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MYOCD myocardin [ Homo sapiens (human) ]

Gene ID: 93649, updated on 26-Jul-2021

Summary

Official Symbol
MYOCDprovided by HGNC
Official Full Name
myocardinprovided by HGNC
Primary source
HGNC:HGNC:16067
See related
Ensembl:ENSG00000141052 MIM:606127
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
MGBL; MYCD
Summary
This gene encodes a nuclear protein, which is expressed in heart, aorta, and in smooth muscle cell-containing tissues. It functions as a transcriptional co-activator of serum response factor (SRF) and modulates expression of cardiac and smooth muscle-specific SRF-target genes, and thus may play a crucial role in cardiogenesis and differentiation of the smooth muscle cell lineage. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
Expression
Broad expression in esophagus (RPKM 7.3), endometrium (RPKM 5.9) and 15 other tissues See more
Orthologs
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Genomic context

See MYOCD in Genome Data Viewer
Location:
17p12
Exon count:
15
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (12665890..12768949)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (12569207..12672266)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene mitogen-activated protein kinase kinase 4 Neighboring gene dynein light chain Tctex-type 1 pseudogene Neighboring gene long intergenic non-protein coding RNA 670 Neighboring gene uncharacterized LOC105371540 Neighboring gene MYOCD antisense RNA 1 Neighboring gene ARHGAP44 and MYOCD antisense RNA 1 Neighboring gene Rho GTPase activating protein 44 Neighboring gene microRNA 1269b Neighboring gene elaC ribonuclease Z 2

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.
GeneReviews: Not available
Megabladder, congenital
MedGen: C5231472 OMIM: 618719 GeneReviews: Not available
not available

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat Microarray analysis indicates HIV-1 Tat-induced upregulation of myocardin (MYOCD) in primary human brain microvascular endothelial cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables R-SMAD binding IEA
Inferred from Electronic Annotation
more info
 
enables RNA polymerase II-specific DNA-binding transcription factor binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables histone acetyltransferase binding IEA
Inferred from Electronic Annotation
more info
 
enables histone deacetylase binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables transcription coactivator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables transcription coactivator activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in cardiac muscle cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cardiac muscle cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cardiac ventricle development IEA
Inferred from Electronic Annotation
more info
 
involved_in cardiocyte differentiation NAS
Non-traceable Author Statement
more info
PubMed 
involved_in cellular component maintenance IEA
Inferred from Electronic Annotation
more info
 
involved_in digestive tract development IEA
Inferred from Electronic Annotation
more info
 
involved_in ductus arteriosus closure IEA
Inferred from Electronic Annotation
more info
 
involved_in lung alveolus development IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of amyloid-beta clearance IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of cardiac muscle cell apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of cell adhesion molecule production IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of cell population proliferation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of cyclin-dependent protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of myotube differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of platelet-derived growth factor receptor-beta signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of skeletal muscle cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of vascular associated smooth muscle cell migration IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of vascular associated smooth muscle cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of DNA binding IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of cardiac muscle cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of cardiac vascular smooth muscle cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of cell population proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of production of miRNAs involved in gene silencing by miRNA IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of smooth muscle cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of smooth muscle contraction IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
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 from RNA polymerase II promoter involved in myocardial precursor cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transforming growth factor beta receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of cell growth by extracellular stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of histone acetylation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of myoblast differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of phenotypic switching IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of smooth muscle cell differentiation TAS
Traceable Author Statement
more info
PubMed 
involved_in response to hypoxia IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in smooth muscle cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in smooth muscle cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in urinary bladder development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in uterus development IEA
Inferred from Electronic Annotation
more info
 
involved_in vascular associated smooth muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in vasculogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in ventricular cardiac muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in chromatin IEA
Inferred from Electronic Annotation
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

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.

Genomic

  1. NG_012972.1 RefSeqGene

    Range
    5001..108060
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001146312.3NP_001139784.1  myocardin isoform 1

    See identical proteins and their annotated locations for NP_001139784.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC005358, AK292885
    Consensus CDS
    CCDS54091.1
    UniProtKB/Swiss-Prot
    Q8IZQ8
    Related
    ENSP00000401678.1, ENST00000425538.6
    Conserved Domains (2) summary
    smart00707
    Location:106131
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02037
    Location:371404
    SAP; SAP domain
  2. NM_001378306.1NP_001365235.1  myocardin isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC005358
    Conserved Domains (2) summary
    smart00513
    Location:292323
    SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation
    smart00707
    Location:2752
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
  3. NM_153604.4NP_705832.1  myocardin isoform 2

    See identical proteins and their annotated locations for NP_705832.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1, resulting in a shorter isoform (2) that lacks a 48 aa segment, compared to isoform 1.
    Source sequence(s)
    AC005358, AF532596, BQ000229, DA650534
    Consensus CDS
    CCDS11163.1
    UniProtKB/Swiss-Prot
    Q8IZQ8
    Related
    ENSP00000341835.4, ENST00000343344.8
    Conserved Domains (2) summary
    smart00707
    Location:106131
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02037
    Location:371404
    SAP; SAP domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    12665890..12768949
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005256863.1XP_005256920.1  myocardin isoform X2

    Conserved Domains (2) summary
    smart00707
    Location:106131
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02037
    Location:371404
    SAP; SAP domain
  2. XM_017025342.1XP_016880831.1  myocardin isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001146313.1: Suppressed sequence

    Description
    NM_001146313.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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