ESM1 (endothelial cell specific molecule 1) - Rat Genome Database

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Gene: ESM1 (endothelial cell specific molecule 1) Homo sapiens
Analyze
Symbol: ESM1
Name: endothelial cell specific molecule 1
RGD ID: 737594
HGNC Page HGNC:3466
Description: Enables hepatocyte growth factor receptor binding activity and integrin binding activity. Involved in positive regulation of cell population proliferation; positive regulation of hepatocyte growth factor receptor signaling pathway; and sprouting angiogenesis. Located in extracellular matrix. Is active in collagen-containing extracellular matrix.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: endocan; endothelial cell-specific molecule 1; ESM-1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38554,977,867 - 54,985,593 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl554,977,867 - 55,022,671 (-)EnsemblGRCh38hg38GRCh38
GRCh37554,273,695 - 54,281,421 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36554,309,900 - 54,317,167 (-)NCBINCBI36Build 36hg18NCBI36
Build 34554,309,452 - 54,317,164NCBI
Celera551,226,920 - 51,234,639 (-)NCBICelera
Cytogenetic Map5q11.2NCBI
HuRef551,247,285 - 51,255,005 (-)NCBIHuRef
CHM1_1554,276,642 - 54,284,361 (-)NCBICHM1_1
T2T-CHM13v2.0555,805,520 - 55,813,241 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
(S)-colchicine  (ISO)
1,2-dimethylhydrazine  (ISO)
1-nitropyrene  (EXP)
17beta-estradiol  (EXP,ISO)
2,2',5,5'-tetrachlorobiphenyl  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,4,5,3',4',5'-Hexachlorobiphenyl  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
acetamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP,ISO)
allethrin  (ISO)
alpha-Zearalanol  (ISO)
ammonium chloride  (ISO)
ampicillin  (EXP)
aristolochic acid A  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
Benzo[k]fluoranthene  (ISO)
beta-naphthoflavone  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
carbon nanotube  (EXP,ISO)
CGP 52608  (EXP)
chlorohydrocarbon  (ISO)
chloroprene  (ISO)
cholesterol  (ISO)
chromium(6+)  (EXP)
cisplatin  (EXP)
clofibric acid  (ISO)
cobalt dichloride  (EXP)
copper(II) sulfate  (EXP)
crocidolite asbestos  (ISO)
cyhalothrin  (ISO)
cypermethrin  (ISO)
diallyl trisulfide  (EXP)
dibenz[a,h]anthracene  (ISO)
diquat  (ISO)
doxorubicin  (EXP)
endosulfan  (ISO)
fenvalerate  (ISO)
ferric oxide  (ISO)
formaldehyde  (EXP)
fulvestrant  (EXP)
genistein  (EXP,ISO)
lead diacetate  (ISO)
lidocaine  (ISO)
lipopolysaccharide  (ISO)
manganese atom  (EXP)
manganese(0)  (EXP)
manganese(II) chloride  (EXP)
methylisothiazolinone  (EXP)
methylmercury chloride  (EXP,ISO)
mifepristone  (EXP)
mono(2-ethylhexyl) phthalate  (EXP,ISO)
N-nitrosodiethylamine  (ISO)
nevirapine  (ISO)
ozone  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
PD 0325901  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenformin  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
piroxicam  (EXP)
pyrethrins  (ISO)
quercetin  (EXP)
quinolin-8-ol  (EXP)
rotenone  (ISO)
silicon dioxide  (EXP)
sodium arsenite  (EXP,ISO)
tamoxifen  (ISO)
tert-butyl hydroperoxide  (EXP)
tetrachloro-1,4-benzoquinone  (EXP)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
triptonide  (ISO)
vincaleukoblastine  (ISO)
vincristine  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8702785   PMID:11025405   PMID:11544294   PMID:11590178   PMID:11866539   PMID:12011586   PMID:12477932   PMID:12778364   PMID:15489334   PMID:16764824   PMID:16899604   PMID:17207965  
PMID:17362927   PMID:18592377   PMID:18614759   PMID:18680240   PMID:19458546   PMID:19785952   PMID:20102396   PMID:20237496   PMID:20379614   PMID:20383661   PMID:20515564   PMID:20616313  
PMID:20821239   PMID:21526908   PMID:21873635   PMID:21905955   PMID:22183069   PMID:22353248   PMID:22735811   PMID:22948784   PMID:23243026   PMID:23454598   PMID:24340011   PMID:24402320  
