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    EML1 EMAP like 1 [ Homo sapiens (human) ]

    Gene ID: 2009, updated on 7-Apr-2024

    Summary

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    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
    mouse all
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    Genomic context

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    Location:
    14q32.2
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (99737722..99942060)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (93969151..94174609)
    105.20220307 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

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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. Human cerebral organoids reveal progenitor pathology in EML1-linked cortical malformation. Jabali A, et al. EMBO Rep, 2022 May 4. PMID 35289477, Free PMC Article
    2. A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects. Markus F, et al. J Hum Genet, 2021 Dec. PMID 34211111, Free PMC Article
    3. EML1-associated brain overgrowth syndrome with ribbon-like heterotopia. Oegema R, et al. Am J Med Genet C Semin Med Genet, 2019 Dec. PMID 31710781, Free PMC Article
    4. Volumetric neuroimaging in Usher syndrome: evidence of global involvement. Schaefer GB, et al. Am J Med Genet, 1998 Aug 27. PMID 9738858
    5. Isolation of a novel human homologue of the gene coding for echinoderm microtubule-associated protein (EMAP) from the Usher syndrome type 1a locus at 14q32. Eudy JD, et al. Genomics, 1997 Jul 1. PMID 9226380

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Human cerebral organoids reveal progenitor pathology in EML1-linked cortical malformation.
      Title: Human cerebral organoids reveal progenitor pathology in EML1-linked cortical malformation.
    2. A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects.
      Title: A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects.
    3. Mutations in the Heterotopia Gene Eml1/EML1 Severely Disrupt the Formation of Primary Cilia.
      Title: Mutations in the Heterotopia Gene Eml1/EML1 Severely Disrupt the Formation of Primary Cilia.
    4. biallelic EML1 disease-causing variants cause a highly specific pattern of congenital brain malformations, severe developmental delay, seizures and visual impairment
      Title: EML1-associated brain overgrowth syndrome with ribbon-like heterotopia.
    5. a homozygous truncating variant in EML1 is a novel cause of congenital hydrocephalus.
      Title: The genetic landscape of familial congenital hydrocephalus.
    6. We show that the trimerization domain (TD) of EML1 is necessary and sufficient for self-association. The TD is also essential for MT binding; however, this property requires an adjacent basic region.
      Title: Microtubule association of EML proteins and the EML4-ALK variant 3 oncoprotein require an N-terminal trimerization domain.
    7. We found EML1 to be mutated in ribbon-like heterotopia in humans
      Title: Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human.
    8. determined a 2.6-A crystal structure of the representative approximately 70-kDa core of EML1, revealing an intimately associated pair of beta-propellers, which we term a TAPE (tandem atypical propeller in EMLs) domain
      Title: Crystal structure of EML1 reveals the basis for Hsp90 dependence of oncogenic EML4-ALK by disruption of an atypical β-propeller domain.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: A large-scale candidate gene association study of age at menarche and age at natural menopause.
    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

    Associated conditions

    Description Tests
    Band heterotopia of brain
    MedGen: C4284594 OMIM: 600348 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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

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

    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.

    Genomic

    1. NG_052827.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001008707.2 → NP_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:422 → 833
      WD40; WD40 repeat [General function prediction only]
      pfam03451
      Location:204 → 277
      HELP; HELP motif
      sd00039
      Location:482 → 520
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:284 → 672
      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_001375411.1 → NP_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:450 → 488
      7WD40; WD40 repeat [structural motif]
      pfam03451
      Location:172 → 245
      HELP; HELP motif
      cl29593
      Location:252 → 640
      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_001375412.1 → NP_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:374 → 416
      7WD40; WD40 repeat [structural motif]
      pfam03451
      Location:185 → 258
      HELP; HELP motif
      cl29593
      Location:265 → 655
      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_004434.3 → NP_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:403 → 814
      WD40; WD40 repeat [General function prediction only]
      pfam03451
      Location:185 → 258
      HELP; HELP motif
      sd00039
      Location:463 → 501
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:265 → 653
      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_2023_10

