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

Gene ID: 333639, updated on 27-Nov-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 several structures, including diaphragm; nervous system; pancreas; reproductive system; 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, Nov 2024]
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. 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
  5. 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

See all (20) 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 male gonad development IEA
Inferred from Electronic Annotation
more info
  
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 IEA
Inferred from Electronic Annotation
more info
  
located_in Golgi apparatus ISO
Inferred from Sequence Orthology
more info
  
located_in centrosome IEA
Inferred from Electronic Annotation
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 IEA
Inferred from Electronic Annotation
more info
  
located_in nuclear body ISO
Inferred from Sequence Orthology
more info
  
located_in nucleoplasm ISO
Inferred from Sequence Orthology
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

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