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    MAML3 mastermind like transcriptional coactivator 3 [ Homo sapiens (human) ]

    Gene ID: 55534, updated on 17-Jun-2024

    Summary

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    Official Symbol
    MAML3provided by HGNC
    Official Full Name
    mastermind like transcriptional coactivator 3provided by HGNC
    Primary source
    HGNC:HGNC:16272
    See related
    Ensembl:ENSG00000196782 MIM:608991; AllianceGenome:HGNC:16272
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GDN; MAM2; CAGH3; ERDA3; MAM-2; TNRC3; mam-3
    Summary
    Enables transcription coactivator activity. Involved in Notch signaling pathway and positive regulation of transcription by RNA polymerase II. Located in nuclear speck. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in ovary (RPKM 4.8), endometrium (RPKM 4.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MAML3 in Genome Data Viewer
    Location:
    4q31.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (139716753..140154184, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (143036385..143473944, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (140637907..141075338, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21929 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21930 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:140632274-140633473 Neighboring gene RN7SK pseudogene 237 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15707 Neighboring gene microsomal glutathione S-transferase 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:140661600-140662100 Neighboring gene uncharacterized LOC124900781 Neighboring gene H3 histone pseudogene 16 Neighboring gene uncharacterized LOC124900782 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:140736907-140737476 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:140737477-140738044 Neighboring gene RN7SK pseudogene 253 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:140746169-140746710 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:140746711-140747251 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:140753881-140754399 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:140796336-140797059 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21931 Neighboring gene Sharpr-MPRA regulatory region 6454 Neighboring gene uncharacterized LOC105377452 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:140884299-140884498 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21932 Neighboring gene uncharacterized LOC124900783 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:140969917-140970453 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:140970454-140970989 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr4:140999743-141000242 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:141013378-141014229 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21933 Neighboring gene uncharacterized LOC101927516 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:141071212-141072056 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:141072057-141072899 Neighboring gene Sharpr-MPRA regulatory region 8632 Neighboring gene uncharacterized LOC124900784 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15708 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:141187913-141189112 Neighboring gene uncharacterized LOC124900785 Neighboring gene SCOC antisense RNA 1 Neighboring gene short coiled-coil protein

    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. MAML3 Contributes to Induction of Malignant Phenotype of Gallbladder Cancer Through Morphogenesis Signalling Under Hypoxia. Na L, et al. Anticancer Res, 2023 Jul. PMID 37351966
    2. Mastermind Like Transcriptional Coactivator 3 (MAML3) Drives Neuroendocrine Tumor Progression. Alzofon N, et al. Mol Cancer Res, 2021 Sep. PMID 33986121, Free PMC Article
    3. Mastermind-Like 3 Controls Proliferation and Differentiation in Neuroblastoma. Heynen GJ, et al. Mol Cancer Res, 2016 May. PMID 26785999
    4. RBPJ and MAML3: Potential Therapeutic Targets for Small Cell Lung Cancer. Onishi H, et al. Anticancer Res, 2018 Aug. PMID 30061220
    5. PTTG1IP and MAML3, novel genomewide association study genes for severity of hyperresponsiveness in adult asthma. Nieuwenhuis MA, et al. Allergy, 2017 May. PMID 27709636

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MAML3 Contributes to Induction of Malignant Phenotype of Gallbladder Cancer Through Morphogenesis Signalling Under Hypoxia.
      Title: MAML3 Contributes to Induction of Malignant Phenotype of Gallbladder Cancer Through Morphogenesis Signalling Under Hypoxia.
    2. Mastermind Like Transcriptional Coactivator 3 (MAML3) Drives Neuroendocrine Tumor Progression.
      Title: Mastermind Like Transcriptional Coactivator 3 (MAML3) Drives Neuroendocrine Tumor Progression.
    3. RBPJ and MAML3 could be new therapeutic targets for SCLC.
      Title: RBPJ and MAML3: Potential Therapeutic Targets for Small Cell Lung Cancer.
    4. PTTG1IP and MAML3 are associated with BHR severity in adult asthma. The relevance of these genes is supported by the eQTL analyses and co-expression of PTTG1lP with vimentin and E-cadherin1, and MAML3 with MAML2.
      Title: PTTG1IP and MAML3, novel genomewide association study genes for severity of hyperresponsiveness in adult asthma.
    5. These findings indicate that the miR-2392-MAML3/WHSC1-Slug/Twist1 regulatory axis plays a critical role in GC metastasis.
      Title: MiR-2392 suppresses metastasis and epithelial-mesenchymal transition by targeting MAML3 and WHSC1 in gastric cancer.
    6. Results show that overexpression of MAML3 confers resistance to retinoic acid in multiple neuroblastoma cell lines.
      Title: Mastermind-Like 3 Controls Proliferation and Differentiation in Neuroblastoma.
    7. These results suggest that PSK suppresses Hedgehog signaling through down-regulation of MAML3 and RBPJ transcription under hypoxia, inhibiting the induction of a malignant phenotype in pancreatic cancer. Our results may lead to development of new treatments for refractory pancreatic cancer using PSK as a Hedgehog inhibitor
      Title: Protein-bound Polysaccharide-K Inhibits Hedgehog Signaling Through Down-regulation of MAML3 and RBPJ Transcription Under Hypoxia, Suppressing the Malignant Phenotype in Pancreatic Cancer.
    8. The present study further expands the genetic spectrum of small blue round cell tumors, with 2 novel fusions, BCOR-MAML3 and ZC3H7B-BCOR, identified
      Title: Novel BCOR-MAML3 and ZC3H7B-BCOR Gene Fusions in Undifferentiated Small Blue Round Cell Sarcomas.
    9. Suggest that hypoxia promotes SMO transcription through upregulation of MAML3 and RBPJ to induce proliferation, invasiveness and tumorigenesis in pancreatic cancer.
      Title: Hypoxia but not normoxia promotes Smoothened transcription through upregulation of RBPJ and Mastermind-like 3 in pancreatic cancer.
    10. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    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

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies two risk loci for congenital heart malformations in Han Chinese populations.
    EBI GWAS Catalog
    Dissecting the genetics of chronic mucus hypersecretion in smokers with and without COPD.
    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)

    Genotypes

    Pathways from PubChem

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    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

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription coactivator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transcription coactivator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Notch signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of transcription of Notch receptor target IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    mastermind-like protein 3
    Names
    CAG repeat containing (glia-derived nexin I alpha)
    expanded repeat domain, CAG/CTG 3
    polyglutamine rich
    trinucleotide repeat containing 3

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_018717.5 → NP_061187.3  mastermind-like protein 3

      Status: VALIDATED

      Source sequence(s)
      AC097464, AC108053, AC131182
      Consensus CDS
      CCDS54805.1
      UniProtKB/Swiss-Prot
      B2RNU9, B3KVV7, E7EVW8, Q96JK9
      Related
      ENSP00000421180.1, ENST00000509479.6
      Conserved Domains (2) summary
      PRK12323
      Location:372 → 466
      PRK12323; DNA polymerase III subunit gamma/tau
      pfam09596
      Location:68 → 125
      MamL-1; MamL-1 domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      139716753..140154184 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047415929.1 → XP_047271885.1  mastermind-like protein 3 isoform X1

    2. XM_047415930.1 → XP_047271886.1  mastermind-like protein 3 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      143036385..143473944 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350447.1 → XP_054206422.1  mastermind-like protein 3 isoform X1

    2. XM_054350448.1 → XP_054206423.1  mastermind-like protein 3 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96JK9.4 GenPept UniProtKB/Swiss-Prot:Q96JK9

    Gene LinkOut

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

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