EN1 - engrailed homeobox 1 Gene

中文名称：同源框 1

种属: Homo sapiens

同用名: ENDOVESLB

基因 ID: 2019 | 基因类型: protein coding

关于 EN1

Cytogenetic location: 2q14.2 Genomic coordinates (GRCh38): 2:118,842,171-118,847,648 (from NCBI)

This gene has 2 transcripts (splice variants), 239 orthologues, 3 paralogues and is associated with 1 phenotype. Low expression observed in reference dataset.

功能概要

含有同源框的基因被认为在控制发育中起作用。在果蝇中，'engrailed' (en) 基因在分割发育过程中起着重要作用，它是形成后隔室所必需的。小鼠同系物 En1 和 En2 中的不同突变产生了不同的发育缺陷，这些缺陷通常是致命的。人类 engrailed 同系物 1 和 2 编码含有同源结构域的蛋白质，并且与中枢神经系统发育过程中模式形成的控制有关。[RefSeq 提供，2008 年 7 月]

Homeobox-containing genes are thought to have a role in controlling development. In Drosophila, the 'engrailed' (en) gene plays an important role during development in segmentation, where it is required for the formation of posterior compartments. Different mutations in the mouse homologs, En1 and En2, produced different developmental defects that frequently are lethal. The human engrailed homologs 1 and 2 encode homeodomain-containing proteins and have been implicated in the control of pattern formation during development of the central nervous system. [provided by RefSeq, Jul 2008]

EN1 基因产物(1)

mRNA	Protein	Name
NM_001426.4	NP_001417.3	homeobox protein engrailed-1

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA IDA: 通过直接分析推断	21672318	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: 通过直接分析推断	21672318	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: 通过直接分析推断	28473536	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: 通过直接分析推断	21672318	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in nucleus	IDA IDA: 通过直接分析推断	24399192	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

EN1 蛋白结构

Homeobox

Engrail_1_C_sig

0
100
200
300
392 a.a.

蛋白主名

其他名称

homeobox protein engrailed-1

engrailed homolog 1

EN1 抗体

目录号	产品名	应用	反应物种
HY-P82310	EN1 Antibody (YA2055)	WB, IP, FC	Human, Mouse, Rat

关联疾病

疾病名称

别名

Endove Syndrome, Limb-Brain Type

ENDOVESLB	Mesomelia Of Lower Extremities With Hand, Foot, And Brain Anomalies
Mlehfb

Eccrine Porocarcinoma

Porocarcinoma	Eccrine Porocarcinoma Of Skin
Malignant Eccrine Poroma

Endove Syndrome, Limb-Only Type

ENDOVESL	Mesomelia Of Lower Extremities With Hand And Foot Anomalies
Mlehf

Sudden Infant Death Syndrome

SIDS	Sudden Infant Death Syndrome, Susceptibility To
Cot Death	Crib Death
Sudden Death Of Nonspecific Cause In Infancy	Sudden Infant Death
Death, Sudden, Syndrome, Infant

Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures

MRD55	Mental Retardation, Autosomal Dominant 55, With Seizures
Autosomal Dominant Mental Retardation 55	Autosomal Dominant Intellectual Developmental Disorder 55
Autosomal Dominant Intellectual Developmental Disorder-55 With Seizures	Mental Retardation, Autosomal Dominant, Type 55, With Seizures

Congenital Central Hypoventilation Syndrome

Cchs	Haddad Syndrome
Ondine Curse	Ondine Syndrome
Congenital Central Hypoventilation	Congenital Central Alveolar Hypoventilation Syndrome
Congenital Failure Of Autonomic Control	Ondine'S Curse
Primary Alveolar Hypoventilation	Ondine-Hirschsprung Disease
Central Congenital Hypoventilation Syndrome	Congenital Ondine Curse
Idiopathic Congenital Central Alveolar Hypoventilation	Congenital Central Alveolar Hypoventilation-Hirschsprung Disease Syndrome
Ondine-Hirschsprung Syndrome

Arthrogryposis, Distal, Type 2a

Freeman-Sheldon Syndrome	Craniocarpotarsal Dystrophy
Craniocarpotarsal Dysplasia	DA2A
Whistling Face-Windmill Vane Hand Syndrome	Fss
Distal Arthrogryposis Type 2a	Whistling Face Syndrome
Freeman-Burian Syndrome	Arthrogryposis Distal Type 2a
Distal Arthrogryposis, Type 2a	Fbs
Arthrogryposis, Distal, 2a

