MESP1 (mesoderm posterior bHLH transcription factor 1) - Rat Genome Database

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Gene: MESP1 (mesoderm posterior bHLH transcription factor 1) Homo sapiens
Analyze
Symbol: MESP1
Name: mesoderm posterior bHLH transcription factor 1
RGD ID: 1603631
HGNC Page HGNC
Description: Exhibits DNA-binding transcription factor activity and transcription regulatory region sequence-specific DNA binding activity. Involved in several processes, including endothelial cell differentiation; heart development; and positive regulation of transcription by RNA polymerase II. Predicted to localize to chromatin and nucleus; INTERACTS WITH 17beta-estradiol; 2,2',4,4',5,5'-hexachlorobiphenyl; 2,2',4,4'-Tetrabromodiphenyl ether.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: bHLHc5; class C basic helix-loop-helix protein 5; mesoderm posterior 1 homolog; mesoderm posterior basic helix-loop-helix transcription factor 1; mesoderm posterior protein 1; MGC10676
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
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 Ensembl1589,748,661 - 89,751,310 (-)EnsemblGRCh38hg38GRCh38
GRCh381589,734,772 - 89,751,309 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371590,293,098 - 90,294,540 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361588,094,110 - 88,095,552 (-)NCBINCBI36hg18NCBI36
Celera1566,695,858 - 66,697,300 (-)NCBI
Cytogenetic Map15q26.1NCBI
HuRef1566,406,054 - 66,407,496 (-)NCBIHuRef
CHM1_11590,133,926 - 90,135,368 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
cardiac atrium formation  (IMP)
cardiac cell fate determination  (ISS)
cardiac muscle cell differentiation  (IMP)
cardiac vascular smooth muscle cell differentiation  (IMP)
cardiac ventricle formation  (IMP)
cardioblast anterior-lateral migration  (ISO,ISS)
cardioblast migration  (ISO)
cardioblast migration to the midline involved in heart field formation  (ISS)
embryonic heart tube morphogenesis  (ISS)
endothelial cell differentiation  (IMP)
gastrulation  (ISO,ISS)
gene expression  (IEA,ISO)
growth involved in heart morphogenesis  (ISS)
heart looping  (ISS)
heart morphogenesis  (IBA,ISO)
lateral mesoderm development  (ISO,ISS)
mesoderm formation  (IBA)
mesodermal cell migration  (IEA,ISO)
negative regulation of endodermal cell fate specification  (ISS)
negative regulation of mesodermal cell fate specification  (ISS)
negative regulation of transcription, DNA-templated  (ISS)
neurogenesis  (IMP)
Notch signaling pathway  (IEA)
positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway  (ISS)
positive regulation of hepatocyte differentiation  (ISS)
positive regulation of Notch signaling pathway  (ISS)
positive regulation of Notch signaling pathway involved in heart induction  (IEA)
positive regulation of striated muscle cell differentiation  (ISS)
positive regulation of transcription by RNA polymerase II  (IDA,ISS)
positive regulation of transcription, DNA-templated  (ISS)
regulation of transcription by RNA polymerase II  (IBA)
secondary heart field specification  (ISS)
signal transduction involved in regulation of gene expression  (IEA,ISO)
sinoatrial node cell differentiation  (IMP)
sinus venosus morphogenesis  (ISS)
somite rostral/caudal axis specification  (IBA)

Cellular Component
chromatin  (ISA)
nucleus  (IBA,IC)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Colon cancer  (IAGP)
References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8787751   PMID:11578861   PMID:12477932   PMID:15342556   PMID:18297060   PMID:19274049   PMID:21873635   PMID:22826236   PMID:24056064   PMID:25187301   PMID:26694203   PMID:28677747  
PMID:30389344   PMID:31761621   PMID:32814053  


Genomics

Comparative Map Data
MESP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1589,748,661 - 89,751,310 (-)EnsemblGRCh38hg38GRCh38
GRCh381589,734,772 - 89,751,309 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371590,293,098 - 90,294,540 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361588,094,110 - 88,095,552 (-)NCBINCBI36hg18NCBI36
Celera1566,695,858 - 66,697,300 (-)NCBI
Cytogenetic Map15q26.1NCBI
HuRef1566,406,054 - 66,407,496 (-)NCBIHuRef
CHM1_11590,133,926 - 90,135,368 (-)NCBICHM1_1
Mesp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39779,441,989 - 79,443,338 (-)NCBIGRCm39mm39
GRCm39 Ensembl779,441,989 - 79,443,536 (-)Ensembl
