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    Mamld1 mastermind-like domain containing 1 [ Mus musculus (house mouse) ]

    Gene ID: 333639, updated on 14-May-2024

    Summary

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    Official Symbol
    Mamld1provided by MGI
    Official Full Name
    mastermind-like domain containing 1provided by MGI
    Primary source
    MGI:MGI:3045303
    See related
    Ensembl:ENSMUSG00000059401 AllianceGenome:MGI:3045303
    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
    G630014P10Rik
    Summary
    Acts upstream of or within regulation of transcription by RNA polymerase II. Predicted to be located in Golgi apparatus; centrosome; and nucleoplasm. Predicted to be active in nuclear body. Is expressed in cranial ganglion; diaphragm; dorsal root ganglion; lung; and vertebral axis musculature. Human ortholog(s) of this gene implicated in hypospadias. Orthologous to human MAMLD1 (mastermind like domain containing 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in cerebellum adult (RPKM 5.8), ovary adult (RPKM 5.2) and 21 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Mamld1 in Genome Data Viewer
    Location:
    X A7.2; X 36.33 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (70093642..70199662)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (71050036..71156056)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene peptidylprolyl isomerase A pseudogene x_466.1 Neighboring gene predicted gene, 38595 Neighboring gene STARR-positive B cell enhancer ABC_E7692 Neighboring gene STARR-seq mESC enhancer starr_47322 Neighboring gene predicted gene 14730 Neighboring gene X-linked myotubular myopathy gene 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. Knockout of Murine Mamld1 Impairs Testicular Growth and Daily Sperm Production but Permits Normal Postnatal Androgen Production and Fertility. Miyado M, et al. Int J Mol Sci, 2017 Jun 19. PMID 28629181, Free PMC Article
    2. Parturition failure in mice lacking Mamld1. Miyado M, et al. Sci Rep, 2015 Oct 5. PMID 26435405, Free PMC Article
    3. CXorf6 is a causative gene for hypospadias. Fukami M, et al. Nat Genet, 2006 Dec. PMID 17086185
    4. Mamld1 knockdown reduces testosterone production and Cyp17a1 expression in mouse Leydig tumor cells. Nakamura M, et al. PLoS One, 2011 Apr 29. PMID 21559465, Free PMC Article
    5. Mastermind-like domain-containing 1 (MAMLD1 or CXorf6) transactivates the Hes3 promoter, augments testosterone production, and contains the SF1 target sequence. Fukami M, et al. J Biol Chem, 2008 Feb 29. PMID 18162467

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MAMLD1 contributes to the maintenance of postnatal testicular growth and daily sperm production but is dispensable for androgen biosynthesis and fertility.
      Title: Knockout of Murine Mamld1 Impairs Testicular Growth and Daily Sperm Production but Permits Normal Postnatal Androgen Production and Fertility.
    2. MAMLD1 likely participates in functional luteolysis by regulating Stat5b and other genes, independent of the PGF2alpha signaling pathway.
      Title: Parturition failure in mice lacking Mamld1.
    3. Mamld1 deficiency significantly reduces mRNA expression levels of multiple genes expressed in mouse fetal Leydig cells but permits normal genital and reproductive development
      Title: Mamld1 deficiency significantly reduces mRNA expression levels of multiple genes expressed in mouse fetal Leydig cells but permits normal genital and reproductive development.
    4. Mamld1 enhances Cyp17a1 expression primarily in Leydig cells and permit to produce a sufficient amount of testosterone for male sex development, independently of the Hes3-related non-canonical Notch signaling
      Title: Mamld1 knockdown reduces testosterone production and Cyp17a1 expression in mouse Leydig tumor cells.
    5. CXorf6 transactivates the Hes3 promoter, augments testosterone production
      Title: Mastermind-like domain-containing 1 (MAMLD1 or CXorf6) transactivates the Hes3 promoter, augments testosterone production, and contains the SF1 target sequence.
    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 (3)  1 citation

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in nuclear body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nuclear body ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    mastermind-like domain-containing protein 1

    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_001081354.2 → NP_001074823.2  mastermind-like domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001074823.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL731843, BY733469
      Consensus CDS
      CCDS57759.1
      UniProtKB/Swiss-Prot
      B1AW19, P0C6A2
      UniProtKB/TrEMBL
      B2RXP0
      Related
      ENSMUSP00000080737.4, ENSMUST00000082088.10

    2. NM_001256048.1 → NP_001242977.1  mastermind-like domain-containing protein 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon, compared to variant 1. The resulting protein (isoform 2) is shorter than isoform 1.
      Source sequence(s)
      AL731843, BY733469
      Consensus CDS
      CCDS57760.1
      UniProtKB/TrEMBL
      B2RXV1, D3Z768
      Related
      ENSMUSP00000110276.4, ENSMUST00000114629.4

    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_000086.8 Reference GRCm39 C57BL/6J

      Range
      70093642..70199662
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011247622.3 → XP_011245924.1  mastermind-like domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011245924.1

      UniProtKB/Swiss-Prot
      B1AW19, P0C6A2
      UniProtKB/TrEMBL
      B2RXP0

    2. XM_036161995.1 → XP_036017888.1  mastermind-like domain-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      B2RXV1, D3Z768

    3. XM_017318531.2 → XP_017174020.1  mastermind-like domain-containing protein 1 isoform X3

      UniProtKB/TrEMBL
      A0A5F8MPR3
      Related
      ENSMUSP00000159081.2, ENSMUST00000239162.2

    RNA

    1. XR_001782752.2 RNA Sequence

    2. XR_004940345.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0C6A2.1 GenPept UniProtKB/Swiss-Prot:P0C6A2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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