Eml1 echinoderm microtubule associated protein like 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Eml1provided by MGI
Official Full Name: echinoderm microtubule associated protein like 1provided by MGI
Primary source: MGI:MGI:1915769
See related: Ensembl:ENSMUSG00000058070 AllianceGenome:MGI:1915769
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: EMAP; heco; ELP79; EMAPL; EMAP-1; 1110008N23Rik; A930030P13Rik
Summary: Enables microtubule binding activity. Involved in brain development; mitotic spindle organization; and neuroblast proliferation. Acts upstream of or within hematopoietic progenitor cell differentiation. Located in cytosol. Colocalizes with mitotic spindle midzone and mitotic spindle pole. Is expressed in Sertoli cell; liver; lung; nervous system; and retina. Used to study congenital nervous system abnormality and subcortical band heterotopia. Human ortholog(s) of this gene implicated in subcortical band heterotopia. Orthologous to human EML1 (EMAP like 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in bladder adult (RPKM 32.9), subcutaneous fat pad adult (RPKM 15.9) and 22 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12 F1; 12 59.46 cM

Exon count:: 30

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (108337265..108505835)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (108371002..108539576)

Chromosome 12 - NC_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

EML1 is essential for retinal photoreceptor migration and survival.
Title: EML1 is essential for retinal photoreceptor migration and survival.
Disruption in murine Eml1 perturbs retinal lamination during early development.
Title: Disruption in murine Eml1 perturbs retinal lamination during early development.
The neuroanatomy of Eml1 knockout mice, a model of subcortical heterotopia.
Title: The neuroanatomy of Eml1 knockout mice, a model of subcortical heterotopia.
Low Eml1 expression is associated with subcortical band heterotopia.
Title: Eml1 loss impairs apical progenitor spindle length and soma shape in the developing cerebral cortex.
Eml1 knockdown mimicked the HeCo progenitor phenotype and reexpression rescued it
Title: Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (2) 1 citation
Endonuclease-mediated (2)
Spontaneous (1) 1 citation
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

D12Mit279 (e-PCR), detects polymorphism
- UniSTS:126837

AI847476 (e-PCR)
- UniSTS:180468

AI853955 (e-PCR)
- UniSTS:180470

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables microtubule binding	IBA Inferred from Biological aspect of Ancestor more info
enables microtubule binding	IDA Inferred from Direct Assay more info	PubMed
enables microtubule binding	ISO Inferred from Sequence Orthology more info
enables tubulin binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in brain development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in brain development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within hematopoietic progenitor cell differentiation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in microtubule cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in microtubule cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic spindle organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuroblast proliferation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in microtubule	ISO Inferred from Sequence Orthology more info
colocalizes_with microtubule cytoskeleton	ISO Inferred from Sequence Orthology more info
colocalizes_with mitotic spindle	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with mitotic spindle midzone	IMP Inferred from Mutant Phenotype more info	PubMed
colocalizes_with mitotic spindle pole	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: echinoderm microtubule-associated protein-like 1

Names: echinoderm microtubule associated protein-like protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001043335.1 → NP_001036800.1 echinoderm microtubule-associated protein-like 1 isoform 1

See identical proteins and their annotated locations for NP_001036800.1

Status: VALIDATED

Source sequence(s)

BC053094, CD350405

Consensus CDS

CCDS36555.1

UniProtKB/Swiss-Prot

Q05AF8, Q05BC3, Q0P5V3

UniProtKB/TrEMBL

B9EKL9

Related

ENSMUSP00000105486.2, ENSMUST00000109860.8

Conserved Domains (4) summary

COG2319
Location:402 → 813

WD40; WD40 repeat [General function prediction only]

pfam03451
Location:184 → 257

HELP; HELP motif

sd00039
Location:373 → 415

7WD40; WD40 repeat [structural motif]

cl02567
Location:264 → 652

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
NM_001043336.2 → NP_001036801.1 echinoderm microtubule-associated protein-like 1 isoform 2

Status: VALIDATED

Source sequence(s)

BC053094, BC059839, BY124470

Consensus CDS

CCDS36556.1

UniProtKB/TrEMBL

B9EKL9

Related

ENSMUSP00000057209.8, ENSMUST00000054955.14

Conserved Domains (3) summary

sd00039
Location:342 → 384

7WD40; WD40 repeat [structural motif]

pfam03451
Location:153 → 226

HELP; HELP motif

cl25539
Location:233 → 621

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
NM_001286346.1 → NP_001273275.1 echinoderm microtubule-associated protein-like 1 isoform 3

Status: VALIDATED

Source sequence(s)

AC154910, BC053094

UniProtKB/TrEMBL

B9EKL9

Conserved Domains (4) summary

COG2319
Location:389 → 800

WD40; WD40 repeat [General function prediction only]

pfam03451
Location:171 → 244

HELP; HELP motif

sd00039
Location:360 → 402

7WD40; WD40 repeat [structural motif]

cl02567
Location:251 → 639

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
NM_001286347.1 → NP_001273276.1 echinoderm microtubule-associated protein-like 1 isoform 4

Status: VALIDATED

Source sequence(s)

