HAP1 (huntingtin associated protein 1)

2009-03-01  

Identity

HGNC
HAP1
LOCATION
17q21.2
LOCUSID
9001
ALIAS
HAP2,HIP5,HLP,hHLP1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9001
MIM: 600947
HGNC: 4812
Ensembl: ENSG00000173805

Variants:

dbSNP: 9001
ClinVar: 9001
TCGA: ENSG00000173805
COSMIC: HAP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000173805ENST00000310778P54257
ENSG00000173805ENST00000341193P54257
ENSG00000173805ENST00000347901P54257
ENSG00000173805ENST00000393939P54257
ENSG00000173805ENST00000442364H7BZC9
ENSG00000173805ENST00000455021H7C0W9
ENSG00000173805ENST00000458656H7C295

Expression (GTEx)

0
5
10
15
20
25
30
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
Huntington's diseaseKEGGko05016
Huntington's diseaseKEGGhsa05016
GABAergic synapseKEGGko04727
GABAergic synapseKEGGhsa04727

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
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
219857832011Ciliogenesis is regulated by a huntingtin-HAP1-PCM1 pathway and is altered in Huntington disease.51
175698842007A polymorphism in the protease-like domain of apolipoprotein(a) is associated with severe coronary artery disease.49
181926792008Huntingtin-associated protein-1 is a modifier of the age-at-onset of Huntington's disease.29
181926792008Huntingtin-associated protein-1 is a modifier of the age-at-onset of Huntington's disease.29
189227952008Huntingtin regulates RE1-silencing transcription factor/neuron-restrictive silencer factor (REST/NRSF) nuclear trafficking indirectly through a complex with REST/NRSF-interacting LIM domain protein (RILP) and dynactin p150 Glued.27
199961062010Huntingtin-associated protein-1 interacts with pro-brain-derived neurotrophic factor and mediates its transport and release.25
213576932011Precursor of brain-derived neurotrophic factor (proBDNF) forms a complex with Huntingtin-associated protein-1 (HAP1) and sortilin that modulates proBDNF trafficking, degradation, and processing.23
192621672009Huntingtin associated protein 1 and its functions.19
157376342005Sleeping Beauty-mediated down-regulation of huntingtin expression by RNA interference.15
205126062010Age at onset in Huntington's disease: replication study on the associations of ADORA2A, HAP1 and OGG1.14

Citation

Dessen P

HAP1 (huntingtin associated protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2009-03-01

Online version: http://atlasgeneticsoncology.org/gene/50706/hap1