Eml1 MGI Mouse Gene Detail - MGI:1915769 - echinoderm microtubule associated protein like 1

Symbol

Eml1
Name

echinoderm microtubule associated protein like 1
Synonyms

1110008N23Rik, A930030P13Rik, ELP79, heco

Feature Type

protein coding gene
IDs

MGI:1915769
NCBI Gene: 68519
Alliance

gene page
Transcription Start Sites

19 TSS

Sequence Map

Chr12:108337265-108505835 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 12, 59.46 cM
Mapping Data

3 experiments

SNPs within 2kb

5213 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1915769	protein coding gene	Chr12:108337216-108505876 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0020105	protein coding gene	Chr12:110487832-110675286 (+)
A/J	MGP_AJ_G0020059	protein coding gene	Chr12:106302309-106474665 (+)
AKR/J	MGP_AKRJ_G0020035	protein coding gene	Chr12:109389867-109564773 (+)
BALB/cJ	MGP_BALBcJ_G0020045	protein coding gene	Chr12:106713544-106885302 (+)
C3H/HeJ	MGP_C3HHeJ_G0019847	protein coding gene	Chr12:109831843-110008365 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0020490	protein coding gene	Chr12:113889055-114080552 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0018102	protein coding gene	Chr12:102839165-103008809 (+)
CAST/EiJ	MGP_CASTEiJ_G0019389	protein coding gene	Chr12:104763270-104946971 (+)
CBA/J	MGP_CBAJ_G0019814	protein coding gene	Chr12:118427469-118616309 (+)
DBA/2J	MGP_DBA2J_G0019931	protein coding gene	Chr12:105838604-106015682 (+)
FVB/NJ	MGP_FVBNJ_G0019916	protein coding gene	Chr12:104619109-104797979 (+)
LP/J	MGP_LPJ_G0020006	protein coding gene	Chr12:110360228-110546840 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019954	protein coding gene	Chr12:121619955-121799856 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0020519	protein coding gene	Chr12:108856358-109041210 (+)
PWK/PhJ	MGP_PWKPhJ_G0019148	protein coding gene	Chr12:100454083-100625355 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0018952	protein coding gene	Chr12:103059781-103245190 (+)
WSB/EiJ	MGP_WSBEiJ_G0019446	protein coding gene	Chr12:109793048-109977133 (+)

Human Ortholog

EML1, EMAP like 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

EML1, EMAP like 1
Synonyms

BH, ELP79, EMAP, EMAP-1, EMAPL
Links

HGNC:3330

NCBI Gene ID: 2009

neXtProt AC: NX_O00423

UniProt: O00423
Chr Location

14q32.2; chr14:99737693-99942060 (+) GRCh38

MGI Vertebrate Homology

Eml1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: EML1
Gene Tree

Eml1

Diseases

2 with Eml1 mouse models; 1 with human EML1 associations

Human Disease

Mouse Models

subcortical band heterotopia

IDs

View 2 models

congenital nervous system abnormality

IDs

View 3 models

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

3 with disease annotations

References

4 with disease annotations

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Phenotype Summary

61 phenotypes from 5 alleles in 7 genetic backgrounds
16 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

8
Chemically induced (ENU)

2
Endonuclease-mediated

2
Gene trapped

1
Spontaneous

1
Targeted

2
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

45 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a spontaneous mutation exhibit subcortical band heterotopia associated with seizures, developmental delay and behavioral deficits.

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All GO Annotations

20
GO References

6

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

721
Tissues

12
cDNA Data

89
Literature Summary

7

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase eml1

ZFIN eml1

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All Sequences

89
RefSeq

30
UniProt

6
CCDS

CCDS36555.1, CCDS36556.1, CCDS70420.1

Ensembl

ENSMUSG00000058070 (Evidence)
NCBI Gene

68519

			Length	Strain/Species	Flank
genomic	68519	NCBI Gene Model \| MGI Sequence Detail	168571	C57BL/6J	± kb
transcript	NM_001364196	RefSeq \| MGI Sequence Detail	4258	ZRU/MplStud
polypeptide	Q05BC3	UniProt \| EBI \| MGI Sequence Detail	814	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000007056 echinoderm microtubule-associated protein-like 1

(term hierarchy)
InterPro Domains

IPR005108 HELP motif

IPR011047 Quinoprotein alcohol dehydrogenase-like superfamily

IPR001680 WD40 repeat

IPR015943 WD40/YVTN repeat-like-containing domain superfamily

IPR050630 WD repeat Echinoderm Microtubule-associated Protein-like
GlyGen

Q05BC3 2 sites, 1 O-linked glycan (2 sites)

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All nucleic 91

cDNA 90

Other 1

Microarray probesets 3

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MGI:2144897, MGI:2144910, MGI:2442730, MGI:2445787, MGI:5560738

Summaries

All 47

Developmental Gene Expression 7

Diseases 4

Gene Ontology 6

Phenotypes 16
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

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

TSS for Eml1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr114964	Chr12:108337244-108337284 (+)	-1 bp
Tssr114965	Chr12:108337439-108337455 (+)	182 bp
Tssr114966	Chr12:108337457-108337469 (+)	198 bp
Tssr114967	Chr12:108337480-108337503 (+)	227 bp
Tssr114968	Chr12:108376832-108376844 (+)	39,573 bp
Tssr114969	Chr12:108376884-108376921 (+)	39,638 bp
Tssr114970	Chr12:108377139-108377158 (+)	39,884 bp
Tssr114971	Chr12:108389137-108389148 (+)	51,878 bp
Tssr114972	Chr12:108389328-108389395 (+)	52,097 bp
Tssr114973	Chr12:108389397-108389416 (+)	52,142 bp
Tssr114974	Chr12:108416558-108416584 (+)	79,306 bp
Tssr114975	Chr12:108416671-108416674 (+)	79,408 bp
Tssr114976	Chr12:108439011-108439036 (+)	101,759 bp
Tssr114977	Chr12:108439138-108439171 (+)	101,890 bp
Tssr114978	Chr12:108443270-108443274 (+)	106,007 bp
Tssr114979	Chr12:108451558-108451588 (+)	114,308 bp
Tssr114980	Chr12:108454466-108454474 (+)	117,205 bp
Tssr114981	Chr12:108454490-108454500 (+)	117,230 bp
Tssr114982	Chr12:108461539-108461543 (+)	124,276 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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