EPS15 (epidermal growth factor receptor pathway substrate 15) - Rat Genome Database

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Gene: EPS15 (epidermal growth factor receptor pathway substrate 15) Homo sapiens
Analyze
Symbol: EPS15
Name: epidermal growth factor receptor pathway substrate 15
RGD ID: 1313642
HGNC Page HGNC
Description: Enables polyubiquitin modification-dependent protein binding activity. Involved in Golgi to endosome transport; clathrin coat assembly; and receptor-mediated endocytosis of virus by host cell. Located in several cellular components, including aggresome; cytosol; and plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AF-1P; AF1P; ALL1 fused gene from chromosome 1; epidermal growth factor receptor substrate 15; MLLT5
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: EPS15P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl151,354,263 - 51,519,266 (-)EnsemblGRCh38hg38GRCh38
GRCh38151,354,263 - 51,519,275 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37151,819,935 - 51,984,938 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36151,592,523 - 51,757,583 (-)NCBINCBI36hg18NCBI36
Build 34151,531,955 - 51,697,016NCBI
Celera150,106,464 - 50,271,514 (-)NCBI
Cytogenetic Map1p32.3NCBI
HuRef149,937,536 - 50,064,736 (-)NCBIHuRef
CHM1_1151,937,379 - 52,102,411 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:7797522   PMID:8134107   PMID:8183552   PMID:8619474   PMID:8662627   PMID:8662907   PMID:8889548   PMID:9049247   PMID:9110174   PMID:9182572   PMID:9303539   PMID:9407139  
PMID:9428629   PMID:9490719   PMID:9721102   PMID:9723620   PMID:9762922   PMID:10064583   PMID:10383425   PMID:10393179   PMID:10514494   PMID:10567358   PMID:10613896   PMID:10757979  
PMID:10764745   PMID:10777571   PMID:10791968   PMID:10809762   PMID:10922467   PMID:10953014   PMID:11062555   PMID:11381094   PMID:11483962   PMID:11723124   PMID:11872741   PMID:11919637  
PMID:12072436   PMID:12218189   PMID:12364336   PMID:12429846   PMID:12477932   PMID:12538641   PMID:12551915   PMID:12750381   PMID:12807910   PMID:12957285   PMID:14671106   PMID:14702039  
PMID:14755250   PMID:15231748   PMID:15465819   PMID:15701692   PMID:15758025   PMID:15767409   PMID:15772161   PMID:15809337   PMID:15951569   PMID:15962011   PMID:16036216   PMID:16159959  
PMID:16325581   PMID:16344560   PMID:16429130   PMID:16497223   PMID:16710414   PMID:16771824   PMID:16862145   PMID:16885233   PMID:16964243   PMID:17013377   PMID:17081983   PMID:17082820  
PMID:17474147   PMID:17588522   PMID:17626015   PMID:17626244   PMID:18029348   PMID:18199683   PMID:18200045   PMID:18362181   PMID:18375383   PMID:18395097   PMID:18524853   PMID:19013454  
PMID:19109251   PMID:19322201   PMID:19380743   PMID:19478092   PMID:19738201   PMID:19835873   PMID:19875440   PMID:19880507   PMID:19946888   PMID:20106972   PMID:20202662   PMID:20360068  
PMID:20448150   PMID:20634891   PMID:21047970   PMID:21115825   PMID:21226813   PMID:21554242   PMID:21762413   PMID:21832070   PMID:21873635   PMID:22036096   PMID:22558309   PMID:22581003  
PMID:22623428   PMID:22648170   PMID:22863883   PMID:23211419   PMID:23222715   PMID:23874206   PMID:24173214   PMID:24189400   PMID:24269888   PMID:24377927   PMID:24768539   PMID:25070368  
PMID:25260758   PMID:25468996   PMID:25496667   PMID:25659891   PMID:25921289   PMID:26186194   PMID:26289382   PMID:26344197   PMID:26496610   PMID:26514267   PMID:26638075   PMID:26673895  
PMID:26748853   PMID:26822536   PMID:26950368   PMID:27008177   PMID:27237791   PMID:27368102   PMID:28082312   PMID:28089446   PMID:28190767   PMID:28215104   PMID:28228550   PMID:28514442  
PMID:28611215   PMID:29395067   PMID:29467281   PMID:31024071   PMID:31340145   PMID:31462741   PMID:31527615   PMID:31586073   PMID:31699778   PMID:31723608   PMID:31732153   PMID:31980649  
PMID:32203420   PMID:32377695   PMID:32513696   PMID:33957083   PMID:34079125  


Genomics

Comparative Map Data
EPS15
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl151,354,263 - 51,519,266 (-)EnsemblGRCh38hg38GRCh38
GRCh38151,354,263 - 51,519,275 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37151,819,935 - 51,984,938 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36151,592,523 - 51,757,583 (-)NCBINCBI36hg18NCBI36
Build 34151,531,955 - 51,697,016NCBI
Celera150,106,464 - 50,271,514 (-)NCBI
Cytogenetic Map1p32.3NCBI