GRCm38779,792,241 - 79,793,590 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl779,792,241 - 79,793,788 (-)EnsemblGRCm38mm10GRCm38
MGSCv37786,937,127 - 86,938,476 (-)NCBIGRCm37mm9NCBIm37
MGSCv36779,665,760 - 79,667,119 (-)NCBImm8
Celera777,191,445 - 77,192,794 (-)NCBICelera
Cytogenetic Map7D2NCBI
cM Map745.16NCBI
Mesp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21133,738,357 - 133,739,875 (-)NCBI
Rnor_6.0 Ensembl1141,532,390 - 141,533,908 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01141,532,390 - 141,533,908 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01142,493,452 - 142,494,970 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41135,571,777 - 135,573,295 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11135,650,456 - 135,651,437 (-)NCBI
Celera1125,801,663 - 125,803,181 (-)NCBICelera
Cytogenetic Map1q31NCBI
MESP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11587,645,768 - 87,647,210 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1587,645,768 - 87,647,210 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01568,440,626 - 68,441,935 (-)NCBIMhudiblu_PPA_v0panPan3
MESP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1352,738,333 - 52,739,962 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl352,738,366 - 52,739,755 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha355,372,284 - 55,373,854 (-)NCBI
ROS_Cfam_1.0353,155,122 - 53,156,692 (-)NCBI
UMICH_Zoey_3.1352,676,925 - 52,678,493 (-)NCBI
UNSW_CanFamBas_1.0352,886,866 - 52,888,431 (-)NCBI
UU_Cfam_GSD_1.0353,227,220 - 53,228,790 (-)NCBI
Mesp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640130,799,944 - 130,801,262 (+)NCBI
SpeTri2.0NW_00493648315,533,264 - 15,534,576 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MESP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl755,322,010 - 55,325,732 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1755,322,016 - 55,327,600 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2760,211,078 - 60,218,711 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MESP1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1298,286,551 - 8,288,777 (-)NCBI
ChlSab1.1 Ensembl298,286,828 - 8,287,918 (-)Ensembl

Position Markers
RH11209  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371590,291,952 - 90,292,077UniSTSGRCh37
Build 361588,092,956 - 88,093,081RGDNCBI36
Celera1566,694,712 - 66,694,837RGD
Cytogenetic Map15q26.1UniSTS
HuRef1566,404,908 - 66,405,033UniSTS
GeneMap99-GB4 RH Map15320.51UniSTS
NCBI RH Map15692.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:937
Count of miRNA genes:585
Interacting mature miRNAs:650
Transcripts:ENST00000300057, ENST00000559894
Prediction methods:Miranda, Rnahybrid
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 adipose tissue appendage entire extraembryonic component
High
Medium 16 5 4 7 5 3 131 28 274 5 236 48 5 224 19
Low 2136 1194 1535 485 693 334 2817 1974 3328 324 951 1175 159 964 1803 1
Below cutoff 270 1650 175 123 1065 119 1346 190 105 85 252 374 6 16 912 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_018670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC079075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL357533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL357534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL357535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL357570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL357571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP212916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT585238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000300057   ⟹   ENSP00000300057
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1589,748,661 - 89,751,310 (-)Ensembl
RefSeq Acc Id: ENST00000559894
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1589,749,891 - 89,751,137 (-)Ensembl
RefSeq Acc Id: NM_018670   ⟹   NP_061140
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381589,749,867 - 89,751,309 (-)NCBI
GRCh371590,293,098 - 90,294,540 (-)RGD
Build 361588,094,110 - 88,095,552 (-)NCBI Archive
Celera1566,695,858 - 66,697,300 (-)RGD
HuRef1566,406,054 - 66,407,496 (-)RGD
CHM1_11590,133,926 - 90,135,368 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001751350
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381589,743,374 - 89,751,231 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001751351
