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    GYPA glycophorin A (MNS blood group) [ Homo sapiens ]

    Gene ID: 2993, updated on 12-May-2012
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    Summary

    Official Symbol
    GYPAprovided by HGNC
    Official Full Name
    glycophorin A (MNS blood group)provided by HGNC
    Primary source
    HGNC:4702
    See related
    Ensembl:ENSG00000170180; HPRD:07508; MIM:111300; Vega:OTTHUMG00000161403
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MN; GPA; MNS; GPSAT; PAS-2; CD235a; GPErik; HGpMiV; HGpMiXI; HGpSta(C)
    Summary
    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]
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    Genomic context

    Location :
    4q31.21
    Sequence :
    Chromosome: 4; NC_000004.11 (145030456..145061904, complement)
    See GYPA in Epigenomics, MapViewer

    Chromosome 4 - NC_000004.11Genomic Context describing neighboring genes Neighboring gene salvador homolog 1 (Drosophila) pseudogene Neighboring gene glycophorin B (MNS blood group) Neighboring gene keratin 18 pseudogene 51 Neighboring gene uncharacterized LOC646576 Neighboring gene hedgehog interacting protein

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Interactions of mouse glycophorin A with the dRTA-related mutant G719D of the mouse Cl-/HCO3- exchanger Ae1. Stewart AK, et al. Biochem Cell Biol, 2011 Apr. PMID 21455273.
    2. Chromosome 4q31 locus in COPD is also associated with lung cancer. Young RP, et al. Eur Respir J, 2010 Dec. PMID 21119205.
    3. Beta-branched residues adjacent to GG4 motifs promote the efficient association of glycophorin A transmembrane helices. Cunningham F, et al. Biopolymers, 2011. PMID 21072853.
    4. The membrane environment modulates self-association of the human GpA TM domain--implications for membrane protein folding and transmembrane signaling. Anbazhagan V, et al. Biochim Biophys Acta, 2010 Oct. PMID 20603102.
    5. Robust, high-throughput solution for blood group genotyping. Le Goff GC, et al. Anal Chem, 2010 Jul 15. PMID 20560530.

    See all (75) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Beta-branched residues adjacent to GG4 motifs promote the efficient association of glycophorin A transmembrane helices.
      Title: Beta-branched residues adjacent to GG4 motifs promote the efficient association of glycophorin A transmembrane helices.
    2. Data suggest that glycophorin A (Gpa) increases expression and activity of Cl-/HCO3- exchanger Ae1, that G719D mutation renders Ae1 mutant constructs GPA-unresponsive, and suggests a role for Ae1 amino acids 22-28 in GPA responsiveness.
      Title: Interactions of mouse glycophorin A with the dRTA-related mutant G719D of the mouse Cl-/HCO3- exchanger Ae1.
    3. the GG genotype of the rs 1489759 HHIP single-nucleotide polymorphism (SNP) and the CC genotype of the rs 2202507 GYPA SNP confers a ''protective'' effect on COPD (OR 0.59, p50.006 for HHIP and OR50.65, p50.006 for GYPA) and lung cancer.
      Title: Chromosome 4q31 locus in COPD is also associated with lung cancer.
    4. Data indicate that changes of the glycophorin A dimerization propensities in different lipid bilayers suggest that the lipid bilayer thickness severely influences the monomer-dimer equilibrium of the transmembrane domain.
      Title: The membrane environment modulates self-association of the human GpA TM domain--implications for membrane protein folding and transmembrane signaling.
    5. ABH blood group antigens in N-glycan of human glycophorin A.
      Title: ABH blood group antigens in N-glycan of human glycophorin A.
    6. The Sta gene found in this family has A246 & C252, C302, and G307. The putative crossing-over point is between nucleotides 252 to 302 in Intron 3.
      Title: A new isoform of Sta gene found in a family with NOR polyagglutination.
    7. Energy transfer between differently labelled glycophorin A transmembrane helices decreased with increasing Sodium Dodecyl Sulfate mole fractions albeit without modifying the helicity of the peptides.
      Title: Unfolding a transmembrane helix dimer: A FRET study in mixed micelles.
    8. Heterozygous missense mutation E758K in the human AE1/SLC4A1/band 3 gene in two unrelated patients with well-compensated hereditary spherostomatocytic anemia induces glycophorin A-independent, endogenous cation transport.
      Title: The GPA-dependent, spherostomatocytosis mutant AE1 E758K induces GPA-independent, endogenous cation transport in amphibian oocytes.
    9. AE1 and GPA form a complex in the endoplasmic reticulum of human K562 cells.
      Title: Interaction of anion exchanger 1 and glycophorin A in human erythroleukaemic K562 cells.
    10. GPA depletion does not alter band 3's native conformation at the DIDS binding site. It modulates a conformational equilibrium between 2 states of the binary complex formed by the competitive inhibitor DIDS, reversibly bound to properly folded band 3.
      Title: Kinetic evidence for modulation by glycophorin A of a conformational equilibrium between two states of band 3 (SLC4A1) bound reversibly by the competitive inhibitor DIDS.
    Submit: New GeneRIF Correction See all (24)
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    Blood group, MN

