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SCMH1 Gene

protein-coding   GIFtS: 56
GCID: GC01M041527

Sex Comb On Midleg Homolog 1 (Drosophila)

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Sex Comb On Midleg Homolog 1 (Drosophila)1 2
Scml32
Polycomb Protein SCMH12
Sex Comb On Midleg Homolog 13

External Ids:    HGNC: 190031   Entrez Gene: 229552   Ensembl: ENSG000000108037   UniProtKB: Q96GD33   

Export aliases for SCMH1 gene to outside databases

Previous GC identifers: GC01M040496 GC01M040956 GC01M040906 GC01M041161 GC01M041265 GC01M039609


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for SCMH1 Gene:
SCMH1 (sex comb on midleg homolog 1 (Drosophila)) is a protein-coding gene. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity. An important paralog of this gene is L3MBTL1.

UniProtKB/Swiss-Prot: SCMH1_HUMAN, Q96GD3
Function: Associates with Polycomb group (PcG) multiprotein complexes; the complex class is required to maintain
the transcriptionally repressive state of some genes (By similarity)

Gene Wiki entry for SCMH1 Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SCMH1 gene promoter:
         Bach1   POU3F1   CUTL1   MEF-2A   S8   c-Rel   POU2F1   POU2F1a   aMEF-2   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSCMH1 promoter sequence
   Search Chromatin IP Primers for SCMH1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SCMH1


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

Entrez Gene cytogenetic band: 1p34   Ensembl cytogenetic band:  1p34.2   HGNC cytogenetic band: 1p34

SCMH1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SCMH1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M041527:  view genomic region     (about GC identifiers)

Start:
41,492,871 bp from pter      End:
41,707,826 bp from pter
Size:
214,956 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: SCMH1_HUMAN, Q96GD3 (See protein sequence)
Recommended Name: Polycomb protein SCMH1  
Size: 660 amino acids; 73354 Da
Subunit: Interacts with the SAM domain of PHC1 via its SAM domain in vitro (By similarity). Associates with a
PRC1-like complex
1 PDB 3D structure from and Proteopedia for SCMH1:
2P0K (3D)    
Secondary accessions: B4DRQ8 Q5VT76 Q6IAJ4 Q8WU48 Q9UKM5 Q9UKM6
Alternative splicing: 6 isoforms:  Q96GD3-1   Q96GD3-2   Q96GD3-3   Q96GD3-4   Q96GD3-5   Q96GD3-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SCMH1: NX_Q96GD3

Explore proteomics data for SCMH1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SCMH1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (7 alternative transcripts): 
    NP_001026864.1  NP_001165689.1  NP_001165690.1  NP_001165691.1  NP_001165692.1  NP_001165693.1  NP_036368.1  

    ENSEMBL proteins: 
     ENSP00000318094   ENSP00000361676   ENSP00000337352   ENSP00000361678   ENSP00000361677  
     ENSP00000354996   ENSP00000403974   ENSP00000386079   ENSP00000380359   ENSP00000380356  
     ENSP00000354656  
    Reactome Protein details: Q96GD3

    SCMH1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate for SCMH1
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    Novus Biologicals SCMH1 Protein
    Novus Biologicals SCMH1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for SCMH1 

     
    antibodies-online proteins for SCMH1 (4 products) 

     
    antibodies-online peptides for SCMH1

    SCMH1 Antibody Products:

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    Abcam antibodies for SCMH1
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    ThermoFisher Antibody for SCMH1
    LSBio Antibodies in human, mouse, rat for SCMH1
    antibodies-online antibodies for SCMH1 (19 products) 

    SCMH1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse ELISAs at Cloud-Clone Corp.
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    Search eBioscience for ELISAs for SCMH1 
    antibodies-online kits for SCMH1 (4 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SAMD: Sterile alpha motif (SAM) domain containing

    5 InterPro protein domains:
     IPR004092 Mbt
     IPR021129 SAM_type1
     IPR013761 SAM/pointed
     IPR001660 SAM
     IPR021987 DUF3588