PMID:24446198   PMID:24667918   PMID:24769132   PMID:24871583   PMID:25012244   PMID:25056533   PMID:25132734   PMID:25168956   PMID:25211383   PMID:25390761   PMID:25394955   PMID:25534164  
PMID:25565643   PMID:25575808   PMID:25894539   PMID:25957465   PMID:25969567   PMID:26125749   PMID:26147320   PMID:26200037   PMID:26418319   PMID:26607436   PMID:26614790   PMID:26662185  
PMID:26685180   PMID:26744512   PMID:26748103   PMID:26808694   PMID:26823798   PMID:26924874   PMID:26927690   PMID:26999704   PMID:27010153   PMID:27068509   PMID:27340359   PMID:27470607  
PMID:27474433   PMID:27528791   PMID:27644250   PMID:27734523   PMID:27871471   PMID:27912147   PMID:27993872   PMID:28056805   PMID:28108731   PMID:28318371   PMID:28393589   PMID:28410547  
PMID:28424502   PMID:28427918   PMID:28514746   PMID:28561144   PMID:28614777   PMID:28679609   PMID:28714079   PMID:28922438   PMID:28934365   PMID:29019897   PMID:29057489   PMID:29104463  
PMID:29104483   PMID:29238987   PMID:29287901   PMID:29393258   PMID:29453929   PMID:29476941   PMID:29627158   PMID:29674200   PMID:29742984   PMID:29750963   PMID:29957509   PMID:30039584  
PMID:30144067   PMID:30194153   PMID:30243005   PMID:30318577   PMID:30370871   PMID:30372556   PMID:30431380   PMID:30501553   PMID:30519013   PMID:30527203   PMID:30630336   PMID:30657575  
PMID:30755622   PMID:30816462   PMID:30875331   PMID:31358545   PMID:31429753   PMID:31455321   PMID:31539885   PMID:31634507   PMID:31734364   PMID:31882514   PMID:31927524   PMID:32272492  
PMID:32296183   PMID:32343887   PMID:32441176   PMID:32651845   PMID:32710501   PMID:32814053   PMID:32854332   PMID:32879879   PMID:32996338   PMID:33175267   PMID:33221710   PMID:33266304  
PMID:33319462   PMID:33347625   PMID:33398666   PMID:33650648   PMID:33902352   PMID:33957951   PMID:34151832   PMID:34156688   PMID:34180269   PMID:34592471   PMID:35239873   PMID:35798291  
PMID:35830780   PMID:36102262   PMID:36388167   PMID:36522312   PMID:36680504   PMID:37074500   PMID:37165911   PMID:37175885   PMID:37238720   PMID:37279462   PMID:37394770   PMID:37455528  
PMID:37517242   PMID:37580451   PMID:37596456   PMID:37968862   PMID:38088108   PMID:38474287   PMID:38601985   PMID:38626010   PMID:38720298   PMID:38897128   PMID:38954708   PMID:39238192  


Genomics

Comparative Map Data
ESM1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38554,977,867 - 54,985,593 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl554,977,867 - 55,022,671 (-)EnsemblGRCh38hg38GRCh38
GRCh37554,273,695 - 54,281,421 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36554,309,900 - 54,317,167 (-)NCBINCBI36Build 36hg18NCBI36
Build 34554,309,452 - 54,317,164NCBI
Celera551,226,920 - 51,234,639 (-)NCBICelera
Cytogenetic Map5q11.2NCBI
HuRef551,247,285 - 51,255,005 (-)NCBIHuRef
CHM1_1554,276,642 - 54,284,361 (-)NCBICHM1_1
T2T-CHM13v2.0555,805,520 - 55,813,241 (-)NCBIT2T-CHM13v2.0
Esm1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3913113,346,193 - 113,354,638 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl13113,346,193 - 113,354,632 (+)EnsemblGRCm39 Ensembl
GRCm3813113,209,659 - 113,218,104 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl13113,209,659 - 113,218,098 (+)EnsemblGRCm38mm10GRCm38
MGSCv3713113,999,867 - 114,008,312 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3613114,330,537 - 114,338,982 (+)NCBIMGSCv36mm8
MGSCv3613110,810,260 - 110,818,705 (+)NCBIMGSCv36mm8
Celera13117,529,617 - 117,537,870 (+)NCBICelera
Cytogenetic Map13D2.2NCBI
cM Map1363.93NCBI
Esm1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8246,609,253 - 46,617,991 (+)NCBIGRCr8
