Human Gene GYPC (ENST00000259254.9) from GENCODE V44
Description: Homo sapiens glycophorin C (Gerbich blood group) (GYPC), transcript variant 1, mRNA. (from RefSeq NM_002101) RefSeq Summary (NM_002101): Glycophorin C (GYPC) is an integral membrane glycoprotein. It is a minor species carried by human erythrocytes, but plays an important role in regulating the mechanical stability of red cells. A number of glycophorin C mutations have been described. The Gerbich and Yus phenotypes are due to deletion of exon 3 and 2, respectively. The Webb and Duch antigens, also known as glycophorin D, result from single point mutations of the glycophorin C gene. The glycophorin C protein has very little homology with glycophorins A and B. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]. Gencode Transcript: ENST00000259254.9 Gencode Gene: ENSG00000136732.16 Transcript (Including UTRs) Position: hg38 chr2:126,656,158-126,696,667 Size: 40,510 Total Exon Count: 4 Strand: + Coding Region Position: hg38 chr2:126,656,264-126,696,142 Size: 39,879 Coding Exon Count: 4
ID:GLPC_HUMAN DESCRIPTION: RecName: Full=Glycophorin-C; AltName: Full=Glycoconnectin; AltName: Full=Glycophorin-D; Short=GPD; AltName: Full=Glycoprotein beta; AltName: Full=PAS-2'; AltName: Full=Sialoglycoprotein D; AltName: CD_antigen=CD236; FUNCTION: This protein is a minor sialoglycoprotein in human erythrocyte membranes. The blood group Gerbich antigens and receptors for Plasmodium falciparum merozoites are most likely located within the extracellular domain. Glycophorin-C plays an important role in regulating the stability of red cells. SUBCELLULAR LOCATION: Cell membrane; Single-pass type III membrane protein. Note=Linked to the membrane via band 4.1. TISSUE SPECIFICITY: Glycophorin-C is expressed in erythrocytes. Glycophorin-D is ubiquitous. PTM: O-glycosylated with core 1 or possibly core 8 glycans. POLYMORPHISM: GYPC is responsible for the Gerbich blood group system. Deletion of exon 3 in GYPC changes the serologic phenotype of the Gerbich blood group system, resulting in Ge negativity. Ge negative individuals are protected against severe malaria due to erythrocytes resistance to Plasmodium falciparum invasion [MIM:611162]. SIMILARITY: Belongs to the glycophorin-C family. SEQUENCE CAUTION: Sequence=CAA32093.1; Type=Frameshift; Positions=35; 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=gerbich"; WEB RESOURCE: Name=Wikipedia; Note=Glycophorin C entry; URL="http://en.wikipedia.org/wiki/Glycophorin_C"; WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/gypc/";
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 P04921
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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.
US Server
