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Mamld1
Gene Detail
Symbol

Name
ID
Mamld1
mastermind-like domain containing 1
MGI:3045303
Synonyms
G630014P10Rik
Feature Type
protein coding gene
Genetic Map
Chromosome X
36.33 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
ChrX:71050256-71156056 bp, + strand
From VEGA annotation of GRCm38

  105801 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:135712  Vertebrate Homology Class
1 mouse; 1 chimpanzee

HCOP human homology predictions: MAMLD1
Gene Tree: Mamld1

Human
homologs
MAMLD1, mastermind-like domain containing 1
Orthology source: HGNC

IDs:
NCBI Gene ID: 10046
neXtProt AC: NX_Q13495

Human Synonyms: CG1, CXorf6, F18, HYSP2

Human Chr (Location): Xq28; chrX:150361589-150514178 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human MAMLD1

Mutations,
alleles, and
phenotypes
All mutations/alleles(2) : Targeted(2)
 
Male mice exhibit normal male genitalia and fertility.
 
Interactions
Mamld1 interacts with 299 markers (Mir7-1, Mir9-1, Mir9-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (5 annotations)
Process regulation of transcription, DNA-templated, regulation of transcription from RNA polymerase II promoter, ...
Component nucleus
Function molecular_function
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (94)    Tissues (8)    Images (24)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 94
cDNA source data(11)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase mamld1    NEW 
Molecular
reagents
All nucleic(11) cDNA(11)
Microarray probesets(1)
Other database
links
VEGA Gene Model OTTMUSG00000017831 (Evidence)
Ensembl Gene Model ENSMUSG00000059401 (Evidence)
Entrez Gene 333639 (Evidence)
UniGene 371730
DFCI TC1612041
DoTS DT.55279649
NIA Mouse Gene Index U019911
Consensus CDS Project CCDS57759.1, CCDS57760.1
International Mouse Phenotyping Consortium Status Mamld1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000017831 VEGA Gene Model | MGI Sequence Detail 105801 C57BL/6J ±  kb
transcript OTTMUST00000043173 VEGA | MGI Sequence Detail 4796 Not Applicable 
polypeptide OTTMUSP00000026854 VEGA | MGI Sequence Detail 803 Not Applicable 

For the selected sequences
All sequences(33) RefSeq(10) UniProt(5)
Polymorphisms
SNPs within 2kb(512 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR026131 Mastermind-like domain-containing protein 1
Protein Ontology PR:000032307 mastermind-like domain-containing protein 1
References
(Earliest) J:116501 Fukami M, et al., CXorf6 is a causative gene for hypospadias. Nat Genet. 2006 Dec;38(12):1369-71
(Latest) J:192626 Miyado M, et al., Mamld1 deficiency significantly reduces mRNA expression levels of multiple genes expressed in mouse fetal Leydig cells but permits normal genital and reproductive development. Endocrinology. 2012 Dec;153(12):6033-40
All references(23)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory