Property Summary

NCBI Gene PubMed Count 9
PubMed Score 207.07
PubTator Score 28.81

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (3)

Disease Target Count
Vel - Blood Group Systems 1
Disease Target Count P-value
psoriasis 6685 1.2e-11
Disease Target Count Z-score Confidence
Hereditary elliptocytosis 20 3.082 1.5

Expression

  Differential Expression (1)

Disease log2 FC p
psoriasis -1.100 1.2e-11

Gene RIF (6)

PMID Text
26666208 Alleles that initially entered the population have been maintained within the population. The c.64_80del null allele of SMIM1 is one such allele, thus having implications for transfusion medicine and child or maternal health.
26452714 SMIM1 carries the Vel antigen as a type II membrane protein with a predicted C-terminal extracellular domain of only 3-12 amino acids
25647324 Weak Vel expression levels are caused by multiple genetic factors in SMIM1 and probably also by other genetic or environmental factors.
23563608 Loss of SMIM1 is associated with reduction in red blood cell formation.
23563606 Loss of SMIM1 is associated with reduction in red blood cell formation.
23505126 A cohort of 70 Vel- individuals was found to be uniformly homozygous for a 17 nucleotide deletion in the coding sequence of SMIM1.

AA Sequence

MQPQESHVHYSRWEDGSRDGVSLGAVSSTEEASRCRRISQRLCTGKLGIAMKVLGGVALFWIIFILGYLT      1 - 70
GYYVHKCK                                                                   71 - 78
//

Text Mined References (13)

PMID Year Title
26666208 2016 The c.64_80del SMIM1 allele is segregating in the Hutterite population.
26452714 2015 SMIM1 is a type II transmembrane phosphoprotein and displays the Vel blood group antigen at its carboxyl-terminus.
25647324 2015 Impact of genetic variation in the SMIM1 gene on Vel expression levels.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23720494 2013 Genome-wide association study identifies loci affecting blood copper, selenium and zinc.
23563608 2013 SMIM1 underlies the Vel blood group and influences red blood cell traits.
23563606 2013 Homozygosity for a null allele of SMIM1 defines the Vel-negative blood group phenotype.
23505126 2013 Disruption of SMIM1 causes the Vel- blood type.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.