SMIM1 (small integral membrane protein 1 (Vel blood group))

2016-10-01  

Identity

HGNC
SMIM1
LOCATION
1p36.32
LOCUSID
388588
ALIAS
Vel

Other Information

Locus ID:

NCBI: 388588
MIM: 615242
HGNC: 44204
Ensembl: ENSG00000235169

Variants:

dbSNP: 388588
ClinVar: 388588
TCGA: ENSG00000235169
COSMIC: SMIM1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000235169ENST00000444870B2RUZ4
ENSG00000235169ENST00000444870M4WDD3
ENSG00000235169ENST00000561886H3BS66
ENSG00000235169ENST00000642557A0A2R8Y7R4

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
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
235051262013Disruption of SMIM1 causes the Vel- blood type.0
235636062013Homozygosity for a null allele of SMIM1 defines the Vel-negative blood group phenotype.0
235636082013SMIM1 underlies the Vel blood group and influences red blood cell traits.0
256473242015Impact of genetic variation in the SMIM1 gene on Vel expression levels.0
264527142015SMIM1 is a type II transmembrane phosphoprotein and displays the Vel blood group antigen at its carboxyl-terminus.0
266662082016The c.64_80del SMIM1 allele is segregating in the Hutterite population.0
273283732016Screening for the SMIM1*64_80 del Allele in blood donors in a population from Southern Brazil.0
280844022017SMIM1 variants rs1175550 and rs143702418 independently modulate Vel blood group antigen expression.0
295179702019SMIM1 polymorphisms in a donor population from southeast Brazil and their correlation with VEL expression.0
312186972019Identification of a novel single-nucleotide mutation in SMIM1 gene that results in low Vel antigen expression.0

Citation

Dessen P

SMIM1 (small integral membrane protein 1 (Vel blood group))

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56304/smim1