• Gene id: 3975

Gene Summary

• Gene Symbol: LHX1   Gene   UCSC   Ensembl
• Aliases: LIM-1, LIM1
• Gene name: LIM homeobox 1
• Alternate names: LIM/homeobox protein Lhx1, LIM homeobox protein 1, homeobox protein Lim-1,
• Gene location: 17q12 (36937474: 36944611)     Exons: 16     NC_000017.11
• Gene summary(Entrez): 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
• OMIM: 601999

Protein Summary

• Protein general information: P48742  
  • Name: LIM/homeobox protein Lhx1 (LIM homeobox protein 1) (Homeobox protein Lim 1) (hLim 1)
  • Length: 406  
  • Mass: 44808
  • Tissue specificity: Expressed in the brain, thymus, and tonsils. Expressed in samples from patients with chronic myeloid leukemia (CML) and in 58% of acute myeloid leukemia (AML) cell lines. {ECO
• Sequence:

  MVHCAGCKRPILDRFLLNVLDRAWHVKCVQCCECKCNLTEKCFSREGKLYCKNDFFRCFGTKCAGCAQGISPSDL
  VRRARSKVFHLNCFTCMMCNKQLSTGEELYIIDENKFVCKEDYLSNSSVAKENSLHSATTGSDPSLSPDSQDPSQ
  DDAKDSESANVSDKEAGSNENDDQNLGAKRRGPRTTIKAKQLETLKAAFAATPKPTRHIREQLAQETGLNMRVIQ
  VWFQNRRSKERRMKQLSALGARRHAFFRSPRRMRPLVDRLEPGELIPNGPFSFYGDYQSEYYGPGGNYDFFPQGP
  PSSQAQTPVDLPFVPSSGPSGTPLGGLEHPLPGHHPSSEAQRFTDILAHPPGDSPSPEPSLPGPLHSMSAEVFGP
  SPPFSSLSVNGGASYGNHLSHPPEMNEAAVW