HuRef149,937,536 - 50,064,736 (-)NCBIHuRef
CHM1_1151,937,379 - 52,102,411 (-)NCBICHM1_1
Eps15
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394109,137,372 - 109,245,014 (+)NCBIGRCm39mm39
GRCm39 Ensembl4109,137,465 - 109,245,014 (+)Ensembl
GRCm384109,280,175 - 109,387,817 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4109,280,268 - 109,387,817 (+)EnsemblGRCm38mm10GRCm38
MGSCv374108,952,880 - 109,060,422 (+)NCBIGRCm37mm9NCBIm37
MGSCv364108,778,235 - 108,883,626 (+)NCBImm8
Celera4107,626,627 - 107,727,939 (+)NCBICelera
Cytogenetic Map4C7NCBI
Eps15
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.25124,045,865 - 124,146,221 (+)NCBImRatBN7.2
Rnor_6.0 Ensembl5128,923,934 - 129,022,054 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.05128,923,809 - 129,022,268 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.05132,763,094 - 132,861,698 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45130,639,805 - 130,739,014 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.15130,645,030 - 130,744,240 (+)NCBI
Celera5122,775,022 - 122,873,141 (+)NCBICelera
Cytogenetic Map5q34-q35NCBI
Eps15
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554647,569,566 - 7,688,098 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554647,569,570 - 7,688,098 (+)NCBIChiLan1.0ChiLan1.0
EPS15
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1152,097,387 - 52,223,533 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl152,097,387 - 52,223,533 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0150,598,692 - 50,763,585 (-)NCBIMhudiblu_PPA_v0panPan3
EPS15
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1159,834,285 - 9,895,755 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl159,787,260 - 9,893,540 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha159,904,456 - 10,047,227 (+)NCBI
ROS_Cfam_1.0159,877,844 - 10,020,742 (+)NCBI
UMICH_Zoey_3.1159,689,665 - 9,832,450 (+)NCBI
UNSW_CanFamBas_1.0159,778,543 - 9,921,371 (+)NCBI
UU_Cfam_GSD_1.0159,794,994 - 9,938,012 (+)NCBI
Eps15
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505865,928,976 - 66,023,422 (-)NCBI
SpeTri2.0NW_0049365229,438,929 - 9,486,781 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EPS15
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6160,653,890 - 160,801,288 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16160,653,818 - 160,792,516 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.26148,356,480 - 148,494,390 (+)NCBISscrofa10.2Sscrofa10.2susScr3
EPS15
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12081,439,017 - 81,599,626 (+)NCBI
ChlSab1.1 Ensembl2081,439,025 - 81,602,710 (+)Ensembl
Vero_WHO_p1.0NW_02366603335,638,865 - 35,801,433 (-)NCBI
Eps15
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248591,584,024 - 1,754,395 (+)NCBI

Position Markers
SHGC-37192  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37151,872,342 - 51,872,478UniSTSGRCh37
Build 36151,644,930 - 51,645,066RGDNCBI36
Celera150,158,871 - 50,159,007RGD
Cytogenetic Map1p32UniSTS
HuRef149,990,100 - 49,990,236UniSTS
TNG Radiation Hybrid Map127911.0UniSTS
Stanford-G3 RH Map12552.0UniSTS
NCBI RH Map1321.7UniSTS
GeneMap99-G3 RH Map12558.0UniSTS
SHGC-74820  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37151,978,730 - 51,978,855UniSTSGRCh37
Build 36151,751,318 - 51,751,443RGDNCBI36
Celera150,265,249 - 50,265,374RGD
Cytogenetic Map1p32UniSTS
HuRef150,096,192 - 50,096,317UniSTS
TNG Radiation Hybrid Map127969.0UniSTS
GeneMap99-GB4 RH Map1151.08UniSTS
SHGC-74807  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37151,820,014 - 51,820,163UniSTSGRCh37
Build 36151,592,602 - 51,592,751RGDNCBI36
Celera150,106,543 - 50,106,692RGD
Cytogenetic Map1p32UniSTS
HuRef149,937,615 - 49,937,764UniSTS
TNG Radiation Hybrid Map127872.0UniSTS
GeneMap99-GB4 RH Map1150.04UniSTS
Whitehead-RH Map1171.6UniSTS
SHGC-74762  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37151,923,223 - 51,923,455UniSTSGRCh37
Build 36151,695,811 - 51,696,043RGDNCBI36
Celera150,209,748 - 50,209,980RGD
Cytogenetic Map1p32UniSTS
HuRef150,040,971 - 50,041,203UniSTS
TNG Radiation Hybrid Map127945.0UniSTS
GeneMap99-GB4 RH Map1151.08UniSTS
AL009788  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37151,960,479 - 51,960,604UniSTSGRCh37
Build 36151,733,067 - 51,733,192RGDNCBI36
Celera150,247,002 - 50,247,127RGD
Cytogenetic Map1p32UniSTS
HuRef150,078,235 - 50,078,360UniSTS
