KLHL1 (kelch like family member 1)

2008-07-01 Affiliation

Identity

HGNC

KLHL1

LOCATION

13q21.33

LOCUSID

57626

ALIAS

MRP2

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 57626
MIM: 605332
HGNC: 6352
Ensembl: ENSG00000150361

Variants:

dbSNP: 57626
ClinVar: 57626
TCGA: ENSG00000150361
COSMIC: KLHL1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000150361	ENST00000377844	Q9NR64
ENSG00000150361	ENST00000545028	F5H1J3

Expression (GTEx)

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

References

Pubmed ID	Year	Title	Citations
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
18708037	2008	SCA8 mRNA expression suggests an antisense regulation of KLHL1 and correlates to SCA8 pathology.	15
20147652	2010	T-type current modulation by the actin-binding protein Kelch-like 1.	13
16982692	2006	KLHL1/MRP2 mediates neurite outgrowth in a glycogen synthase kinase 3beta-dependent manner.	11
21427078	2011	Influence of MRP2 on MPA pharmacokinetics in renal transplant recipients-results of the Pharmacogenomic Substudy within the Symphony Study.	6
17289272	2007	The Kelch-like protein 1 modulates P/Q-type calcium current density.	5

Citation

Dessen P

KLHL1 (kelch like family member 1)

Atlas Genet Cytogenet Oncol Haematol. 2008-07-01

Online version: http://atlasgeneticsoncology.org/gene/50233/klhl1