Property Summary

NCBI Gene PubMed Count 19
PubMed Score 86.12
PubTator Score 1109.79

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (4)

Disease Target Count
X-linked centronuclear myopathy 3
Disease Target Count P-value
tuberculosis 1563 2.0e-09
malignant mesothelioma 3163 8.9e-06
osteosarcoma 7933 2.7e-03
Disease Target Count Z-score Confidence
Akinetic mutism 5 3.119 1.6

Expression

  Differential Expression (3)

Disease log2 FC p
malignant mesothelioma 1.100 8.9e-06
osteosarcoma -1.582 2.7e-03
tuberculosis -3.100 2.0e-09

Gene RIF (15)

PMID Text
26580071 MAMLD1 sequence variations may not suffice to explain the phenotype in carriers and MAMLD1 may also have a role in adult life
25833151 These results imply that the pathogenic events resulting from MAMLD1 mutations include splice errors.
23333304 HIV-1 Vif upregulates the expression of mastermind-like domain containing 1 (MAMLD1) in Vif-expression T cells
23044878 MAMLD1 mutations cause 46,XY disorders of sex development primarily because of compromised testosterone production around critical period for sex development; in addition, SNP in MAMLD1 may constitute a susceptibility factor for hypospadia. [REVIEW]
22934520 The single-nucleotide polymorphisms of MAMLD1 bear no obvious correlation with hypospadias, and MAMLD1 is not a candidate gene in its pathogenesis in the Chinese population.
22479329 Data suggest that MAMLD1 should be routinely sequenced in 46,XY disorders of sex development (DSD) patients with otherwise normal AR, SRD5A2 and NR5A1 genes.
20347055 mutational analysis of the MAMLD1-gene in hypospadias
20347055 Observational study of gene-disease association. (HuGE Navigator)
19339788 MAMLD1 mutations cause hypospadias primarily because of compromised testosterone production around the critical period of sex development, and provide useful information for the molecular network involved in fetal testosterone production.[review]
18635673 CXorf6 mutations are associated with isolated hypospadias of varying severity
18635673 Observational study of gene-disease association. (HuGE Navigator)
18162467 CXorf6 transactivates the Hes3 promoter, augments testosterone production
17086185 identified three different nonsense mutations of CXorf6 in individuals with hypospadias
9169146 The identification and genomic characterization of the F18 (MAMLD1) gene in human
8789451 Deletion of the F18 (MAMLD1) and MTM1 genes in two patients with congenital myopathy and hypospadias

AA Sequence

MDDWKSRLVIKSMLPHFAMVGNRQEPRKLQESGKKPSWMEEEDLSFLYKSSPGRKHQGTVKRRQEEDHFQ      1 - 70
FPDMADGGYPNKIKRPCLEDVTLAMGPGAHPSTACAELQVPPLTINPSPAAMGVAGQSLLLENNPMNGNI     71 - 140
MGSPFVVPQTTEVGLKGPTVPYYEKINSVPAVDQELQELLEELTKIQDPSPNELDLEKILGTKPEEPLVL    141 - 210
DHPQATLSTTPKPSVQMSHLESLASSKEFASSCSQVTGMSLQIPSSSTGISYSIPSTSKQIVSPSSSMAQ    211 - 280
SKSQVQAMLPVALPPLPVPQWHHAHQLKALAASKQGSATKQQGPTPSWSGLPPPGLSPPYRPVPSPHPPP    281 - 350
LPLPPPPPPFSPQSLMVSCMSSNTLSGSTLRGSPNALLSSMTSSSNAALGPAMPYAPEKLPSPALTQQPQ    351 - 420
FGPQSSILANLMSSTIKTPQGHLMSALPASNPGPSPPYRPEKLSSPGLPQQSFTPQCSLIRSLTPTSNLL    421 - 490
SQQQQQQQQQQQANVIFKPISSNSSKTLSMIMQQGMASSSPGATEPFTFGNTKPLSHFVSEPGPQKMPSM    491 - 560
PTTSRQPSLLHYLQQPTPTQASSATASSTATATLQLQQQQQQQQQQPDHSSFLLQQMMQQPQRFQRSVAS    561 - 630
DSMPALPRQGCCHLFAWTSAASSVKPQHQHGNSFTSRQDPQPGDVSPSNITHVDKACKLGEARHPQVSLG    631 - 700
RQPPSCQALGSESFLPGSSFAHELARVTSSYSTSEAAPWGSWDPKAWRQVPAPLLPSCDATARGTEIRSY    701 - 770
GNDP                                                                      771 - 774
//

Text Mined References (23)

PMID Year Title
26580071 2015 Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype.
25833151 2015 Novel Splice Site Mutation in MAMLD1 in a Patient with Hypospadias.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23044878 2012 MAMLD1 and 46,XY disorders of sex development.
22934520 2012 [Single-nucleotide polymorphisms of MAMLD1 and hypospadias in Chinese].
22610502 2012 Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
22479329 2012 Screening of MAMLD1 mutations in 70 children with 46,XY DSD: identification and functional analysis of two new mutations.
20347055 Mutational study of the MAMLD1-gene in hypospadias.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19339788 2009 MAMLD1 (CXorf6): a new gene involved in hypospadias.
18635673 2008 Mutations of CXorf6 are associated with a range of severities of hypospadias.
18162467 2008 Mastermind-like domain-containing 1 (MAMLD1 or CXorf6) transactivates the Hes3 promoter, augments testosterone production, and contains the SF1 target sequence.
17848411 2007 Developmental changes in human fetal testicular cell numbers and messenger ribonucleic acid levels during the second trimester.
17086185 2006 CXorf6 is a causative gene for hypospadias.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15772651 2005 The DNA sequence of the human X chromosome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
9169146 1997 Cloning and characterization of an alternatively spliced gene in proximal Xq28 deleted in two patients with intersexual genitalia and myotubular myopathy.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8789451 1996 Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region.
8640223 1996 A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast.