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    MAMLD1 mastermind like domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 10046, updated on 27-Nov-2024

    Summary

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    Official Symbol
    MAMLD1provided by HGNC
    Official Full Name
    mastermind like domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:2568
    See related
    Ensembl:ENSG00000013619 MIM:300120; AllianceGenome:HGNC:2568
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CG1; F18; HYSP2; CXorf6
    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. [provided by RefSeq, Apr 2010]
    Expression
    Broad expression in testis (RPKM 8.2), ovary (RPKM 6.7) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MAMLD1 in Genome Data Viewer
    Location:
    Xq28
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (150361572..150514173)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (148629198..148781835)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (149529839..149682443)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:149406763-149407264 Neighboring gene microRNA 2114 Neighboring gene X-ray repair cross complementing 6 pseudogene 2 Neighboring gene uncharacterized LOC124905223 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:149733744-149734666 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:149734667-149735588 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21050 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30021 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30022 Neighboring gene myotubularin 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21051 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21052 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30024 Neighboring gene myotubularin related protein 1 Neighboring gene cytochrome P450 family 2 subfamily C member 64, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome. Aloui C, et al. J Med Genet, 2020 May. PMID 31924698
    2. Novel Splice Site Mutation in MAMLD1 in a Patient with Hypospadias. Igarashi M, et al. Sex Dev, 2015. PMID 25833151
    3. Mutations of CXorf6 are associated with a range of severities of hypospadias. Kalfa N, et al. Eur J Endocrinol, 2008 Oct. PMID 18635673
    4. Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype. Camats N, et al. PLoS One, 2015. PMID 26580071, Free PMC Article
    5. Polymorphism of 3' UTR of MAMLD1 gene is also associated with increased risk of isolated hypospadias in Indian children: a preliminary report. Ratan SK, et al. Pediatr Surg Int, 2016 May. PMID 26815876

    See all (38) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Pathogenic variations in MAML2 and MAMLD1 contribute to congenital hypothyroidism due to dyshormonogenesis by regulating the Notch signalling pathway.
      Title: Pathogenic variations in MAML2 and MAMLD1 contribute to congenital hypothyroidism due to dyshormonogenesis by regulating the Notch signalling pathway.
    2. MAMLD1 and Differences/Disorders of Sex Development: An Update.
      Title: MAMLD1 and Differences/Disorders of Sex Development: An Update.
    3. The genomic profiling and MAMLD1 expression in human and canines with Cushing's disease.
      Title: The genomic profiling and MAMLD1 expression in human and canines with Cushing's disease.
    4. [Advance in research on the role of MAMLD1 gene in disorders of sex development].
      Title: [Advance in research on the role of MAMLD1 gene in disorders of sex development].
    5. Clinical and molecular spectrum of 46,XY disorders of sex development that harbour MAMLD1 variations: case series and review of literature.
      Title: Clinical and molecular spectrum of 46,XY disorders of sex development that harbour MAMLD1 variations: case series and review of literature.
    6. Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome.
      Title: Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome.
    7. Disorders of Sex Development in Individuals Harbouring MAMLD1 Variants: WES and Interactome Evidence of Oligogenic Inheritance.
      Title: Disorders of Sex Development in Individuals Harbouring MAMLD1 Variants: WES and Interactome Evidence of Oligogenic Inheritance.
    8. Attenuation of MAMLD1 Expression Suppresses the Growth and Migratory Properties of Gonadotroph Pituitary Adenomas.
      Title: Attenuation of MAMLD1 Expression Suppresses the Growth and Migratory Properties of Gonadotroph Pituitary Adenomas.
    9. Nuclear localization of Yes associated protein 1 (YAP1)-mastermind like domain containing 1 (MAMLD1) protein is mediated by MAMLD1 and independent of YAP1-Ser127 phosphorylation.
      Title: YAP1 subgroup supratentorial ependymoma requires TEAD and nuclear factor I-mediated transcriptional programmes for tumorigenesis.
    10. Study provides evidence that MAMLD1 transcription is up-regulated in patients with 46,XX testicular and ovotesticular disorders of sex development.
      Title: NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.
    Submit: New GeneRIF Correction See all GeneRIFs (25)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Hypospadias 2, X-linked
    MedGen: C2677879 OMIM: 300758 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Vif vif HIV-1 Vif upregulates the expression of mastermind-like domain containing 1 (MAMLD1) in Vif-expression T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in male gonad development IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nuclear body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    mastermind-like domain-containing protein 1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_017093.2 RefSeqGene

