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    Scmh1 sex comb on midleg homolog 1 [ Mus musculus (house mouse) ]

    Gene ID: 29871, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Scmh1provided by MGI
    Official Full Name
    sex comb on midleg homolog 1provided by MGI
    Primary source
    MGI:MGI:1352762
    See related
    Ensembl:ENSMUSG00000000085 AllianceGenome:MGI:1352762
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Scml1; Scml3
    Summary
    Predicted to enable chromatin binding activity and histone binding activity. Acts upstream of or within anterior/posterior pattern specification; chromatin remodeling; and spermatogenesis. Located in chromocenter and male germ cell nucleus. Is expressed in several structures, including branchial arch; genitourinary system; gut; limb; and nervous system. Orthologous to human SCMH1 (Scm polycomb group protein homolog 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis adult (RPKM 9.0), bladder adult (RPKM 6.2) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Scmh1 in Genome Data Viewer
    Location:
    4 D2.1; 4 56.52 cM
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (120262347..120387397)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (120405150..120530200)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 36499 Neighboring gene predicted gene, 36574 Neighboring gene VISTA enhancer mm145 Neighboring gene STARR-seq mESC enhancer starr_11247 Neighboring gene STARR-seq mESC enhancer starr_11248 Neighboring gene STARR-seq mESC enhancer starr_11249 Neighboring gene schlafen like 1 Neighboring gene cytidine 5'-triphosphate synthase 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. CircRNA SCMH1 regulates the miR-200a-3p/ZEB1 signaling axis to promote diabetes-induced retinal epithelial-mesenchymal transition. He Y, et al. Exp Eye Res, 2022 Nov. PMID 36162459
    2. Mammalian Polycomb Scmh1 mediates exclusion of Polycomb complexes from the XY body in the pachytene spermatocytes. Takada Y, et al. Development, 2007 Feb. PMID 17215307
    3. A novel member of murine Polycomb-group proteins, Sex comb on midleg homolog protein, is highly conserved, and interacts with RAE28/mph1 in vitro. Tomotsune D, et al. Differentiation, 1999 Dec. PMID 10653359
    4. 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. Yasunaga S, et al. Mol Cell Biol, 2013 Feb. PMID 23207902, Free PMC Article
    5. TIPT2 and geminin interact with basal transcription factors to synergize in transcriptional regulation. Pitulescu ME, et al. BMC Biochem, 2009 Jun 10. PMID 19515240, Free PMC Article

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CircRNA SCMH1 regulates the miR-200a-3p/ZEB1 signaling axis to promote diabetes-induced retinal epithelial-mesenchymal transition.
      Title: CircRNA SCMH1 regulates the miR-200a-3p/ZEB1 signaling axis to promote diabetes-induced retinal epithelial-mesenchymal transition.
    2. Loss of Scmh1 caused derepression of Hoxb4 and Hoxa9, direct targets of Polycomb-group complex 1-mediated transcriptional silencing in hematopoietic cells.
      Title: 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.
    3. Scmh1 is involved in regulating the sequential changes in chromatin modifications at the XY chromatin domain of the pachytene spermatocytes.
      Title: Mammalian Polycomb Scmh1 mediates exclusion of Polycomb complexes from the XY body in the pachytene spermatocytes.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (5)  1 citation

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables histone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within anterior/posterior pattern specification IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within chromatin remodeling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in heterochromatin formation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of DNA-templated transcription NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    acts_upstream_of_or_within spermatogenesis IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within spermatogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in chromocenter IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in male germ cell nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    polycomb protein SCMH1
    Names
    sex comb on midleg 1
    sex comb on midleg-like 1
    sex comb on midleg-like 3

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001159630.2 → NP_001153102.1  polycomb protein SCMH1 isoform 2

      See identical proteins and their annotated locations for NP_001153102.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate segment in the 3' coding region, compared to variant 1. The resulting isoform (2) has a longer and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AL611924, AL626767
      Consensus CDS
      CCDS51292.1
      UniProtKB/Swiss-Prot
      B1AS51, Q8K214, Q9JME0
      Related
      ENSMUSP00000101908.2, ENSMUST00000106301.8
      Conserved Domains (4) summary
      cd09578
      Location:591 → 661
      SAM_Scm; SAM domain of Scm proteins of Polycomb group
      smart00454
      Location:594 → 661
      SAM; Sterile alpha motif
      smart00561
      Location:31 → 126
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
      pfam12140
      Location:357 → 465
      DUF3588; Protein of unknown function (DUF3588)

