|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedDisorder
|
male infertility
sex reversal
gonadal dysgenesis
46,XX testicular DSD
46,XY DSD
testicular dysgenesis
|
|
gptkbp:associatedWith
|
gptkb:46,XY_gonadal_dysgenesis
testicular development
DMRT2
DMRT3
|
|
gptkbp:conservedIn
|
DM domain
|
|
gptkbp:discoveredIn
|
1998
|
|
gptkbp:Entrez_Gene_ID
|
1761
ENSG00000137558
|
|
gptkbp:expressedIn
|
gptkb:testis
gonads
fetal and adult testis
male-specific
|
|
gptkbp:fullName
|
Doublesex and mab-3 related transcription factor 1
|
|
gptkbp:function
|
transcription factor
sex determination
gonadal development
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
HGNC:2966
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
DMRT1
|
|
gptkbp:length
|
6 exons
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_9
9p24.3
|
|
gptkbp:mutationAssociatedWith
|
deletion
point mutation
sex reversal
gonadal dysgenesis
|
|
gptkbp:OMIM
|
602424
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInChicken
|
gptkb:DMRT1
|
|
gptkbp:orthologInDrosophila
|
gptkb:doublesex
|
|
gptkbp:orthologInMouse
|
Dmrt1
|
|
gptkbp:orthologInZebrafish
|
dmrt1a
|
|
gptkbp:proteinFamily
|
DM domain proteins
DMRT family
|
|
gptkbp:regulates
|
gptkb:SOX9
gptkb:AMH
DNA-binding
testis differentiation
|
|
gptkbp:significance
|
disorders of sex development
|
|
gptkbp:symbol
|
gptkb:DMRT1
|
|
gptkbp:UniProtID
|
Q9Y5R6
|
|
gptkbp:bfsParent
|
gptkb:doublesex
|
|
gptkbp:bfsLayer
|
6
|