mRatBN7.2244,876,067 - 44,884,805 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl244,876,067 - 44,884,804 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx251,980,725 - 51,989,438 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0250,039,080 - 50,047,795 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0244,919,100 - 44,927,807 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0245,104,392 - 45,113,130 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl245,104,305 - 45,113,131 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0264,137,199 - 64,145,937 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4244,626,010 - 44,634,748 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1244,554,242 - 44,562,980 (+)NCBI
Celera240,646,806 - 40,655,544 (+)NCBICelera
Cytogenetic Map2q14NCBI
Esm1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544612,656,797 - 12,665,704 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544612,644,220 - 12,665,351 (+)NCBIChiLan1.0ChiLan1.0
ESM1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2458,954,252 - 58,962,248 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1557,107,906 - 57,115,873 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0559,043,366 - 59,051,332 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1560,665,279 - 60,673,132 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl560,665,279 - 60,673,129 (+)Ensemblpanpan1.1panPan2
ESM1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1460,592,343 - 60,601,899 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl460,592,609 - 60,624,155 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha460,356,504 - 60,366,079 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0461,080,983 - 61,090,554 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl461,081,256 - 61,089,982 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1460,861,044 - 60,870,610 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0460,987,827 - 60,997,398 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0461,505,909 - 61,515,486 (+)NCBIUU_Cfam_GSD_1.0
Esm1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213203,813,902 - 203,820,905 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648012,750,731 - 12,758,286 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648012,750,732 - 12,758,262 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ESM1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1634,184,257 - 34,193,441 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11634,184,255 - 34,193,877 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21636,256,533 - 36,296,805 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ESM1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1451,227,908 - 51,269,280 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl451,227,916 - 51,235,972 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604991,451 - 99,601 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Esm1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247594,334,206 - 4,359,232 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247594,334,532 - 4,343,078 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ESM1
7 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1 copy number loss See cases [RCV000050797] Chr5:50288355..63149770 [GRCh38]
Chr5:49584189..62445597 [GRCh37]
Chr5:49619946..62481353 [NCBI36]
Chr5:5q11.1-12.1
pathogenic
GRCh38/hg38 5q11.1-11.2(chr5:50288355-56717370)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051838]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051838]|See cases [RCV000051838] Chr5:50288355..56717370 [GRCh38]
Chr5:49584189..56013197 [GRCh37]
Chr5:49619946..56048954 [NCBI36]
Chr5:5q11.1-11.2
pathogenic
GRCh38/hg38 5q11.2(chr5:53332485-57152396)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053283]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053283]|See cases [RCV000053283] Chr5:53332485..57152396 [GRCh38]
Chr5:52628315..56448223 [GRCh37]
Chr5:52664072..56483980 [NCBI36]
Chr5:5q11.2
uncertain significance
GRCh38/hg38 5q11.1-11.2(chr5:50462100-55862985)x1 copy number loss See cases [RCV000053451] Chr5:50462100..55862985 [GRCh38]
Chr5:49757934..55158813 [GRCh37]
