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Mamld1 Gene Detail
Summary
  • Symbol
    Mamld1
  • Name
    mastermind-like domain containing 1
  • Synonyms
    G630014P10Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:3045303
    NCBI Gene: 333639
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:71050256-71156056 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome X, 36.33 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    512 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_3045303
protein coding gene ChrX:71050036-71156056 (+)
129S1/SvImJ MGP_129S1SvImJ_G0035780
protein coding gene ChrX:66682271-66788487 (+)
A/J MGP_AJ_G0035763
protein coding gene ChrX:66888452-67000371 (+)
AKR/J MGP_AKRJ_G0035685
protein coding gene ChrX:68720715-68830783 (+)
BALB/cJ MGP_BALBcJ_G0035750
protein coding gene ChrX:66003027-66109390 (+)
C3H/HeJ MGP_C3HHeJ_G0035453
protein coding gene ChrX:67171165-67280492 (+)
C57BL/6NJ MGP_C57BL6NJ_G0036280
protein coding gene ChrX:68720929-68828239 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0033129
protein coding gene ChrX:66178626-66281546 (+)
CAST/EiJ MGP_CASTEiJ_G0034745
protein coding gene ChrX:52595863-52703470 (+)
CBA/J MGP_CBAJ_G0035428
protein coding gene ChrX:70630196-70738362 (+)
DBA/2J MGP_DBA2J_G0035581
protein coding gene ChrX:66433699-66539914 (+)
FVB/NJ MGP_FVBNJ_G0035532
protein coding gene ChrX:65796050-65903765 (+)
LP/J MGP_LPJ_G0035670
protein coding gene ChrX:67510822-67621749 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0035567
protein coding gene ChrX:73147758-73271300 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0036301
protein coding gene ChrX:66535313-66641852 (+)
PWK/PhJ MGP_PWKPhJ_G0034445
protein coding gene ChrX:50627831-50736320 (+)
SPRET/EiJ MGP_SPRETEiJ_G0034281
protein coding gene ChrX:53485225-53597661 (+)
WSB/EiJ MGP_WSBEiJ_G0034887
protein coding gene ChrX:65882642-65991639 (+)



Homology
more
  • Human Ortholog
    MAMLD1, mastermind like domain containing 1
  • Vertebrate Orthologs
    2
  • Human Ortholog
    MAMLD1, mastermind like domain containing 1
    Orthology source: HGNC
  • Synonyms
    CG1, CXorf6, F18, HYSP2
  • Links
    NCBI Gene ID: 10046
    neXtProt AC: NX_Q13495
    UniProt: Q13495

  • Chr Location
    Xq28; chrX:150361422-150514178 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with human MAMLD1 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    9 phenotypes from 2 alleles in 2 genetic backgrounds
    5 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Male mice exhibit normal male genitalia and fertility.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
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 death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000059401 Ensembl Gene Model | MGI Sequence Detail 105801 C57BL/6J ±  kb
    transcript ENSMUST00000082088 Ensembl | MGI Sequence Detail 4796 Not Applicable  
    polypeptide ENSMUSP00000080737 Ensembl | MGI Sequence Detail 803 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 12
      cDNA 12

      Microarray probesets 1
    References
    more
    • Summaries
      All 24
      Developmental Gene Expression 4
      Gene Ontology 2
      Phenotypes 5
    • Earliest
      J:116501 Fukami M, et al., CXorf6 is a causative gene for hypospadias. Nat Genet. 2006 Dec;38(12):1369-71
    • Latest
      J:244517 Miyado M, et al., Knockout of Murine Mamld1 Impairs Testicular Growth and Daily Sperm Production but Permits Normal Postnatal Androgen Production and Fertility. Int J Mol Sci. 2017 Jun 19;18(6)

    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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    last database update
    11/26/2019
    MGI 6.14
    The Jackson Laboratory