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Aliases for GYPA Gene

Aliases for GYPA Gene

  • Glycophorin A (MNS Blood Group) 2 3 5
  • Glycophorin A (MN Blood Group) 2 3
  • Sialoglycoprotein Alpha 3 4
  • MN Sialoglycoprotein 3 4
  • PAS-2 3 4
  • GPA 3 4
  • Erythroid-Lineage-Specific Membrane Sialoglycoprotein 3
  • Recombinant Glycophorin A-B Miltenberger-DR 3
  • Glycophorin A (Includes MN Blood Group) 2
  • Mi.V Glycoprotein (24 AA) 3
  • Glycophorin Sta Type C 3
  • Glycophorin A, GPA 3
  • Glycophorin Erik 3
  • Glycophorin MiI 3
  • Glycophorin MiV 3
  • Glycophorin SAT 3
  • CD235a Antigen 4
  • Glycophorin-A 3
  • HGpSta(C) 3
  • HGpMiXI 3
  • CD235a 3
  • GPErik 3
  • HGpMiV 3
  • GPSAT 3
  • MNS 3
  • MN 3

External Ids for GYPA Gene

Previous HGNC Symbols for GYPA Gene

  • MNS

Previous GeneCards Identifiers for GYPA Gene

  • GC04M145826
  • GC04M145405
  • GC04M145608
  • GC04M145388
  • GC04M145249
  • GC04M144917
  • GC04M145030
  • GC04M140759

Summaries for GYPA Gene

Entrez Gene Summary for GYPA Gene

  • Glycophorins A (GYPA) and B (GYPB) are major sialoglycoproteins of the human erythrocyte membrane which bear the antigenic determinants for the MN and Ss blood groups. In addition to the M or N and S or s antigens that commonly occur in all populations, about 40 related variant phenotypes have been identified. These variants include all the variants of the Miltenberger complex and several isoforms of Sta, as well as Dantu, Sat, He, Mg, and deletion variants Ena, S-s-U- and Mk. Most of the variants are the result of gene recombinations between GYPA and GYPB. [provided by RefSeq, Jul 2008]

GeneCards Summary for GYPA Gene

GYPA (Glycophorin A (MNS Blood Group)) is a Protein Coding gene. Diseases associated with GYPA include Malaria and Pyridoxine-Responsive Sideroblastic Anemia. Among its related pathways are Hematopoietic cell lineage and Cell surface interactions at the vascular wall. GO annotations related to this gene include protein homodimerization activity and virus receptor activity.

UniProtKB/Swiss-Prot for GYPA Gene

  • Glycophorin A is the major intrinsic membrane protein of the erythrocyte. The N-terminal glycosylated segment, which lies outside the erythrocyte membrane, has MN blood group receptors. Appears to be important for the function of SLC4A1 and is required for high activity of SLC4A1. May be involved in translocation of SLC4A1 to the plasma membrane. Is a receptor for influenza virus. Is a receptor for Plasmodium falciparum erythrocyte-binding antigen 175 (EBA-175); binding of EBA-175 is dependent on sialic acid residues of the O-linked glycans. Appears to be a receptor for Hepatitis A virus (HAV).

Gene Wiki entry for GYPA Gene

Additional gene information for GYPA Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GYPA Gene

Genomics for GYPA Gene

Regulatory Elements for GYPA Gene

Enhancers for GYPA Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04H144104 0.9 FANTOM5 32.6 +766.0 765975 0 LEF1 NFRKB TAL1 CHAMP1 RELA TCF12 CC2D1A ZNF316 NCOR1 FOXK2 GYPA GYPE GYPB LOC105377460 LOC105377461
GH04H143984 0.3 FANTOM5 15.2 +886.4 886416 0 LOC100419356 GYPE GYPA GYPB PIR47279
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GYPA on UCSC Golden Path with GeneCards custom track

Genomic Location for GYPA Gene

Chromosome:
4
Start:
144,109,303 bp from pter
End:
144,870,953 bp from pter
Size:
761,651 bases
Orientation:
Minus strand

Genomic View for GYPA Gene

Genes around GYPA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GYPA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GYPA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GYPA Gene

