LHX1 - LIM homeobox 1 Gene

中文名称：LIM 同源框 1

种属: Homo sapiens

同用名: LIM1; LIM-1

基因 ID: 3975 | 基因类型: protein coding

关于 LHX1

Cytogenetic location: 17q12 Genomic coordinates (GRCh38): 17:36,936,785-36,944,612 (from NCBI)

This gene has 6 transcripts (splice variants), 1 gene allele, 127 orthologues, 20 paralogues and is associated with 1 phenotype. Restricted expression toward kidney (RPKM 4.6).

功能概要

该基因编码一个大型蛋白质家族的成员，该家族包含 LIM 结构域，这是一个独特的富含半胱氨酸的锌结合结构域。编码的蛋白质是一种转录因子，对肾脏和泌尿生殖系统的发育很重要。该基因是 Mayer-Rokitansky-Kuster-Hauser 综合征的候选基因，这是一种以女性生殖道异常为特征的疾病。[RefSeq 提供，2010 年 12 月]

This gene encodes a member of a large protein family which contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor important for the development of the renal and urogenital systems. This gene is a candidate for Mayer-Rokitansky-Kuster-Hauser syndrome, a disorder characterized by anomalies in the female genital tract. [provided by RefSeq, Dec 2010]

LHX1 基因产物(1)

mRNA	Protein	Name
NM_005568.5	NP_005559.2	LIM/homeobox protein Lhx1

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
enables sequence-specific double-stranded DNA binding	IDA IDA: 通过直接分析推断	28473536	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

LHX1 蛋白结构

LIM

Homeobox

0
100
200
300
406 a.a.

蛋白主名

其他名称

LIM/homeobox protein Lhx1

LIM homeobox protein 1

LHX1 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
Intra	LHX1	P48742	LDB1	Homo sapiens	Q86U70-2	Validated Y2H	32296183
Intra	LHX1	P48742	KANK2	Homo sapiens	Q63ZY3	Validated Y2H	32296183
Intra	LHX1	P48742	C2CD6	Homo sapiens	Q53TS8	Validated Y2H	32296183
Intra	LHX1	P48742	SCNM1	Homo sapiens	Q9BWG6	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

Chromosome 17q12 Deletion Syndrome

17q12 Microdeletion Syndrome	Del(17)(Q12)
Monosomy 17q12

Mayer-Rokitansky-Kuster-Hauser Syndrome

Mrkh Syndrome	Rokitansky Syndrome
Mullerian Aplasia	Mrkh Anomaly
Congenital Absence Of Uterus And Vagina	Congenital Absence Of The Uterus And Vagina
Genital Renal Ear Syndrome	Mayer-Rokitansky-Küster-Hauser Syndrome
Mullerian Dysgenesis	Müllerian Agenesis
Rokitansky Kuster Hauser Syndrome	MRKH
Mullerian Aplasia/Dysgenesis	Von Mayer-Rokitansky-Kuster Anomaly
Mrk Anomaly	Uterus Bipartitus Solidus Rudimentarius Cum Vagina Solida
Cauv	Mullerian Agenesis
Aplasia Of The Mullerian Ducts	Mullerian Duct Failure
Müllerian Aplasia	Rokitansky-Kuster-Hauser Syndrome
RKH SYNDROME

Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies

Murcs Association	Mayer-Rokitansky-Kuster-Hauser Syndrome Type 2
Mrkh Syndrome Type 2	Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
MURCS	Klippel-Feil Deformity, Conductive Deafness, And Absent Vagina
Atypical Mrkh Syndrome	Mullerian Duct Aplasia-Renal Dysplasia-Cervical Somite Anomalies Syndrome
Mayer-Rokitansky-Kuster-Hauser Syndrome, Type Ii	Mrkh, Type Ii
Mullerian Duct Aplasia, Unilateral Renal Aplasia, And Cervicothoracic Somite Dysplasia	Klippel-Feil Deformity - Conductive Deafness - Absent Vagina
Müllerian Aplasia - Renal Aplasia - Cervicothoracic Somite Dysplasia