Chr5:49793691..55194570 [NCBI36]
Chr5:5q11.1-11.2
pathogenic
GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3 copy number gain See cases [RCV000137302] Chr5:35201559..61903141 [GRCh38]
Chr5:35201661..61198968 [GRCh37]
Chr5:35237418..61234725 [NCBI36]
Chr5:5p13.2-q12.1
pathogenic
GRCh38/hg38 5p12-q11.2(chr5:45566861-56506493)x3 copy number gain See cases [RCV000138021] Chr5:45566861..56506493 [GRCh38]
Chr5:45566963..55802320 [GRCh37]
Chr5:45602720..55838077 [NCBI36]
Chr5:5p12-q11.2
uncertain significance
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3
pathogenic
NM_007036.5(ESM1):c.472G>T (p.Asp158Tyr) single nucleotide variant not specified [RCV004315978] Chr5:54979415 [GRCh38]
Chr5:54275243 [GRCh37]
Chr5:5q11.2
uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q11.2(chr5:53784524-54985838) copy number loss Abnormal esophagus morphology [RCV000416715] Chr5:53784524..54985838 [GRCh37]
Chr5:5q11.2
likely benign
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_007036.5(ESM1):c.450G>A (p.Thr150=) single nucleotide variant not provided [RCV000953784] Chr5:54981998 [GRCh38]
Chr5:54981998..54981999 [GRCh38]
Chr5:54277826 [GRCh37]
Chr5:54277826..54277827 [GRCh37]
Chr5:5q11.2
benign
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
NC_000005.9:g.53180658_54552379dup duplication Neurodevelopmental disorder [RCV000787438] Chr5:53180658..54552379 [GRCh37]
Chr5:5q11.2
uncertain significance
NC_000005.9:g.(?_52285299)_(56189507_?)del deletion not provided [RCV003107599] Chr5:52285299..56189507 [GRCh37]
Chr5:5q11.2
pathogenic
NM_007036.5(ESM1):c.472G>A (p.Asp158Asn) single nucleotide variant not specified [RCV004078080] Chr5:54979415 [GRCh38]
Chr5:54275243 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_007036.5(ESM1):c.517G>A (p.Gly173Arg) single nucleotide variant not specified [RCV004081145] Chr5:54979370 [GRCh38]
Chr5:54275198 [GRCh37]
Chr5:5q11.2
likely benign
GRCh37/hg19 5q11.1-11.2(chr5:49430268-57925870)x1 copy number loss not specified [RCV003986571] Chr5:49430268..57925870 [GRCh37]
Chr5:5q11.1-11.2
likely pathogenic
NM_007036.5(ESM1):c.550C>T (p.Arg184Cys) single nucleotide variant not specified [RCV004380871] Chr5:54979337 [GRCh38]
Chr5:54275165 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_007036.5(ESM1):c.50T>A (p.Val17Glu) single nucleotide variant not specified [RCV004618081] Chr5:54985468 [GRCh38]
Chr5:54281296 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_007036.5(ESM1):c.370A>G (p.Arg124Gly) single nucleotide variant not specified [RCV004915262] Chr5:54982078 [GRCh38]
Chr5:54277906 [GRCh37]
Chr5:5q11.2
uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:1120
Count of miRNA genes:603
Interacting mature miRNAs:671
Transcripts:ENST00000381403, ENST00000381405, ENST00000598310, ENST00000601836
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597028128GWAS1124202_Hsquamous cell lung carcinoma, family history of lung cancer QTL GWAS1124202 (human)0.0000001squamous cell lung carcinoma, family history of lung cancer55498199854981999Human

Markers in Region
RH122706  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37554,282,155 - 54,282,453UniSTSGRCh37
Build 36554,317,912 - 54,318,210RGDNCBI36
Celera551,235,380 - 51,235,678RGD
Cytogenetic Map5q11.2UniSTS
HuRef551,255,746 - 51,256,044UniSTS
TNG Radiation Hybrid Map524694.0UniSTS
SHGC-142274  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37554,279,223 - 54,279,515UniSTSGRCh37
Build 36554,314,980 - 54,315,272RGDNCBI36
Celera551,232,448 - 51,232,740RGD
Cytogenetic Map5q11.2UniSTS
HuRef551,252,814 - 51,253,106UniSTS
TNG Radiation Hybrid Map524697.0UniSTS
SHGC-57281  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37554,273,778 - 54,273,944UniSTSGRCh37
Build 36554,309,535 - 54,309,701RGDNCBI36
Celera551,227,003 - 51,227,169RGD
Cytogenetic Map5q11.2UniSTS
HuRef551,247,368 - 51,247,534UniSTS
TNG Radiation Hybrid Map524700.0UniSTS