Proteins for GYPA Gene

  • Protein details for GYPA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P02724-GLPA_HUMAN
    Recommended name:
    Glycophorin-A
    Protein Accession:
    P02724
    Secondary Accessions:
    • A8K3E6
    • B8Q182
    • B8Q185
    • Q9BS51

    Protein attributes for GYPA Gene

    Size:
    150 amino acids
    Molecular mass:
    16331 Da
    Quaternary structure:
    • Homodimer. Interacts with Streptococcus gordonii hsa protein.
    Miscellaneous:
    • Involved in several unequal homologous recombinations or gene conversion events, predominantly with GYPB and more rarely with GYPE. The resulting fusion proteins are observed in different phenotypes and encode low incidence bloodgroup antigens.
    SequenceCaution:
    • Sequence=AAA52624.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GYPA Gene

    Alternative splice isoforms for GYPA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GYPA Gene

Post-translational modifications for GYPA Gene

  • The major O-linked glycan are NeuAc-alpha-(2-3)-Gal-beta-(1-3)-[NeuAc-alpha-(2-6)]-GalNAcOH (about 78 %) and NeuAc-alpha-(2-3)-Gal-beta-(1-3)-GalNAcOH (17 %). Minor O-glycans (5 %) include NeuAc-alpha-(2-3)-Gal-beta-(1-3)-[NeuAc-alpha-(2-6)]-GalNAcOH NeuAc-alpha-(2-8)-NeuAc-alpha-(2-3)-Gal-beta-(1-3)-GalNAcOH. About 1% of all O-linked glycans carry blood group A, B and H determinants. They derive from a type-2 precursor core structure, Gal-beta-(1,3)-GlcNAc-beta-1-R, and the antigens are synthesized by addition of fucose (H antigen-specific) and then N-acetylgalactosamine (A antigen-specific) or galactose (B antigen-specific). Specifically O-linked-glycans are NeuAc-alpha-(2-3)-Gal-beta-(1-3)-GalNAcOH-(6-1)-GlcNAc-beta-(4-1)-[Fuc-alpha-(1-2)]-Gal-beta-(3-1)-GalNAc-alpha (about 1%, B antigen-specific) and NeuAc-alpha-(2-3)-Gal-beta-(1-3)-GalNAcOH-(6-1)-GlcNAc-beta-(4-1)-[Fuc-alpha-(1-2)]-Gal-beta (1 %, O antigen-, A antigen- and B antigen-specific).
  • Glycosylation at isoforms=21, posLast=2222, posLast=2323, isoforms=229, isoforms=230, isoforms=231, isoforms=232, isoforms=236, posLast=3838, posLast=4141, posLast=4444, posLast=4545, posLast=5252, isoforms=2, 356, posLast=6363, posLast=6666, and isoforms=2, 369
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GYPA Gene

Domains & Families for GYPA Gene

Gene Families for GYPA Gene

HGNC:
Human Protein Atlas (HPA):
  • Blood group antigen proteins
  • CD markers
  • Predicted membrane proteins

Protein Domains for GYPA Gene

Graphical View of Domain Structure for InterPro Entry

P02724

UniProtKB/Swiss-Prot:

GLPA_HUMAN :
  • Belongs to the glycophorin A family.
Family:
  • Belongs to the glycophorin A family.
genes like me logo Genes that share domains with GYPA: view

Function for GYPA Gene

Molecular function for GYPA Gene

GENATLAS Biochemistry:
glycophorin A (MN specificity),erythroid specific
UniProtKB/Swiss-Prot Function:
Glycophorin A is the major intrinsic membrane protein of the erythrocyte. The N-terminal glycosylated segment, which lies outside the erythrocyte membrane, has MN blood group receptors. Appears to be important for the function of SLC4A1 and is required for high activity of SLC4A1. May be involved in translocation of SLC4A1 to the plasma membrane. Is a receptor for influenza virus. Is a receptor for Plasmodium falciparum erythrocyte-binding antigen 175 (EBA-175); binding of EBA-175 is dependent on sialic acid residues of the O-linked glycans. Appears to be a receptor for Hepatitis A virus (HAV).

