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EML4 EMAP like 4 [ Homo sapiens (human) ]

Gene ID: 27436, updated on 5-Sep-2021

Summary

Official Symbol
EML4provided by HGNC
Official Full Name
EMAP like 4provided by HGNC
Primary source
HGNC:HGNC:1316
See related
Ensembl:ENSG00000143924 MIM:607442
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]
Expression
Ubiquitous expression in appendix (RPKM 24.1), duodenum (RPKM 22.4) and 25 other tissues See more
Orthologs
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Genomic context

See EML4 in Genome Data Viewer
Location:
2p21
Exon count:
26
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (42169353..42332548)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (42396493..42559688)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374531 Neighboring gene protein kinase domain containing, cytoplasmic Neighboring gene EML4 antisense RNA 1 Neighboring gene HNF1 motif-containing MPRA enhancer 263/264 Neighboring gene uncharacterized LOC107985874 Neighboring gene uncharacterized LOC107985873 Neighboring gene cytochrome c oxidase subunit 7A2 like Neighboring gene uncharacterized LOC105374537

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10942, FLJ32318, DKFZp686P18118

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables alpha-tubulin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables beta-tubulin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables microtubule binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables molecular_function ND
No biological Data available
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in attachment of spindle microtubules to kinetochore IMP
Inferred from Mutant Phenotype
more info
PubMed 
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
PubMed 
involved_in microtubule-based process NAS
Non-traceable Author Statement
more info
PubMed 
involved_in mitotic cell cycle NAS
Non-traceable Author Statement
more info
PubMed 
involved_in mitotic metaphase plate congression 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 cytoplasm NAS
Non-traceable Author Statement
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in membrane HDA PubMed 
located_in microtubule IDA
Inferred from Direct Assay
more info
PubMed 
located_in microtubule organizing center IDA
Inferred from Direct Assay
more info
PubMed 
located_in midbody IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitotic spindle IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
echinoderm microtubule-associated protein-like 4
Names
echinoderm microtubule associated protein like 4
restrictedly overexpressed proliferation-associated protein
ropp 120

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_001145076.3NP_001138548.2  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)
    AC006038, AC083949, AC096668
    Consensus CDS
    CCDS46266.1
    Related
    ENSP00000385059.2, ENST00000402711.6
    Conserved Domains (3) summary
    sd00039
    Location:580615
    7WD40; WD40 repeat [structural motif]
    pfam03451
    Location:167238
    HELP; HELP motif
    cl29593
    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_019063.5NP_061936.3  echinoderm microtubule-associated protein-like 4 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AC006038, AC083949, AC096668
    Consensus CDS
    CCDS1807.1
    Related
    ENSP00000320663.5, ENST00000318522.10
    Conserved Domains (3) summary
    sd00039
    Location:638673
    7WD40; WD40 repeat [structural motif]
    pfam03451
    Location:225296
    HELP; HELP motif
    cl25539
    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 Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    42169353..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, ENST00000401738.3
    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

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