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    EML1 EMAP like 1 [ Homo sapiens (human) ]

    Gene ID: 2009, updated on 10-Dec-2024

    Summary

    Official Symbol
    EML1provided by HGNC
    Official Full Name
    EMAP like 1provided by HGNC
    Primary source
    HGNC:HGNC:3330
    See related
    Ensembl:ENSG00000066629 MIM:602033; AllianceGenome:HGNC:3330
    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
    BH; EMAP; ELP79; EMAPL; EMAP-1
    Summary
    Human echinoderm microtubule-associated protein-like is a strong candidate for the Usher syndrome type 1A gene. Usher syndromes (USHs) are a group of genetic disorders consisting of congenital deafness, retinitis pigmentosa, and vestibular dysfunction of variable onset and severity depending on the genetic type. The disease process in USHs involves the entire brain and is not limited to the posterior fossa or auditory and visual systems. The USHs are catagorized as type I (USH1A, USH1B, USH1C, USH1D, USH1E and USH1F), type II (USH2A and USH2B) and type III (USH3). The type I is the most severe form. Gene loci responsible for these three types are all mapped. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in esophagus (RPKM 10.0), placenta (RPKM 9.2) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See EML1 in Genome Data Viewer
    Location:
    14q32.2
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (99737722..99942060)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (93969151..94174609)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (100204059..100408397)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6064 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6065 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6066 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6067 Neighboring gene Sharpr-MPRA regulatory region 4550 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100090366-100091068 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9005 Neighboring gene HHIP like 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100118945-100119445 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100118444-100118944 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100128755-100129256 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100129257-100129756 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100130377-100130920 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100130921-100131465 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9008 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100135414-100135955 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:100136897-100137496 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100138099-100138698 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100137497-100138098 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100141430-100141993 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100142557-100143120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100143121-100143683 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9009 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6068 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100174717-100175236 Neighboring gene cytochrome P450 family 46 subfamily A member 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6069 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100197899-100198758 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100203867-100204677 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100205489-100206299 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100215862-100216394 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100217886-100218507 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100218508-100219128 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100221613-100222233 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100222234-100222853 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100234232-100235190 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100235191-100236147 Neighboring gene Sharpr-MPRA regulatory region 11273 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9010 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:100259671-100260502 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100304941-100305568 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100342767-100343319 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr14:100349991-100350528 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100354721-100355374 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100355375-100356028 Neighboring gene Sharpr-MPRA regulatory region 1474 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9011 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:100405395-100406594 Neighboring gene uncharacterized LOC102724682 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100412450-100413378 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100416877-100417378 Neighboring gene RNA, U1 small nuclear 47, pseudogene Neighboring gene voltage dependent anion channel 3 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ45033

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables microtubule binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables microtubule binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables tubulin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in brain development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in brain development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in hematopoietic progenitor cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in microtubule cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in microtubule cytoskeleton organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in mitotic spindle organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neuroblast proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in microtubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of microtubule associated complex TAS
    Traceable Author Statement
    more info
    PubMed 
    colocalizes_with microtubule cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with mitotic spindle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    colocalizes_with mitotic spindle midzone ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    colocalizes_with mitotic spindle pole ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    echinoderm microtubule-associated protein-like 1
    Names
    echinoderm microtubule associated protein like 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_052827.1 RefSeqGene

      Range
      60715..209362
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001008707.2NP_001008707.1  echinoderm microtubule-associated protein-like 1 isoform a

      See identical proteins and their annotated locations for NP_001008707.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AF035276, BC032541, BC033043, BX247979, BX420178, BX442035
      Consensus CDS
      CCDS32154.1
      UniProtKB/TrEMBL
      B3KXA3
      Related
      ENSP00000334314.4, ENST00000334192.8
      Conserved Domains (4) summary
      COG2319
      Location:422833
      WD40; WD40 repeat [General function prediction only]
      pfam03451
      Location:204277
      HELP; HELP motif
      sd00039
      Location:482520
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:284672
      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_001375411.1NP_001362340.1  echinoderm microtubule-associated protein-like 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL133368, AL136000
      UniProtKB/TrEMBL
      F8W717
      Conserved Domains (3) summary
      sd00039
      Location:450488
      7WD40; WD40 repeat [structural motif]
      pfam03451
      Location:172245
      HELP; HELP motif
      cl29593
      Location:252640
      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_001375412.1NP_001362341.1  echinoderm microtubule-associated protein-like 1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL133368, AL136000
      UniProtKB/TrEMBL
      B3KXA3
      Conserved Domains (3) summary
      sd00039
      Location:374416
      7WD40; WD40 repeat [structural motif]
      pfam03451
      Location:185258
      HELP; HELP motif
      cl29593
      Location:265655
      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. NM_004434.3NP_004425.2  echinoderm microtubule-associated protein-like 1 isoform b

