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EML6 EMAP like 6 [ Homo sapiens (human) ]

Gene ID: 400954, updated on 11-Jun-2021

Summary

Official Symbol
EML6provided by HGNC
Official Full Name
EMAP like 6provided by HGNC
Primary source
HGNC:HGNC:35412
See related
Ensembl:ENSG00000214595
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
Expression
Ubiquitous expression in fat (RPKM 28.9), adrenal (RPKM 17.8) and 24 other tissues See more
Orthologs
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Genomic context

See EML6 in Genome Data Viewer
Location:
2p16.1
Exon count:
46
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (54723467..54972908)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (54952149..55199157)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 11587 Neighboring gene uncharacterized LOC105374653 Neighboring gene EML6 antisense RNA 1 Neighboring gene RNA, U7 small nuclear 81 pseudogene Neighboring gene reticulon 4 Neighboring gene RNA, U6 small nuclear 433, pseudogene Neighboring gene uncharacterized LOC105374662

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

Phenotypes

Associated conditions

Description Tests
Common body mass index-associated variants confer risk of extreme obesity.
GeneReviews: Not available
Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.
GeneReviews: Not available
The genetic architecture of economic and political preferences.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ16635, FLJ42562, DKFZp686G14111

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables microtubule binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in microtubule IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
echinoderm microtubule-associated protein-like 6
Names
EMAP-6
echinoderm microtubule associated protein like 6

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_001039753.4NP_001034842.2  echinoderm microtubule-associated protein-like 6

    See identical proteins and their annotated locations for NP_001034842.2

    Status: VALIDATED

    Source sequence(s)
    AC013414, AC093110, AC104781, KF510815
    Consensus CDS
    CCDS46286.1
    UniProtKB/Swiss-Prot
    Q6ZMW3
    Related
    ENSP00000501148.1, ENST00000673695.1
    Conserved Domains (4) summary
    COG2319
    Location:48464
    WD40; WD40 repeat [General function prediction only]
    pfam03451
    Location:248
    HELP; HELP motif
    sd00039
    Location:64104
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:57353
    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
    54723467..54972908
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017004102.1XP_016859591.1  echinoderm microtubule-associated protein-like 6 isoform X5

  2. XM_017004100.2XP_016859589.1  echinoderm microtubule-associated protein-like 6 isoform X3

  3. XM_017004098.2XP_016859587.1  echinoderm microtubule-associated protein-like 6 isoform X1

  4. XM_017004099.2XP_016859588.1  echinoderm microtubule-associated protein-like 6 isoform X2

  5. XM_017004101.1XP_016859590.1  echinoderm microtubule-associated protein-like 6 isoform X4

RNA

  1. XR_002959298.1 RNA Sequence

  2. XR_001738743.1 RNA Sequence

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