EML1 - EMAP like 1 Gene

中文名称：EMAP 样 1

种属: Homo sapiens

同用名: BH; EMAP; ELP79; EMAPL; EMAP-1

基因 ID: 2009 | 基因类型: protein coding

关于 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.

功能概要

人类棘皮动物微管相关蛋白样是亚瑟综合症 1A 型基因的有力候选者。 Usher 综合征 (USH) 是一组遗传性疾病，包括先天性耳聋、视网膜色素变性和前庭功能障碍，其发病和严重程度因遗传类型而异。 USHs 的疾病过程涉及整个大脑，并不局限于后颅窝或听觉和视觉系统。 USH 分为 I 型 (USH1A、USH1B、USH1C、USH1D、USH1E 和 USH1F) 、II 型 (USH2A 和 USH2B) 和 III 型 (USH3) 。 I 型是最严重的形式。负责这三种类型的基因位点都已映射。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供，2008 年 7 月]

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 基因产物(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 蛋白结构

HELP

WD40

0
200
400
600
815 a.a.

蛋白主名

其他名称

echinoderm microtubule-associated protein-like 1

echinoderm microtubule associated protein like 1

EML1 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	EML1	O00423	STIP1	Homo sapiens	P31948	Y2H Pooling	32814053
种属内	EML1	O00423	STIP1	Homo sapiens	P31948	Validated Y2H	32814053
种属内	EML1	O00423	STIP1	Homo sapiens	P31948	Y2H Array	32814053
种属内	EML1	O00423	LAMP2	Homo sapiens	P13473-2	Y2H Pooling	32814053
种属内	EML1	O00423	LAMP2	Homo sapiens	P13473-2	Validated Y2H	32814053
种属内	EML1	O00423	LAMP2	Homo sapiens	P13473-2	Y2H Array	32814053
种属内	EML1	O00423	NUDC	Homo sapiens	Q9Y266	Anti Tag CoIP	33961781
种属内	EML1	O00423	FXR1	Homo sapiens	P51114	Anti Tag CoIP	21653829
种属内	EML1	O00423	FXR1	Homo sapiens	P51114	Y2H Pooling	21653829
种属内	EML1	O00423	CASP6	Homo sapiens	P55212	Validated Y2H	32814053
种属内	EML1	O00423	CASP6	Homo sapiens	P55212	Y2H Pooling	32814053
种属内	EML1	O00423	CASP6	Homo sapiens	P55212	Y2H Array	32814053
种属内	EML1	O00423	ISG20L2	Homo sapiens	Q9H9L3	Y2H Pooling	19060904
种属内	EML1	O00423	ISG20L2	Homo sapiens	Q9H9L3	Y2H Array	19060904
种属内	EML1	O00423	ISG20L2	Homo sapiens	Q9H9L3	Y2H Pooling	16189514

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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.	产品名	作用方式	纯度	是否罕见病
HY-RS04353	EML1 Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS18238	Eml1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS24148	Eml2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS24717	Eml1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 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

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

EML1 - EMAP like 1 Gene

关于 EML1

功能概要

EML1 基因产物(4)

EML1 蛋白结构

EML1 蛋白互作信息

关联疾病

直系同源

热门区域

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EML1 - EMAP like 1 Gene

关于 EML1

功能概要

EML1 基因产物(4)

EML1 蛋白结构

EML1 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z