GLPE_HUMAN
ID GLPE_HUMAN Reviewed; 78 AA.
AC P15421; D3DNZ5;
DT 01-APR-1990, integrated into UniProtKB/Swiss-Prot.
DT 27-MAY-2002, sequence version 2.
DT 03-AUG-2022, entry version 162.
DE RecName: Full=Glycophorin-E;
DE Flags: Precursor;
GN Name=GYPE; Synonyms=GPE;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT GLU-13.
RX PubMed=2295603; DOI=10.1016/s0021-9258(19)40164-6;
RA Kudo S., Fukuda M.;
RT "Identification of a novel human glycophorin, glycophorin E, by isolation
RT of genomic clones and complementary DNA clones utilizing polymerase chain
RT reaction.";
RL J. Biol. Chem. 265:1102-1110(1990).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RC TISSUE=Blood;
RX PubMed=2390989; DOI=10.1111/j.1432-1033.1990.tb19166.x;
RA Vignal A., Rahuel C., London J., Cherif-Zahar B., Schaff S., Hattab C.,
RA Okubo Y., Cartron J.-P.;
RT "A novel gene member of the human glycophorin A and B gene family.
RT Molecular cloning and expression.";
RL Eur. J. Biochem. 191:619-625(1990).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT GLU-13.
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Lung;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-12.
RX PubMed=2249783; DOI=10.1016/0378-1119(90)90374-z;
RA Vignal A., London J., Rahuel C., Cartron J.-P.;
RT "Promoter sequence and chromosomal organization of the genes encoding
RT glycophorins A, B and E.";
RL Gene 95:289-293(1990).
RN [6]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-12.
RC TISSUE=Blood;
RX PubMed=7798177; DOI=10.1093/oxfordjournals.jbchem.a124492;
RA Kudo S., Onda M., Fukuda M.;
RT "Characterization of glycophorin A transcripts: control by the common
RT erythroid-specific promoter and alternative usage of different
RT polyadenylation signals.";
RL J. Biochem. 116:183-192(1994).
CC -!- FUNCTION: This protein is a minor sialoglycoprotein in human
CC erythrocyte membranes.
CC -!- SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
CC -!- TISSUE SPECIFICITY: Erythrocytes.
CC -!- PTM: The N-terminal extracellular domain is heavily glycosylated on
CC serine and threonine residues. {ECO:0000250}.
CC -!- SIMILARITY: Belongs to the glycophorin-A family. {ECO:0000305}.
CC -!- WEB RESOURCE: Name=dbRBC/BGMUT; Note=Blood group antigen gene mutation
CC database;
CC URL="https://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=mns";
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DR EMBL; M57233; AAA63179.1; -; Genomic_DNA.
DR EMBL; M29605; AAA52766.1; -; Genomic_DNA.
DR EMBL; M29609; AAA52766.1; JOINED; Genomic_DNA.
DR EMBL; M29608; AAA52766.1; JOINED; Genomic_DNA.
DR EMBL; M29610; AAA52575.1; -; mRNA.
DR EMBL; X53010; CAA37191.1; -; Genomic_DNA.
DR EMBL; X53004; CAA37189.1; -; Genomic_DNA.
DR EMBL; X53005; CAA37189.1; JOINED; Genomic_DNA.
DR EMBL; X53008; CAA37189.1; JOINED; Genomic_DNA.
DR EMBL; CH471056; EAX05065.1; -; Genomic_DNA.
DR EMBL; CH471056; EAX05066.1; -; Genomic_DNA.
DR EMBL; CH471056; EAX05067.1; -; Genomic_DNA.
DR EMBL; BC017864; AAH17864.1; -; mRNA.
DR EMBL; M57234; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; M57232; AAA35923.1; -; Genomic_DNA.
DR EMBL; L31863; AAC41697.1; -; Genomic_DNA.
DR CCDS; CCDS47138.1; -.
DR PIR; A34931; A34931.
DR RefSeq; NP_002093.2; NM_002102.3.
DR RefSeq; NP_941391.2; NM_198682.2.
DR RefSeq; XP_016863628.1; XM_017008139.1.
DR RefSeq; XP_016863629.1; XM_017008140.1.
DR AlphaFoldDB; P15421; -.
DR SMR; P15421; -.
DR STRING; 9606.ENSP00000351430; -.
DR BioMuta; GYPE; -.
DR MassIVE; P15421; -.
DR PaxDb; P15421; -.
DR PeptideAtlas; P15421; -.
DR PRIDE; P15421; -.
DR Antibodypedia; 76856; 41 antibodies from 8 providers.
DR DNASU; 2996; -.
DR Ensembl; ENST00000358615.9; ENSP00000351430.4; ENSG00000197465.14.
DR Ensembl; ENST00000437468.2; ENSP00000400698.2; ENSG00000197465.14.
DR GeneID; 2996; -.
DR KEGG; hsa:2996; -.
DR MANE-Select; ENST00000358615.9; ENSP00000351430.4; NM_198682.3; NP_941391.2.
DR UCSC; uc003ijj.4; human.
DR CTD; 2996; -.
DR DisGeNET; 2996; -.
DR GeneCards; GYPE; -.
DR HGNC; HGNC:4705; GYPE.
DR HPA; ENSG00000197465; Tissue enriched (bone).
DR MIM; 138590; gene.
DR neXtProt; NX_P15421; -.
DR OpenTargets; ENSG00000197465; -.
DR PharmGKB; PA29083; -.
DR VEuPathDB; HostDB:ENSG00000197465; -.
DR eggNOG; ENOG502TKYQ; Eukaryota.
DR GeneTree; ENSGT00550000075214; -.
DR HOGENOM; CLU_154690_1_0_1; -.
DR InParanoid; P15421; -.
DR OMA; KLITYQL; -.
DR PhylomeDB; P15421; -.
DR TreeFam; TF341456; -.
DR PathwayCommons; P15421; -.
DR BioGRID-ORCS; 2996; 84 hits in 997 CRISPR screens.
DR GeneWiki; GYPE; -.
DR GenomeRNAi; 2996; -.
DR Pharos; P15421; Tdark.
DR PRO; PR:P15421; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; P15421; protein.
DR Bgee; ENSG00000197465; Expressed in trabecular bone tissue and 107 other tissues.
DR ExpressionAtlas; P15421; baseline and differential.
DR Genevisible; P15421; HS.
DR GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
DR GO; GO:0005886; C:plasma membrane; TAS:ProtInc.
DR InterPro; IPR001195; Glycophorin.
DR PANTHER; PTHR13813; PTHR13813; 1.
PE 2: Evidence at transcript level;
KW Glycoprotein; Membrane; Reference proteome; Sialic acid; Signal;
KW Transmembrane; Transmembrane helix.
FT SIGNAL 1..19
FT CHAIN 20..78
FT /note="Glycophorin-E"
FT /id="PRO_0000012138"
FT TOPO_DOM 20..52
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 53..73
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 74..78
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT VARIANT 13
FT /note="G -> E (in dbSNP:rs1132785)"
FT /evidence="ECO:0000269|PubMed:2295603, ECO:0000269|Ref.3"
FT /id="VAR_062006"
FT VARIANT 78
FT /note="R -> P (in dbSNP:rs17018900)"
FT /id="VAR_053111"
SQ SEQUENCE 78 AA; 8463 MW; F1F5B6EE5CFB3EB3 CRC64;
MYGKIIFVLL LSGIVSISAS STTGVAMHTS TSSSVTKSYI SSQTNGITLI NWWAMARVIF
EVMLVVVGMI ILISYCIR
