MAMLD1 (mastermind like domain containing 1)

Gene

• Entrez ID: 10046
• Gene name: Mastermind like domain containing 1
• Gene symbol: MAMLD1
• Synonyms: CG1, CXorf6, F18, HYSP2
• 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

SNPs

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

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003674	Function	Molecular_function	ND
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	21873635
GO:0008584	Process	Male gonad development	IEP	17848411
GO:0016604	Component	Nuclear body	IBA	21873635
GO:0016604	Component	Nuclear body	IDA

Other IDs

• MIM: 300120
• HGNC: 2568
• e!Ensembl: ENSG00000013619

Protein

• 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.
• Sequence:

  MDDWKSRLVIKSMLPHFAMVGNRQEPRKLQESGKKPSWMEEEDLSFLYKSSPGRKHQGTV
  KRRQEEDHFQFPDMADGGYPNKIKRPCLEDVTLAMGPGAHPSTACAELQVPPLTINPSPA
  AMGVAGQSLLLENNPMNGNIMGSPFVVPQTTEVGLKGPTVPYYEKINSVPAVDQELQELL
  EELTKIQDPSPNELDLEKILGTKPEEPLVLDHPQATLSTTPKPSVQMSHLESLASSKEFA
  SSCSQVTGMSLQIPSSSTGISYSIPSTSKQIVSPSSSMAQSKSQVQAMLPVALPPLPVPQ
  WHHAHQLKALAASKQGSATKQQGPTPSWSGLPPPGLSPPYRPVPSPHPPPLPLPPPPPPF
  SPQSLMVSCMSSNTLSGSTLRGSPNALLSSMTSSSNAALGPAMPYAPEKLPSPALTQQPQ
  FGPQSSILANLMSSTIKTPQGHLMSALPASNPGPSPPYRPEKLSSPGLPQQSFTPQCSLI
  RSLTPTSNLLSQQQQQQQQQQQANVIFKPISSNSSKTLSMIMQQGMASSSPGATEPFTFG
  NTKPLSHFVSEPGPQKMPSMPTTSRQPSLLHYLQQPTPTQASSATASSTATATLQLQQQQ
  QQQQQQPDHSSFLLQQMMQQPQRFQRSVASDSMPALPRQGCCHLFAWTSAASSVKPQHQH
  GNSFTSRQDPQPGDVSPSNITHVDKACKLGEARHPQVSLGRQPPSCQALGSESFLPGSSF
  AHELARVTSSYSTSEAAPWGSWDPKAWRQVPAPLLPSCDATARGTEIRSYGNDP

• Sequence length: 774

Pathways

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

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Hypospadias, x-linked	Hypospadias 2, X-Linked	rs137852574, rs121909493, rs121909494, rs121909495, rs1135402752, rs143040492	25660412, 17086185

Unknown
Disease name	Disease term	dbSNP ID	References
Blind vagina	Blind vagina
High palate	Byzanthine arch palate
Hypospadias	Hypospadias, penoscrotal, Hypospadias, balanic, Hypospadias		21559465
Myotubular myopathy with abnormal genital development	Myotubular Myopathy with Abnormal Genital Development, X-linked myotubular myopathy-abnormal genitalia syndrome		9169146, 26580071
Penile hypospadias	Penile hypospadias
Penis agenesis	Penis agenesis