    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_005267398.3 → XP_005267455.1  echinoderm microtubule-associated protein-like 1 isoform X3

      UniProtKB/TrEMBL
      F8W717
      Conserved Domains (4) summary
      COG2319
      Location:409 → 820
      WD40; WD40 repeat [General function prediction only]
      pfam03451
      Location:191 → 264
      HELP; HELP motif
      sd00039
      Location:469 → 507
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:271 → 659
      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_047431068.1 → XP_047287024.1  echinoderm microtubule-associated protein-like 1 isoform X7

    3. XM_005267397.2 → XP_005267454.1  echinoderm microtubule-associated protein-like 1 isoform X2

      UniProtKB/TrEMBL
      B3KXA3
      Conserved Domains (4) summary
      COG2319
      Location:422 → 833
      WD40; WD40 repeat [General function prediction only]
      pfam03451
      Location:204 → 277
      HELP; HELP motif
      sd00039
      Location:482 → 520
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:284 → 672
      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_011536540.3 → XP_011534842.1  echinoderm microtubule-associated protein-like 1 isoform X4

      UniProtKB/TrEMBL
      A0A3B3IU69
      Related
      ENSP00000498100.1, ENST00000649352.1
      Conserved Domains (4) summary
      COG2319
      Location:409 → 820
      WD40; WD40 repeat [General function prediction only]
      pfam03451
      Location:191 → 264
      HELP; HELP motif
      sd00039
      Location:469 → 507
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:271 → 659
      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_047431067.1 → XP_047287023.1  echinoderm microtubule-associated protein-like 1 isoform X6

    6. XM_005267399.4 → XP_005267456.2  echinoderm microtubule-associated protein-like 1 isoform X1

      UniProtKB/TrEMBL
      A0A3B3IU69
      Conserved Domains (4) summary
      COG2319
      Location:428 → 839
      WD40; WD40 repeat [General function prediction only]
      pfam03451
      Location:210 → 283
      HELP; HELP motif
      sd00039
      Location:488 → 526
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:290 → 678
      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_011536542.4 → XP_011534844.1  echinoderm microtubule-associated protein-like 1 isoform X5

      UniProtKB/TrEMBL
      A0A3B3IU69
      Conserved Domains (4) summary
      COG2319
      Location:348 → 795
      WD40; WD40 repeat [General function prediction only]
      pfam03451
      Location:210 → 283
      HELP; HELP motif
      sd00039
      Location:399 → 441
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:290 → 680
      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_024449507.1 → XP_024305275.1  echinoderm microtubule-associated protein-like 1 isoform X8

      Conserved Domains (3) summary
      sd00039
      Location:275 → 313
      7WD40; WD40 repeat [structural motif]
      pfam03451
      Location:1 → 70
      HELP; HELP motif
      cl25539
      Location:77 → 465
      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_054375547.1 → XP_054231522.1  echinoderm microtubule-associated protein-like 1 isoform X3

    2. XM_054375551.1 → XP_054231526.1  echinoderm microtubule-associated protein-like 1 isoform X7

    3. XM_054375546.1 → XP_054231521.1  echinoderm microtubule-associated protein-like 1 isoform X2

    4. XM_054375548.1 → XP_054231523.1  echinoderm microtubule-associated protein-like 1 isoform X4

    5. XM_054375550.1 → XP_054231525.1  echinoderm microtubule-associated protein-like 1 isoform X6

    6. XM_054375545.1 → XP_054231520.1  echinoderm microtubule-associated protein-like 1 isoform X1

    7. XM_054375549.1 → XP_054231524.1  echinoderm microtubule-associated protein-like 1 isoform X5

    8. XM_054375552.1 → XP_054231527.1  echinoderm microtubule-associated protein-like 1 isoform X8

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O00423.3 GenPept UniProtKB/Swiss-Prot:O00423

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