    Graphical View of Domain Structure for InterPro Entry Q96GD3

    ProtoNet protein and cluster: Q96GD3

    1 Blocks protein domain: IPB001660 Sterile alpha motif SAM

    UniProtKB/Swiss-Prot: SCMH1_HUMAN, Q96GD3
    Similarity: Belongs to the SCM family
    Similarity: Contains 2 MBT repeats
    Similarity: Contains 1 SAM (sterile alpha motif) domain


    Find genes that share domains with SCMH1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SCMH1_HUMAN, Q96GD3
    Function: Associates with Polycomb group (PcG) multiprotein complexes; the complex class is required to maintain
    the transcriptionally repressive state of some genes (By similarity)

         Genatlas biochemistry entry for SCMH1:
    Drosophila sex comb on midley homolog,widely expressed,with isoforms

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding TAS10524249
    GO:0003700sequence-specific DNA binding transcription factor activity TAS10524249
    GO:0005515protein binding ----
         
    Find genes that share ontologies with SCMH1           About GenesLikeMe


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Scmh1):
     cellular  endocrine/exocrine gland  hematopoietic system  immune system  reproductive system 
     skeleton 

    Find genes that share phenotypes with SCMH1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Scmh1tm1Hko for SCMH1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SCMH1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SCMH1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SCMH1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SCMH1

    miRNA
    Products:
        
    miRTarBase miRNAs that target SCMH1:
    hsa-mir-10b-5p (MIRT047441), hsa-mir-192-5p (MIRT026128), hsa-mir-215-5p (MIRT024711), hsa-mir-532-3p (MIRT037923), hsa-let-7e-5p (MIRT051461)

    Block miRNA regulation of human, mouse, rat SCMH1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SCMH1 (see all 29):
    hsa-miR-148b* hsa-miR-1226 hsa-miR-539 hsa-miR-15a hsa-miR-29c hsa-miR-29a hsa-miR-340 hsa-miR-766
    SwitchGear 3'UTR luciferase reporter plasmidSCMH1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SCMH1
    Predesigned siRNA for gene silencing in human, mouse, rat SCMH1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SCMH1

    Clone
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    OriGene clones in human, mouse for SCMH1 (see all 36)
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    GenScript: all cDNA clones in your preferred vector (see all 7): SCMH1 (NM_001031694)
    Sino Biological Human cDNA Clone for SCMH1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SCMH1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SCMH1

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SCMH1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SCMH1_HUMAN, Q96GD3: Nucleus (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol2
    golgi apparatus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IC10524249
    GO:0005654nucleoplasm TAS--
    GO:0010369chromocenter IEA--

    Find genes that share ontologies with SCMH1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for SCMH1 About    
    See pathways by source

    SuperPathContained pathways About
    1Cellular Senescence
    Cellular Senescence0.81
    Oxidative Stress Induced Senescence0.64
    Cellular responses to stress0.81


    Find genes that share SuperPaths with SCMH1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for SCMH1
        Oxidative Stress Induced Senescence


        Pathway & Disease-focused RT2 Profiler PCR Array including SCMH1: 
              Polycomb & Trithorax Complexes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SCMH1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SCMH1 (Q96GD32, 3 ENSP000003180944) via UniProtKB, MINT, STRING, and/or I2D (see all 72)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4HP628053, ENSP000002893524I2D: score=1 STRING: ENSP00000289352
    HIST1H4FP628053, ENSP000003669744I2D: score=1 STRING: ENSP00000366974
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006338chromatin remodeling IEA--
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0007283spermatogenesis IEA--
    GO:0009653anatomical structure morphogenesis TAS10524249

    Find genes that share ontologies with SCMH1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SCMH1

    1 DrugBank Compound for SCMH1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Beta-Mercaptoethanol-- 60-24-2target--10592235



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SCMH1 gene (7 alternative transcripts): 
    NM_001031694.2  NM_001172218.1  NM_001172219.1  NM_001172220.1  NM_001172221.1  NM_001172222.1  NM_012236.3  

    Unigene Cluster for SCMH1:

    Sex comb on midleg homolog 1 (Drosophila)
    Hs.571874  [show with all ESTs]
    Unigene Representative Sequence: NM_001172218
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000326197(uc010ojs.1) ENST00000372595(uc001cgp.3) ENST00000337495
    ENST00000372597(uc001cgq.3 uc001cgt.3) ENST00000372596(uc001cgr.3 uc001cgs.3)
    ENST00000472037 ENST00000460215 ENST00000498793 ENST00000489421 ENST00000482530
    ENST00000488592 ENST00000361705 ENST00000456518(uc010ojr.2) ENST00000402904(uc001cgo.3)
    ENST00000397174 ENST00000397171 ENST00000361191
    miRNA
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    Block miRNA regulation of human, mouse, rat SCMH1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SCMH1 (see all 29):
    hsa-miR-148b* hsa-miR-1226 hsa-miR-539 hsa-miR-15a hsa-miR-29c hsa-miR-29a hsa-miR-340 hsa-miR-766
    SwitchGear 3'UTR luciferase reporter plasmidSCMH1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SCMH1
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 7): SCMH1 (NM_001031694)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SCMH1
    Primer
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    OriGene qPCR primer pairs and template standards for SCMH1
    OriGene qSTAR qPCR primer pairs in human, mouse for SCMH1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SCMH1
      QuantiTect SYBR Green Assays in human, mouse, rat SCMH1
      QuantiFast Probe-based Assays in human, mouse, rat SCMH1

    Additional mRNA sequence: 

    AF149045.1 AF149046.1 AK023124.1 AK299383.1 AK301497.1 BC009752.2 BC021252.2 BX640721.1 
    CR457161.1 

    22 DOTS entries:

    DT.100790555  DT.446505  DT.101983348  DT.75118325  DT.100790557  DT.97846078  DT.95356528  DT.121361108 
    DT.91685111  DT.40198007  DT.92051470  DT.101973054  DT.100790556  DT.100790562  DT.95087219  DT.95087223 
    DT.95087230  DT.99930795  DT.100720529  DT.121361095  DT.121361149  DT.421831 

    Selected AceView cDNA sequences (see all 194):

    AI376857 BQ652074 AU280062 AI492271 AL556815 AU125678 CA394249 BM714777 
    BE328038 BE777977 AA992963 BQ100709 BQ054217 BM988646 BE275243 BE855771 
    BF589203 AI472225 CD624341 AI670690 T34096 CD624343 BC009752 BX420965 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SCMH1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGGACTGAG
    SCMH1 Expression
    About this image


    SCMH1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
    SCMH1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SCMH1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.571874

    UniProtKB/Swiss-Prot: SCMH1_HUMAN, Q96GD3
    Tissue specificity: Strongly expressed in heart, muscle and pancreas. Weakly expressed in brain, placenta, lung,
    liver and kidney

        Pathway & Disease-focused RT2 Profiler PCR Array including SCMH1: 
              Polycomb & Trithorax Complexes in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for SCMH1
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SCMH1
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    QuantiFast Probe-based Assays in human, mouse, rat SCMH1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SCMH1

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for SCMH1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Scmh11 , 5 sex comb on midleg homolog 11, 5 91.3(n)1
    93.93(a)1
      4 (56.52 cM)5
    298711  NM_013883.21  NP_038911.11 
     1204052815 
    chicken
    (Gallus gallus)
    Aves SCMH11 sex comb on midleg homolog 1 (Drosophila) 79.39(n)
    86.02(a)
      768916  XM_004947689.1  XP_004947746.1 
    lizard
    (Anolis carolinensis)
    Reptilia SCMH16
    sex comb on midleg homolog 1 (Drosophila)
    77(a)
    1 ↔ 1
    GL343426.1(771258-785054)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC060018.12   -- 77.45(n)    BC060018.1 
    zebrafish
    (Danio rerio)
    Actinopterygii scmh16
    sex comb on midleg homolog 1 (Drosophila)
    56(a)
    1 ↔ 1
    16(39528909-39559413) ENSDARG00000069932
    fruit fly
    (Drosophila melanogaster)
    Insecta Scm3 gene silencing specific RNA polymerase
    II transcription more
    58(a)   3 85E2   --


