SPNS1 (sphingolipid transporter 1 (putative))

2019-08-01  

Identity

HGNC
SPNS1
LOCATION
16p11.2
LOCUSID
83985
ALIAS
HSpin1,LAT,PP2030,SLC62A1,SLC63A1,SPIN1,SPINL,nrs

Other Information

Locus ID:

NCBI: 83985
MIM: 612583
HGNC: 30621
Ensembl: ENSG00000169682

Variants:

dbSNP: 83985
ClinVar: 83985
TCGA: ENSG00000169682
COSMIC: SPNS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000169682ENST00000311008Q9H2V7
ENSG00000169682ENST00000323081Q9H2V7
ENSG00000169682ENST00000323081A0A024QZ93
ENSG00000169682ENST00000334536Q9H2V7
ENSG00000169682ENST00000352260Q9H2V7
ENSG00000169682ENST00000564476H3BPQ9
ENSG00000169682ENST00000565975H3BMF4
ENSG00000169682ENST00000566059H3BR82
ENSG00000169682ENST00000567771H3BT44
ENSG00000169682ENST00000568388H3BP14
ENSG00000169682ENST00000568829H3BPT8

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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
113401702001Mutations in the novel membrane protein spinster interfere with programmed cell death and cause neural degeneration in Drosophila melanogaster.39
295471222018SPIN1 promotes tumorigenesis by blocking the uL18 (universal large ribosomal subunit protein 18)-MDM2-p53 pathway in human cancer.6
229420982012Polymorphisms in sh2b1 and spns1 loci are associated with triglyceride levels in a healthy population in northern Sweden.4
291628372017L-leucine and SPNS1 coordinately ameliorate dysfunction of autophagy in mouse and human Niemann-Pick type C disease.3

Citation

Dessen P

SPNS1 (sphingolipid transporter 1 (putative))

Atlas Genet Cytogenet Oncol Haematol. 2019-08-01

Online version: http://atlasgeneticsoncology.org/gene/58075/spns1