CNDP1 (carnosine dipeptidase 1)

2007-02-01  

Identity

HGNC
CNDP1
LOCATION
18q22.3
LOCUSID
84735
ALIAS
CN1,CPGL2,HsT2308

Other Information

Locus ID:

NCBI: 84735
MIM: 609064
HGNC: 20675
Ensembl: ENSG00000150656

Variants:

dbSNP: 84735
ClinVar: 84735
TCGA: ENSG00000150656
COSMIC: CNDP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000150656ENST00000358821Q96KN2
ENSG00000150656ENST00000582365J3KRP0
ENSG00000150656ENST00000584316J3QQM7

Expression (GTEx)

0
50
100
150
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

Pathways

PathwaySourceExternal ID
Arginine and proline metabolismKEGGko00330
Histidine metabolismKEGGko00340
beta-Alanine metabolismKEGGko00410
Arginine and proline metabolismKEGGhsa00330
Histidine metabolismKEGGhsa00340
beta-Alanine metabolismKEGGhsa00410
Metabolic pathwaysKEGGhsa01100

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
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
160462972005Carnosine as a protective factor in diabetic nephropathy: association with a leucine repeat of the carnosinase gene CNDP1.75
160462972005Carnosine as a protective factor in diabetic nephropathy: association with a leucine repeat of the carnosinase gene CNDP1.75
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
172059632007A leucine repeat in the carnosinase gene CNDP1 is associated with diabetic end-stage renal disease in European Americans.39
172059632007A leucine repeat in the carnosinase gene CNDP1 is associated with diabetic end-stage renal disease in European Americans.39
176019922007L-carnosine, a substrate of carnosinase-1, influences glucose metabolism.31
193734892009The influence of carnosinase gene polymorphisms on diabetic nephropathy risk in African-Americans.25
208652902011Vegetarianism, female gender and increasing age, but not CNDP1 genotype, are associated with reduced muscle carnosine levels in humans.22
208652902011Vegetarianism, female gender and increasing age, but not CNDP1 genotype, are associated with reduced muscle carnosine levels in humans.22
187536732008Exclusion of polymorphisms in carnosinase genes (CNDP1 and CNDP2) as a cause of diabetic nephropathy in type 1 diabetes: results of large case-control and follow-up studies.21

Citation

Dessen P

CNDP1 (carnosine dipeptidase 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46592/cndp1-(carnosine-dipeptidase-1)