Phenotypes From GWAS Catalog for GYPA Gene

Gene Ontology (GO) - Molecular Function for GYPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001618 virus receptor activity IEA --
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI --
GO:0042802 identical protein binding IPI 14681217
genes like me logo Genes that share ontologies with GYPA: view

Phenotypes for GYPA Gene

genes like me logo Genes that share phenotypes with GYPA: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GYPA
  • Applied Biological Materials Clones for GYPA
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GYPA Gene

Localization for GYPA Gene

Subcellular locations from UniProtKB/Swiss-Prot for GYPA Gene

Cell membrane; Single-pass type I membrane protein. Note=Appears to be colocalized with SLC4A1.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GYPA gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 3
cytosol 3
cytoskeleton 2
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for GYPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane TAS,IEA 3456608
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with GYPA: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GYPA Gene

Pathways & Interactions for GYPA Gene

genes like me logo Genes that share pathways with GYPA: view

Pathways by source for GYPA Gene

1 BioSystems pathway for GYPA Gene

Interacting Proteins for GYPA Gene

Gene Ontology (GO) - Biological Process for GYPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0016032 viral process IEA --
GO:0046718 viral entry into host cell IEA --
GO:0050900 leukocyte migration TAS --
genes like me logo Genes that share ontologies with GYPA: view

No data available for SIGNOR curated interactions for GYPA Gene

Drugs & Compounds for GYPA Gene

(6) Drugs for GYPA Gene - From: DGIdb and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
WX-G250 Investigational Pharma 0

(13) Additional Compounds for GYPA Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GYPA: view

Transcripts for GYPA Gene

Unigene Clusters for GYPA Gene

Glycophorin A (MNS blood group):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GYPA
  • Applied Biological Materials Clones for GYPA
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for GYPA Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b
SP1:
SP2: -

Relevant External Links for GYPA Gene

GeneLoc Exon Structure for
GYPA
ECgene alternative splicing isoforms for
GYPA

Expression for GYPA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GYPA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GYPA Gene

This gene is overexpressed in Whole Blood (x34.3) and Spleen (x4.9).

Protein differential expression in normal tissues from HIPED for GYPA Gene

This gene is overexpressed in Lavage (25.5), Neutrophil (14.6), Skin (14.2), and Placenta (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GYPA Gene



NURSA nuclear receptor signaling pathways regulating expression of GYPA Gene:

GYPA

SOURCE GeneReport for Unigene cluster for GYPA Gene:

Hs.434973

Evidence on tissue expression from TISSUES for GYPA Gene

  • Blood(4.7)
  • Bone marrow(4.7)
  • Liver(4.4)
  • Kidney(4.2)
  • Lung(4.2)
genes like me logo Genes that share expression patterns with GYPA: view

Primer Products

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GYPA Gene

Orthologs for GYPA Gene

This gene was present in the common ancestor of human and mouse.

Orthologs for GYPA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GYPA 33 34
  • 93.51 (n)
mouse
(Mus musculus)
Mammalia Gypa 34
  • 26 (a)
OneToOne
Species where no ortholog for GYPA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for GYPA Gene

ENSEMBL:
Gene Tree for GYPA (if available)
TreeFam:
Gene Tree for GYPA (if available)

Paralogs for GYPA Gene

No data available for Paralogs for GYPA Gene

Variants for GYPA Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for GYPA Gene

GLPA_HUMAN-P02724
Along with GYPB, GYPA is responsible for the MNS blood group system. The molecular basis of the GPA M/N bloodgroup antigen is a variation at positions 20 and 24. Ser-20 and Gly-24 correspond to M (shown); Leu-20 and Glu-24 correspond to N.
GLPA_HUMAN-P02724
GYPA polymorphisms are involved in resistance to malaria [MIM:611162].

Sequence variations from dbSNP and Humsavar for GYPA Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs1800582 Pathogenic 144,119,686(-) AAACC(A/G)GTATG intron-variant, reference, missense
rs1000010510 -- 144,110,195(+) AAATT(A/T)AGATT intron-variant, utr-variant-3-prime
rs1000083724 -- 144,110,519(+) CCTTA(C/T)AGTAA intron-variant, utr-variant-3-prime
rs1000235860 -- 144,141,721(+) CCAGA(C/G)AGGGA intron-variant, upstream-variant-2KB
rs1000286599 -- 144,141,938(+) TTCTA(C/T)AAATT intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for GYPA Gene

