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LHX1 - LIM homeobox 1 Gene

Also Known as LIM1; LIM-1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3975

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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07631	LHX1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21365	Lhx1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27884	Lhx1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	LHX1	NCBI