RH80074  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37151,843,935 - 51,844,031UniSTSGRCh37
Build 36151,616,523 - 51,616,619RGDNCBI36
Celera150,130,464 - 50,130,560RGD
Cytogenetic Map1p32UniSTS
HuRef149,961,640 - 49,961,736UniSTS
AL033736  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37151,910,560 - 51,910,681UniSTSGRCh37
Build 36151,683,148 - 51,683,269RGDNCBI36
Celera150,197,085 - 50,197,206RGD
Cytogenetic Map1p32UniSTS
HuRef150,028,313 - 50,028,434UniSTS
SHGC-111272  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37151,933,989 - 51,934,205UniSTSGRCh37
Build 36151,706,577 - 51,706,793RGDNCBI36
Celera150,220,514 - 50,220,730RGD
Cytogenetic Map1p32UniSTS
HuRef150,051,737 - 50,051,953UniSTS
TNG Radiation Hybrid Map127949.0UniSTS
RH70977  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37151,821,049 - 51,821,197UniSTSGRCh37
Build 36151,593,637 - 51,593,785RGDNCBI36
Celera150,107,578 - 50,107,726RGD
Cytogenetic Map1p32UniSTS
HuRef149,938,650 - 49,938,798UniSTS
GeneMap99-GB4 RH Map1150.17UniSTS
SHGC-74806  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37151,821,889 - 51,822,155UniSTSGRCh37
Build 36151,594,477 - 51,594,743RGDNCBI36
Celera150,108,418 - 50,108,684RGD
Cytogenetic Map1p32UniSTS
HuRef149,939,490 - 49,939,756UniSTS
TNG Radiation Hybrid Map127872.0UniSTS
GeneMap99-GB4 RH Map1149.83UniSTS
Whitehead-RH Map1171.0UniSTS
SHGC-155448  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37151,844,285 - 51,844,583UniSTSGRCh37
Build 36151,616,873 - 51,617,171RGDNCBI36
Celera150,130,814 - 50,131,112RGD
Cytogenetic Map1p32UniSTS
HuRef149,961,990 - 49,962,288UniSTS
TNG Radiation Hybrid Map127893.0UniSTS
G07235  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37151,822,044 - 51,822,162UniSTSGRCh37
Build 36151,594,632 - 51,594,750RGDNCBI36
Celera150,108,573 - 50,108,691RGD
Cytogenetic Map1p32UniSTS
HuRef149,939,645 - 49,939,763UniSTS
SHGC-74809  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37151,844,171 - 51,844,293UniSTSGRCh37
Build 36151,616,759 - 51,616,881RGDNCBI36
Celera150,130,700 - 50,130,822RGD
Cytogenetic Map1p32UniSTS
HuRef149,961,876 - 49,961,998UniSTS
TNG Radiation Hybrid Map127893.0UniSTS
GeneMap99-GB4 RH Map1150.17UniSTS
A006V07  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37151,923,246 - 51,923,376UniSTSGRCh37
Build 36151,695,834 - 51,695,964RGDNCBI36
Celera150,209,771 - 50,209,901RGD
Cytogenetic Map1p32UniSTS
HuRef150,040,994 - 50,041,124UniSTS
GeneMap99-GB4 RH Map1143.87UniSTS
D1S3566  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37151,819,965 - 51,820,096UniSTSGRCh37
Build 36151,592,553 - 51,592,684RGDNCBI36
Celera150,106,494 - 50,106,625RGD
Cytogenetic Map1p32UniSTS
HuRef149,937,566 - 49,937,697UniSTS
GeneMap99-GB4 RH Map1149.93UniSTS
SHGC-74808  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37151,916,461 - 51,916,651UniSTSGRCh37
Build 36151,689,049 - 51,689,239RGDNCBI36
Celera150,202,986 - 50,203,176RGD
Cytogenetic Map1p32UniSTS
HuRef150,034,214 - 50,034,404UniSTS
TNG Radiation Hybrid Map127941.0UniSTS
GeneMap99-GB4 RH Map1150.14UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2760
Count of miRNA genes:1028
Interacting mature miRNAs:1212
Transcripts:ENST00000371727, ENST00000371730, ENST00000371733, ENST00000396122, ENST00000464478, ENST00000465467, ENST00000471391, ENST00000478657, ENST00000486505, ENST00000493793
Prediction methods:Microtar, 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
Medium 2393 2498 1518 421 1693 263 4345 1993 3660 368 1434 1606 171 1202 2780 4 1
Low 46 493 208 203 258 202 11 204 74 51 26 7 4 1 2 8 2 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001159969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005270618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA789139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC104170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF052132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF331760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK090936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK129853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL671986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW949896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC054006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM681433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD657119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA801048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ367924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB342945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB711068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U07707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z29064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z29070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000371727
