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

Summary

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 several processes, including chondrocyte differentiation; chondrocyte proliferation; and embryonic limb morphogenesis. Predicted to act upstream of or within positive regulation of chondrocyte differentiation; positive regulation of chondrocyte proliferation; and positive regulation of macromolecule metabolic process. Predicted to be located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in prostate (RPKM 20.1), fat (RPKM 15.3) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p21.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (52833121..52835019, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (52866132..52868037, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (52867137..52869035, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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 EBI GWAS CatalogPubMed
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis identifies 13 new risk loci for schizophrenia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-12546 (e-PCR)
- UniSTS:45992

SHGC-156028 (e-PCR)
- UniSTS:183763

D3S3371 (e-PCR)
- UniSTS:52699

Readthrough STIMATE-MUSTN1

Readthrough gene: STIMATE-MUSTN1, Included gene: STIMATE

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 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 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 nucleus	IEA Inferred from Electronic Annotation 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)

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