EML1 - EMAP like 1 Gene

Homo sapiens

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

Gene ID: 2009 | Gene type: protein coding

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

WD40

0
200
400
600
815 a.a.

Protein Preferred Names

Protein Names

echinoderm microtubule-associated protein-like 1

echinoderm microtubule associated protein like 1

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04353	EML1 Human Pre-designed siRNA Set A		/	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