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    MAMSTR MEF2 activating motif and SAP domain containing transcriptional regulator [ Homo sapiens (human) ]

    Gene ID: 284358, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MAMSTRprovided by HGNC
    Official Full Name
    MEF2 activating motif and SAP domain containing transcriptional regulatorprovided by HGNC
    Primary source
    HGNC:HGNC:26689
    See related
    Ensembl:ENSG00000176909 MIM:610349; AllianceGenome:HGNC:26689
    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
    MASTR
    Summary
    Predicted to enable transcription coregulator activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within positive regulation of myotube differentiation and positive regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in gall bladder (RPKM 4.3), stomach (RPKM 4.0) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MAMSTR in Genome Data Viewer
    Location:
    19q13.33
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (48705718..48719725, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (51696857..51714142, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (49215982..49222982, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene secretory blood group 1, pseudogene Neighboring gene uncharacterized LOC105372431 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr19:49177831-49178479 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49178480-49179127 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:49185967-49186241 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49198499-49199062 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49199627-49200190 Neighboring gene uncharacterized LOC105447645 Neighboring gene fucosyltransferase 2 (H blood group) Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10899 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49223623-49224568 Neighboring gene uncharacterized LOC124904737 Neighboring gene Ras interacting protein 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49242120-49242659 Neighboring gene CRISPRi-FlowFISH-validated FUT1 regulatory element 2 Neighboring gene CRISPRi-FlowFISH-validated FUT1 regulatory element 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49249661-49250446 Neighboring gene izumo sperm-oocyte fusion 1

    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 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. Coactivation of MEF2 by the SAP domain proteins myocardin and MASTR. Creemers EE, et al. Mol Cell, 2006 Jul 7. PMID 16818234
    2. Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo. Ikram MK, et al. PLoS Genet, 2010 Oct 28. PMID 21060863, Free PMC Article
    3. Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity. Cousminer DL, et al. Hum Mol Genet, 2013 Jul 1. PMID 23449627, Free PMC Article
    4. Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. International Multiple Sclerosis Genetics Consortium, et al. Nature, 2011 Aug 10. PMID 21833088, Free PMC Article
    5. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. Psychiatric GWAS Consortium Bipolar Disorder Working Group. Nat Genet, 2011 Sep 18. PMID 21926972, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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
    Biological, clinical and population relevance of 95 loci for blood lipids.
    EBI GWAS Catalog
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog
    Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.
    EBI GWAS Catalog
    Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
    EBI GWAS Catalog
    Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.
    EBI GWAS Catalog
    Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ36070, MGC117259

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables transcription coregulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in positive regulation of myotube differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    MEF2-activating motif and SAP domain-containing transcriptional regulator
    Names
    MEF2-activating SAP transcriptional regulatory protein
    likely ortholog of MEF2-activating SAP transcriptional regulator

    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_001130915.2 → NP_001124387.1  MEF2-activating motif and SAP domain-containing transcriptional regulator isoform 1

      See identical proteins and their annotated locations for NP_001124387.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant encodes the longer isoform (1).
      Source sequence(s)
      AC008888, AK131427, BC106047, BX280379
      Consensus CDS
      CCDS46137.1
      UniProtKB/Swiss-Prot
      B7ZKX4, Q3KQU9, Q6ZN01, Q8N9Y3
      Related
      ENSP00000324175.5, ENST00000318083.11
      Conserved Domains (1) summary
      pfam02037
      Location:172 → 201
      SAP; SAP domain

    2. NM_001297753.2 → NP_001284682.1  MEF2-activating motif and SAP domain-containing transcriptional regulator isoform 3

      See identical proteins and their annotated locations for NP_001284682.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, has multiple differences in the coding region and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 3, which is shorter than isoform 1.
      Source sequence(s)
      AC008888, BC106047, BM973739, BX280379, BX431574
      Consensus CDS
      CCDS74415.1
      UniProtKB/Swiss-Prot
      Q6ZN01
      Related
      ENSP00000471590.1, ENST00000594582.1

