Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10046
Gene name	Mastermind like domain containing 1
Gene symbol	MAMLD1
Synonyms (NCBI Gene)	CG1CXorf6F18HYSP2
Chromosome	X
Chromosome location	Xq28
Summary	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

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

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
MIRT456088	hsa-miR-6831-5p	PAR-CLIP	23592263
MIRT456087	hsa-miR-4451	PAR-CLIP	23592263
MIRT456086	hsa-miR-513a-5p	PAR-CLIP	23592263
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
MIRT456088	hsa-miR-6831-5p	PAR-CLIP	23592263
MIRT456087	hsa-miR-4451	PAR-CLIP	23592263
MIRT456086	hsa-miR-513a-5p	PAR-CLIP	23592263
MIRT1126978	hsa-miR-30a	CLIP-seq
MIRT1126979	hsa-miR-30b	CLIP-seq
MIRT1126980	hsa-miR-30c	CLIP-seq
MIRT1126981	hsa-miR-30d	CLIP-seq
MIRT1126982	hsa-miR-30e	CLIP-seq
MIRT1126983	hsa-miR-3927	CLIP-seq
MIRT1126984	hsa-miR-494	CLIP-seq
MIRT1126985	hsa-miR-618	CLIP-seq
MIRT2035957	hsa-miR-21	CLIP-seq
MIRT2035958	hsa-miR-3157-5p	CLIP-seq
MIRT2035959	hsa-miR-34c-3p	CLIP-seq
MIRT2035960	hsa-miR-4691-3p	CLIP-seq
MIRT2035961	hsa-miR-4804-3p	CLIP-seq
MIRT2035962	hsa-miR-590-5p	CLIP-seq
MIRT2035963	hsa-miR-624	CLIP-seq
MIRT1126983	hsa-miR-3927	CLIP-seq

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
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0008584	Process	Male gonad development	IEA
GO:0008584	Process	Male gonad development	IEP	17848411
GO:0016604	Component	Nuclear body	IBA
GO:0016604	Component	Nuclear body	IDA
GO:0048515	Process	Spermatid differentiation	IEA

MIM	HGNC	e!Ensembl
300120	2568	ENSG00000013619

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

	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

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
46,XY ovotesticular disorder of sex development	Pathogenic	rs121909495	RCV002254263
Hypospadias 2, X-linked	Pathogenic	rs121909493, rs121909494, rs121909495, rs1135402752	RCV000012377 RCV000012378 RCV000012379 RCV000496996

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Colon adenocarcinoma	Uncertain significance	rs1460185195	RCV005934952
Disorder of sexual differentiation	Uncertain significance	rs927968522, rs1557404746	RCV001564031 RCV002273835
MAMLD1-related disorder	Benign; Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	rs146443503, rs781802555, rs142908182, rs1181385258, rs782159736, rs2521535918, rs782701412, rs782323826, rs2521535823, rs782453019, rs139460988, rs782372263	RCV003956198 RCV003971189 RCV003903638 RCV003414074 RCV003406035 RCV003929665 RCV003904216 RCV003904601 RCV003924470 RCV003954345 RCV003913255 RCV003978286 RCV003970489
Prostate cancer	Uncertain significance	rs193920839	RCV000149086
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs1460185195	RCV005934953

Show/Hide Text Mining Associations (17)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Penoscrotal transposition	Associate	27383042
Polycystic Ovary Syndrome	Associate	37261354
Renal Insufficiency	Associate	37261354
Sex Chromosome Disorders of Sex Development	Associate	33424767
Supratentorial Neoplasms	Associate	30246434, 34314101
Testicular Microlithiasis	Associate	27383042
Testicular Neoplasms	Associate	27383042

MAMLD1 (mastermind like domain containing 1)