RBCC

Full text data of GYPE

GYPE (GPE) [Confidence: high (a blood group or CD marker)]
Glycophorin-E; Flags: Precursor

BGMUT mns
372 mns GYPA and GYPE GYP Sta(ERIK/TF) GYPSta(ERIK/TF) (A-E-A hybrid) A and E intron 2+intron 3: minimal sequence transferred from GYPE to GYPA: from 240nt downstrem from 3'end of intron2 + pseudoexon 3 + intron 3 1-25; in GYPA intron 2 -240A>G; -97delG; -84A>G; 79G>A; 76C>T -48A>T; -47C>T: exon III 140C>A; 160 G>C; 165 -167delCAC; 170C>A; 174A>T; 176C>T 178C>A; 194T>A 204G>C; 230C>A; 231C>T; intron 3 1G>A; 55A>G DKHKRDTYPVHSVNEVSEISVTTVSPPEEEN46-78del (sequence encoded by GYPE pseudoexon III is not expressed) cDNA; gDNA Sta/ERIK rare 10862083 AF239850 Huang et al. Gene conversion; A-E-A hybrid;transferred sequence is not expressed because it includes transfer of an inactive splicing signal; similar to Sta proteins and it bears the Sta epitope. Blumenfeld OO, curator 2008-04-09 20:51:37.983 NA

UniProt P15421
ID GLPE_HUMAN Reviewed; 78 AA.
AC P15421; D3DNZ5;
DT 01-APR-1990, integrated into UniProtKB/Swiss-Prot.
read moreDT 27-MAY-2002, sequence version 2.
DT 22-JAN-2014, entry version 116.
DE RecName: Full=Glycophorin-E;
DE Flags: Precursor;
GN Name=GYPE; Synonyms=GPE;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT GLU-13.
RX PubMed=2295603;
RA Kudo S., Fukuda M.;
RT "Identification of a novel human glycophorin, glycophorin E, by
RT isolation of genomic clones and complementary DNA clones utilizing
RT polymerase chain 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.,
RA Hattab C., 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.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA 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
RT project: 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;
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
CC protein.
CC -!- TISSUE SPECIFICITY: Erythrocytes.
CC -!- PTM: The N-terminal extracellular domain is heavily glycosylated
CC on serine and threonine residues (By similarity).
CC -!- SIMILARITY: Belongs to the glycophorin-A family.
CC -!- WEB RESOURCE: Name=dbRBC/BGMUT; Note=Blood group antigen gene
CC mutation database;
CC URL="http://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 PIR; A34931; A34931.
DR RefSeq; NP_002093.2; NM_002102.3.
DR RefSeq; NP_941391.2; NM_198682.2.
DR UniGene; Hs.654368; -.
DR UniGene; Hs.728753; -.
DR ProteinModelPortal; P15421; -.
DR SMR; P15421; 46-78.
DR STRING; 9606.ENSP00000351430; -.
DR DMDM; 21264422; -.
DR DNASU; 2996; -.
DR Ensembl; ENST00000358615; ENSP00000351430; ENSG00000197465.
DR Ensembl; ENST00000437468; ENSP00000400698; ENSG00000197465.
DR GeneID; 2996; -.
DR KEGG; hsa:2996; -.
DR UCSC; uc003ijj.3; human.
DR CTD; 2996; -.
DR GeneCards; GC04M144792; -.
DR HGNC; HGNC:4705; GYPE.
DR MIM; 138590; gene.
DR neXtProt; NX_P15421; -.
DR PharmGKB; PA29083; -.
DR HOGENOM; HOG000089933; -.
DR HOVERGEN; HBG005850; -.
DR OMA; SYCIRLI; -.
DR GeneWiki; GYPE; -.
DR GenomeRNAi; 2996; -.
DR NextBio; 11878; -.
DR PRO; PR:P15421; -.
DR ArrayExpress; P15421; -.
DR Bgee; P15421; -.
DR CleanEx; HS_GYPE; -.
DR Genevestigator; P15421; -.
DR GO; GO:0005887; C:integral to plasma membrane; TAS:ProtInc.
DR InterPro; IPR001195; Glycophorin.
DR PANTHER; PTHR13813; PTHR13813; 1.
PE 2: Evidence at transcript level;
KW Complete proteome; Glycoprotein; Membrane; Polymorphism;
KW Reference proteome; Sialic acid; Signal; Transmembrane;
KW Transmembrane helix.
FT SIGNAL 1 19
FT CHAIN 20 78 Glycophorin-E.
FT /FTId=PRO_0000012138.
FT TOPO_DOM 20 52 Extracellular (Potential).
FT TRANSMEM 53 73 Helical; (Potential).
FT TOPO_DOM 74 78 Cytoplasmic (Potential).
FT VARIANT 13 13 G -> E (in dbSNP:rs28721877).
FT /FTId=VAR_062006.
FT VARIANT 78 78 R -> P (in dbSNP:rs17018900).
FT /FTId=VAR_053111.
SQ SEQUENCE 78 AA; 8463 MW; F1F5B6EE5CFB3EB3 CRC64;
MYGKIIFVLL LSGIVSISAS STTGVAMHTS TSSSVTKSYI SSQTNGITLI NWWAMARVIF
EVMLVVVGMI ILISYCIR
//

