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    EML3 EMAP like 3 [ Homo sapiens (human) ]

    Gene ID: 256364, updated on 27-Nov-2024

    Summary

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    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

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    See EML3 in Genome Data Viewer
    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_000011.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62342449-62343410 Neighboring gene terminal uridylyl transferase 1, U6 snRNA-specific Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62358805-62359500 Neighboring gene metastasis associated 1 family member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4828 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:62368208-62368918 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3419 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4830 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62370341-62371050 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4831 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:62378772-62379330 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62379331-62379890 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4832 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:62384118-62384618 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:62384619-62385119 Neighboring gene retinal outer segment membrane protein 1 Neighboring gene beta-1,3-glucuronyltransferase 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:62388711-62389304

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Eml5, a novel WD40 domain protein expressed in rat brain. O'Connor V, et al. Gene, 2004 Jul 7. PMID 15225882
    2. Microtubule association of EML proteins and the EML4-ALK variant 3 oncoprotein require an N-terminal trimerization domain. Richards MW, et al. Biochem J, 2015 May 1. PMID 25740311
    3. The microtubule-associated protein EML3 regulates mitotic spindle assembly by recruiting the Augmin complex to spindle microtubules. Luo J, et al. J Biol Chem, 2019 Apr 5. PMID 30723163, Free PMC Article
    4. EML3 is a nuclear microtubule-binding protein required for the correct alignment of chromosomes in metaphase. Tegha-Dunghu J, et al. J Cell Sci, 2008 May 15. PMID 18445686
    5. Adaptor complex AP2/PICALM, through interaction with LC3, targets Alzheimer's APP-CTF for terminal degradation via autophagy. Tian Y, et al. Proc Natl Acad Sci U S A, 2013 Oct 15. PMID 24067654, Free PMC Article

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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

    Homology

    Clone Names

    • FLJ35827, MGC111422

    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)

    1. 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 ...

    2. 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 ...

    3. 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

    4. 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

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      62602218..62612775 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047426716.1 → XP_047282672.1  echinoderm microtubule-associated protein-like 3 isoform X7

    2. XM_047426717.1 → XP_047282673.1  echinoderm microtubule-associated protein-like 3 isoform X8

    3. 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 ...

    4. 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 ...

    5. 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 ...

    6. 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 ...

    7. 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 ...

    8. XM_047426715.1 → XP_047282671.1  echinoderm microtubule-associated protein-like 3 isoform X6

      Related
      ENSP00000435064.1, ENST00000494176.6

    9. XM_017017481.3 → XP_016872970.1  echinoderm microtubule-associated protein-like 3 isoform X9

      UniProtKB/TrEMBL
      G3V1D0

    10. 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 ...

    11. XM_047426718.1 → XP_047282674.1  echinoderm microtubule-associated protein-like 3 isoform X11

      Related
      ENSP00000433417.1, ENST00000531557.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      62591666..62602223 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368327.1 → XP_054224302.1  echinoderm microtubule-associated protein-like 3 isoform X7

    2. XM_054368328.1 → XP_054224303.1  echinoderm microtubule-associated protein-like 3 isoform X8

    3. XM_054368323.1 → XP_054224298.1  echinoderm microtubule-associated protein-like 3 isoform X3

    4. XM_054368325.1 → XP_054224300.1  echinoderm microtubule-associated protein-like 3 isoform X5

    5. XM_054368322.1 → XP_054224297.1  echinoderm microtubule-associated protein-like 3 isoform X2

    6. XM_054368321.1 → XP_054224296.1  echinoderm microtubule-associated protein-like 3 isoform X1

    7. XM_054368324.1 → XP_054224299.1  echinoderm microtubule-associated protein-like 3 isoform X4

    8. XM_054368326.1 → XP_054224301.1  echinoderm microtubule-associated protein-like 3 isoform X6

    9. XM_054368329.1 → XP_054224304.1  echinoderm microtubule-associated protein-like 3 isoform X9

    10. XM_054368330.1 → XP_054224305.1  echinoderm microtubule-associated protein-like 3 isoform X10

    11. XM_054368331.1 → XP_054224306.1  echinoderm microtubule-associated protein-like 3 isoform X11

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q32P44.1 GenPept UniProtKB/Swiss-Prot:Q32P44

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