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381589,743,374 - 89,751,231 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001751352
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381589,734,780 - 89,751,231 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001751353
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381589,734,772 - 89,751,231 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001751354
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381589,748,661 - 89,751,231 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_061140   ⟸   NM_018670
- UniProtKB: Q9BRJ9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000300057   ⟸   ENST00000300057
Protein Domains
bHLH

Promoters
RGD ID:6792448
Promoter ID:HG_KWN:22309
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000313421
Position:
Human AssemblyChrPosition (strand)Source
Build 361588,094,936 - 88,095,436 (-)MPROMDB
RGD ID:7230483
Promoter ID:EPDNEW_H20987
Type:initiation region
Name:MESP1_1
Description:mesoderm posterior bHLH transcription factor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381589,751,249 - 89,751,309EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3 copy number gain See cases [RCV000052354] Chr15:89679237..101978958 [GRCh38]
Chr15:90222468..102519161 [GRCh37]
Chr15:88023472..100336684 [NCBI36]
Chr15:15q26.1-26.3
pathogenic
GRCh38/hg38 15q24.2-26.3(chr15:75307767-101723215)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|See cases [RCV000052346] Chr15:75307767..101723215 [GRCh38]
Chr15:75600108..102263418 [GRCh37]
Chr15:73387161..100080941 [NCBI36]
Chr15:15q24.2-26.3
pathogenic
GRCh38/hg38 15q24.3-26.3(chr15:77543797-101843411)x3 copy number gain See cases [RCV000052347] Chr15:77543797..101843411 [GRCh38]
Chr15:77836139..102383614 [GRCh37]
Chr15:75623194..100201137 [NCBI36]
Chr15:15q24.3-26.3
pathogenic
GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3 copy number gain See cases [RCV000052352] Chr15:84169153..101904929 [GRCh38]
Chr15:84837905..102445132 [GRCh37]
Chr15:82628909..100262655 [NCBI36]
Chr15:15q25.2-26.3
pathogenic
GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3 copy number gain See cases [RCV000135858] Chr15:83711377..101843270 [GRCh38]
Chr15:84380129..102383473 [GRCh37]
Chr15:82171133..100200996 [NCBI36]
Chr15:15q25.2-26.3
pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3 copy number gain See cases [RCV000135568] Chr15:87904735..101843270 [GRCh38]
Chr15:88447966..102383473 [GRCh37]
Chr15:86248970..100200996 [NCBI36]
Chr15:15q25.3-26.3
pathogenic
GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3 copy number gain See cases [RCV000136849] Chr15:82859676..101810992 [GRCh38]
Chr15:83528428..102351195 [GRCh37]
Chr15:81325482..100168718 [NCBI36]
Chr15:15q25.2-26.3
pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4 copy number gain See cases [RCV000137264] Chr15:85826665..101920998 [GRCh38]
Chr15:86369896..102461201 [GRCh37]
Chr15:84170900..100278724 [NCBI36]
Chr15:15q25.3-26.3
pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3 copy number gain See cases [RCV000141899] Chr15:85397539..101888909 [GRCh38]
Chr15:85940770..102429112 [GRCh37]
Chr15:83741774..100246635 [NCBI36]
Chr15:15q25.3-26.3
pathogenic
GRCh38/hg38 15q26.1(chr15:89738724-89788051)x1 copy number loss See cases [RCV000142209] Chr15:89738724..89788051 [GRCh38]
Chr15:90281955..90331282 [GRCh37]
Chr15:88082959..88132286 [NCBI36]
Chr15:15q26.1
uncertain significance
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3
pathogenic
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 copy number gain See cases [RCV000143019] Chr15:72154949..101920998 [GRCh38]
Chr15:72447290..102461201 [GRCh37]
Chr15:70234344..100278724 [NCBI36]
Chr15:15q23-26.3
pathogenic
GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3 copy number gain See cases [RCV000142727] Chr15:88676575..98364743 [GRCh38]
Chr15:89219806..98907972 [GRCh37]
Chr15:87020810..96725495 [NCBI36]
Chr15:15q26.1-26.3
pathogenic
GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3 copy number gain See cases [RCV000511332] Chr15:76061144..102429112 [GRCh37]
Chr15:15q24.2-26.3
pathogenic
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 copy number gain See cases [RCV000240602] Chr15:64637227..102509910 [GRCh37]
Chr15:15q22.31-26.3
pathogenic
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 copy number gain not provided [RCV000415836] Chr15:59297293..102480888 [GRCh37]
Chr15:15q22.1-26.3
likely pathogenic
GRCh37/hg19 15q25.2-26.3(chr15:85089467-102495441)x3 copy number gain See cases [RCV000449119] Chr15:85089467..102495441 [GRCh37]
Chr15:15q25.2-26.3
pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3
pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:89924847-102429112)x3 copy number gain See cases [RCV000445978] Chr15:89924847..102429112 [GRCh37]
Chr15:15q26.1-26.3
pathogenic
GRCh37/hg19 15q25.1-26.3(chr15:80648093-102429112)x3 copy number gain See cases [RCV000445705] Chr15:80648093..102429112 [GRCh37]
Chr15:15q25.1-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q25.3-26.3(chr15:86148286-102511616)x3 copy number gain See cases [RCV000448044] Chr15:86148286..102511616 [GRCh37]
Chr15:15q25.3-26.3
pathogenic
GRCh37/hg19 15q25.3-26.1(chr15:88295992-94215607)x1 copy number loss See cases [RCV000448680] Chr15:88295992..94215607 [GRCh37]
Chr15:15q25.3-26.1
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q25.3-26.3(chr15:86899001-98734014)x3 copy number gain See cases [RCV000511629] Chr15:86899001..98734014 [GRCh37]
Chr15:15q25.3-26.3
likely pathogenic
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3
pathogenic
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3 copy number gain not provided [RCV000683703] Chr15:71329220..102270758 [GRCh37]
Chr15:15q23-26.3
pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:89743929-102429112)x3 copy number gain not provided [RCV000683718] Chr15:89743929..102429112 [GRCh37]
Chr15:15q26.1-26.3
pathogenic
GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3 copy number gain not provided [RCV000683710] Chr15:77479244..102429112 [GRCh37]
Chr15:15q24.3-26.3
pathogenic
GRCh37/hg19 15q25.3-26.3(chr15:88385150-102461162)x3 copy number gain not provided [RCV000738864] Chr15:88385150..102461162 [GRCh37]
Chr15:15q25.3-26.3
pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:90277151-102376761)x3 copy number gain not provided [RCV000751387] Chr15:90277151..102376761 [GRCh37]
Chr15:15q26.1-26.3
pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844) copy number loss not provided [RCV000767759] Chr15:83883823..92165844 [GRCh37]
Chr15:15q25.2-26.1
pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:90288175-102429112)x3 copy number gain not provided [RCV000846885] Chr15:90288175..102429112 [GRCh37]
Chr15:15q26.1-26.3
pathogenic
GRCh37/hg19 15q25.3-26.3(chr15:87189245-102429112)x1 copy number loss not provided [RCV001006718] Chr15:87189245..102429112 [GRCh37]
Chr15:15q25.3-26.3
pathogenic
GRCh37/hg19 15q26.1(chr15:90111672-90671886)x3 copy number gain not provided [RCV001006720] Chr15:90111672..90671886 [GRCh37]
Chr15:15q26.1
uncertain significance
GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)x1 copy number loss See cases [RCV001263026] Chr15:86962053..102531392 [GRCh37]
Chr15:15q25.3-26.3
pathogenic
NC_000015.9:g.(?_32964879)_(91358519_?)dup duplication Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] Chr15:32964879..91358519 [GRCh37]
Chr15:15q13.3-26.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29658 AgrOrtholog
COSMIC MESP1 COSMIC
Ensembl Genes ENSG00000166823 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000300057 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000300057 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 4.10.280.10 UniProtKB/Swiss-Prot
GTEx ENSG00000166823 GTEx
HGNC ID HGNC:29658 ENTREZGENE
Human Proteome Map MESP1 Human Proteome Map
InterPro bHLH_dom UniProtKB/Swiss-Prot
  HLH_DNA-bd_sf UniProtKB/Swiss-Prot
  Mesogenin/MesP UniProtKB/Swiss-Prot
KEGG Report hsa:55897 UniProtKB/Swiss-Prot
NCBI Gene 55897 ENTREZGENE
OMIM 608689 OMIM
PANTHER PTHR20937 UniProtKB/Swiss-Prot
Pfam HLH UniProtKB/Swiss-Prot
PharmGKB PA142671468 PharmGKB
PROSITE BHLH UniProtKB/Swiss-Prot
SMART HLH UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47459 UniProtKB/Swiss-Prot
UniProt MESP1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q9NSF1 UniProtKB/Swiss-Prot
  Q9NSF2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-06-23 MESP1  mesoderm posterior bHLH transcription factor 1    mesoderm posterior basic helix-loop-helix transcription factor 1  Symbol and/or name change 5135510 APPROVED
2014-07-08 MESP1  mesoderm posterior basic helix-loop-helix transcription factor 1    mesoderm posterior 1 homolog (mouse)  Symbol and/or name change 5135510 APPROVED