    3. NM_182574.3 → NP_872380.1  MEF2-activating motif and SAP domain-containing transcriptional regulator isoform 2

      See identical proteins and their annotated locations for NP_872380.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (2) has a shorter N-terminus when compared to isoform 1.
      Source sequence(s)
      AC008888, AK093389, AK131427, BC106047, BX280379
      Consensus CDS
      CCDS12730.1
      UniProtKB/Swiss-Prot
      Q6ZN01
      Related
      ENSP00000349192.3, ENST00000356751.8
      Conserved Domains (1) summary
      pfam02037
      Location:69 → 98
      SAP; SAP domain

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      48705718..48719725 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047438640.1 → XP_047294596.1  MEF2-activating motif and SAP domain-containing transcriptional regulator isoform X6

    2. XM_047438643.1 → XP_047294599.1  MEF2-activating motif and SAP domain-containing transcriptional regulator isoform X12

    3. XM_047438641.1 → XP_047294597.1  MEF2-activating motif and SAP domain-containing transcriptional regulator isoform X9

    4. XM_011526808.3 → XP_011525110.1  MEF2-activating motif and SAP domain-containing transcriptional regulator isoform X4

      Conserved Domains (1) summary
      pfam02037
      Location:235 → 264
      SAP; SAP domain

    5. XM_047438642.1 → XP_047294598.1  MEF2-activating motif and SAP domain-containing transcriptional regulator isoform X11

    6. XM_017026644.2 → XP_016882133.1  MEF2-activating motif and SAP domain-containing transcriptional regulator isoform X8

    7. XM_017026643.2 → XP_016882132.1  MEF2-activating motif and SAP domain-containing transcriptional regulator isoform X7

    8. XM_024451461.2 → XP_024307229.1  MEF2-activating motif and SAP domain-containing transcriptional regulator isoform X10

    9. XM_017026641.2 → XP_016882130.1  MEF2-activating motif and SAP domain-containing transcriptional regulator isoform X3

      Related
      ENSP00000469544.2, ENST00000599703.2

    10. XM_017026640.2 → XP_016882129.1  MEF2-activating motif and SAP domain-containing transcriptional regulator isoform X2

    11. XM_011526809.3 → XP_011525111.1  MEF2-activating motif and SAP domain-containing transcriptional regulator isoform X5

      See identical proteins and their annotated locations for XP_011525111.1

      UniProtKB/Swiss-Prot
      Q6ZN01

    12. XM_011526807.3 → XP_011525109.1  MEF2-activating motif and SAP domain-containing transcriptional regulator isoform X1

      See identical proteins and their annotated locations for XP_011525109.1

      UniProtKB/Swiss-Prot
      Q6ZN01
      Conserved Domains (1) summary
      pfam02037
      Location:69 → 98
      SAP; SAP domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      51696857..51714142 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320635.1 → XP_054176610.1  MEF2-activating motif and SAP domain-containing transcriptional regulator isoform X6

    2. XM_054320641.1 → XP_054176616.1  MEF2-activating motif and SAP domain-containing transcriptional regulator isoform X12

    3. XM_054320638.1 → XP_054176613.1  MEF2-activating motif and SAP domain-containing transcriptional regulator isoform X9

    4. XM_054320633.1 → XP_054176608.1  MEF2-activating motif and SAP domain-containing transcriptional regulator isoform X4

    5. XM_054320640.1 → XP_054176615.1  MEF2-activating motif and SAP domain-containing transcriptional regulator isoform X11

    6. XM_054320637.1 → XP_054176612.1  MEF2-activating motif and SAP domain-containing transcriptional regulator isoform X8

    7. XM_054320636.1 → XP_054176611.1  MEF2-activating motif and SAP domain-containing transcriptional regulator isoform X7

    8. XM_054320639.1 → XP_054176614.1  MEF2-activating motif and SAP domain-containing transcriptional regulator isoform X10

    9. XM_054320632.1 → XP_054176607.1  MEF2-activating motif and SAP domain-containing transcriptional regulator isoform X3

    10. XM_054320631.1 → XP_054176606.1  MEF2-activating motif and SAP domain-containing transcriptional regulator isoform X2

    11. XM_054320634.1 → XP_054176609.1  MEF2-activating motif and SAP domain-containing transcriptional regulator isoform X5

    12. XM_054320630.1 → XP_054176605.1  MEF2-activating motif and SAP domain-containing transcriptional regulator isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZN01.1 GenPept UniProtKB/Swiss-Prot:Q6ZN01

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