STS-X89426  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q11.2UniSTS
GeneMap99-GB4 RH Map5289.49UniSTS
STS-X89426  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q11.2UniSTS
GeneMap99-GB4 RH Map5283.4UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1170 2081 2534 2154 3912 1665 2164 1 568 1116 411 1847 5989 5412 22 3008 775 1608 1491 164

Sequence


Ensembl Acc Id: ENST00000381403   ⟹   ENSP00000370810
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl554,978,487 - 54,985,593 (-)Ensembl
Ensembl Acc Id: ENST00000381405   ⟹   ENSP00000370812
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl554,977,867 - 54,985,593 (-)Ensembl
Ensembl Acc Id: ENST00000598310
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl554,979,058 - 55,022,671 (-)Ensembl
Ensembl Acc Id: ENST00000601836   ⟹   ENSP00000471642
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl554,985,249 - 55,022,671 (-)Ensembl
RefSeq Acc Id: NM_001135604   ⟹   NP_001129076
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38554,977,867 - 54,985,593 (-)NCBI
GRCh37554,273,695 - 54,281,414 (-)ENTREZGENE
HuRef551,247,285 - 51,255,005 (-)ENTREZGENE
CHM1_1554,276,642 - 54,284,361 (-)NCBI
T2T-CHM13v2.0555,805,520 - 55,813,241 (-)NCBI
Sequence:
RefSeq Acc Id: NM_007036   ⟹   NP_008967
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38554,977,867 - 54,985,593 (-)NCBI
GRCh37554,273,695 - 54,281,414 (-)ENTREZGENE
Build 36554,309,900 - 54,317,167 (-)NCBI Archive
HuRef551,247,285 - 51,255,005 (-)ENTREZGENE
CHM1_1554,276,642 - 54,284,361 (-)NCBI
T2T-CHM13v2.0555,805,520 - 55,813,241 (-)NCBI
Sequence:
RefSeq Acc Id: NP_001129076   ⟸   NM_001135604
- Peptide Label: isoform b precursor
- UniProtKB: Q9NQ30 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_008967   ⟸   NM_007036
- Peptide Label: isoform a precursor
- UniProtKB: Q3V4E3 (UniProtKB/Swiss-Prot),   Q15330 (UniProtKB/Swiss-Prot),   B2R4G3 (UniProtKB/Swiss-Prot),   Q96ES3 (UniProtKB/Swiss-Prot),   Q9NQ30 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000471642   ⟸   ENST00000601836
Ensembl Acc Id: ENSP00000370812   ⟸   ENST00000381405
Ensembl Acc Id: ENSP00000370810   ⟸   ENST00000381403
Protein Domains
IGFBP N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NQ30-F1-model_v2 AlphaFold Q9NQ30 1-184 view protein structure

Promoters
RGD ID:6869600
Promoter ID:EPDNEW_H7965
Type:initiation region
Name:ESM1_1
Description:endothelial cell specific molecule 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
GRCh38554,985,593 - 54,985,653EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3466 AgrOrtholog
COSMIC ESM1 COSMIC
Ensembl Genes ENSG00000164283 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000381403 ENTREZGENE
  ENST00000381403.4 UniProtKB/Swiss-Prot
  ENST00000381405 ENTREZGENE
  ENST00000381405.5 UniProtKB/Swiss-Prot
Gene3D-CATH 4.10.40.20 UniProtKB/Swiss-Prot
GTEx ENSG00000164283 GTEx
HGNC ID HGNC:3466 ENTREZGENE
Human Proteome Map ESM1 Human Proteome Map
InterPro ESM1 UniProtKB/Swiss-Prot
  Growth_fac_rcpt_cys_sf UniProtKB/Swiss-Prot
  IGFBP-like UniProtKB/Swiss-Prot
KEGG Report hsa:11082 UniProtKB/Swiss-Prot
NCBI Gene 11082 ENTREZGENE
OMIM 601521 OMIM
PANTHER ENDOTHELIAL CELL-SPECIFIC MOLECULE 1 UniProtKB/Swiss-Prot
  PTHR15428 UniProtKB/Swiss-Prot
Pfam IGFBP UniProtKB/Swiss-Prot
PharmGKB PA27883 PharmGKB
PROSITE IGFBP_N_2 UniProtKB/Swiss-Prot
SMART SM00121 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF57184 UniProtKB/Swiss-Prot
UniProt B2R4G3 ENTREZGENE
  ESM1_HUMAN UniProtKB/Swiss-Prot
  M0R154_HUMAN UniProtKB/TrEMBL
  Q15330 ENTREZGENE
  Q3V4E3 ENTREZGENE
  Q96ES3 ENTREZGENE
  Q9NQ30 ENTREZGENE
UniProt Secondary B2R4G3 UniProtKB/Swiss-Prot
  Q15330 UniProtKB/Swiss-Prot
  Q3V4E3 UniProtKB/Swiss-Prot
  Q96ES3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-26 ESM1  endothelial cell specific molecule 1  ESM1  endothelial cell-specific molecule 1  Symbol and/or name change 5135510 APPROVED