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Maml1 Gene Detail
Summary
  • Symbol
    Maml1
  • Name
    mastermind like transcriptional coactivator 1
  • Synonyms
    D930008C07Rik, Mam-1, mKIAA0200
  • Feature Type
    protein coding gene
  • IDs
    MGI:1890504
    NCBI Gene: 103806
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:50146461-50183138 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 30.42 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    842 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1890504
 protein coding gene Chr11:50146461-50183163 (-)
129S1/SvImJ MGP_129S1SvImJ_G0018246
 protein coding gene Chr11:49429395-49466017 (-)
A/J MGP_AJ_G0018214
 protein coding gene Chr11:47528612-47566518 (-)
AKR/J MGP_AKRJ_G0018184
 protein coding gene Chr11:49044846-49081290 (-)
BALB/cJ MGP_BALBcJ_G0018184
 protein coding gene Chr11:47807763-47845103 (-)
C3H/HeJ MGP_C3HHeJ_G0017997
 protein coding gene Chr11:49046745-49084321 (-)
C57BL/6NJ MGP_C57BL6NJ_G0018635
 protein coding gene Chr11:50889912-50926275 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0016287
 protein coding gene Chr11:45151722-45190715 (-)
CAST/EiJ MGP_CASTEiJ_G0017559
 protein coding gene Chr11:49018870-49060639 (-)
CBA/J MGP_CBAJ_G0017972
 protein coding gene Chr11:53244749-53284277 (-)
DBA/2J MGP_DBA2J_G0018079
 protein coding gene Chr11:47327650-47364041 (-)
FVB/NJ MGP_FVBNJ_G0018073
 protein coding gene Chr11:46956701-46993671 (-)
LP/J MGP_LPJ_G0018154
 protein coding gene Chr11:49758924-49807449 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0018098
 protein coding gene Chr11:54775232-54812934 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0018679
 protein coding gene Chr11:49149749-49187325 (-)
PWK/PhJ MGP_PWKPhJ_G0017337
 protein coding gene Chr11:47731315-47769805 (-)
SPRET/EiJ MGP_SPRETEiJ_G0017132
 protein coding gene Chr11:48844006-48884518 (-)
WSB/EiJ MGP_WSBEiJ_G0017612
 protein coding gene Chr11:48788973-48825350 (-)



Homology
more
  • Human Ortholog
    MAML1, mastermind like transcriptional coactivator 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MAML1, mastermind like transcriptional coactivator 1
  • Synonyms
    Mam-1, Mam1
  • Links
    NCBI Gene ID: 9794
    neXtProt AC: NX_Q92585
    UniProt: Q92585

  • Chr Location
    5q35.3; chr5:179732822-179777283 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    14 phenotypes from 3 alleles in 3 genetic backgrounds
    9 phenotypes from multigenic genotypes
    1 images
    23 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygous null mice display postnatal lethality, reduced size, and skeletal muscle degeneration and necrosis.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    29
  • GO References
    9
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    771
  • Tissues
    49
  • cDNA Data
    71
  • Literature Summary
    15
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000050567 Ensembl Gene Model | MGI Sequence Detail 36678 C57BL/6J ±  kb
    transcript ENSMUST00000059458 Ensembl | MGI Sequence Detail 5528 Not Applicable  
    polypeptide ENSMUSP00000059210 Ensembl | MGI Sequence Detail 1020 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000010098 mastermind-like protein 1
      (term hierarchy)
    • InterPro Domains
      IPR046369 Mastermind-like 1-3
      IPR048456 Mastermind-like 1/3, transactivation domain 1
      IPR048455 Mastermind-like 1/3, transactivation domain 2
      IPR019082 Neurogenic mastermind-like, N-terminal
      IPR046370 Neurogenic mastermind-like, N-terminal domain superfamily
    Molecular
    Reagents
    less
    • All nucleic 73
      cDNA 71
      Primer pair 1
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2144246, MGI:2144586
    References
    more
    • Summaries
      All 72
      Developmental Gene Expression 15
      Gene Ontology 9
      Phenotypes 23
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:313619 Bedogni F, et al., Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development. Front Mol Neurosci. 2021;14:686034
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory