UBAP1 (ubiquitin associated protein 1)

2003-06-01  

Identity

HGNC
UBAP1
LOCATION
9p13.3
LOCUSID
51271
ALIAS
NAG20,SPG80,UAP,UBAP,UBAP-1

Other Information

Locus ID:

NCBI: 51271
MIM: 609787
HGNC: 12461
Ensembl: ENSG00000165006

Variants:

dbSNP: 51271
ClinVar: 51271
TCGA: ENSG00000165006
COSMIC: UBAP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000165006ENST00000297661Q9NZ09
ENSG00000165006ENST00000359544Q9NZ09
ENSG00000165006ENST00000379186Q9NZ09
ENSG00000165006ENST00000625521Q9NZ09
ENSG00000165006ENST00000626262A0A0D9SG79

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

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
353478972022A novel UBAP1 truncated variant in a Chinese family with hereditary spastic paraplegia.0
353478972022A novel UBAP1 truncated variant in a Chinese family with hereditary spastic paraplegia.0
341918522021Two novel truncating variants in UBAP1 are responsible for hereditary spastic paraplegia.4
341918522021Two novel truncating variants in UBAP1 are responsible for hereditary spastic paraplegia.4
316969962020Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia.10
329343402020Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project.6
316969962020Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia.10
329343402020Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project.6
309297412019Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.21
309297412019Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.21
312033682019Stop-gain mutations in UBAP1 cause pure autosomal-dominant spastic paraplegia.16
315155222019UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes.10
309297412019Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.21
309297412019Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.21
312033682019Stop-gain mutations in UBAP1 cause pure autosomal-dominant spastic paraplegia.16

Citation

Dessen P

UBAP1 (ubiquitin associated protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/42741/gene-explorer/css/template-card.css