MUSTN1 (musculoskeletal, embryonic nuclear protein 1) - Rat Genome Database

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Gene: MUSTN1 (musculoskeletal, embryonic nuclear protein 1) Homo sapiens
Analyze
Symbol: MUSTN1
Name: musculoskeletal, embryonic nuclear protein 1
RGD ID: 1352078
HGNC Page HGNC
Description: Predicted to be involved in positive regulation of chondrocyte differentiation; positive regulation of chondrocyte proliferation; and positive regulation of macromolecule metabolic process. Predicted to localize to nucleus; INTERACTS WITH aflatoxin B1; atrazine; benzo[a]pyrene.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: DKFZp686G21125; musculoskeletal embryonic nuclear protein 1; musculoskeletal temporally activated novel; Mustang
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl352,833,114 - 52,835,019 (-)EnsemblGRCh38hg38GRCh38
GRCh38352,833,121 - 52,835,019 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37352,867,137 - 52,869,035 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36352,842,177 - 52,844,260 (-)NCBINCBI36hg18NCBI36
Celera352,845,956 - 52,848,039 (-)NCBI
Cytogenetic Map3p21.1NCBI
HuRef352,928,926 - 52,931,042 (-)NCBIHuRef
CHM1_1352,819,330 - 52,821,434 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
nucleoplasm  (IEA,ISO)
nucleus  (IEA)

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14718386   PMID:17519359   PMID:21926972   PMID:22087225   PMID:23263486   PMID:23974872   PMID:25056061  


Genomics

Comparative Map Data
MUSTN1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl352,833,114 - 52,835,019 (-)EnsemblGRCh38hg38GRCh38
GRCh38352,833,121 - 52,835,019 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37352,867,137 - 52,869,035 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36352,842,177 - 52,844,260 (-)NCBINCBI36hg18NCBI36
Celera352,845,956 - 52,848,039 (-)NCBI
Cytogenetic Map3p21.1NCBI
HuRef352,928,926 - 52,931,042 (-)NCBIHuRef
CHM1_1352,819,330 - 52,821,434 (-)NCBICHM1_1
Mustn1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391430,601,214 - 30,603,567 (+)NCBIGRCm39mm39
GRCm39 Ensembl1430,601,157 - 30,603,567 (+)Ensembl
GRCm381430,879,257 - 30,881,610 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1430,879,200 - 30,881,610 (+)EnsemblGRCm38mm10GRCm38
MGSCv371431,692,443 - 31,694,796 (+)NCBIGRCm37mm9NCBIm37
MGSCv361429,708,549 - 29,710,617 (+)NCBImm8
Celera1427,136,627 - 27,138,980 (+)NCBICelera
Cytogenetic Map14BNCBI
Mustn1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2166,072,908 - 6,075,158 (+)NCBI
Rnor_6.0 Ensembl166,962,722 - 6,964,989 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0166,962,737 - 6,964,987 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0166,889,473 - 6,891,723 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4166,311,978 - 6,314,228 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1166,311,975 - 6,314,226 (+)NCBI
Celera169,114,915 - 9,117,165 (-)NCBICelera
Cytogenetic Map16p16NCBI
Mustn1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554302,790,090 - 2,793,880 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554302,790,090 - 2,793,880 (-)NCBIChiLan1.0ChiLan1.0
MUSTN1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1354,000,547 - 54,004,099 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl354,000,547 - 54,004,099 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0352,774,843 - 52,778,280 (-)NCBIMhudiblu_PPA_v0panPan3
LOC607080
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Dog10K_Boxer_Tasha2036,976,074 - 36,981,907 (+)NCBI
ROS_Cfam_1.02037,319,303 - 37,350,672 (+)NCBI
UNSW_CanFamBas_1.02037,116,837 - 37,122,681 (+)NCBI
UU_Cfam_GSD_1.02037,394,372 - 37,400,213 (+)NCBI
Mustn1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118170,453,686 - 170,455,950 (-)NCBI
SpeTri2.0NW_0049364733,592,259 - 3,594,717 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MUSTN1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12214,215,968 - 14,219,524 (-)NCBI
Vero_WHO_p1.0NW_023666041152,678,397 - 152,684,347 (+)NCBI
Mustn1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248224,388,562 - 4,395,494 (+)NCBI