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl151,457,536 - 51,519,245 (-)Ensembl
RefSeq Acc Id: ENST00000371730   ⟹   ENSP00000360795
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl151,354,263 - 51,519,241 (-)Ensembl
RefSeq Acc Id: ENST00000371733   ⟹   ENSP00000360798
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl151,354,263 - 51,519,266 (-)Ensembl
RefSeq Acc Id: ENST00000464478
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl151,458,396 - 51,465,326 (-)Ensembl
RefSeq Acc Id: ENST00000465467   ⟹   ENSP00000474739
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl151,461,123 - 51,519,227 (-)Ensembl
RefSeq Acc Id: ENST00000471391
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl151,460,944 - 51,519,254 (-)Ensembl
RefSeq Acc Id: ENST00000478657
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl151,394,419 - 51,401,199 (-)Ensembl
RefSeq Acc Id: ENST00000486505
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl151,394,212 - 51,403,451 (-)Ensembl
RefSeq Acc Id: ENST00000493793
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl151,403,429 - 51,422,104 (-)Ensembl
RefSeq Acc Id: NM_001159969   ⟹   NP_001153441
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38151,354,263 - 51,422,095 (-)NCBI
GRCh37151,819,935 - 51,985,026 (-)NCBI
HuRef149,937,536 - 50,064,736 (-)ENTREZGENE
CHM1_1151,937,379 - 52,005,216 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001981   ⟹   NP_001972
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38151,354,263 - 51,519,266 (-)NCBI
GRCh37151,819,935 - 51,985,026 (-)NCBI
Build 36151,592,523 - 51,757,583 (-)NCBI Archive
HuRef149,937,536 - 50,064,736 (-)ENTREZGENE
CHM1_1151,937,379 - 52,102,411 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005270618   ⟹   XP_005270675
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38151,354,408 - 51,519,275 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000615   ⟹   XP_016856104
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38151,354,263 - 51,519,275 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000616   ⟹   XP_016856105
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38151,354,263 - 51,519,275 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000617   ⟹   XP_016856106
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38151,354,263 - 51,519,275 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000618   ⟹   XP_016856107
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38151,354,263 - 51,519,275 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000619   ⟹   XP_016856108
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38151,354,408 - 51,519,239 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000620   ⟹   XP_016856109
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38151,354,408 - 51,519,234 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001972   ⟸   NM_001981
- Peptide Label: isoform A
- UniProtKB: P42566 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001153441   ⟸   NM_001159969
- Peptide Label: isoform B
- UniProtKB: P42566 (UniProtKB/Swiss-Prot),   B7Z240 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005270675   ⟸   XM_005270618
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016856107   ⟸   XM_017000618
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016856106   ⟸   XM_017000617
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016856105   ⟸   XM_017000616
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016856104   ⟸   XM_017000615
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016856109   ⟸   XM_017000620
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016856108   ⟸   XM_017000619
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: ENSP00000360795   ⟸   ENST00000371730
RefSeq Acc Id: ENSP00000360798   ⟸   ENST00000371733
RefSeq Acc Id: ENSP00000474739   ⟸   ENST00000465467
Protein Domains
EF-hand   EH   UIM

Promoters
RGD ID:6855520
Promoter ID:EPDNEW_H925