Cerebellar Hypoplasia

Salivary Gland Adenoid Cystic Carcinoma

Cylindroma

Lesch-Nyhan Syndrome

Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency	LNS
Hprt Deficiency	Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency	X-Linked Hyperuricemia
Choreoathetosis Self-Mutilation Syndrome	Hprt1 Deficiency
Hprt Deficiency, Complete	Deficiency Of Imp Pyrophosphorylase
Hgprt Deficiency	Lesch-Nyhan Disease
Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency	Hg-Prt Deficiency
Hypoxanthine-Guanine-Phosphoribosyltransferase Deficiency	Lesch - Nyhan Syndrome
Hprt1 Disorders	Lesch Nyhan Syndrome
Complete Hprt Deficiency Complete	Lesch Nyhan Disease
Complete Hprt Deficiency	Deficiency Of Guanine Phosphoribosyltransferase
Deficiency Of Hypoxanthine Phosphoribosyltransferase	Hypoxanthine Phosphoribosyltransferase Deficiency
Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome	Juvenile Hyperuricemia Syndrome
Lnd	Primary Hyperuricemia Syndrome
Total Hprt Deficiency	Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency
X-Linked Primary Hyperuricemia	X-Linked Uric Aciduria Enzyme Defect
Hprt Complete Deficiency	Hprt Deficiency Grade Iv
Hypoxanthine Guanine Phosphoribosyltransferase Complete Deficiency	Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade Iv
Hypoxanthine-Guanine Phosphoribosyltransferase 1 Deficiency	Hprt - [ Hypoxanthine-Guanine Phosphoribosyltransferase] Complete Deficiency
Total Hgprt - [Hypoxanthine-Guanine Phosphoribosyltransferase] Deficiency

Parkinson Disease, Late-Onset

Parkinson Disease	Parkinson'S Disease
PD	PARK
Parkinson Disease, Susceptibility To	Late Onset Parkinson'S Disease
Late Onset Parkinson Disease	Paralysis Agitans
Primary Parkinsonism	Idiopathic Parkinson Disease
Parkinson'S	Parkinson Disease, Late-Onset, Susceptibility To
Parkinson Disease, Age Of Onset, Modifier	Lewy Body Parkinson Disease
Idiopathic Parkinson'S Disease	Pd - [Parkinson Disease]
Parkinson Disease Nos	Parkinson, Nos
Primary Parkinson Disease

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

相关产品

Pre-clinical Phase

生物活性分子 (41)

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-139298	L319		≥98.0%	否
HY-W010639	4-Penten-1-ol		99.78%	否
HY-W015515	L-Citronellol		99.92%	否
HY-W000981	1-Cyclopentenylboronic acid		≥97.0%	否
HY-46575	(R)-2-(But-3-en-1-yl)oxirane	Control	99.79%	否
HY-34409	3-Methyl-2-butenal		97.30%	否
HY-W016976	Allyl heptanoate		≥95.0%	否
HY-139456S	1-(4-Aza-8-hydroxy-6-oxo)oct-2-en-1-oylimidazole-d3		/	否
HY-CE00800A	3-(4-Methylpent-3-en-1-yl)pent-2-enedioyl-CoA		/	否
HY-CE00868	3-Hydroxy-3-(4-methylpent-3-en-1-yl)glutaryl-CoA		/	否
HY-N12135	15α-Hydroxy-20-oxo-6,7-seco-ent-kaur-16-en-1,7α(6,11α)-diolide		/	否
HY-N1873	(E)-4-(3,4-Dimethoxyphenyl)but-3-en-1-ol		/	否
HY-N2296	(2R,3R)-3,7-Dihydroxy-2-(4-hydroxyphenyl)-5-methoxy-8-(3-methylbut-2-en-1-yl)chroman-4-one		/	否
HY-RS04365	EN1 Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-W015936	(E)-Hex-2-en-1-ol		99.96%	否
HY-W017558	(Z)-Non-6-en-1-ol		/	否
HY-W127449	trans-2-Nonen-1-ol		/	否
HY-W283271	3-Methylcyclohex-2-en-1-ol		/	否
HY-Y0400S	2-Bromoethylammonium-d4 bromide		/	否
HY-Z2289S1	(S)-Ibrutinib-d4		/	否
HY-165707	3-(((Z)-Octadec-9-en-1-yl)oxy)propane-1,2-diyl dioleate		/	否
HY-165708	7(E)-Nonadecenol		/	否
HY-165708A	(Z)-Nonadec-7-en-1-ol		/	否
HY-165728	(Z)-Octadec-9-en-1-yl methylglycinate		/	否
HY-165841	11(E)-Octadecenol		/	否
HY-165883	15(Z)-Tetracosenol		/	否
HY-165894	Myristoleyl behenate		/	否
HY-166005	Myristoleyl laurate		/	否
HY-166006	Myristoleyl myristate		/	否
HY-N12898	(Z)-Tetradec-7-en-1-ol	Activator	/	否
HY-N9018	4-(6-Methyl-4-oxohept-5-en-2-yl)cyclohex-2-en-1-one		/	否
HY-RS17866	En1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS24335	En1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-W008836S	(E)-Hex-3-en-1-ol-d2		/	否
HY-W026038	(Z)-Non-2-en-1-ol		/	否
HY-W142921S	Allyl methyl disulfide-d3		/	否
HY-W190911	Cyclooct-4-en-1-yl(2-(2-(2-hydroxyethoxy)ethoxy)ethyl)carbamate		/	否
HY-W319939	3-(4-Hydroxy-3-methoxyphenyl)-1-(2-hydroxyphenyl)prop-2-en-1-one	Modulator	/	否
HY-W654395	Methyl jasmonate-d5 (mixture of diastereomers)		/	否
HY-W838865	11-Dodecenol		/	否
HY-W923632	(Z)-Tetradec-9-en-1-ol		/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	EN1	RGD	RGD:1595088
Mus musculus	EN1	MGD	MGI:95389
Bos taurus	EN1	VGNC	VGNC:28487
Felis catus	EN1	VGNC	VGNC:107530
Canis familiaris	EN1	VGNC	VGNC:54804
Macaca mulatta	EN1	VGNC	VGNC:104525
Others	EN1	NCBI

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