LHFPL1 (LHFPL tetraspan subfamily member 1)

2016-10-01  

Identity

HGNC
LHFPL1
LOCATION
Xq23
LOCUSID
340596

Other Information

Locus ID:

NCBI: 340596
MIM: 300566
HGNC: 6587
Ensembl: ENSG00000182508

Variants:

dbSNP: 340596
ClinVar: 340596
TCGA: ENSG00000182508
COSMIC: LHFPL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000182508ENST00000371968Q86WI0

Expression (GTEx)

0
1
2
3
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
N/A

References

Pubmed IDYearTitleCitations
159053322005A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice.45
156202182004Isolation, tissue distribution and prokaryotic expression of a novel human X-linked gene LHFPL1.0

Citation

Dessen P

LHFPL1 (LHFPL tetraspan subfamily member 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56080/lhfpl1-(lhfpl-tetraspan-subfamily-member-1)