    Malaria, resistance to

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    HIV-1 protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat suppresses butyric acid (BA)-induced erythroid differentiation in K562 cells by decreasing glycophorin-A expression PubMed

    Go to the HIV-1, Human Protein Interaction Database

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P02724 P02724 GYPA    HPRD  PubMed  
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    General gene information

    Markers

    Genotypes

    Pathways from BioSystems

    • Hematopoietic cell lineage, organism-specific biosystem (from KEGG)
      Hematopoietic cell lineage, organism-specific biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
    • Hematopoietic cell lineage, conserved biosystem (from KEGG)
      Hematopoietic cell lineage, conserved biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
    • Malaria, organism-specific biosystem (from KEGG)
      Malaria, organism-specific biosystemPlasmodium protozoa are parasites that account for malaria infection. Sporozoite forms of the parasite are injected by mosquito bites under the skin and are carried to the liver where they develop in...
    • Malaria, conserved biosystem (from KEGG)
      Malaria, conserved biosystemPlasmodium protozoa are parasites that account for malaria infection. Sporozoite forms of the parasite are injected by mosquito bites under the skin and are carried to the liver where they develop in...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    molecular_function ND
    No biological Data available
    more info
    		  
    protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    receptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    biological_process ND
    No biological Data available
    more info
    		  
    cytoskeletal anchoring at plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    interspecies interaction between organisms IEA
    Inferred from Electronic Annotation
    more info
    		  
    regulation of response to osmotic stress IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    cellular_component ND
    No biological Data available
    more info
    		  
    external side of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    integral to plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    membrane fraction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    glycophorin-A
    Names
    glycophorin-A
    glycophorin MiI
    glycophorin MiV
    glycophorin SAT
    glycophorin Erik
    glycophorin A, GPA
    MN sialoglycoprotein
    glycophorin Sta type C
    sialoglycoprotein alpha
    Mi.V glycoprotein (24 AA)
    glycophorin A (MN blood group)
    recombinant glycophorin A-B Miltenberger-DR
    erythroid-lineage-specific membrane sialoglycoprotein
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007470.3 RefSeqGene

      Range
      5001..36439
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002099.6 → NP_002090.4  glycophorin-A precursor

      Status: REVIEWED

      Source sequence(s)
      AC107223, AK290561, X08054
      Consensus CDS
      CCDS34069.1
      UniProtKB/Swiss-Prot
      P02724
      Related
      ENSP00000354003, OTTHUMP00000220153, ENST00000360771, OTTHUMT00000364783
      Conserved Domains (1) summary
      pfam01102
      Location:45 – 147
      Blast Score: 345
      Glycophorin_A; Glycophorin A

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000004.11 Reference GRCh37.p5 Primary Assembly

      Range
      145030456..145061904, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000136.1 Alternate HuRef

