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Gene: MAMLD1 (mastermind like domain containing 1) Homo sapiens
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Symbol: MAMLD1
Name: mastermind like domain containing 1
Description: This gene encodes a mastermind-like domain containing protein. This protein may function as a transcriptional co-activator. Mutations in this gene are the cause of X-linked hypospadias type 2. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CG1; CXorf6; F18; HYSP2; mastermind-like domain containing 1; mastermind-like domain-containing protein 1
Orthologs:
Mus musculus (house mouse) : Mamld1 (mastermind-like domain containing 1)  MGI  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Mamld1 (mastermind like domain containing 1)
Pan paniscus (bonobo/pygmy chimpanzee) : MAMLD1 (mastermind like domain containing 1)
Canis lupus familiaris (dog) : MAMLD1 (mastermind like domain containing 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Mamld1 (mastermind like domain containing 1)
Sus scrofa (pig) : MAMLD1 (mastermind like domain containing 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X150,361,564 - 150,514,178 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X149,529,836 - 149,682,448 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X149,364,378 - 149,433,104 (+)NCBINCBI36hg18NCBI36
Build 34X149,284,287 - 149,353,007NCBI
CeleraX149,780,137 - 149,930,293 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX138,395,371 - 138,540,296 (+)NCBIHuRef
CHM1_1X149,405,872 - 149,556,741 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on MAMLD1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1344424
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-07-09
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.