    ENSEMBL Gene Tree for SCMH1 (if available)
    TreeFam Gene Tree for SCMH1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SCMH1 gene
    L3MBTL12  L3MBTL22  SCML42  L3MBTL32  SFMBT12  SCML12  L3MBTL42  SCML22  
    SFMBT22  MBTD12  
    5 SIMAP similar genes for SCMH1 using alignment to 2 protein entries:     SCMH1_HUMAN (see all proteins):
    HPH1    SCML4    SCML2    SAMD13    SFMBT2

    Find genes that share paralogs with SCMH1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for SCMH1
    PGOHUM00000242622


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SCMH1 (see all 3451)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1879667641,2
    --39826937(+) TCTCTA/GTGAAT 4 -- us2k10--------
    rs1507926491,2
    --41510145(+) GGCAGA/GAAGGA 7 -- int10--------
    rs1876205751,2
    --41510174(+) GGAATC/TAGAAG 7 -- int10--------
    rs1391853901,2
    --41510203(+) TTGTCA/TGGGCA 7 -- int10--------
    rs22686811,2
    C,F,H--41510339(-) TCCCCA/GTTTTC 7 -- int111Minor allele frequency- G:0.12EA NS NA 2336
    rs1922999401,2
    --41510454(+) TGGCTC/GAATCA 7 -- int10--------
    rs729426521,2
    C,F--41510455(+) GGCTGG/AATCAG 7 -- int11Minor allele frequency- A:0.50WA 2
    rs1873371721,2
    --41510688(+) ACCCCA/CATTCA 7 -- int10--------
    rs22686801,2
    C,F,H--41510708(-) ATTCTG/AAAAGA 7 -- int111Minor allele frequency- A:0.07EA NS NA 2574
    rs1922370961,2
    --41510725(+) TAGGCC/TTAACT 7 -- int10--------

    HapMap Linkage Disequilibrium report for SCMH1 (41492871 - 41707826 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for SCMH1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2669275CNV Deletion23128226
    esv2571087CNV Deletion19546169
    esv269066CNV Insertion20981092
    esv24588CNV Loss19812545
    nsv519146CNV Gain19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SCMH1
    DNA2.0 Custom Variant and Variant Library Synthesis for SCMH1

    (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.)
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    Find genes that share disorders with SCMH1           About GenesLikeMe

    Genetic Association Database (GAD): SCMH1
    Human Genome Epidemiology (HuGE) Navigator: SCMH1 (2 documents)

    Export disorders for SCMH1 gene to outside databases

    (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)
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    PubMed articles for SCMH1 gene, integrated from 10 sources (see all 22):
    (articles sorted by number of sources associating them with SCMH1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human homolog of Sex comb on midleg (SCMH1) maps to chromosome 1p34. (PubMed id 10524249)1, 2, 3 Berger J....Randazzo F. (Gene 1999)
    2. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PubMed id 20546612)1, 4 Zhao J....Grant S.F. (BMC Med. Genet. 2010)
    3. Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966. (PubMed id 19266077)1, 4 Sovio U....Jarvelin M.R. (PLoS Genet. 2009)
    4. Genome-wide association analysis identifies 20 loci that influence adult height. (PubMed id 18391952)1, 4 Weedon M.N....Frayling T.M. (Nat. Genet. 2008)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. The core of the polycomb repressive complex is compositionally and functionally conserved in flies and humans. (PubMed id 12167701)1, 2 Levine S.S....Kingston R.E. (Mol. Cell. Biol. 2002)
    9. Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. (PubMed id 23563607)1 Berndt S.I....Ingelsson E. (Nat. Genet. 2013)
    10. Scmh1 has E3 ubiquitin ligase activity for geminin and histone H2A and regulates geminin stability directly or indirectly via transcriptional repression of Hoxa9 and Hoxb4. (PubMed id 23207902)1 Yasunaga S....Takihara Y. (Mol. Cell. Biol. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 22955 HGNC: 19003 AceView: SCMH1 Ensembl:ENSG00000010803 euGenes: HUgn22955
    ECgene: SCMH1 H-InvDB: SCMH1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for SCMH1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for SCMH1 gene:
    Search GeneIP for patents involving SCMH1

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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