      Range
      140759973..140791405, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC107223.5 (7741..39129) None
    genomic AF325923.1 AAG59990.1
    genomic AJ309704.1 CAC83868.1
    genomic AJ309705.1 CAC83869.1
    genomic AJ309706.1 CAC83870.1
    genomic AJ309707.1 CAC83871.1
    genomic AJ309828.1 CAC82326.1
    genomic AJ309829.1 CAC82327.1
    genomic AJ309830.1 CAC82328.1
    genomic AJ309831.1 CAC82329.1
    genomic AJ309832.1 CAC82330.1
    genomic AJ309833.1 CAC82331.1
    genomic AJ309834.1 CAC82332.1
    genomic AJ309835.1 CAC83934.1
    genomic AJ309836.1 CAC83935.1
    genomic AJ309837.1 CAC83936.1
    genomic AJ309838.1 CAC83937.1
    genomic AJ309839.1 CAC83938.1
    genomic AJ309840.1 CAC83939.1
    genomic AJ309841.1 CAC83940.1
    genomic AJ309842.1 CAC83941.1
    genomic AJ309843.1 CAC83942.1
    genomic AJ309844.1 CAC83943.1
    genomic AJ309845.1 CAC83944.1
    genomic AJ311318.1 CAC85281.1
    genomic AJ311319.1 CAC85282.1
    genomic AJ311320.1 CAC85268.1
    genomic AJ311321.1 CAC85269.1
    genomic AJ311322.1 CAC85270.1
    genomic AJ311323.1 CAC85271.1
    genomic AJ311324.1 CAC85272.1
    genomic AJ311325.1 CAC85273.1
    genomic AJ311326.1 CAC85274.1
    genomic AJ311327.1 CAC85275.1
    genomic AJ311328.1 CAC85276.1
    genomic AJ311329.1 CAC85277.1
    genomic AJ311330.1 CAC85278.1
    genomic AJ311331.1 CAC85279.1
    genomic AJ311332.1 CAC85280.1
    genomic AY297541.1 AAR05989.1
    genomic AY297542.1 AAR05990.1
    genomic AY297543.1 AAR05991.1
    genomic AY297544.1 AAR05992.1
    genomic AY297545.1 AAR05993.1
    genomic AY297546.1 AAR05994.1
    genomic AY297547.1 AAR05995.1
    genomic AY297548.1 AAR05996.1
    genomic AY297549.1 AAR05997.1
    genomic AY297550.1 AAR05998.1
    genomic AY950613.1 AAX53134.1
    genomic AY950615.1 AAX53136.1
    genomic CH471056.2 EAX05061.1
      EAX05062.1
    genomic M24128.1 AAA52768.1
    genomic M60707.1 AAC34718.1
    genomic M81826.1 AAC27543.1
    genomic M87884.1 AAA58616.1
    genomic X15823.1 CAA33821.1
    mRNA AK290561.1 BAF83250.1
    mRNA AY950614.1 AAX53135.1
    mRNA BC005319.1 AAH05319.1
    mRNA BC013328.1 AAH13328.1
    mRNA BX649043.1 None
    mRNA DA537533.1 None
    mRNA EU338231.1 ACA96789.1
    mRNA EU338232.1 ACA96790.1
    mRNA EU338233.1 ACA96791.1
    mRNA EU338234.1 ACA96792.1
    mRNA L07251.1 AAC46257.1
    mRNA L07253.1 AAC46258.1
    mRNA L31860.1 AAA88051.1
    mRNA M12857.1 AAA88044.1
    mRNA M36281.1 AAA52624.1
    mRNA S77077.1 AAB34407.1
    mRNA S77082.1 AAB34408.1
    mRNA U00177.1 AAC50057.1
    mRNA U00178.1 AAC50058.1
    mRNA U00179.1 AAA18258.1
    mRNA X08054.1 CAA30843.1
    mRNA X51798.1 CAA36095.1
    mRNA X57023.1 CAA40340.1
    other-genetic DQ893046.2 ABM83972.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P02724.2 GenPept UniProtKB/Swiss-Prot:P02724
    Q03867 GenPept UniProtKB/TrEMBL:Q03867
    Q03870 GenPept UniProtKB/TrEMBL:Q03870
    Q13030 GenPept UniProtKB/TrEMBL:Q13030
    Q14419 GenPept UniProtKB/TrEMBL:Q14419
    Q14420 GenPept UniProtKB/TrEMBL:Q14420
    Q14421 GenPept UniProtKB/TrEMBL:Q14421
    Q14423 GenPept UniProtKB/TrEMBL:Q14423
    Q14438 GenPept UniProtKB/TrEMBL:Q14438
    Q14440 GenPept UniProtKB/TrEMBL:Q14440
    Q14446 GenPept UniProtKB/TrEMBL:Q14446
    Q14447 GenPept UniProtKB/TrEMBL:Q14447
    Q16308 GenPept UniProtKB/TrEMBL:Q16308
    Q16336 GenPept UniProtKB/TrEMBL:Q16336
    Q58HE5 GenPept UniProtKB/TrEMBL:Q58HE5
    Q58HE6 GenPept UniProtKB/TrEMBL:Q58HE6
    Q58HE7 GenPept UniProtKB/TrEMBL:Q58HE7
    Q6WBG7 GenPept UniProtKB/TrEMBL:Q6WBG7
    Q7KZ29 GenPept UniProtKB/TrEMBL:Q7KZ29
    Q8WTS2 GenPept UniProtKB/TrEMBL:Q8WTS2
    Q8WWP1 GenPept UniProtKB/TrEMBL:Q8WWP1
    Q8WWP2 GenPept UniProtKB/TrEMBL:Q8WWP2
    Q8WWP3 GenPept UniProtKB/TrEMBL:Q8WWP3
    Q8WWP4 GenPept UniProtKB/TrEMBL:Q8WWP4
    Q9BZD9 GenPept UniProtKB/TrEMBL:Q9BZD9
    Q9UE44 GenPept UniProtKB/TrEMBL:Q9UE44
    Q9UM93 GenPept UniProtKB/TrEMBL:Q9UM93
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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