    2. NM_001379184.1 → NP_001366113.1  polycomb protein SCMH1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL611924, AL626767
      Conserved Domains (4) summary
      cd09578
      Location:599 → 669
      SAM_Scm; SAM domain of Scm proteins of Polycomb group
      smart00561
      Location:39 → 134
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
      pfam12140
      Location:365 → 473
      SLED; SLED domain
      pfam17208
      Location:278 → 327
      RBR; RNA binding Region

    3. NM_001379185.1 → NP_001366114.1  polycomb protein SCMH1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL611924, AL626767
      Consensus CDS
      CCDS18589.1
      Conserved Domains (4) summary
      cd09578
      Location:591 → 661
      SAM_Scm; SAM domain of Scm proteins of Polycomb group
      smart00561
      Location:31 → 126
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
      pfam12140
      Location:357 → 465
      SLED; SLED domain
      pfam17208
      Location:270 → 319
      RBR; RNA binding Region

    4. NM_001379186.1 → NP_001366115.1  polycomb protein SCMH1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL611924, AL626767
      Conserved Domains (4) summary
      cd09578
      Location:567 → 637
      SAM_Scm; SAM domain of Scm proteins of Polycomb group
      smart00561
      Location:7 → 102
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
      pfam12140
      Location:333 → 441
      SLED; SLED domain
      pfam17208
      Location:246 → 295
      RBR; RNA binding Region

    5. NM_001404090.1 → NP_001391019.1  polycomb protein SCMH1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL611924, AL626767
      UniProtKB/Swiss-Prot
      B1AS51, Q8K214, Q9JME0

    6. NM_001404102.1 → NP_001391031.1  polycomb protein SCMH1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL611924, AL626767

    7. NM_001404103.1 → NP_001391032.1  polycomb protein SCMH1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL611924, AL626767

    8. NM_013883.3 → NP_038911.1  polycomb protein SCMH1 isoform 1

      See identical proteins and their annotated locations for NP_038911.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes isoform (1). Variants 1 and 3 encode the same isoform (1).
      Source sequence(s)
      AL611924, AL626767
      Consensus CDS
      CCDS18589.1
      UniProtKB/Swiss-Prot
      Q8K214
      Related
      ENSMUSP00000000087.7, ENSMUST00000000087.13
      Conserved Domains (4) summary
      cd09578
      Location:591 → 661
      SAM_Scm; SAM domain of Scm proteins of Polycomb group
      smart00561
      Location:31 → 126
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
      pfam12140
      Location:357 → 465
      SLED; SLED domain
      pfam17208
      Location:270 → 319
      RBR; RNA binding Region

    RNA

    1. NR_175812.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL611924, AL626767

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000070.7 Reference GRCm39 C57BL/6J

      Range
      120262347..120387397
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006503149.3 → XP_006503212.1  polycomb protein SCMH1 isoform X3

      Conserved Domains (4) summary
      smart00561
      Location:39 → 134
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
      pfam12140
      Location:365 → 473
      SLED; SLED domain
      pfam17208
      Location:278 → 327
      RBR; RNA binding Region
      cl15755
      Location:599 → 636
      SAM_superfamily; SAM (Sterile alpha motif )

    2. XM_017320253.2 → XP_017175742.1  polycomb protein SCMH1 isoform X1

      UniProtKB/Swiss-Prot
      Q8K214
      Related
      ENSMUSP00000101905.4, ENSMUST00000106298.10
      Conserved Domains (4) summary
      cd09578
      Location:591 → 661
      SAM_Scm; SAM domain of Scm proteins of Polycomb group
      smart00561
      Location:31 → 126
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
      pfam12140
      Location:357 → 465
      SLED; SLED domain
      pfam17208
      Location:270 → 319
      RBR; RNA binding Region

    RNA

    1. XR_004941919.1 RNA Sequence

    2. XR_003954960.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8K214.1 GenPept UniProtKB/Swiss-Prot:Q8K214

    Gene LinkOut

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