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

Gene ID: 284358, updated on 5-Mar-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, Apr 2022]
Expression
Broad expression in gall bladder (RPKM 4.3), stomach (RPKM 4.0) and 22 other tissues See more
Orthologs
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Genomic context

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Location:
19q13.33
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (48705718..48719725, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (51696857..51714142, complement)
105.20220307 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

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_2023_10

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

  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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