Position Markers
SHGC-156028  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37352,869,850 - 52,870,142UniSTSGRCh37
Build 36352,844,890 - 52,845,182RGDNCBI36
Celera352,848,669 - 52,848,961RGD
Cytogenetic Map3p21.1UniSTS
HuRef352,931,657 - 52,931,949UniSTS
TNG Radiation Hybrid Map332946.0UniSTS
WI-12546  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37352,870,775 - 52,870,902UniSTSGRCh37
Build 36352,845,815 - 52,845,942RGDNCBI36
Celera352,849,595 - 52,849,722RGD
Cytogenetic Map3p21.1UniSTS
HuRef352,932,583 - 52,932,710UniSTS
GeneMap99-GB4 RH Map3165.73UniSTS
Whitehead-RH Map3216.2UniSTS
D3S3371  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37352,869,065 - 52,869,192UniSTSGRCh37
Build 36352,844,105 - 52,844,232RGDNCBI36
Celera352,847,884 - 52,848,011RGD
Cytogenetic Map3p21.1UniSTS
HuRef352,930,872 - 52,930,999UniSTS
Whitehead-RH Map3216.2UniSTS
Whitehead-YAC Contig Map3 UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3251
Count of miRNA genes:1112
Interacting mature miRNAs:1382
Transcripts:ENST00000446157, ENST00000468472, ENST00000486659, ENST00000495552
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 414 494 119 1 1 494
Medium 2012 2242 1187 311 935 185 3447 1934 3049 77 884 1230 130 1 1173 2267 1 1
Low 222 304 313 147 455 111 153 102 556 62 300 45 37 30 27 1 1
Below cutoff 120 21 187 136 298 139 203 38 110 171 180 260 6 3

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000446157   ⟹   ENSP00000410910
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl352,833,121 - 52,835,019 (-)Ensembl
RefSeq Acc Id: ENST00000486659   ⟹   ENSP00000419877
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl352,833,114 - 52,834,915 (-)Ensembl
RefSeq Acc Id: NM_205853   ⟹   NP_995325
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38352,833,121 - 52,835,019 (-)NCBI
GRCh37352,867,131 - 52,869,235 (-)ENTREZGENE
Build 36352,842,177 - 52,844,260 (-)NCBI Archive
Celera352,845,956 - 52,848,039 (-)RGD
HuRef352,928,926 - 52,931,042 (-)ENTREZGENE
CHM1_1352,819,330 - 52,821,434 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_995325 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI30551 (Get FASTA)   NCBI Sequence Viewer  
  AAI30553 (Get FASTA)   NCBI Sequence Viewer  
  CAC81756 (Get FASTA)   NCBI Sequence Viewer  
  Q8IVN3 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_995325   ⟸   NM_205853
- Sequence:
RefSeq Acc Id: ENSP00000410910   ⟸   ENST00000446157
RefSeq Acc Id: ENSP00000419877   ⟸   ENST00000486659

Promoters
RGD ID:6864708
Promoter ID:EPDNEW_H5519
Type:multiple initiation site
Name:MUSTN1_1
Description:musculoskeletal, embryonic nuclear protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5520  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38352,835,019 - 52,835,079EPDNEW
RGD ID:6864710
Promoter ID:EPDNEW_H5520
Type:initiation region
Name:MUSTN1_2
Description:musculoskeletal, embryonic nuclear protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5519  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38352,835,215 - 52,835,275EPDNEW
RGD ID:6801185
Promoter ID:HG_KWN:45272
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000317716,   OTTHUMT00000317717,   UC003DGA.2,   UC003DGD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36352,847,621 - 52,848,121 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1 copy number loss See cases [RCV000051511] Chr3:49461000..55314500 [GRCh38]
Chr3:49498433..55348528 [GRCh37]
Chr3:49473437..55323568 [NCBI36]
Chr3:3p21.31-14.3
pathogenic
GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)x1 copy number loss See cases [RCV000143631] Chr3:51394434..55064449 [GRCh38]
Chr3:51431865..55098476 [GRCh37]
Chr3:51406905..55073516 [NCBI36]
Chr3:3p21.2-14.3
likely pathogenic
GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1 copy number loss See cases [RCV000239886] Chr3:52086599..59689209 [GRCh37]
Chr3:3p21.2-14.2
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616) copy number gain not provided [RCV000767704] Chr3:45153770..53878616 [GRCh37]
Chr3:3p21.31-21.1
pathogenic
GRCh37/hg19 3p21.2-21.1(chr3:52195134-52869037)x1 copy number loss not provided [RCV000848455] Chr3:52195134..52869037 [GRCh37]
Chr3:3p21.2-21.1
pathogenic
GRCh37/hg19 3p21.2-21.1(chr3:51247306-53069942)x3 copy number gain not provided [RCV001005434] Chr3:51247306..53069942 [GRCh37]
Chr3:3p21.2-21.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:22144 AgrOrtholog
COSMIC MUSTN1 COSMIC
Ensembl Genes ENSG00000272573 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000410910 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000419877 UniProtKB/TrEMBL
Ensembl Transcript ENST00000446157 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000486659 UniProtKB/TrEMBL
GTEx ENSG00000272573 GTEx
HGNC ID HGNC:22144 ENTREZGENE
Human Proteome Map MUSTN1 Human Proteome Map
InterPro MUSTN1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:389125 UniProtKB/Swiss-Prot
NCBI Gene 389125 ENTREZGENE
OMIM 617195 OMIM
Pfam Mustang UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134991411 PharmGKB
UniProt C9JYJ2_HUMAN UniProtKB/TrEMBL
  MSTN1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE