MAMLD1 (mastermind like domain containing 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10046
Gene name Gene Name - the full gene name approved by the HGNC.
Mastermind like domain containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MAMLD1
Synonyms (NCBI Gene) Gene synonyms aliases
CG1, CXorf6, F18, HYSP2
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq28
Summary Summary of gene provided in NCBI Entrez Gene.
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. [p
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
SNP ID Visualize variation Clinical significance Consequence
rs121909493 G>T Pathogenic Coding sequence variant, stop gained
rs121909494 C>T Pathogenic Coding sequence variant, stop gained
rs121909495 C>T Pathogenic Coding sequence variant, stop gained, intron variant
rs1135402752 G>T Pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(31)
miRTarBase ID miRNA Experiments Reference
MIRT017096 hsa-miR-335-5p Microarray 18185580
MIRT456091 hsa-miR-6758-5p PAR-CLIP 23592263
MIRT456092 hsa-miR-6856-5p PAR-CLIP 23592263
MIRT456090 hsa-miR-6873-5p PAR-CLIP 23592263
MIRT456089 hsa-miR-3927-3p PAR-CLIP 23592263
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(12)
GO ID Ontology Definition Evidence Reference
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
GO:0005794 Component Golgi apparatus IDA
GO:0005813 Component Centrosome IDA
GO:0006357 Process Regulation of transcription by RNA polymerase II IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
300120 2568 ENSG00000013619
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q13495
Protein name Mastermind-like domain-containing protein 1 (F18) (Protein CG1)
Protein function Transactivates the HES3 promoter independently of NOTCH proteins. HES3 is a non-canonical NOTCH target gene which lacks binding sites for RBPJ.
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed in fetal brain, fetal ovary and fetal testis. Expressed in adult brain, ovary, skin, testis, uterus. Highly expressed in skeletal muscle. {ECO:0000269|PubMed:18162467}.
Sequence 
MDDWKSRLVIKSMLPHFAMVGNRQEPRKLQESGKKPSWMEEEDLSFLYKSSPGRKHQGTV
KRRQEEDHFQFPDMADGGYPNKIKRPCLEDVTLAMGPGAHPSTACAELQVPPLTINPSPA
AMGVAGQSLLLENNPMNGNIMGSPFVVPQTTEVGLKGPTVPYYEKINSVPAVDQELQELL
EELTKIQDPSPNELDLEKILGTKPEEPLVLDHPQATLSTTPKPSVQMSHLESLASSKEFA
SSCSQVTGMSLQIPSSSTGISYSIPSTSKQIVSPSSSMAQSKSQVQAMLPVALPPLPVPQ
WHHAHQLKALAASKQGSATKQQGPTPSWSGLPPPGLSPPYRPVPSPHPPPLPLPPPPPPF
SPQSLMVSCMSSNTLSGSTLRGSPNALLSSMTSSSNAALGPAMPYAPEKLPSPALTQQPQ
FGPQSSILANLMSSTIKTPQGHLMSALPASNPGPSPPYRPEKLSSPGLPQQSFTPQCSLI
RSLTPTSNLLSQQQQQQQQQQQANVIFKPISSNSSKTLSMIMQQGMASSSPGATEPFTFG
NTKPLSHFVSEPGPQKMPSMPTTSRQPSLLHYLQQPTPTQASSATASSTATATLQLQQQQ
QQQQQQPDHSSFLLQQMMQQPQRFQRSVASDSMPALPRQGCCHLFAWTSAASSVKPQHQH
GNSFTSRQDPQPGDVSPSNITHVDKACKLGEARHPQVSLGRQPPSCQALGSESFLPGSSF
AHELARVTSSYSTSEAAPWGSWDPKAWRQVPAPLLPSCDATARGTEIRSYGNDP
Sequence length 774
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Pre-NOTCH Transcription and Translation
NOTCH1 Intracellular Domain Regulates Transcription
NOTCH2 intracellular domain regulates transcription
Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
Notch-HLH transcription pathway
RUNX3 regulates NOTCH signaling
NOTCH3 Intracellular Domain Regulates Transcription
NOTCH4 Intracellular Domain Regulates Transcription
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hypospadias, X-Linked hypospadias 2, x-linked rs121909493, rs121909494, rs121909495, rs1135402752 N/A
Show/Hide Text Mining Associations (17)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Anorchia Associate 21853106, 27383042
Cryptorchidism Associate 27383042
Disorder of Sex Development 46 XY Associate 22479329, 27383042, 27490115, 33424767
Disorders of Sex Development Associate 22479329, 33424767
Ependymoma Associate 30246434, 32474813, 33481105
Hypogonadism Associate 27383042, 35837313
Hypospadias Associate 22479329, 27383042, 28199199, 35837313
Leukemia Myeloid Acute Associate 23147993
Neoplasms Associate 34314101
Nerve Sheath Neoplasms Associate 35766997