MIM 138590
*RECORD*
*FIELD* NO
138590
*FIELD* TI
*138590 GLYCOPHORIN E; GYPE
;;GPE
*FIELD* TX
Glycophorin A (GPA; 111300) and glycophorin B (GPB; 111740) are the
read moremajor sialoglycoproteins of the human red cell membrane and carry the
blood group MN and Ss antigens, respectively; they are also ligands for
viruses, bacteria, and parasites. Glycophorin C (GPC; 110750) has been
identified also. In the normal human genome, as well as in that of
persons with known alterations of GPA (also called GYPA) and/or GPB
(also GYPB) expression, Vignal et al. (1990) found a new gene closely
related to GYPA and GYPB. This gene, called glycophorin E (GPE, or
GYPE), is transcribed into a 0.6-kb message which encodes a 78-amino
acid protein with a putative leader peptide of 19 residues. The first 26
amino acids of the mature protein are identical to those of M-type
glycophorin A, but the C-terminal domain, residues 27-59, differs
significantly from those of GYPA and GYPB. The GYPE gene consists of 4
exons, distributed over 30 kb of DNA. Its nucleotide sequence is
homologous to those of GYPA and GYPB in the 5-prime region, up to exon
3. From an analysis of the GYPA, GYPB, and GYPE genes in glycophorin
variants En(a-), S-s-U- and Mk, Vignal et al. (1990) concluded that the
3 genes are organized in tandem on chromosome 4. Deletion events within
this region may remove 1 or 2 structural genes and generate new hybrid
structures in which the promoter region of 1 gene is positioned upstream
from the body of another gene of the same family. The GYPE gene and its
transcript were independently identified by Kudo and Fukuda (1990). Onda
et al. (1993) identified a presumptive precursor genomic segment that
contributed to the 3-prime end of a duplicated GPA gene from which the
GPB and GPE genes evolved through further duplication and divergence.
Kudo et al. (1990) mapped the GPE gene to 4q31.1 by in situ
hybridization.

Onda and Fukuda (1995) isolated several P1 plasmid clones with which
they characterized the organization of the glycophorin A, B, and E gene
cluster which spans about 330 kb of chromosome 4q31. For each gene, the
first intron varies in size from 25 to 29 kb, while the intergenic
interval is approximately 80 kb. The authors proposed that the
GPA-GPB-GPE cluster arose by 2 successive duplications and a number of
subsequent events, including a gene conversion between the exon 2 region
of GPA and GPE.

*FIELD* RF
1. Kudo, S.; Chagnovich, D.; Rearden, A.; Mattei, M. G.; Fukuda, M.
: Molecular analysis of a hybrid gene encoding human glycophorin variant
Miltenberger V-like molecule. J. Biol. Chem. 265: 13825-13829, 1990.

2. Kudo, S.; Fukuda, M.: Identification of a novel human glycophorin,
glycophorin E, by isolation of genomic clones and complementary DNA
clones utilizing polymerase chain reaction. J. Biol. Chem. 265:
1102-1110, 1990.

3. Onda, M.; Fukuda, M.: Detailed physical mapping of the genes encoding
glycophorins A, B, and E, as revealed by P1 plasmids containing human
genomic DNA. Gene 159: 225-230, 1995.

4. Onda, M.; Kudo, S.; Rearden, A.; Mattei, M.-G.; Fukuda, M.: Identification
of a precursor genomic segment that provided a sequence unique to
glycophorin B and E genes. Proc. Nat. Acad. Sci. 90: 7220-7224,
1993.

5. Vignal, A.; Rahuel, C.; London, J.; Cherif Zahar, B.; Schaff, S.;
Hattab, C.; Okubo, Y.; Cartron, J.-P.: A novel gene member of the
human glycophorin A and B gene family: molecular cloning and expression. Europ.
J. Biochem. 191: 619-625, 1990.

*FIELD* CN
Alan F. Scott - updated: 8/9/1995

*FIELD* CD
Victor A. McKusick: 12/10/1990

*FIELD* ED
dkim: 09/11/1998
terry: 6/18/1998
joanna: 5/7/1998
mark: 8/9/1995
terry: 4/27/1994
carol: 10/4/1993
supermim: 3/16/1992
carol: 4/2/1991
carol: 3/20/1991

RBCC Red Blood Cell Collection

Full text data of GYPE