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MUSTN1 musculoskeletal, embryonic nuclear protein 1 [ Homo sapiens (human) ]

Gene ID: 389125, updated on 2-Nov-2024

Summary

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Official Symbol
MUSTN1provided by HGNC
Official Full Name
musculoskeletal, embryonic nuclear protein 1provided by HGNC
Primary source
HGNC:HGNC:22144
See related
Ensembl:ENSG00000272573 MIM:617195; AllianceGenome:HGNC:22144
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
MUSTANG
Summary
Predicted to be involved in glucose homeostasis and positive regulation of myoblast differentiation. Predicted to act upstream of or within positive regulation of chondrocyte differentiation; positive regulation of chondrocyte proliferation; and positive regulation of macromolecule biosynthetic process. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in prostate (RPKM 20.1), fat (RPKM 15.3) and 23 other tissues See more
Orthologs
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Genomic context

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See MUSTN1 in Genome Data Viewer
Location:
3p21.1
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (52833121..52835019, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (52866132..52868037, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (52867137..52869035, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124906240 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52853641-52854629 Neighboring gene inter-alpha-trypsin inhibitor heavy chain 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:52858275-52858432 Neighboring gene STIMATE-MUSTN1 readthrough Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52861432-52862040 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52862041-52862648 Neighboring gene ITIH4 antisense RNA 1 Neighboring gene inter-alpha-trypsin inhibitor heavy chain 4 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_70612 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52873819-52874320 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:52878501-52879001 Neighboring gene STIM activating enhancer Neighboring gene microRNA 8064 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:52906559-52906829 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14454 Neighboring gene Scm like with four mbt domains 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_70661 Neighboring gene Sharpr-MPRA regulatory region 7399 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:53032540-53033040 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:53033923-53034166 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19949 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:53064883-53065417 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_70686 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14455 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14456 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14457

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CSRP3, MUSTN1, SIX1, and FBXO32 expression changes in response to lengthening and shortening contractions in human muscle
    Title: Gene expression responses over 24 h to lengthening and shortening contractions in human muscle: major changes in CSRP3, MUSTN1, SIX1, and FBXO32.
Submit: New GeneRIF Correction

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 insights from 108 schizophrenia-associated genetic loci.
EBI GWAS Catalog
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
EBI GWAS Catalog
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
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 Variation Viewer (GRCh37.p13)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Readthrough STIMATE-MUSTN1

Readthrough gene: STIMATE-MUSTN1, Included gene: STIMATE

Potential readthrough

Included gene: ITIH4

Homology

Clone Names

  • DKFZp686G21125

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in chondrocyte differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in chondrocyte proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in glucose homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in muscle organ development IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of chondrocyte differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of chondrocyte proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of gene expression IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of myoblast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of proteoglycan biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in tissue regeneration IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
musculoskeletal embryonic nuclear protein 1
Names
musculoskeletal temporally activated novel

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_205853.4 → NP_995325.4  musculoskeletal embryonic nuclear protein 1

    Status: VALIDATED

    Source sequence(s)
    AC099667
    Consensus CDS
    CCDS46846.1
    UniProtKB/Swiss-Prot
    Q8IVN3
    UniProtKB/TrEMBL
    C9JYJ2
    Related
    ENSP00000410910.2, ENST00000446157.3
    Conserved Domains (1) summary
    pfam15682
    Location:9 → 81
    Mustang; Musculoskeletal, temporally activated-embryonic nuclear protein 1

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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    52833121..52835019 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    52866132..52868037 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IVN3.2 GenPept UniProtKB/Swiss-Prot:Q8IVN3

Gene LinkOut

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

Chemical Information
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Research Materials
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