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

Gene ID: 284358, updated on 23-Nov-2021

Summary

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
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
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

See MAMSTR in Genome Data Viewer
Location:
19q13.33
Exon count:
10
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (48712441..48719898, complement)
105.20201022 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 uncharacterized LOC105447645 Neighboring gene fucosyltransferase 2 Neighboring gene CRISPRi-FlowFISH-validated FUT1 regulatory element Neighboring gene Ras interacting protein 1 Neighboring gene CRISPRi-FlowFISH-validated FUT1 regulatory element Neighboring gene izumo sperm-egg fusion 1

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
Biological, clinical and population relevance of 95 loci for blood lipids.
GeneReviews: Not available
Discovery and refinement of loci associated with lipid levels.
GeneReviews: Not available
Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.
GeneReviews: Not available
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
GeneReviews: Not available
Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.
GeneReviews: Not available
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
PubMed 
Component Evidence Code Pubs
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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_001130915.2NP_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
    Q6ZN01
    Related
    ENSP00000324175.5, ENST00000318083.11
    Conserved Domains (1) summary
    pfam02037
    Location:172201
    SAP; SAP domain
  2. NM_001297753.2NP_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_182574.3NP_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:6998
    SAP; SAP domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    48712441..48719898 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024451463.1XP_024307231.1  MEF2-activating motif and SAP domain-containing transcriptional regulator isoform X5

  2. XM_011526808.2XP_011525110.1  MEF2-activating motif and SAP domain-containing transcriptional regulator isoform X4

    Conserved Domains (1) summary
    pfam02037
    Location:235264
    SAP; SAP domain
  3. XM_017026644.1XP_016882133.1  MEF2-activating motif and SAP domain-containing transcriptional regulator isoform X7

  4. XM_017026643.1XP_016882132.1  MEF2-activating motif and SAP domain-containing transcriptional regulator isoform X6

  5. XM_024451461.1XP_024307229.1  MEF2-activating motif and SAP domain-containing transcriptional regulator isoform X8

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

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

  8. XM_011526807.2XP_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:6998
    SAP; SAP domain
  9. XM_011526809.2XP_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
  10. XM_024451462.1XP_024307230.1  MEF2-activating motif and SAP domain-containing transcriptional regulator isoform X5

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