Eps15l1 MGI Mouse Gene Detail - MGI:104582 - epidermal growth factor receptor pathway substrate 15-like 1

Symbol

Eps15l1
Name

epidermal growth factor receptor pathway substrate 15-like 1
Synonyms

9830147J04Rik, Eps15R, Eps15-rs

Feature Type

protein coding gene
IDs

MGI:104582
NCBI Gene: 13859
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

Chr8:73094843-73175304 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 8, 35.02 cM, cytoband C1
Mapping Data

3 experiments

SNPs within 2kb

1357 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_104582	protein coding gene	Chr8:73094834-73175410 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0033780	protein coding gene	Chr8:72824220-72912850 (-)
A/J	MGP_AJ_G0033762	protein coding gene	Chr8:69877256-69957338 (-)
AKR/J	MGP_AKRJ_G0033689	protein coding gene	Chr8:71941438-72024821 (-)
BALB/cJ	MGP_BALBcJ_G0033756	protein coding gene	Chr8:70011807-70095700 (-)
C3H/HeJ	MGP_C3HHeJ_G0033465	protein coding gene	Chr8:72574155-72658084 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0034276	protein coding gene	Chr8:75584094-75675999 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0031217	protein coding gene	Chr8:64396897-64480708 (-)
CAST/EiJ	MGP_CASTEiJ_G0032794	protein coding gene	Chr8:71926180-72008399 (-)
CBA/J	MGP_CBAJ_G0033444	protein coding gene	Chr8:78290213-78387263 (-)
DBA/2J	MGP_DBA2J_G0033598	protein coding gene	Chr8:69619780-69703556 (-)
FVB/NJ	MGP_FVBNJ_G0033543	protein coding gene	Chr8:68694967-68781035 (-)
LP/J	MGP_LPJ_G0033687	protein coding gene	Chr8:72912141-72998973 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0033587	protein coding gene	Chr8:80781093-80869661 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0034293	protein coding gene	Chr8:72011266-72098609 (-)
PWK/PhJ	MGP_PWKPhJ_G0032500	protein coding gene	Chr8:68878528-68961264 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0032337	protein coding gene	Chr8:70933171-71033487 (-)
WSB/EiJ	MGP_WSBEiJ_G0032909	protein coding gene	Chr8:72316077-72403221 (-)

Human Ortholog

EPS15L1, epidermal growth factor receptor pathway substrate 15 like 1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

EPS15L1, epidermal growth factor receptor pathway substrate 15 like 1
Synonyms

EPS15R
Links

HGNC:24634

NCBI Gene ID: 58513

neXtProt AC: NX_Q9UBC2

UniProt: Q9UBC2
Chr Location

19p13.11; chr19:16355225-16472085 (-) GRCh38

MGI Vertebrate Homology

Eps15l1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: EPS15L1
Gene Tree

Eps15l1

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Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

20 phenotypes from 2 alleles in 2 genetic backgrounds
25 phenotypes from multigenic genotypes
12 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

79
Chemically induced (other)

1
Endonuclease-mediated

1
Gene trapped

73
Targeted

4
Genomic Mutations

1 involving Eps15l1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

80 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit partial early postnatal lethality, respiration and feeding problems, hyporesponsiveness to tactile stimuli, and decreased synaptic vesicle number; surviving mice show a reduced growth rate, alterations in behavioral tests, and premature death.

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All GO Annotations

16
GO References

7

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

760
Tissues

45
cDNA Data

120
Literature Summary

3

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA EPS15L1

Xenbase eps15l1

ZFIN eps15l1b

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All Sequences

86
RefSeq

35
UniProt

3
CCDS

CCDS52597.1, CCDS85560.1, CCDS85561.1

Ensembl

ENSMUSG00000006276 (Evidence)
NCBI Gene

13859

			Length	Strain/Species	Flank
genomic	ENSMUSG00000006276	Ensembl Gene Model \| MGI Sequence Detail	80462	C57BL/6J	± kb
transcript	ENSMUST00000163643	Ensembl \| MGI Sequence Detail	3129	Not Applicable
polypeptide	ENSMUSP00000129739	Ensembl \| MGI Sequence Detail	907	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000007146 epidermal growth factor receptor substrate 15-like 1

(term hierarchy)
InterPro Domains

IPR018247 EF-Hand 1, calcium-binding site

IPR002048 EF-hand domain

IPR011992 EF-hand domain pair

IPR000261 EH domain

IPR003903 Ubiquitin interacting motif

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All nucleic 120

cDNA 120

Microarray probesets 5

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MGD-MRK-26016, MGI:2142589, MGI:2444954

Summaries

All 44

Developmental Gene Expression 3

Diseases 1

Gene Ontology 7

Phenotypes 12
Earliest

J:26202 Schumacher C, et al., The SH3 domain of Crk binds specifically to a conserved proline-rich motif in Eps15 and Eps15R. J Biol Chem. 1995 Jun 23;270(25):15341-7
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Eps15l1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr81787	Chr8:73175283-73175327 (-)	-1 bp
Tssr81786	Chr8:73147314-73147318 (-)	27,988 bp
Tssr81785	Chr8:73142803-73142805 (-)	32,500 bp
Tssr81784	Chr8:73140864-73140899 (-)	34,422 bp
Tssr81783	Chr8:73140793-73140834 (-)	34,490 bp
Tssr81782	Chr8:73131766-73131789 (-)	43,526 bp
Tssr81781	Chr8:73115295-73115306 (-)	60,003 bp
Tssr81780	Chr8:73104845-73104849 (-)	70,457 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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