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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MAMLD1 Gene

protein-coding GIFtS: 51
GCID: GC0XP149530

mastermind-like domain containing 1

(Previous name: chromosome X open reading frame 6 )
(Previous symbol: CXorf6)

Explore 4 diseases affiliated with
MAMLD1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Mastermind-Like Domain Containing 1¹ ²		HYSP2² ⁵
CXorf6¹ ² ³ ⁵		Chromosome X Open Reading Frame 6¹
F18¹ ² ³ ⁵		Mastermind-Like Domain-Containing Protein 1²
CG1¹ ² ³		Protein CG1³

External Ids:	HGNC: 2568¹	Entrez Gene: 10046²	Ensembl: ENSG00000013619⁷	OMIM: 300120⁵	UniProtKB: Q13495³

Export aliases for MAMLD1 gene to outside databases

Previous GC identifers: GC0XP149282 GC0XP149364 GC0XP138395

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MAMLD1:

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)

UniProtKB/Swiss-Prot: MAMD1_HUMAN, Q13495

Function: Transactivates the HES3 promoter independently of NOTCH proteins. HES3 is a non-canonical NOTCH target gene

which lacks binding sites for RBPJ

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000023.10 NC_018934.1 NT_167198.1

Regulatory elements:

Search SABiosciences Regulatory transcription factor binding sites for MAMLD1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: MAMLD1 promoter sequence

Search SABiosciences Chromatin IP Primers for MAMLD1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MAMLD1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq28 Ensembl cytogenetic band: Xq28 HGNC cytogenetic band: Xq28

MAMLD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MAMLD1 gene location

GeneLoc information about chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XP149530: view genomic region (about GC identifiers)

Start:	149,529,689 bp from pter	End:	149,682,448 bp from pter
Size:	152,760 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MAMD1_HUMAN, Q13495 (See protein sequence)

Recommended Name: Mastermind-like domain-containing protein 1

Size: 774 amino acids; 83231 Da

Subcellular location: Nucleus. Note=Punctate nuclear localization

Sequence caution: Sequence=AAC50551.1; Type=Frameshift; Positions=59; Sequence=BAG37651.1; Type=Erroneous initiation;

Secondary accessions: B2RCQ4 B4DG93 B9EGA5

Alternative splicing: 3 isoforms: Q13495-1 Q13495-3 Q13495-4

Explore the universe of human proteins at neXtProt for MAMLD1: NX_Q13495

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q13495

MAMLD1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001170936.1 NP_001170937.1 NP_005482.2

ENSEMBL proteins:

ENSP00000359428 ENSP00000414517 ENSP00000351765 ENSP00000262858 ENSP00000397438

ENSP00000389106

Reactome Protein details: Q13495
Human Recombinant Protein Products:

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	Uscn Proteins for MAMLD1

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005575	cellular_component	ND	--
GO:0005634	nucleus	IEA	--

MAMLD1 for ontologies About GeneDecksing

MAMLD1 Antibody Products:

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	Uscn ELISAs and CLIAs for MAMLD1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

MAMLD1 for domains About GeneDecksing

1 InterPro domain/family:

IPR026131 MAMLD1

Graphical View of Domain Structure for InterPro Entry Q13495

ProtoNet protein and cluster: Q13495

UniProtKB/Swiss-Prot: MAMD1_HUMAN, Q13495

Similarity: Belongs to the mastermind family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: MAMD1_HUMAN, Q13495

Function: Transactivates the HES3 promoter independently of NOTCH proteins. HES3 is a non-canonical NOTCH target gene

which lacks binding sites for RBPJ

Induction: By NR5A1

miRNA Products:		OriGene 3'-UTR Clone: MAMLD1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MAMLD1
		8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate MAMLD1 (see all 11):
		hsa-miR-3671 hsa-miR-448 hsa-miR-607 hsa-miR-1226 hsa-miR-520d-5p hsa-miR-513a-5p hsa-miR-4282 hsa-miR-33a*

		SwitchGear 3'UTR luciferase reporter plasmid: MAMLD1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MAMLD1 (see all 4) OriGene shRNA RFP: MAMLD1 OriGene siRNA: MAMLD1
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Gene Editing
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for MAMLD1
		Search LifeMap BioReagents cell lines for MAMLD1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAMLD1

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003674	molecular_function	ND	--

MAMLD1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for MAMLD1:

Increased cell death HMECs cel

Animal Models:
Mouse knock-out Mamld1^tm1Tsga for MAMLD1
1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Mamld1):

reproductive system

MAMLD1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Signaling by NOTCH1 t(7 9)(NOTCH1:M1580_K2555) Translocation Mutant