      See identical proteins and their annotated locations for NP_004425.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AF035276, BC032541, BC033043, BX420178, BX442035
      Consensus CDS
      CCDS32155.1
      UniProtKB/Swiss-Prot
      O00423, Q86U15, Q8N536, Q8N5C4, Q8WWL6
      UniProtKB/TrEMBL
      B3KXA3
      Related
      ENSP00000262233.7, ENST00000262233.11
      Conserved Domains (4) summary
      COG2319
      Location:403814
      WD40; WD40 repeat [General function prediction only]
      pfam03451
      Location:185258
      HELP; HELP motif
      sd00039
      Location:463501
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:265653
      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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      99737722..99942060
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005267398.3XP_005267455.1  echinoderm microtubule-associated protein-like 1 isoform X3

      UniProtKB/TrEMBL
      F8W717
      Conserved Domains (4) summary
      COG2319
      Location:409820
      WD40; WD40 repeat [General function prediction only]
      pfam03451
      Location:191264
      HELP; HELP motif
      sd00039
      Location:469507
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:271659
      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_047431068.1XP_047287024.1  echinoderm microtubule-associated protein-like 1 isoform X7

      UniProtKB/TrEMBL
      F8W717
    3. XM_005267397.2XP_005267454.1  echinoderm microtubule-associated protein-like 1 isoform X2

      UniProtKB/TrEMBL
      B3KXA3
      Conserved Domains (4) summary
      COG2319
      Location:422833
      WD40; WD40 repeat [General function prediction only]
      pfam03451
      Location:204277
      HELP; HELP motif
      sd00039
      Location:482520
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:284672
      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_011536540.3XP_011534842.1  echinoderm microtubule-associated protein-like 1 isoform X4

      UniProtKB/TrEMBL
      A0A3B3IU69
      Related
      ENSP00000498100.1, ENST00000649352.1
      Conserved Domains (4) summary
      COG2319
      Location:409820
      WD40; WD40 repeat [General function prediction only]
      pfam03451
      Location:191264
      HELP; HELP motif
      sd00039
      Location:469507
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:271659
      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_047431067.1XP_047287023.1  echinoderm microtubule-associated protein-like 1 isoform X6

      UniProtKB/TrEMBL
      A0A3B3IU69
    6. XM_005267399.4XP_005267456.2  echinoderm microtubule-associated protein-like 1 isoform X1

      UniProtKB/TrEMBL
      A0A3B3IU69
      Conserved Domains (4) summary
      COG2319
      Location:428839
      WD40; WD40 repeat [General function prediction only]
      pfam03451
      Location:210283
      HELP; HELP motif
      sd00039
      Location:488526
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:290678
      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_011536542.4XP_011534844.1  echinoderm microtubule-associated protein-like 1 isoform X5

      UniProtKB/TrEMBL
      A0A3B3IU69
      Conserved Domains (4) summary
      COG2319
      Location:348795
      WD40; WD40 repeat [General function prediction only]
      pfam03451
      Location:210283
      HELP; HELP motif
      sd00039
      Location:399441
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:290680
      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_024449507.1XP_024305275.1  echinoderm microtubule-associated protein-like 1 isoform X8

      Conserved Domains (3) summary
      sd00039
      Location:275313
      7WD40; WD40 repeat [structural motif]
      pfam03451
      Location:170
      HELP; HELP motif
      cl25539
      Location:77465
      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 ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      93969151..94174609
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375547.1XP_054231522.1  echinoderm microtubule-associated protein-like 1 isoform X3

      UniProtKB/TrEMBL
      F8W717
    2. XM_054375551.1XP_054231526.1  echinoderm microtubule-associated protein-like 1 isoform X7

      UniProtKB/TrEMBL
      F8W717
    3. XM_054375546.1XP_054231521.1  echinoderm microtubule-associated protein-like 1 isoform X2

      UniProtKB/TrEMBL
      B3KXA3
    4. XM_054375548.1XP_054231523.1  echinoderm microtubule-associated protein-like 1 isoform X4

      UniProtKB/TrEMBL
      A0A3B3IU69
    5. XM_054375550.1XP_054231525.1  echinoderm microtubule-associated protein-like 1 isoform X6

      UniProtKB/TrEMBL
      A0A3B3IU69
    6. XM_054375545.1XP_054231520.1  echinoderm microtubule-associated protein-like 1 isoform X1

      UniProtKB/TrEMBL
      A0A3B3IU69
    7. XM_054375549.1XP_054231524.1  echinoderm microtubule-associated protein-like 1 isoform X5

      UniProtKB/TrEMBL
      A0A3B3IU69
    8. XM_054375552.1XP_054231527.1  echinoderm microtubule-associated protein-like 1 isoform X8