• Structural information:
  • Protein Domains: (4..5-)
    1 (/note="LIM-zinc-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00125-)
    (63..11-)
    2 (/note="LIM-zinc-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00125"-)
  • Interpro: IPR009057  IPR017970  IPR001356  IPR001781  
  • Prosite: PS00027 PS50071 PS00478 PS50023
  • CDD: cd00086
  • STRING: ENSP00000477829
• Other Databases: GeneCards:  LHX1  Malacards:  LHX1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0030182	neuron differentiation	IBA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003700	DNA-binding transcription factor activity	NAS	molecular function
GO:0007399	nervous system development	TAS	biological process
GO:0009887	animal organ morphogenesis	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:2000768	positive regulation of nephron tubule epithelial cell differentiation	IEA	biological process
GO:2000543	positive regulation of gastrulation	IEA	biological process
GO:0097477	lateral motor column neuron migration	IEA	biological process
GO:0090009	primitive streak formation	IEA	biological process
GO:0072284	metanephric S-shaped body morphogenesis	IEA	biological process
GO:0072283	metanephric renal vesicle morphogenesis	IEA	biological process
GO:0072178	nephric duct morphogenesis	IEA	biological process
GO:0072077	renal vesicle morphogenesis	IEA	biological process
GO:0072049	comma-shaped body morphogenesis	IEA	biological process
GO:0060066	oviduct development	IEA	biological process
GO:0060059	embryonic retina morphogenesis in camera-type eye	IEA	biological process
GO:0060041	retina development in camera-type eye	IEA	biological process
GO:0048703	embryonic viscerocranium morphogenesis	IEA	biological process
GO:0048646	anatomical structure formation involved in morphogenesis	IEA	biological process
GO:0048382	mesendoderm development	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0040019	positive regulation of embryonic development	IEA	biological process
GO:0035852	horizontal cell localization	IEA	biological process
GO:0035846	oviduct epithelium development	IEA	biological process
GO:0032991	protein-containing complex	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0021937	cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation	IEA	biological process
GO:0021871	forebrain regionalization	IEA	biological process
GO:0021549	cerebellum development	IEA	biological process
GO:0021537	telencephalon development	IEA	biological process
GO:0021527	spinal cord association neuron differentiation	IEA	biological process
GO:0021510	spinal cord development	IEA	biological process
GO:0010842	retina layer formation	IEA	biological process
GO:0009953	dorsal/ventral pattern formation	IEA	biological process
GO:0009952	anterior/posterior pattern specification	IEA	biological process
GO:0009791	post-embryonic development	IEA	biological process
GO:0009653	anatomical structure morphogenesis	IEA	biological process
GO:0007492	endoderm development	IEA	biological process
GO:0007267	cell-cell signaling	IEA	biological process
GO:0006366	transcription by RNA polymerase II	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0001823	mesonephros development	IEA	biological process
GO:0001822	kidney development	IEA	biological process
GO:0001705	ectoderm formation	IEA	biological process
GO:0001702	gastrulation with mouth forming second	IEA	biological process
GO:0001657	ureteric bud development	IEA	biological process
GO:0001656	metanephros development	IEA	biological process
GO:0001655	urogenital system development	IEA	biological process
GO:0072284	metanephric S-shaped body morphogenesis	IEA	biological process
GO:0072278	metanephric comma-shaped body morphogenesis	IEA	biological process
GO:0072224	metanephric glomerulus development	IEA	biological process
GO:0044344	cellular response to fibroblast growth factor stimulus	IEA	biological process
GO:2000744	positive regulation of anterior head development	IEA	biological process
GO:0090190	positive regulation of branching involved in ureteric bud morphogenesis	IEA	biological process
GO:0072197	ureter morphogenesis	IEA	biological process
GO:0072050	S-shaped body morphogenesis	IEA	biological process
GO:0061205	paramesonephric duct development	IEA	biological process
GO:0060429	epithelium development	IEA	biological process
GO:0060322	head development	IEA	biological process
GO:0060068	vagina development	IEA	biological process
GO:0060067	cervix development	IEA	biological process
GO:0060065	uterus development	IEA	biological process
GO:0048793	pronephros development	IEA	biological process
GO:0035849	nephric duct elongation	IEA	biological process
GO:0035847	uterine epithelium development	IEA	biological process
GO:0032525	somite rostral/caudal axis specification	IEA	biological process
GO:0021702	cerebellar Purkinje cell differentiation	IEA	biological process
GO:0021517	ventral spinal cord development	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0009948	anterior/posterior axis specification	IEA	biological process
GO:0009880	embryonic pattern specification	IEA	biological process
GO:0008045	motor neuron axon guidance	IEA	biological process
GO:0007389	pattern specification process	IEA	biological process
GO:0005667	transcription regulator complex	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0001706	endoderm formation	IEA	biological process
GO:0001658	branching involved in ureteric bud morphogenesis	IEA	biological process
GO:0000987	cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0072177	mesonephric duct development	IEA	biological process
GO:0072164	mesonephric tubule development	IEA	biological process
GO:0035502	metanephric part of ureteric bud development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:2000543	positive regulation of gastrulation	ISS	biological process
GO:0097477	lateral motor column neuron migration	ISS	biological process
GO:0072049	comma-shaped body morphogenesis	ISS	biological process
GO:0060066	oviduct development	ISS	biological process
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0045892	negative regulation of transcription, DNA-templated	ISS	biological process
GO:0032991	protein-containing complex	ISS	cellular component
GO:0021549	cerebellum development	ISS	biological process
GO:0010842	retina layer formation	ISS	biological process
GO:0009952	anterior/posterior pattern specification	ISS	biological process
GO:0009653	anatomical structure morphogenesis	ISS	biological process
GO:0003700	DNA-binding transcription factor activity	ISS	molecular function
GO:0001705	ectoderm formation	ISS	biological process
GO:0001657	ureteric bud development	ISS	biological process
GO:0001655	urogenital system development	ISS	biological process
GO:2000744	positive regulation of anterior head development	ISS	biological process
GO:0090190	positive regulation of branching involved in ureteric bud morphogenesis	ISS	biological process
GO:0060322	head development	ISS	biological process
GO:0060067	cervix development	ISS	biological process
GO:0060065	uterus development	ISS	biological process
GO:0009948	anterior/posterior axis specification	ISS	biological process
GO:0009880	embryonic pattern specification	ISS	biological process
GO:0008045	motor neuron axon guidance	ISS	biological process
GO:0003714	transcription corepressor activity	ISS	molecular function
GO:0001706	endoderm formation	ISS	biological process
GO:2000768	positive regulation of nephron tubule epithelial cell differentiation	ISS	biological process
GO:0090009	primitive streak formation	ISS	biological process
GO:0072178	nephric duct morphogenesis	ISS	biological process
GO:0072077	renal vesicle morphogenesis	ISS	biological process
GO:0060059	embryonic retina morphogenesis in camera-type eye	ISS	biological process
GO:0048703	embryonic viscerocranium morphogenesis	ISS	biological process
GO:0048646	anatomical structure formation involved in morphogenesis	ISS	biological process
GO:0040019	positive regulation of embryonic development	ISS	biological process
GO:0035846	oviduct epithelium development	ISS	biological process
GO:0021937	cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation	ISS	biological process
GO:0021871	forebrain regionalization	ISS	biological process
GO:0021527	spinal cord association neuron differentiation	ISS	biological process
GO:0009953	dorsal/ventral pattern formation	ISS	biological process
GO:0009791	post-embryonic development	ISS	biological process
GO:0097379	dorsal spinal cord interneuron posterior axon guidance	ISS	biological process
GO:0007267	cell-cell signaling	ISS	biological process
GO:0006366	transcription by RNA polymerase II	ISS	biological process
GO:0001822	kidney development	ISS	biological process
GO:0001702	gastrulation with mouth forming second	ISS	biological process
GO:0072050	S-shaped body morphogenesis	ISS	biological process
GO:0061205	paramesonephric duct development	ISS	biological process
GO:0060429	epithelium development	ISS	biological process
GO:0060068	vagina development	ISS	biological process
GO:0035847	uterine epithelium development	ISS	biological process
GO:0021702	cerebellar Purkinje cell differentiation	ISS	biological process
GO:0010468	regulation of gene expression	ISS	biological process
GO:0007389	pattern specification process	ISS	biological process
GO:0005634	nucleus	ISS	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R