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FLASH GENE

Symbol

LHX1

contributors: mct - updated : 25-11-2013

HGNC name	LIM homeobox 1
HGNC id	6593

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DEL17Q12 chromosome 17q12 microdeletion
Location	17q12      Physical location : 35.294.498 - 35.300.494
Synonym name	LIM homeobox protein 1
	LIM/homeobox protein Lhx1
Synonym symbol(s)	LIMK4, LIM-1, LIM1, MGC126723, MGC138141

DNA

TYPE	functioning gene
STRUCTURE	7.14 kb     5 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005568 5 - 3431 NP_005559 - 406 - 2007 17664423

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol blood / hematopoietic thymus         Endocrine thyroid       highly Nervous brain hindbrain cerebellum       nerve cranial nerve     highly Reproductive female system ovary     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Lymphoid

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, fetal

Text	expressed in the developing Purkinje cells
	expressed early in the intermediate mesoderm and is one of the first genes to be expressed in the nephric mesenchyme
	expressed in postmitotic, differentiating, and mature retinal horizontal cells

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two N terminal cysteine-rich LIM/double zinc finger motifs
	an helix-turn-helix, DNA binding domain (homeodomain)
	a proline rich region

conjugated

HOMOLOGY

Homologene

FAMILY

CATEGORY

transcription factor , protooncogene

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	involved in transcriptional regulation of neural and lymphoid cells
	playing an essential role for controlling Purkinje cell differentiation in the developing mammalian cerebellum
	required for normal organogenesis, including nephrogenesis, by regulating cell movements, differentiation and growth
	acts as an oncogene in cancer cells
	essential role in driving specification of the entire kidney field from the intermediate mesoderm

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

development , neurogenesis

text	organogenesis; head organization

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA	binding (homeodomain)

RNA

small molecule

protein

OTX2 regulates DKK1 and LHX1 activity in the anterior mesendoderm

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DEL17Q12

Susceptibility

Variant & Polymorphism

Candidate gene	for aplasia of mullerian ducts
	for neurodevelopmental disorders in patients with del 17q12
Marker
Therapy target
	System Type Disorder Pubmed cancer urinary   targeting LHX1 may constitute an innovative therapeutic intervention in human clear cell renal cell carcinoma

ANIMAL & CELL MODELS

Mice with targeted mutation in the Hip1 gene (Hip1) develop a neurological phenotype characterized by failure to thrive, tremor, and gait ataxia