Description: Homo sapiens erythroblast membrane-associated protein (Scianna blood group) (ERMAP), transcript variant 1, mRNA. RefSeq Summary (NM_001017922): The protein encoded by this gene is a cell surface transmembrane protein that may act as an erythroid cell receptor, possibly as a mediator of cell adhesion. Polymorphisms in this gene are responsible for the Scianna/Radin blood group system. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr1:43,282,776-43,310,660 Size: 27,885 Total Exon Count: 12 Strand: + Coding Region Position: hg19 chr1:43,296,120-43,308,903 Size: 12,784 Coding Exon Count: 10
ID:ERMAP_HUMAN DESCRIPTION: RecName: Full=Erythroid membrane-associated protein; Short=hERMAP; AltName: Full=Radin blood group antigen; AltName: Full=Scianna blood group antigen; Flags: Precursor; FUNCTION: Possible role as a cell-adhesion or receptor molecule of erythroid cells. SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Cytoplasm. TISSUE SPECIFICITY: Expressed in erythroid-enriched bone marrow (at protein level). Highly expressed in bone marrow and to a lower extent in leukocytes, thymus, lymph node and spleen. DEVELOPMENTAL STAGE: Expressed in fetal liver blood cells (at protein level). Highly expressed in fetal liver. PTM: Glycosylated. POLYMORPHISM: ERMAP is responsible for the Scianna/Radin blood group system which comprises seven different antigens. The Sc1 and Sc2 antigens are resulting from a single variation in position 57; Arg-57 corresponds to the Sc2 antigen and Gly-57 to the Sc1 antigen. The Sc2 antigen is rare with an occurrence of less than 1% in the population while Sc1 is more frequent. Sc3 is not expressed by individuals homozygous for a null allele encoding a truncated protein lacking its extracellular part (Sc-3). The Sc4 antigen corresponding to the previously defined Radin blood group antigen (Rd) is due to a single variation in position 60; Ala-60 corresponds to Sc4/Rd(+), the antigenic form of the protein. Sc4 is found in less than 1% of the population. Sc5/STAR, Sc6/SCER and Sc7/SCAN antigens are due to single variations in positions 47, 81 and 35 respectively. Alloantibodies to the low frequency Sc2 and Sc4 antigens are the cause of hemolytic disease in the newborn. SIMILARITY: Belongs to the immunoglobulin superfamily. BTN/MOG family. SIMILARITY: Contains 1 B30.2/SPRY domain. SIMILARITY: Contains 1 Ig-like V-type (immunoglobulin-like) domain. SEQUENCE CAUTION: Sequence=CAH72716.1; Type=Erroneous gene model prediction; WEB RESOURCE: Name=dbRBC/BGMUT; Note=Blood group antigen gene mutation database; URL="http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=scianna"; WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/ermap/";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q96PL5
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.