Variant ID Type Subtype PubMed ID
dgv127e203 CNV gain+loss 21179565
dgv189e55 CNV gain 17911159
dgv5420n100 CNV loss 25217958
dgv5421n100 CNV gain 25217958
dgv5430n100 CNV gain 25217958
dgv5431n100 CNV gain+loss 25217958
dgv5433n100 CNV gain+loss 25217958
dgv668n27 CNV gain 19166990
dgv669n27 CNV gain 19166990
dgv9297n54 CNV gain 21841781
dgv9298n54 CNV loss 21841781
esv2728476 CNV deletion 23290073
esv2728480 CNV deletion 23290073
esv2728481 CNV deletion 23290073
esv2752026 CNV gain 17911159
esv2759288 CNV gain+loss 17122850
esv34834 CNV gain 17911159
esv3569733 CNV loss 25503493
esv3575776 CNV gain 25503493
esv3602533 CNV loss 21293372
esv3602534 CNV gain 21293372
esv3602537 CNV loss 21293372
esv3602538 CNV gain 21293372
esv3602539 CNV gain 21293372
esv3894042 CNV gain 25118596
esv3894043 CNV gain 25118596
esv3894046 CNV gain 25118596
esv3894048 CNV gain 25118596
nsv1020719 CNV gain 25217958
nsv1027899 CNV gain 25217958
nsv10584 CNV gain+loss 18304495
nsv428452 CNV loss 18775914
nsv436411 CNV deletion 17901297
nsv469732 CNV gain 16826518
nsv514257 CNV gain 21397061
nsv517006 CNV gain+loss 19592680
nsv595616 CNV gain 21841781
nsv595617 CNV loss 21841781
nsv595620 CNV loss 21841781
nsv818282 CNV gain 17921354
nsv822759 CNV gain 20364138
nsv967800 CNV duplication 23825009

Variation tolerance for GYPA Gene

Residual Variation Intolerance Score: 65.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.72; 57.49% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GYPA Gene

Human Gene Mutation Database (HGMD)
GYPA
Blood Group Antigen Gene Mutation Database (BGMUT)
Blood Group System
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GYPA

Disorders for GYPA Gene

MalaCards: The human disease database

(12) MalaCards diseases for GYPA Gene - From: HGMD, OMIM, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
malaria
  • malaria, severe
pyridoxine-responsive sideroblastic anemia
fetal erythroblastosis
  • ef - erythroblastosis foetalis
hereditary spherocytosis
  • congenital spherocytic hemolytic anemia
pneumocystosis
  • pneumocystis carinii pneumonia
- elite association - COSMIC cancer census association via MalaCards
Search GYPA in MalaCards View complete list of genes associated with diseases

Relevant External Links for GYPA

Genetic Association Database (GAD)
GYPA
Human Genome Epidemiology (HuGE) Navigator
GYPA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GYPA
genes like me logo Genes that share disorders with GYPA: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GYPA Gene

Publications for GYPA Gene

  1. Interaction of anion exchanger 1 and glycophorin A in human erythroleukaemic K562 cells. (PMID: 19438409) Pang AJ … Reithmeier RA (The Biochemical journal 2009) 3 4 22 60
  2. Distinct regions of human glycophorin A enhance human red cell anion exchanger (band 3; AE1) transport function and surface trafficking. (PMID: 12813056) Young MT … Tanner MJ (The Journal of biological chemistry 2003) 3 4 22 60
  3. Influence of polymorphism of GSTM1 gene on association between glycophorin a mutant frequency and urinary PAH metabolites in incineration workers. (PMID: 11936216) Lee KH … Kang D (Journal of toxicology and environmental health. Part A 2002) 3 22 45 60
  4. A transmembrane helix dimer: structure and implications. (PMID: 9082985) MacKenzie KR … Engelman DM (Science (New York, N.Y.) 1997) 3 4 22 60
  5. Characterization of glycophorin A transcripts: control by the common erythroid-specific promoter and alternative usage of different polyadenylation signals. (PMID: 7798177) Kudo S … Fukuda M (Journal of biochemistry 1994) 3 4 22 60

Products for GYPA Gene

  • Addgene plasmids for GYPA

Sources for GYPA Gene

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