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

Gene ID: 333639, updated on 2-Nov-2024

Summary

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
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Genomic context

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

Expression

  • Project title: Mouse ENCODE transcriptome data 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (2) 
  • Targeted (3)  1 citation

General gene information

Markers

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

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_001081354.2NP_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_001256048.1NP_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_011247622.3XP_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_036161995.1XP_036017888.1  mastermind-like domain-containing protein 1 isoform X2

    UniProtKB/TrEMBL
    B2RXV1, D3Z768
  3. XM_017318531.2XP_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