene cluster: Hs.496512
        SABiosciences Custom PCR Arrays for ZMAT1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ZMAT1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for ZMAT1 gene from 3/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Zmat11 , 5 zinc finger, matrin type 11, 5 77.33(n)1
    63.32(a)1
      X (56.35 cM)5
    2156931  NM_175446.31  NP_780655.21 
     1349713725 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    36(a)
    1 → many
    6(60448618-60449397)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia AL896116.22   -- 73.96(n)    AL896116.2 


    ENSEMBL Gene Tree for ZMAT1 (if available)
    TreeFam Gene Tree for ZMAT1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ZMAT1 gene
    KRCC12  ZNF3462  ZMAT42  ZMAT32  
    14 SIMAP similar genes for ZMAT1 using alignment to 2 protein entries:     ZMAT1_HUMAN (see all proteins):
    KIAA1651    NCKAP1L    pp12301    C12orf76    TUBA1C    COQ5
    KRCC1    PFKFB3    SNRPF    SH2B3    C21orf37    FP6778
    ATF1    ZMAT4

    ZMAT1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/545 NCBI SNPs in ZMAT1 are shown (see all 545    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs601911971,2
    C,--101136868(+) ATCCTA/GGAATT 3 -- ds50010--------
    rs1927809921,2
    --101137019(+) CTCTAC/TCACTT 3 -- ds50010--------
    rs1406601761,2
    --101137088(+) ACTGAA/GTTTGA 3 -- ds50010--------
    rs1848610221,2
    --101137145(+) TATTAC/TAACTT 3 -- ds50010--------
    rs1437701471,2
    --101137468(+) ATATTA/CCTTGG 3 -- ut31 nc-transcript-variant0--------
    rs1868960861,2
    --101137769(+) TTTTAC/TTTCAC 3 -- nc-transcript-variantut310--------
    rs756195721,2
    C,--101137796(+) TTAAAA/GTAGCC 3 -- nc-transcript-variantut312Minor allele frequency- G:0.25NA WA 4
    rs1481018461,2
    --101138127(+) TGTCTA/GAAGTC 3 -- nc-transcript-variantut310--------
    rs1849808591,2
    --101138132(+) AAAGTC/TCATTT 3 -- ut31 nc-transcript-variant0--------
    rs1893620511,2
    --101138225(+) GATTCC/TTGTCT 3 -- nc-transcript-variantut310--------

    HapMap Linkage Disequilibrium report for ZMAT1 (101137260 - 101187039 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ZMAT1: --
    Locus Specific Mutation Databases (LSDB): ZMAT1

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
      --

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ZMAT1 gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with ZMAT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11347906)1, 2 Nagase T.... Ohara O. (2001)
    2. Keep your fingers off my DNA: protein-protein interac tions mediated by C2H2 zinc finger domains. (PubMed id 18253864)1 Brayer K.J. and Segal D.J. (2008)
    3. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    4. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    6. The DNA sequence of the human X chromosome. (PubMed id 15772651)2 Ross M.T.... Bentley D.R. (2005)
    7. Zinc finger proteins: getting a grip on RNA. (PubMed id 15718139)1 Brown R.S. (2005)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    10. Three classes of C2H2 zinc finger proteins. (PubMed id 11361095)1 Iuchi S. (2001)

    (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, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 84460 HGNC: 29377 AceView: ZMAT1 Ensembl:ENSG00000166432 euGenes: HUgn84460
    ECgene: ZMAT1 H-InvDB: ZMAT1

    (According to HUGE)
    About This Section
    HUGE: KIAA1789

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ZMAT1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ZMAT1 gene:
    Search GeneIP for patents involving ZMAT1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
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    About This Section

     
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 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 


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