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    EML4 echinoderm microtubule associated protein like 4 [ Homo sapiens (human) ]

    Gene ID: 27436, updated on 4-Jun-2017
    Official Symbol
    EML4provided by HGNC
    Official Full Name
    echinoderm microtubule associated protein like 4provided by HGNC
    Primary source
    HGNC:HGNC:1316
    See related
    Ensembl:ENSG00000143924 MIM:607442; Vega:OTTHUMG00000128603
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C2orf2; ELP120; EMAP-4; EMAPL4; ROPP120
    Summary
    This gene is a member of the echinoderm microtubule associated protein-like family. The encoded WD-repeat protein may be involved in microtubule formation. Abnormal fusion of parts of this gene with portions of the anaplastic lymphoma receptor tyrosine kinase gene, which generates EML4-ALK fusion transcripts, is one of the primary mutations associated with non-small cell lung cancer. Alternative splicing of this gene results in two transcript variants. [provided by RefSeq, Jan 2015]
    Orthologs
    Location:
    2p21
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 2 NC_000002.12 (42169338..42332548)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (42396490..42559688)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374531 Neighboring gene protein kinase domain containing, cytoplasmic Neighboring gene uncharacterized LOC102723824 Neighboring gene uncharacterized LOC107985874 Neighboring gene uncharacterized LOC107985873 Neighboring gene cytochrome c oxidase subunit 7A2 like Neighboring gene uncharacterized LOC105374537

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Non-small cell lung cancer, organism-specific biosystem (from KEGG)
      Non-small cell lung cancer, organism-specific biosystemLung cancer is a leading cause of cancer death among men and women in industrialized countries. Non-small-cell lung cancer (NSCLC) accounts for approximately 85% of lung cancer and represents a heter...
    • Non-small cell lung cancer, conserved biosystem (from KEGG)
      Non-small cell lung cancer, conserved biosystemLung cancer is a leading cause of cancer death among men and women in industrialized countries. Non-small-cell lung cancer (NSCLC) accounts for approximately 85% of lung cancer and represents a heter...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ10942, FLJ32318, DKFZp686P18118

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    molecular_function ND
    No biological Data available
    more info
     
    Process Evidence Code Pubs
    microtubule-based process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    mitotic cell cycle NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm NAS
    Non-traceable Author Statement
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    microtubule IEA
    Inferred from Electronic Annotation
    more info
     
    microtubule cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Preferred Names
    echinoderm microtubule-associated protein-like 4
    Names
    restrictedly overexpressed proliferation-associated protein
    ropp 120

    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_001145076.2NP_001138548.1  echinoderm microtubule-associated protein-like 4 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1. The resulting isoform (b) is shorter, compared to isoform a.
      Source sequence(s)
      AF177377, AK021782, BC140845, BC146799, HY044849
      Consensus CDS
      CCDS46266.1
      UniProtKB/Swiss-Prot
      Q9HC35
      Related
      ENSP00000385059.2, OTTHUMP00000201447, ENST00000402711.6, OTTHUMT00000325773
      Conserved Domains (4) summary
      COG2319
      Location:235684
      WD40; WD40 repeat [General function prediction only]
      pfam03451
      Location:167238
      HELP; HELP motif
      sd00039
      Location:580615
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:444805
      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_019063.4NP_061936.2  echinoderm microtubule-associated protein-like 4 isoform a

      See identical proteins and their annotated locations for NP_061936.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AF177377, HY044849
      Consensus CDS
      CCDS1807.1
      UniProtKB/Swiss-Prot
      Q9HC35
      Related
      ENSP00000320663.5, OTTHUMP00000158762, ENST00000318522.9, OTTHUMT00000250463
      Conserved Domains (4) summary
      COG2319
      Location:293742
      WD40; WD40 repeat [General function prediction only]
      pfam03451
      Location:225296
      HELP; HELP motif
      sd00039
      Location:638673
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:502863
      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: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

      Range
      42169338..42332548
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005264267.1XP_005264324.1  echinoderm microtubule-associated protein-like 4 isoform X1

      UniProtKB/TrEMBL
      B5MBZ0
      Related
      ENSP00000384939.3, OTTHUMP00000201455, ENST00000401738.3, OTTHUMT00000325806
      Conserved Domains (5) summary
      COG2319
      Location:291753
      WD40; WD40 repeat [General function prediction only]
      pfam03451
      Location:236307
      HELP; HELP motif
      pfam16228
      Location:100234
      DUF4887; Domain of unknown function (DUF4887)
      sd00039
      Location:649684
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:513874
      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. XM_006711991.1XP_006712054.1  echinoderm microtubule-associated protein-like 4 isoform X2

      Conserved Domains (4) summary
      COG2319
      Location:233695
      WD40; WD40 repeat [General function prediction only]
      pfam03451
      Location:178249
      HELP; HELP motif
      sd00039
      Location:591626
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:455816
      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. XM_005264268.3XP_005264325.1  echinoderm microtubule-associated protein-like 4 isoform X4

      Conserved Domains (5) summary
      COG2319
      Location:291753
      WD40; WD40 repeat [General function prediction only]
      pfam03451
      Location:236307
      HELP; HELP motif
      pfam16228
      Location:100234
      DUF4887; Domain of unknown function (DUF4887)
      sd00039
      Location:423464
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:467753
      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_006711992.2XP_006712055.1  echinoderm microtubule-associated protein-like 4 isoform X3

      Conserved Domains (5) summary
      COG2319
      Location:212674
      WD40; WD40 repeat [General function prediction only]
      pfam03451
      Location:157228
      HELP; HELP motif
      pfam16228
      Location:21155
      DUF4887; Domain of unknown function (DUF4887)
      sd00039
      Location:570605
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:434795
      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 ...

    RNA

    1. XR_001738708.1 RNA Sequence

    2. XR_001738709.1 RNA Sequence

    3. XR_001738710.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      42326032..42489120
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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