EML1 - EMAP like 1 Gene

Also Known as BH; EMAP; ELP79; EMAPL; EMAP-1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2009

About EML1

Cytogenetic location: 14q32.2 Genomic coordinates (GRCh38): 14:99,737,722-99,942,060 (from NCBI)

This gene has 22 transcripts (splice variants), 208 orthologues, 9 paralogues and is associated with 2 phenotypes. Ubiquitous expression in esophagus (RPKM 10.0), placenta (RPKM 9.2) and 24 other tissues.

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]

EML1 Products (4)

mRNA Protein Name
NM_001008707.2 NP_001008707.1 echinoderm microtubule-associated protein-like 1 isoform a
NM_001375411.1 NP_001362340.1 echinoderm microtubule-associated protein-like 1 isoform 3
NM_001375412.1 NP_001362341.1 echinoderm microtubule-associated protein-like 1 isoform 4
NM_004434.3 NP_004425.2 echinoderm microtubule-associated protein-like 1 isoform b

EML1 Protein Structure

HELP

HELP: HELP motif (183 - 260)

WD40

WD40: WD domain, G-beta repeat (264 - 289)

WD40

WD40: WD domain, G-beta repeat (538 - 571)

WD40

WD40: WD domain, G-beta repeat (619 - 653)

WD40

WD40: WD domain, G-beta repeat (666 - 699)

WD40

WD40: WD domain, G-beta repeat (776 - 812)

  • 0
  • 200
  • 400
  • 600
  • 815 a.a.
Protein Preferred Names Protein Names

echinoderm microtubule-associated protein-like 1

  • echinoderm microtubule associated protein like 1

EML1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
EML1 O00423 STIP1 Homo sapiens P31948
Y2H Pooling
32814053
Intra
EML1 O00423 STIP1 Homo sapiens P31948
Validated Y2H
32814053
Intra
EML1 O00423 STIP1 Homo sapiens P31948
Y2H Array
32814053
Intra
EML1 O00423 LAMP2 Homo sapiens P13473-2
Y2H Pooling
32814053
Intra
EML1 O00423 LAMP2 Homo sapiens P13473-2
Validated Y2H
32814053
Intra
EML1 O00423 LAMP2 Homo sapiens P13473-2
Y2H Array
32814053
Intra
EML1 O00423 NUDC Homo sapiens Q9Y266
Anti Tag CoIP
33961781
Intra
EML1 O00423 FXR1 Homo sapiens P51114
Anti Tag CoIP
21653829
Intra
EML1 O00423 FXR1 Homo sapiens P51114
Y2H Pooling
21653829
Intra
EML1 O00423 CASP6 Homo sapiens P55212
Validated Y2H
32814053
Intra
EML1 O00423 CASP6 Homo sapiens P55212
Y2H Pooling
32814053
Intra
EML1 O00423 CASP6 Homo sapiens P55212
Y2H Array
32814053
Intra
EML1 O00423 ISG20L2 Homo sapiens Q9H9L3
Y2H Pooling
19060904
Intra
EML1 O00423 ISG20L2 Homo sapiens Q9H9L3
Y2H Array
19060904
Intra
EML1 O00423 ISG20L2 Homo sapiens Q9H9L3
Y2H Pooling
16189514
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Band Heterotopia

  • Subcortical Band Heterotopia

  • Double Cortex Syndrome

  • Subcortical Laminar Heterotopia

  • Double Cortex

  • Band Heterotopia Of Brain

  • BH

  • Heco

  • Heterotopic Cortex

  • Familial Band Heterotopia

  • Dc

  • Dc Syndrome

  • Heterotopia, Subcortical Band

  • Sbh

  • Sclh

  • Bhy
Usher Syndrome

  • Deafness-Retinitis Pigmentosa Syndrome

  • Dystrophia Retinae Pigmentosa-Dysostosis Syndrome

  • Graefe-Usher Syndrome

  • Hallgren Syndrome

  • Usher'S Syndrome

  • Retinitis Pigmentosa-Deafness Syndrome

  • Retinitis Pigmentosa-Hearing Loss Syndrome

  • Ush

  • Usher Syndromes
Osteogenesis Imperfecta, Type Xxi

  • OI21

  • Osteogenesis Imperfecta Type 21

  • Osteogenesis Imperfecta, Type 21

  • Osteogenesis Imperfecta Type Xxi

  • Osteogenesis Imperfecta 21
Polymicrogyria

  • Pmg
Van Maldergem Syndrome

  • Van Maldergem Wetzburger Verloes Syndrome

  • Cerebro-Facio-Articular Syndrome

  • Cerebro-Facio-Articular Syndrome Of Van Maldergem

  • Cerebrofacioarticular Syndrome

  • Cerebro Facio Articular Syndrome

  • Van Maldergem-Wetzburger-Verloes Syndrome
Jejunal Neoplasm

  • Jejunal Tumor

  • Neoplasm Of Jejunum

  • Tumor Of Jejunum
Hydrocephalus

  • Hydrocephalus, Nonsyndromic, Autosomal Recessive

  • Hydrocephalus, X-Linked

  • Hydrocephalus Adverse Event

  • Hydrocephaly Nos
Benign Ileal Neoplasm

  • Ileal Tumor

  • Ileal Neoplasms

  • Ileal Neoplasm
Lissencephaly

  • Pachygyria

  • Broad Gyri Of Cerebrum

  • Large Gyri Of Cerebrum

  • Macrogyria
Periventricular Nodular Heterotopia

  • Periventricular Heterotopia

  • Pvnh

  • Familial Nodular Heterotopia

  • Heterotopia, Periventricular

  • Periventricular Heterotopia, X-Linked
Usher Syndrome, Type I

  • USH1

  • Usher Syndrome Type 1

  • Us1

  • Usher Syndrome, Type 1b

  • Usher Syndrome Type 1e

  • Retinitis Pigmentosa And Congenital Deafness

  • Usher Syndrome, Type Ie

  • USH1E

  • Usher Syndrome, Type 1e

  • Usher Syndrome, Type 1a

  • Usher Syndrome, Type Ib

  • Usher Syndrome Type 1b

  • Usher Syndrome Type Ie

  • Usher Syndrome Type I

  • Usher 1

  • Usher Syndrome, Type 1

  • Ush1a

  • Usher Syndrome, Type I, French Variety

  • Usher Syndrome, Type Ia

  • Usher Syndrome 1b

  • USH1B

  • Usher'S Syndrome Type 1b

  • Usher Syndrome Type Ib

  • Ushib
Alveolar Echinococcosis

  • Echinococcus Multilocularis Infection

  • Echinococcosis

  • Alveolococcosis

  • Multilocular Hydatid

  • Small Fox Tapeworm
Retinitis Pigmentosa

  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1
Congenital Nervous System Abnormality

  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS04353 EML1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS18238 Eml1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS24148 Eml2 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS24717 Eml1 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus EML1 MGD MGI:1915769
Felis catus EML1 VGNC VGNC:61848
Bos taurus EML1 VGNC VGNC:53936
Canis familiaris EML1 VGNC VGNC:40346
Macaca mulatta EML1 VGNC VGNC:72212
Rattus norvegicus EML1 RGD RGD:1306374
Others EML1 NCBI