Type:initiation region
Name:EPS15_2
Description:epidermal growth factor receptor pathway substrate 15
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H928  EPDNEW_H926  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38151,519,257 - 51,519,317EPDNEW
RGD ID:6855556
Promoter ID:EPDNEW_H926
Type:initiation region
Name:EPS15_1
Description:epidermal growth factor receptor pathway substrate 15
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H925  EPDNEW_H928  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38151,519,266 - 51,519,326EPDNEW
RGD ID:6855526
Promoter ID:EPDNEW_H928
Type:initiation region
Name:EPS15_3
Description:epidermal growth factor receptor pathway substrate 15
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H925  EPDNEW_H926  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38151,519,367 - 51,519,427EPDNEW
RGD ID:6785514
Promoter ID:HG_KWN:2707
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat
Transcripts:OTTHUMT00000022425
Position:
Human AssemblyChrPosition (strand)Source
Build 36151,703,041 - 51,703,541 (-)MPROMDB
RGD ID:6785518
Promoter ID:HG_KWN:2710
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000371727,   OTTHUMT00000022422,   OTTHUMT00000022426,   OTTHUMT00000022427,   UC001CSR.1,   UC009VYZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36151,757,219 - 51,757,719 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p32.3-31.3(chr1:50222546-61618373)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051819]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051819]|See cases [RCV000051819] Chr1:50222546..61618373 [GRCh38]
Chr1:50688218..62084045 [GRCh37]
Chr1:50460805..61856633 [NCBI36]
Chr1:1p32.3-31.3
pathogenic
GRCh38/hg38 1p33-32.3(chr1:49807460-51412851)x3 copy number gain See cases [RCV000141757] Chr1:49807460..51412851 [GRCh38]
Chr1:50273132..51878523 [GRCh37]
Chr1:50045719..51651111 [NCBI36]
Chr1:1p33-32.3
uncertain significance
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
GRCh37/hg19 1p32.3(chr1:51729573-55164001)x1 copy number loss See cases [RCV000447334] Chr1:51729573..55164001 [GRCh37]
Chr1:1p32.3
pathogenic
GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)x1 copy number loss See cases [RCV000448358] Chr1:45303358..52157856 [GRCh37]
Chr1:1p34.1-32.3
likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1
uncertain significance
GRCh37/hg19 1p33-32.3(chr1:47272184-52505405)x1 copy number loss not provided [RCV001005086] Chr1:47272184..52505405 [GRCh37]
Chr1:1p33-32.3
pathogenic
GRCh37/hg19 1p32.3-32.2(chr1:51941877-56688514) copy number loss Abnormality of the kidney [RCV001352641] Chr1:51941877..56688514 [GRCh37]
Chr1:1p32.3-32.2
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3419 AgrOrtholog
COSMIC EPS15 COSMIC
Ensembl Genes ENSG00000085832 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000360795 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000360798 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000474739 UniProtKB/TrEMBL
Ensembl Transcript ENST00000371730 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000371733 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000465467 UniProtKB/TrEMBL
GTEx ENSG00000085832 GTEx
HGNC ID HGNC:3419 ENTREZGENE
Human Proteome Map EPS15 Human Proteome Map
InterPro EF-hand-dom_pair UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_Hand_1_Ca_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_hand_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EH_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KMT2A UniProtKB/TrEMBL
  UIM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2060 UniProtKB/Swiss-Prot
NCBI Gene 2060 ENTREZGENE
OMIM 600051 OMIM
PANTHER PTHR45838:SF2 UniProtKB/TrEMBL
Pfam EF-hand_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27838 PharmGKB
PROSITE EF_HAND_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_HAND_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PS50031 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EFh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00027 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A4D6WHI2_HUMAN UniProtKB/TrEMBL
  B1AUU8_HUMAN UniProtKB/TrEMBL
  B7Z240 ENTREZGENE, UniProtKB/TrEMBL
  EPS15_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  S4R3U1_HUMAN UniProtKB/TrEMBL
UniProt Secondary B2R8J7 UniProtKB/Swiss-Prot
  D3DPJ2 UniProtKB/Swiss-Prot
  Q5SRH4 UniProtKB/Swiss-Prot