      Range
      87157..155881
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001177465.3 → NP_001170936.1  mastermind-like domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001170936.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AK094563, AK294478, AW594465, DC320452
      Consensus CDS
      CCDS55526.1
      UniProtKB/Swiss-Prot
      Q13495
      Related
      ENSP00000414517.2, ENST00000432680.7

    2. NM_001177466.3 → NP_001170937.1  mastermind-like domain-containing protein 1 isoform 3

      See identical proteins and their annotated locations for NP_001170937.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has a shorter 5' UTR and multiple differences in the coding region, compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform 3) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC136957, AC235697, AC235953
      Consensus CDS
      CCDS55525.1
      UniProtKB/TrEMBL
      A0A804HJ96
      Related
      ENSP00000397438.2, ENST00000426613.5

    3. NM_001400512.1 → NP_001387441.1  mastermind-like domain-containing protein 1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC136957, AC235697, AC235953
      Consensus CDS
      CCDS94683.1
      UniProtKB/TrEMBL
      A0A804HKM8

    4. NM_001400513.1 → NP_001387442.1  mastermind-like domain-containing protein 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC136957, AC235697, AC235953
      Consensus CDS
      CCDS94682.1
      UniProtKB/TrEMBL
      A0A8C8KAR0
      Related
      ENSP00000262858.6, ENST00000262858.8

    5. NM_001400514.1 → NP_001387443.1  mastermind-like domain-containing protein 1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC136957, AC235697, AC235953
      Consensus CDS
      CCDS94684.1
      UniProtKB/TrEMBL
      A0A804HJD4
      Related
      ENSP00000507454.1, ENST00000683453.1

    6. NM_001400515.1 → NP_001387444.1  mastermind-like domain-containing protein 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: Variants 2 and 7 encode the same isoform (2).
      Source sequence(s)
      AC136957, AC235697, AC235953
      Consensus CDS
      CCDS14693.2
      UniProtKB/Swiss-Prot
      B2RCQ4, B4DG93, B9EGA5, Q13495
      Related
      ENSP00000506890.1, ENST00000682253.1

    7. NM_005491.5 → NP_005482.2  mastermind-like domain-containing protein 1 isoform 2

      See identical proteins and their annotated locations for NP_005482.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has a shorter 5' UTR and has multiple differences in the coding region, compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform 2) has a distinct C-terminus and is shorter than isoform 1. Variants 2 and 7 encode the same isoform (2).
      Source sequence(s)
      AC136957, AC235697, AC235953
      Consensus CDS
      CCDS14693.2
      UniProtKB/Swiss-Prot
      B2RCQ4, B4DG93, B9EGA5, Q13495
      UniProtKB/TrEMBL
      A0A804HJ96
      Related
      ENSP00000359428.2, ENST00000370401.7

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      150361572..150514173
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047441709.1 → XP_047297665.1  mastermind-like domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A804HKM8

    2. XM_024452317.2 → XP_024308085.1  mastermind-like domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A804HKM8
      Related
      ENSP00000507991.1, ENST00000682016.1

    3. XM_011531092.4 → XP_011529394.1  mastermind-like domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011529394.1

      UniProtKB/TrEMBL
      A0A804HKM8

    4. XM_047441710.1 → XP_047297666.1  mastermind-like domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A804HKM8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      148629198..148781835
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326280.1 → XP_054182255.1  mastermind-like domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A804HKM8

    2. XM_054326279.1 → XP_054182254.1  mastermind-like domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A804HKM8

    3. XM_054326278.1 → XP_054182253.1  mastermind-like domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A804HKM8
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13495.2 GenPept UniProtKB/Swiss-Prot:Q13495

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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