Family Search for PF15875 (DUF4731)

PF15875.5 hits 3 sequences in PaperBLAST's database above the trusted cutoff. Showing all hits. Or show only hits to curated sequences or try another family.

SMIM1_HUMAN / B2RUZ4 Small integral membrane protein 1; Vel blood group antigen from Homo sapiens (Human) (see 4 papers)
NP_001275512 small integral membrane protein 1 from Homo sapiens
Aligns to 3:77 / 78 (96.2%), covers 100.0% of PF15875, 140.6 bits

• function: Regulator of red blood cell formation.
  subunit: Homooligomer; disulfide-linked.
• Quantitative proteomic analysis of urinary exosomes in kidney stone patients.
  Wang, Translational andrology and urology 2020
• SMIM1 polymorphisms in a donor population from southeast Brazil and their correlation with VEL expression.
  Arnoni, Blood transfusion = Trasfusione del sangue 2019
  • GeneRIF: the present study demonstrated that although the SMIM1*64_80del allele is responsible for some variation of Vel phenotype in this donor population, Vel expression is also controlled by molecular changes in SMIM1 intron 2.
• Identification of a novel single-nucleotide mutation in SMIM1 gene that results in low Vel antigen expression.
  van, Transfusion 2019
  • GeneRIF: Identification of a novel single-nucleotide mutation in SMIM1 gene that results in low Vel antigen expression.
• SMIM1 variants rs1175550 and rs143702418 independently modulate Vel blood group antigen expression.
  Christophersen, Scientific reports 2017
  • GeneRIF: rs1175550G and to a lesser extent rs143702418C independently increase SMIM1 and Vel antigen expression.
• The c.64_80del SMIM1 allele is segregating in the Hutterite population.
  Coghlan, Transfusion 2016 (PubMed)
  • GeneRIF: 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.
• Screening for the SMIM1*64_80 del Allele in blood donors in a population from Southern Brazil.
  Costa, Transfusion medicine (Oxford, England) 2016 (PubMed)
  • GeneRIF: Among the 448 samples analysed, 10 (2.23%) harboured the 17 bp deletion of the gene SMIM1, and all were heterozygote for the SMIM1*64_80 del allele.
• Impact of genetic variation in the SMIM1 gene on Vel expression levels.
  Haer-Wigman, Transfusion 2015 (PubMed)
  • GeneRIF: Weak Vel expression levels are caused by multiple genetic factors in SMIM1 and probably also by other genetic or environmental factors.
• SMIM1 is a type II transmembrane phosphoprotein and displays the Vel blood group antigen at its carboxyl-terminus.
  Arnaud, FEBS letters 2015
  • GeneRIF: SMIM1 carries the Vel antigen as a type II membrane protein with a predicted C-terminal extracellular domain of only 3-12 amino acids
• Disruption of SMIM1 causes the Vel- blood type.
  Ballif, EMBO molecular medicine 2013
  • GeneRIF: A cohort of 70 Vel- individuals was found to be uniformly homozygous for a 17 nucleotide deletion in the coding sequence of SMIM1.
• More

LOC100520228 small integral membrane protein 1 from Sus scrofa
Aligns to 3:78 / 79 (96.2%), covers 100.0% of PF15875, 126.0 bits

• PRE-1 Revealed Previous Unknown Introgression Events in Eurasian Boars during the Middle Pleistocene
  Zhao, Genome biology and evolution 2020
  • “...deletion. The content description is the same as the HDX gene. ( d ) The LOC100520228 gene ( SMIM1 gene) with a 1,064-bp deletion. The content description is the same as the HDX gene. Importantly, the exon region of three genes was found to be altered...”
  • “...playing a central role in embryo implantation ( Fukuda etal. 1995 ); and 3) the LOC100520228 gene (1,064-bp deletion over entire gene, fig.5 d ) had orthologous gene pairs with the small integral membrane protein 1 ( SMIM1 ) gene in humans, which underlies the Vel...”

SMIM1_DANRE / B3DHH5 Small integral membrane protein 1 from Danio rerio (Zebrafish) (Brachydanio rerio) (see paper)
Aligns to 3:71 / 72 (95.8%), covers 98.7% of PF15875, 99.4 bits

• function: Regulator of red blood cells formation.
  subunit: Homooligomer; disulfide-linked.
  disruption phenotype: Mild reduction in the number of red blood cells.

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