LBX1 - ladybird homeobox 1 Gene

中文名称：瓢虫同源盒 1

种属: Homo sapiens

同用名: HPX6; CCHS3; HPX-6; LBX1H; homeobox

基因 ID: 10660 | 基因类型: protein coding

关于 LBX1

Cytogenetic location: 10q24.32 Genomic coordinates (GRCh38): 10:101,226,994-101,229,463 (from NCBI)

This gene has 1 transcript (splice variant), 253 orthologues, 1 paralogue and is associated with 1 phenotype. Low expression observed in reference dataset.

功能概要

该基因和直系同源小鼠基因是通过它们与果蝇雌鸟早期和晚期同源框基因的同源性发现的。在小鼠中，该基因是肌肉前体细胞迁移的关键调节因子，并且是获得前肢肌肉背侧特征所必需的。[RefSeq 提供，2008 年 7 月]

This gene and the orthologous mouse gene were found by their homology to the Drosophila lady bird early and late homeobox genes. In the mouse, this gene is a key regulator of muscle precursor cell migration and is required for the acquisition of dorsal identities of forelimb muscles. [provided by RefSeq, Jul 2008]

LBX1 基因产物(1)

mRNA	Protein	Name
NM_006562.5	NP_006553.2	transcription factor LBX1

基因本体论

分子功能

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	32296183	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

LBX1 蛋白结构

Homeobox

0
100
200
281 a.a.

蛋白主名

其他名称

transcription factor LBX1

lady bird-like homeobox

LBX1 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	LBX1	P52954	FAM9B	Homo sapiens	Q8IZU0	Validated Y2H	32296183
种属内	LBX1	P52954	ZNF483	Homo sapiens	Q6P088	Validated Y2H	32296183
种属内	LBX1	P52954	TBCEL	Homo sapiens	Q5QJ74	Validated Y2H	32296183
种属内	LBX1	P52954	KRTAP5-6	Homo sapiens	Q6L8G9	Validated Y2H	32296183
种属内	LBX1	P52954	MAB21L3	Homo sapiens	Q8N8X9	Validated Y2H	32296183
种属内	LBX1	P52954	KRTAP9-2	Homo sapiens	Q9BYQ4	Validated Y2H	32296183
种属内	LBX1	P52954	WNK3	Homo sapiens	Q9BYP7	Validated Y2H	32296183
种属内	LBX1	P52954	KIFC3	Homo sapiens	Q9BVG8-5	Validated Y2H	32296183
种属内	LBX1	P52954	PRPF31	Homo sapiens	Q8WWY3	Validated Y2H	32296183
种属内	LBX1	P52954	KANK2	Homo sapiens	Q63ZY3	Validated Y2H	32296183
种属内	LBX1	P52954	QRICH1	Homo sapiens	Q2TAL8	Validated Y2H	32296183
种属内	LBX1	P52954	EIF5A	Homo sapiens	P63241	Validated Y2H	32296183
种属内	LBX1	P52954	TSSK3	Homo sapiens	Q96PN8	Validated Y2H	32296183
种属内	LBX1	P52954	AIPL1	Homo sapiens	Q9NZN9	Validated Y2H	32296183
种属内	LBX1	P52954	TMEM252	Homo sapiens	Q8N6L7	Validated Y2H	32296183

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

Central Hypoventilation Syndrome, Congenital, 3

CCHS3

Hypoventilation, Central, Syndrome, Congenital, Type 3

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

Split-Hand/Foot Malformation 3

SHFM3	Split Hand-Foot Malformation 3
Chromosome 10q24 Duplication Syndrome	Shsf3
Limb Deficiencies, Distal, With Micrognathia	Split-Hand/Foot Malformation 3, Gene Duplication Syndrome
Distal Limb Deficiencies With Micrognathia	Limb Deficiencies Distal With Micrognathia
Buttiens Fryns Syndrome	Distal Limb Deficiencies-Micrognathia Syndrome
10q24 Microduplication Syndrome	Buttiens-Fryns Syndrome
Split-Hand/Foot Malformation, Type 3, Gene Duplication Syndrome

Scoliosis

Idiopathic Scoliosis

Scoliosis Idiopathic

Split-Hand/Foot Malformation 4

SHFM4	Split Hand-Foot Malformation 4
Split-Hand/Foot Malformation, Type 4

Split Hand-Foot Malformation

Ectrodactyly	Split-Hand/Foot Malformation
Lobster-Claw Deformity	Split-Hand Deformity
Split Hand Foot Malformation	Shfm
Split Hand Foot Deformity	Split Hand Foot Deformity 1

Bone Structure Disease

Central Sleep Apnea

Central Sleep Apnea Syndrome	Sleep Apnea, Central
Primary Central Sleep Apnea	Central Sleep Apnea, Primary
Central Sleep Apnoea Syndrome	Csa - [Central Sleep Apnoea]
Csas - [Central Sleep Apnoea Syndrome]	Central Sleep Apnoea Due To Substances Including Medications

Brachydactyly, Type A2

Brachydactyly Type A2	BDA2
Mohr-Wriedt Type Brachydactyly	Brachymesophalangy Ii
Brachymesophalangy Type 2	Brachymesophalangy 2
Brachydactyly, Mohr-Wriedt Type	Brachydactyly A2

Hypotonia-Cystinuria Syndrome

Cystinuria With Mitochondrial Disease	2p21 Microdeletion Syndrome
HCS	Homozygous 2p16 Deletion Syndrome, Formerly
2p21 Deletion Syndrome	Del(2)(P21)
Monosomy 2p21	Atypical Hypotonia-Cystinuria Syndrome
Atypical Hcs

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

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-RS07546	LBX1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Mus musculus	LBX1	MGD	MGI:104867
Macaca mulatta	LBX1	VGNC	VGNC:106066
Rattus norvegicus	LBX1	RGD	RGD:1564197
Bos taurus	LBX1	VGNC	VGNC:30805
Canis familiaris	LBX1	VGNC	VGNC:42603

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