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EML1 EMAP like 1 [ Homo sapiens (human) ]

Gene ID: 2009, updated on 5-Sep-2021

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
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
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Genomic context

See EML1 in Genome Data Viewer
Location:
14q32.2
Exon count:
27
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (99737722..99942060)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (100204059..100408397)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 4550 Neighboring gene HHIP like 1 Neighboring gene cytochrome P450 family 46 subfamily A member 1 Neighboring gene uncharacterized LOC102724682 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: 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

  • 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
PubMed 
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
PubMed 
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 IEA
Inferred from Electronic Annotation
more info
 
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
PubMed 
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)

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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_001008707.2NP_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/Swiss-Prot
    O00423
    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
    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
    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
    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: 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_000014.9 Reference GRCh38.p13 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

    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_011536541.1XP_011534843.1  echinoderm microtubule-associated protein-like 1 isoform X5

    Conserved Domains (4) summary
    COG2319
    Location:391802
    WD40; WD40 repeat [General function prediction only]
    pfam03451
    Location:173246
    HELP; HELP motif
    sd00039
    Location:451489
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:253641
    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_005267397.1XP_005267454.1  echinoderm microtubule-associated protein-like 1 isoform X2

    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_011536540.2XP_011534842.1  echinoderm microtubule-associated protein-like 1 isoform X4

    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_011536542.3XP_011534844.1  echinoderm microtubule-associated protein-like 1 isoform X7

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

    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_024449507.1XP_024305275.1  echinoderm microtubule-associated protein-like 1 isoform X9

    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 ...
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