BC053094, BC059839, BY124470, DN172843

Consensus CDS

CCDS70420.1

UniProtKB/TrEMBL

B9EKL9, D3Z4J9

Related

ENSMUSP00000105483.2, ENSMUST00000109857.8

Conserved Domains (3) summary

sd00039
Location:359 → 401

7WD40; WD40 repeat [structural motif]

pfam03451
Location:170 → 243

HELP; HELP motif

cl25539
Location:250 → 638

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
NM_001364193.1 → NP_001351122.1 echinoderm microtubule-associated protein-like 1 isoform 5

Status: VALIDATED

Source sequence(s)

AC154910

UniProtKB/TrEMBL

B9EKL9

Conserved Domains (3) summary

sd00039
Location:404 → 446

7WD40; WD40 repeat [structural motif]

pfam03451
Location:215 → 288

HELP; HELP motif

cl25539
Location:295 → 683

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
NM_001364194.1 → NP_001351123.1 echinoderm microtubule-associated protein-like 1 isoform 6

Status: VALIDATED

Source sequence(s)

AC154910

UniProtKB/TrEMBL

B9EKL9

Conserved Domains (3) summary

sd00039
Location:390 → 432

7WD40; WD40 repeat [structural motif]

pfam03451
Location:201 → 274

HELP; HELP motif

cl25539
Location:281 → 669

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
NM_001364195.1 → NP_001351124.1 echinoderm microtubule-associated protein-like 1 isoform 7

Status: VALIDATED

Source sequence(s)

AC154910

UniProtKB/TrEMBL

B9EKL9

Conserved Domains (3) summary

sd00039
Location:370 → 412

7WD40; WD40 repeat [structural motif]

pfam03451
Location:181 → 254

HELP; HELP motif

cl25539
Location:261 → 649

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
NM_001364196.1 → NP_001351125.1 echinoderm microtubule-associated protein-like 1 isoform 4

Status: VALIDATED

Source sequence(s)

AC154910

Consensus CDS

CCDS70420.1

UniProtKB/TrEMBL

B9EKL9, D3Z4J9

Conserved Domains (3) summary

sd00039
Location:359 → 401

7WD40; WD40 repeat [structural motif]

pfam03451
Location:170 → 243

HELP; HELP motif

cl25539
Location:250 → 638

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
NM_001364197.1 → NP_001351126.1 echinoderm microtubule-associated protein-like 1 isoform 2

Status: VALIDATED

Source sequence(s)

AC154910

Consensus CDS

CCDS36556.1

UniProtKB/TrEMBL

B9EKL9

Conserved Domains (3) summary

sd00039
Location:342 → 384

7WD40; WD40 repeat [structural motif]

pfam03451
Location:153 → 226

HELP; HELP motif

cl25539
Location:233 → 621

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
NM_001364198.1 → NP_001351127.1 echinoderm microtubule-associated protein-like 1 isoform 8

Status: VALIDATED

Source sequence(s)

AC154910

Conserved Domains (3) summary

sd00039
Location:280 → 318

7WD40; WD40 repeat [structural motif]

pfam03451
Location:34 → 107

HELP; HELP motif

cl25539
Location:114 → 470

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
NM_001364199.1 → NP_001351128.1 echinoderm microtubule-associated protein-like 1 isoform 9

Status: VALIDATED

Source sequence(s)

AC154910

Conserved Domains (3) summary

sd00039
Location:186 → 228

7WD40; WD40 repeat [structural motif]

pfam03451
Location:1 → 70

HELP; HELP motif

cl25539
Location:77 → 465

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000078.7 Reference GRCm39 C57BL/6J

Range

108337265..108505835

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017315168.2 → XP_017170657.1 echinoderm microtubule-associated protein-like 1 isoform X1

UniProtKB/TrEMBL

B9EKL9

Conserved Domains (3) summary

sd00039
Location:444 → 486

7WD40; WD40 repeat [structural motif]

pfam03451
Location:255 → 328

HELP; HELP motif

cl29593
Location:335 → 723

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
XM_030246893.2 → XP_030102753.1 echinoderm microtubule-associated protein-like 1 isoform X2

UniProtKB/TrEMBL

B9EKL9

Conserved Domains (3) summary

sd00039
Location:387 → 429

7WD40; WD40 repeat [structural motif]

pfam03451
Location:198 → 271

HELP; HELP motif

cl29593
Location:278 → 666

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
XM_030246894.1 → XP_030102754.1 echinoderm microtubule-associated protein-like 1 isoform X3

UniProtKB/TrEMBL

B9EKL9

Conserved Domains (3) summary

sd00039
Location:346 → 388

7WD40; WD40 repeat [structural motif]

pfam03451
Location:157 → 230

HELP; HELP motif

cl29593
Location:237 → 625

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
XM_030246895.2 → XP_030102755.1 echinoderm microtubule-associated protein-like 1 isoform X4

UniProtKB/TrEMBL

B9EKL9

Conserved Domains (3) summary

sd00039
Location:329 → 371

7WD40; WD40 repeat [structural motif]

pfam03451
Location:140 → 213

HELP; HELP motif

cl29593
Location:220 → 608

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...