EML3 EMAP like 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EML3provided by HGNC
Official Full Name: EMAP like 3provided by HGNC
Primary source: HGNC:HGNC:26666
See related: Ensembl:ENSG00000149499 MIM:618118; AllianceGenome:HGNC:26666
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ELP95; EMAP3; EMAP95
Summary: Predicted to enable microtubule binding activity. Involved in mitotic metaphase chromosome alignment and regulation of mitotic spindle assembly. Located in several cellular components, including midbody; mitotic spindle microtubule; and nucleus. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in spleen (RPKM 13.3), fat (RPKM 13.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q12.3

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (62602218..62612775, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (62591666..62602223, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (62369690..62380247, complement)

Chromosome 11 - NC_000011.10 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: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

results indicate that EML3 regulates mitotic spindle assembly and the kinetochore-MT connection by regulating MT-based MT nucleation and recruiting Augmin/gamma-TuRC to MTs.
Title: The microtubule-associated protein EML3 regulates mitotic spindle assembly by recruiting the Augmin complex to spindle microtubules.
Functional analysis of EML3 demonstrates an important role for EML3 in correct metaphase chromosome alignment.
Title: EML3 is a nuclear microtubule-binding protein required for the correct alignment of chromosomes in metaphase.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
retropepsin	gag-pol	HIV-1 PR is identified to have a physical interaction with echinoderm microtubule associated protein like 3 (EML3) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_4123-4124:996679395:1 (e-PCR)
- UniSTS:269326

MARC_4683-4684:996679606:1 (e-PCR)
- UniSTS:269418

RH46908 (e-PCR)
- UniSTS:52106

D1S3695 (e-PCR)
- UniSTS:474273

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables microtubule binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in microtubule cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic metaphase chromosome alignment	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of mitotic spindle assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in microtubule cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
located_in midbody	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with mitotic spindle	IBA Inferred from Biological aspect of Ancestor more info
located_in mitotic spindle microtubule	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in spindle	IDA Inferred from Direct Assay more info	PubMed
located_in spindle microtubule	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: echinoderm microtubule-associated protein-like 3

Names: EMAP-3; echinoderm microtubule associated protein like 3

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_001300793.2 → NP_001287722.1 echinoderm microtubule-associated protein-like 3 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AK093146, AP001458, BC050467, CN386216

UniProtKB/TrEMBL

B4DL97

Related

ENSP00000378256.4, ENST00000394776.8

Conserved Domains (5) summary

smart00320
Location:300 → 344

WD40; WD40 repeats

COG2319
Location:348 → 756

WD40; WD40 repeat [General function prediction only]

pfam03451
Location:216 → 285

HELP; HELP motif

sd00039
Location:518 → 556

7WD40; WD40 repeat [structural motif]

cl02567
Location:399 → 755

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_001300794.2 → NP_001287723.1 echinoderm microtubule-associated protein-like 3 isoform 2

See identical proteins and their annotated locations for NP_001287723.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is 1 aa shorter compared to isoform 1.

Source sequence(s)

AK296901, AP001458, BC050467, CN386216, CN386217

Consensus CDS

CCDS76415.1

UniProtKB/TrEMBL

B4DL97

Related

ENSP00000434513.1, ENST00000529309.5

Conserved Domains (5) summary

smart00320
Location:299 → 343

WD40; WD40 repeats

COG2319
Location:347 → 755

WD40; WD40 repeat [General function prediction only]

pfam03451
Location:215 → 284

HELP; HELP motif

sd00039
Location:517 → 555

7WD40; WD40 repeat [structural motif]

cl02567
Location:398 → 754

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_001411016.1 → NP_001397945.1 echinoderm microtubule-associated protein-like 3 isoform 4

Status: VALIDATED

Source sequence(s)

AP001458

Consensus CDS

CCDS91491.1

UniProtKB/TrEMBL

B7WPE2

Related

ENSP00000278845.4, ENST00000278845.8
NM_153265.3 → NP_694997.2 echinoderm microtubule-associated protein-like 3 isoform 3

See identical proteins and their annotated locations for NP_694997.2

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate in-frame splice junction at the 5' end of an exon and differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (3) lacks a single alternate aa and has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AP001458, BC050467, BC108280, CN386216, CN386217

Consensus CDS

CCDS8023.2

UniProtKB/Swiss-Prot

Q32P44, Q6ZQW7, Q8NA55

UniProtKB/TrEMBL

B4DL97

Related

ENSP00000378254.2, ENST00000394773.7

Conserved Domains (3) summary

sd00039
Location:517 → 555

7WD40; WD40 repeat [structural motif]

pfam03451
Location:215 → 284

HELP; HELP motif

cl29593
Location:551 → 868

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_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

