HINT1 (histidine triad nucleotide binding protein 1)

2010-08-01  

Identity

HGNC
HINT1
LOCATION
5q23.3
LOCUSID
3094
ALIAS
HINT,NMAN,PKCI-1,PRKCNH1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3094
MIM: 601314
HGNC: 4912
Ensembl: ENSG00000169567

Variants:

dbSNP: 3094
ClinVar: 3094
TCGA: ENSG00000169567
COSMIC: HINT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000169567ENST00000304043P49773
ENSG00000169567ENST00000304043A0A384NPU2
ENSG00000169567ENST00000504202D6RC06
ENSG00000169567ENST00000506908D6RE99
ENSG00000169567ENST00000508488D6RD60
ENSG00000169567ENST00000508495D6REP8
ENSG00000169567ENST00000511475D6RD60
ENSG00000169567ENST00000513012D6RC06
ENSG00000169567ENST00000513345D6RC06
ENSG00000169567ENST00000520028H0YC49

Expression (GTEx)

0
50
100
150
200
250
300
350
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
adrenal gland
nasopharynx
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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166123046cessationDiseaseClinicalAnnotationassociated
PA445876Tobacco Use DisorderDiseaseClinicalAnnotationassociatedPD17978999
PA450626nicotineChemicalClinicalAnnotationassociatedPD17978999

References

Pubmed IDYearTitleCitations
168352432006The histidine triad protein Hint1 triggers apoptosis independent of its enzymatic activity.37
118051112002Adenosine monophosphoramidase activity of Hint and Hnt1 supports function of Kin28, Ccl1, and Tfb3.36
204680642010Association study of 182 candidate genes in anorexia nervosa.30
229610022012Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.25
171265292007RGSZ1 interacts with protein kinase C interacting protein PKCI-1 and modulates mu opioid receptor signaling.24
192407912009Integrated genomic analysis implicates haploinsufficiency of multiple chromosome 5q31.2 genes in de novo myelodysplastic syndromes pathogenesis.24
187992912008Is the histidine triad nucleotide-binding protein 1 (HINT1) gene a candidate for schizophrenia?20
187992912008Is the histidine triad nucleotide-binding protein 1 (HINT1) gene a candidate for schizophrenia?20
243863642013Quantitative analysis of BTF3, HINT1, NDRG1 and ODC1 protein over-expression in human prostate cancer tissue.17
185939372008Activation of protein kinase G Increases the expression of p21CIP1, p27KIP1, and histidine triad protein 1 through Sp1.16

Citation

Dessen P

HINT1 (histidine triad nucleotide binding protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2010-08-01

Online version: http://atlasgeneticsoncology.org/gene/51577/hint1