LHX1 (LIM homeobox 1)

2011-06-01  

Identity

HGNC
LHX1
LOCATION
17q12
LOCUSID
3975
ALIAS
LIM-1,LIM1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3975
MIM: 601999
HGNC: 6593
Ensembl: ENSG00000273706

Variants:

dbSNP: 3975
ClinVar: 3975
TCGA: ENSG00000273706
COSMIC: LHX1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000273706ENST00000614239P48742
ENSG00000273706ENST00000621767A0A087WY40

Expression (GTEx)

0
10
20
30
40
50
60
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
239540212013TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasia.19
228750242012Functional genomics identifies drivers of medulloblastoma dissemination.17
227404942012Frame shift mutation of LHX1 is associated with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome.11
211320092011LIM-class homeobox gene Lim1, a novel oncogene in human renal cell carcinoma.7
286001062017Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a large cohort of families.6
280614322017Identification and functional analysis of a novel LHX1 mutation associated with congenital absence of the uterus and vagina.4
300764152019The Lim1 oncogene as a new therapeutic target for metastatic human renal cell carcinoma.4
222179642012LHX1 mutation screening in 96 patients with müllerian duct abnormalities.3
198498682009The role of genes in the development of Mullerian anomalies: where are we today?2
222319132012Lim1/LIM1 is expressed in developing and adult mouse and human endometrium.2

Citation

Dessen P

LHX1 (LIM homeobox 1)

Atlas Genet Cytogenet Oncol Haematol. 2011-06-01

Online version: http://atlasgeneticsoncology.org/gene/43146/lhx1