LHX1 - LIM homeobox 1 Gene

Homo sapiens

Also known as LIM1; LIM-1

Gene ID: 3975 | Gene type: protein coding

About 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).

Summary

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 Products(1)

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

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LHX1 Protein Structure

LIM

Homeobox

0
100
200
300
406 a.a.

Protein Preferred Names

Protein Names

LIM/homeobox protein Lhx1

LIM homeobox protein 1

LHX1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

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

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07631	LHX1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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