8/11 pathways (see all 11)
Signaling by NOTCH1 PEST Domain Mutants in Cancer	1.00	Signaling by NOTCH1 t(7 9)(NOTCH1:M1580_K2555) Translocation Mutant	1.00
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer	1.00	Constitutive Signaling by NOTCH1 PEST Domain Mutants	0.79
Signaling by NOTCH1 in Cancer	1.00	Signaling by NOTCH	0.77
Signaling by NOTCH1 HD Domain Mutants in Cancer	1.00	Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants	0.71

Generic Transcription Pathway

Generic Transcription Pathway

1.00

Gene Expression

0.46

Mature NOTCH heterodimer traffics to the plasma membrane

Notch-HLH transcription pathway

0.31

NICD traffics to nucleus

0.31

Disease

Disease

1.00

Signaling by GPCR

Signal Transduction

0.56

Pathway sources
See GeneCards unified pathways
Show all pathways

5/17 Reactome Pathways for MAMLD1 (see all 17)

	Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
	NOTCH1 Intracellular Domain Regulates Transcription
	FBXW7 Mutants and NOTCH1 in Cancer
	Notch-HLH transcription pathway
	Signaling by NOTCH1 HD Domain Mutants in Cancer

MAMLD1 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for MAMLD1

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006351	transcription, DNA-dependent	IEA	--
GO:0006355	regulation of transcription, DNA-dependent	IEA	--
GO:0008584	male gonad development	IEP	17848411

MAMLD1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MAMLD1
Search CenterWatch for drugs/clinical trials and news about MAMLD1 / MAMD1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for MAMLD1 gene (3 alternative transcripts):

NM_001177465.1 NM_001177466.1 NM_005491.3

Unigene Cluster for MAMLD1:

Mastermind-like domain containing 1

Hs.20136 [show with all ESTs]

Unigene Representative Sequence: BX537560

8 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000468306 ENST00000370401(uc011mxu.2) ENST00000432680 ENST00000358892

ENST00000464149 ENST00000262858(uc011mxt.1 uc004fee.2) ENST00000426613(uc011mxv.2 uc011mxw.2)

ENST00000455522

miRNA Products:		OriGene 3'-UTR Clone: MAMLD1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MAMLD1
		8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate MAMLD1 (see all 11):
		hsa-miR-3671 hsa-miR-448 hsa-miR-607 hsa-miR-1226 hsa-miR-520d-5p hsa-miR-513a-5p hsa-miR-4282 hsa-miR-33a*

		SwitchGear 3'UTR luciferase reporter plasmid: MAMLD1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MAMLD1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MAMLD1

Additional cDNA sequence:

AK094563.1 AK125184.1 AK294478.1 AK297504.1 AK302612.1 AK315217.1 BC136324.1 BX537560.1

U46023.1

8 DOTS entries:

DT.313156 DT.97793859 DT.121285560 DT.121285578 DT.121285576 DT.121285577 DT.91728196 DT.95359009

24/58 AceView cDNA sequences (see all 58):

BE904543 AI078048 AA602881 AA702838 BM546484 AI052796 AA416975 AW005188

BM069476 AA398654 BU687638 AW452261 BG769583 BF940737 W60292 BX537560

BM665575 AA292836 NM_005491 AK125184 AW292065 AI825576 CA406737 BM711760

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

MAMLD1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TATATTTAAG

About this image

MAMLD1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

PureStem™ progenitor U31 (Embryonic Progenitor Cell)

Line H7 (WA07) (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See MAMLD1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MAMLD1

SOURCE GeneReport for Unigene cluster: Hs.20136

UniProtKB/Swiss-Prot: MAMD1_HUMAN, Q13495

Tissue specificity: Expressed in fetal brain, fetal ovary and fetal testis. Expressed in adult brain, ovary, skin,

testis, uterus. Highly expressed in skeletal muscle

SABiosciences Custom PCR Arrays for MAMLD1

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAMLD1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for MAMLD1 gene from 2/8 species (see all 8) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	MAMLD1¹	mastermind-like domain containing 1	59.73(n) 48.03(a)		422389 XM_003641088.1 XP_003641136.1
lizard (Anolis carolinensis)	Reptilia	MAMLD1⁶	--	41(a)	1 ↔ 1	GL343310.1(862392-863972)

ENSEMBL Gene Tree for MAMLD1 (if available)
TreeFam Gene Tree for MAMLD1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for MAMLD1 gene