Mullerian Aplasia And Hyperandrogenism

Mullerian Duct Failure And Hyperandrogenism	Wnt4 Deficiency
Müllerian Aplasia And Hyperandrogenism	Biason-Lauber Syndrome
Mayer-Rokitansky-Küster-Hauser-Biason-Lauber Syndrome	Mayer-Rokitansky-Küster-Hauser-Like Syndrome
Müllerian Duct Failure	Wnt4 Müllerian Aplasia
Wnt4 Müllerian Aplasia And Ovarian Dysfunction	MULLAPL
Wnt4 Mullerian Aplasia And Ovarian Dysfunction

Chromosome 17q12 Duplication Syndrome

17q12 Microduplication Syndrome	Trisomy 17q12
17q12 Duplication	17q12 Microduplication
Dup(17)(Q12)	Recurrent Duplication Of 17q12
17q12 Duplication Syndrome	17q12 Recurrent Duplication

Ureterocele

Renal Hypoplasia

Renal Cysts And Diabetes Syndrome

RCAD	Mody5
Congenital Anomalies Of The Kidney And Urinary Tract With Diabetes	Cakut With Diabetes
Maturity-Onset Diabetes Of The Young Type 5	Tubulointerstitial Kidney Disease, Autosomal Dominant, 3
Adtkd3	Atypical Familial Juvenile Hyperuricemic Nephropathy
Atypical Fjhn	Familial Hypoplastic Glomerulocystic Kidney
Maturity-Onset Diabetes Of The Young, Type 5	Hyperuricemic Nephropathy, Familial Juvenile, Atypical
Fjhn, Atypical	Glomerulocystic Kidney Disease, Hypoplastic Type
Glomerulocystic Kidney, Familial Hypoplastic	Hypoplastic Type Glomerulocystic Kidney Disease
Glomerulocystic Kidney Disease Hypoplastic Type	Renal-Diabetes Mody5 Syndrome

Renal Hypodysplasia/Aplasia 1

Renal Agenesis	Renal Adysplasia
Renal Aplasia	RHDA1
Hereditary Renal Aplasia	Hra
Hereditary Urogenital Adysplasia	Hypodysplasia/Aplasia, Renal, Type 1
Congenital Absence Of Kidneys Syndrome	Congenital Absence Of Kidney
Aplastic Kidney

Duodenal Atresia

Duodenal Stenosis

Familial Duodenal Atresia

Cakut

Renal Or Urinary Tract Malformation	Congenital Anomalies Of Kidney And Urinary Tract
Congenital Anomaly Of Kidney And Urinary Tract	Congenital Anomalies Of The Kidney And Urinary Tract
Kidney And Urinary Tract, Anomalies, Congenital	Renal Hypodysplasia, Nonsyndromic, 1

Thrombocytopenia-Absent Radius Syndrome

Tar Syndrome	Radial Aplasia-Thrombocytopenia Syndrome
Absent Radii And Thrombocytopenia	TAR
Chromosome 1q21.1 Deletion Syndrome, 200-Kb	Thrombocytopenia Absent Radius Syndrome
Thrombocytopenia Absent Radii	Chromosome 1q21.1 Deletion Syndrome
Thrombocytopenia With Absent Radii Syndrome	Radial Aplasia-Amegakaryocytic Thrombocytopenia

Maturity-Onset Diabetes Of The Young

MODY	Maturity Onset Diabetes Mellitus In Young
Mason-Type Diabetes	Mason Type Diabetes
Maturity Onset Diabetes Of The Young	Mody Syndrome
Diabetes Of The Young, Maturity-Onset

Wilms Tumor 1

Nephroblastoma	Wilms Tumor
WT1	Wilms' Tumor
Bilateral Wilms Tumor	Wilms Tumor, Type 1
Wilms Tumor, Somatic	Adult Nephroblastoma
Wt1 Disorder	Renal Embryonic Tumor
Adult Kidney Wilms Tumor	Childhood Kidney Wilms Tumor
Nonanaplastic Kidney Wilms Tumor

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-RS07631	LHX1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	LHX1	VGNC	VGNC:30871
Mus musculus	LHX1	MGD	MGI:99783
Rattus norvegicus	LHX1	RGD	RGD:71074
Felis catus	LHX1	VGNC	VGNC:99183
Canis familiaris	LHX1	VGNC	VGNC:42662
Macaca mulatta	LHX1	VGNC	VGNC:82173

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