EML1 EMAP like 1 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Human cerebral organoids reveal progenitor pathology in EML1-linked cortical malformation.
Title: Human cerebral organoids reveal progenitor pathology in EML1-linked cortical malformation.
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.
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.
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.
a homozygous truncating variant in EML1 is a novel cause of congenital hydrocephalus.
Title: The genetic landscape of familial congenital hydrocephalus.
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.
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.
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.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10S275 (e-PCR)
- UniSTS:147992

D8S2279 (e-PCR)
- UniSTS:473907

SHGC-83453 (e-PCR)
- UniSTS:101945

A006W48 (e-PCR)
- UniSTS:23382

SHGC-82074 (e-PCR)
- UniSTS:103004

D14S957 (e-PCR)
- UniSTS:17257

WI-18369 (e-PCR)
- UniSTS:60014

D15S1477 (e-PCR)
- UniSTS:474482

G35545 (e-PCR)
- UniSTS:22650

SHGC-132135 (e-PCR)
- UniSTS:170666

D14S880 (e-PCR)
- UniSTS:62640

D14S849 (e-PCR)
- UniSTS:39101

D14S1344 (e-PCR)
- UniSTS:39102

RH11233 (e-PCR)
- UniSTS:80600

G59801 (e-PCR)
- UniSTS:136950

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

NG_052827.1 RefSeqGene

Range

60715..209362

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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 ...
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 ...
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 ...
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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000014.9 Reference GRCh38.p14 Primary Assembly

Range

99737722..99942060

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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 ...
XM_047431068.1 → XP_047287024.1 echinoderm microtubule-associated protein-like 1 isoform X7

UniProtKB/TrEMBL

F8W717
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 ...
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 ...
XM_047431067.1 → XP_047287023.1 echinoderm microtubule-associated protein-like 1 isoform X6

UniProtKB/TrEMBL

A0A3B3IU69
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 ...
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 ...
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

NC_060938.1 Alternate T2T-CHM13v2.0

Range

93969151..94174609

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

F8W717
XM_054375551.1 → XP_054231526.1 echinoderm microtubule-associated protein-like 1 isoform X7

UniProtKB/TrEMBL

F8W717
XM_054375546.1 → XP_054231521.1 echinoderm microtubule-associated protein-like 1 isoform X2

UniProtKB/TrEMBL

B3KXA3
XM_054375548.1 → XP_054231523.1 echinoderm microtubule-associated protein-like 1 isoform X4

UniProtKB/TrEMBL

A0A3B3IU69
XM_054375550.1 → XP_054231525.1 echinoderm microtubule-associated protein-like 1 isoform X6

UniProtKB/TrEMBL

A0A3B3IU69
XM_054375545.1 → XP_054231520.1 echinoderm microtubule-associated protein-like 1 isoform X1

UniProtKB/TrEMBL

A0A3B3IU69
XM_054375549.1 → XP_054231524.1 echinoderm microtubule-associated protein-like 1 isoform X5

UniProtKB/TrEMBL

A0A3B3IU69
XM_054375552.1 → XP_054231527.1 echinoderm microtubule-associated protein-like 1 isoform X8