MAML3² MAML1² MAML2²

MAMLD1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs11094630^1,2	C,F,A,H,	--	149529634(+)	`CTCTTT/CCTCCA`	1	--	us2k¹		7		NS EA NA CSA	424
rs191023523^1,2		--	149529866(+)	`TACTCA/CGAGGT`	1	--	us2k¹		0	--	--	--	--
rs182471700^1,2		--	149530637(+)	`CTGGGC/GATCTG`	1	--	us2k¹		0	--	--	--	--
rs186753228^1,2		--	149530699(+)	`ATTTCA/CTCCTC`	1	--	us2k¹		0	--	--	--	--
rs192621860^1,2		--	149530750(+)	`TCATCA/GTGTCT`	1	--	us2k¹		0	--	--	--	--
rs742581^1,2	C,F,A,H,	--	149530826(-)	`GAGACT/CGTACG`	1	--	us2k¹		18		NS EA NA CSA	2039
rs183300201^1,2		--	149531095(+)	`GCCTAA/GGCAAG`	1	--	us2k¹		0	--	--	--	--
rs188653713^1,2		--	149531181(+)	`CGCCCC/TTCCGA`	1	--	us2k¹		0	--	--	--	--
rs72612713^1,2	C,	--	149531210(+)	`GGTTCA/GAGCCG`	1	--	us2k¹		0	--	--	--	--
rs113715314^1,2	C,	--	149531306(+)	`CGGGCT/GGCCGC`	1	--	us2k¹		1		CSA	1

HapMap Linkage Disequilibrium report for MAMLD1 (149529689 - 149682448 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for MAMLD1
2 Inversions: 37359 37358
Human Gene Mutation Database (HGMD): MAMLD1

Locus Specific Mutation Databases (LSDB): MAMLD1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MAMLD1

DNA2.0 Custom Variant and Variant Library Synthesis for MAMLD1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

MAMLD1 for disorders           About GeneDecksing

OMIM gene information: 300120
OMIM disorders: 300758
UniProtKB/Swiss-Prot: MAMD1_HUMAN, Q13495

Defects in MAMLD1 are a cause of X-linked hypospadias type 2 (HYSP2) [MIM:300758]. Hypospadias is a common

malformation in which the urethra opens on the ventral side of the penis. It is considered a complex disorder with

both genetic and environmental factors involved in the pathogenesis. Hypospadias can occur alone on an apparently

multifactorial basis or as part of syndromes

4 diseases for MAMLD1: About MalaCards

hypospadias 2, x-linked hypospadias spermatic cord torsion myopathy

1 disease from the University of Copenhagen DISEASES database for MAMLD1:

Hypospadias

Human Genome Epidemiology (HuGE) Navigator: MAMLD1 (2 documents)

Export disorders for MAMLD1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for MAMLD1 gene, integrated from 9 sources (see all 19):
(articles sorted by number of sources associating them with MAMLD1)

Utopia: connect your pdf to the dynamic
world of online information

Mastermind-like domain-containing 1 (MAMLD1 or CXorf6) transactivates the Hes3 promoter, augments testosterone production, and contains the SF1 target sequence. (PubMed id 18162467)^{1, 2, 3} Fukami M.... Ogata T. (2008)
CXorf6 is a causative gene for hypospadias. (PubMed id 17086185)^{1, 2, 3} Fukami M....Ogata T. (2006)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Cloning and characterization of an alternatively spliced gene in proximal Xq28 deleted in two patients with intersexual genitalia and myotubular myopathy. (PubMed id 9169146)^{1, 3} Laporte J....Dahl N. (1997)
A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. (PubMed id 8640223)^{1, 2} Laporte J.... Dahl N. (1996)
Screening of MAMLD1 mutations in 70 children with 46,X Y DSD: identification and functional analysis of two new mutations. (PubMed id 22479329)¹ Kalfa N....Sultan C. (2012)
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. (PubMed id 22610502)¹ Kennedy R.B....Poland G.A. (2012)
Mutational study of the MAMLD1-gene in hypospadias. (PubMed id 20347055)¹ Chen Y....NordenskjAPld A. (2010)
Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)² Olsen J.V....Mann M. (2010)
MAMLD1 (CXorf6): a new gene involved in hypospadias. (PubMed id 19339788)¹ Ogata T....Fukami M. (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 10046	HGNC: 2568	AceView: CXorf6	Ensembl:ENSG00000013619	euGenes: HUgn10046
ECgene: MAMLD1	H-InvDB: MAMLD1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for MAMLD1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for MAMLD1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for MAMLD1 gene:
Search GeneIP for patents involving MAMLD1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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MAMLD1 Gene

mastermind-like domain containing 1

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MAMLD1 Gene

mastermind-like domain containing 1

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Intellectual Property
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