62602218..62612775 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047426716.1 → XP_047282672.1 echinoderm microtubule-associated protein-like 3 isoform X7
XM_047426717.1 → XP_047282673.1 echinoderm microtubule-associated protein-like 3 isoform X8
XM_011544896.4 → XP_011543198.1 echinoderm microtubule-associated protein-like 3 isoform X2

UniProtKB/TrEMBL

H0Y3M3

Conserved Domains (5) summary

smart00320
Location:349 → 393

WD40; WD40 repeats

COG2319
Location:397 → 805

WD40; WD40 repeat [General function prediction only]

pfam03451
Location:265 → 334

HELP; HELP motif

sd00039
Location:567 → 605

7WD40; WD40 repeat [structural motif]

cl02567
Location:448 → 804

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_006718491.5 → XP_006718554.1 echinoderm microtubule-associated protein-like 3 isoform X4

UniProtKB/TrEMBL

H0Y3M3

Conserved Domains (4) summary

COG2319
Location:563 → 920

WD40; WD40 repeat [General function prediction only]

pfam03451
Location:265 → 334

HELP; HELP motif

sd00039
Location:567 → 605

7WD40; WD40 repeat [structural motif]

cl02567
Location:601 → 918

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_011544897.4 → XP_011543199.1 echinoderm microtubule-associated protein-like 3 isoform X5

UniProtKB/TrEMBL

H0Y3M3

Conserved Domains (4) summary

COG2319
Location:352 → 754

WD40; WD40 repeat [General function prediction only]

pfam03451
Location:266 → 335

HELP; HELP motif

sd00039
Location:516 → 554

7WD40; WD40 repeat [structural motif]

cl02567
Location:350 → 753

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_006718489.5 → XP_006718552.1 echinoderm microtubule-associated protein-like 3 isoform X1

UniProtKB/TrEMBL

H0Y3M3

Conserved Domains (5) summary

smart00320
Location:350 → 394

WD40; WD40 repeats

COG2319
Location:398 → 806

WD40; WD40 repeat [General function prediction only]

pfam03451
Location:266 → 335

HELP; HELP motif

sd00039
Location:568 → 606

7WD40; WD40 repeat [structural motif]

cl02567
Location:449 → 805

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_006718490.5 → XP_006718553.1 echinoderm microtubule-associated protein-like 3 isoform X3

UniProtKB/TrEMBL

H0Y3M3

Conserved Domains (4) summary

COG2319
Location:564 → 921

WD40; WD40 repeat [General function prediction only]

pfam03451
Location:266 → 335

HELP; HELP motif

sd00039
Location:568 → 606

7WD40; WD40 repeat [structural motif]

cl02567
Location:602 → 919

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_047426715.1 → XP_047282671.1 echinoderm microtubule-associated protein-like 3 isoform X6

Related

ENSP00000435064.1, ENST00000494176.6
XM_017017481.3 → XP_016872970.1 echinoderm microtubule-associated protein-like 3 isoform X9

UniProtKB/TrEMBL

G3V1D0
XM_017017482.2 → XP_016872971.1 echinoderm microtubule-associated protein-like 3 isoform X10

UniProtKB/TrEMBL

A0A024R532, G3V195

Conserved Domains (4) summary

COG2319
Location:397 → 754

WD40; WD40 repeat [General function prediction only]

pfam03451
Location:99 → 168

HELP; HELP motif

sd00039
Location:401 → 439

7WD40; WD40 repeat [structural motif]

cl02567
Location:435 → 752

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_047426718.1 → XP_047282674.1 echinoderm microtubule-associated protein-like 3 isoform X11

Related

ENSP00000433417.1, ENST00000531557.5

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

62591666..62602223 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054368327.1 → XP_054224302.1 echinoderm microtubule-associated protein-like 3 isoform X7
XM_054368328.1 → XP_054224303.1 echinoderm microtubule-associated protein-like 3 isoform X8
XM_054368323.1 → XP_054224298.1 echinoderm microtubule-associated protein-like 3 isoform X3
XM_054368325.1 → XP_054224300.1 echinoderm microtubule-associated protein-like 3 isoform X5
XM_054368322.1 → XP_054224297.1 echinoderm microtubule-associated protein-like 3 isoform X2
XM_054368321.1 → XP_054224296.1 echinoderm microtubule-associated protein-like 3 isoform X1
XM_054368324.1 → XP_054224299.1 echinoderm microtubule-associated protein-like 3 isoform X4
XM_054368326.1 → XP_054224301.1 echinoderm microtubule-associated protein-like 3 isoform X6
XM_054368329.1 → XP_054224304.1 echinoderm microtubule-associated protein-like 3 isoform X9
XM_054368330.1 → XP_054224305.1 echinoderm microtubule-associated protein-like 3 isoform X10
XM_054368331.1 → XP_054224306.1 echinoderm microtubule-associated protein-like 3 isoform X11