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

    Gene ID: 2993, updated on 2-Nov-2024

    Summary

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    Official Symbol
    GYPAprovided by HGNC
    Official Full Name
    glycophorin A (MNS blood group)provided by HGNC
    Primary source
    HGNC:HGNC:4702
    See related
    Ensembl:ENSG00000170180 MIM:617922; AllianceGenome:HGNC:4702
    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]
    Expression
    Restricted expression toward bone marrow (RPKM 31.9) See more
    Orthologs
    all
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    Genomic context

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    See GYPA in Genome Data Viewer
    Location:
    4q31.21
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (144109303..144140718, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (147426704..147458090, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (145030456..145061871, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900790 Neighboring gene glycophorin B (MNS blood group) Neighboring gene uncharacterized LOC105377460 Neighboring gene uncharacterized LOC105377462 Neighboring gene NANOG hESC enhancer GRCh37_chr4:145209206-145209729 Neighboring gene VISTA enhancer hs906 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:145312958-145313150 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21955 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21956 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21957 Neighboring gene keratin 18 pseudogene 51

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Glycosylation sites identified by solid-phase Edman degradation: O-linked glycosylation motifs on human glycophorin A. Pisano A, et al. Glycobiology, 1993 Oct. PMID 8286855
    2. The expression of glycophorin A and osteoprotegerin is locally increased in carotid atherosclerotic lesions of symptomatic compared to asymptomatic patients. Hakimi M, et al. Int J Mol Med, 2013 Aug. PMID 23722820
    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. ABH blood group antigens in N-glycan of human glycophorin A. Fredriksson SA, et al. Arch Biochem Biophys, 2010 Jun 15. PMID 20434428

    See all (116) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Aberrant GPA expression and regulatory function of red blood cells in sickle cell disease.
      Title: Aberrant GPA expression and regulatory function of red blood cells in sickle cell disease.
    2. Fatal haemolytic transfusion reaction due to anti-En[a] and identification of a novel GYPA c.295delG variant in a Thai family.
      Title: Fatal haemolytic transfusion reaction due to anti-En(a) and identification of a novel GYPA c.295delG variant in a Thai family.
    3. Characterization of alternatively spliced transcript variants of glycophorin A and glycophorin B genes in Chinese blood donors.
      Title: Characterization of alternatively spliced transcript variants of glycophorin A and glycophorin B genes in Chinese blood donors.
    4. Diagnostic value of glycophorin-A in comparison with P57 immunohistochemical staining method in differentiating complete and partial molar pregnancies.
      Title: Diagnostic value of glycophorin-A in comparison with P57 immunohistochemical staining method in differentiating complete and partial molar pregnancies.
    5. A new antigen SUMI carried on glycophorin A encoded by the GYPA*M with c.91A>C (p.Thr31Pro) belongs to the MNS blood group system.
      Title: A new antigen SUMI carried on glycophorin A encoded by the GYPA*M with c.91A>C (p.Thr31Pro) belongs to the MNS blood group system.
    6. Novel hybrid genes and a splice site mutation encoding the St(a) antigen among Japanese blood donors.
      Title: Novel hybrid genes and a splice site mutation encoding the St(a) antigen among Japanese blood donors.
    7. Structural variation of the malaria-associated human glycophorin A-B-E region.
      Title: Structural variation of the malaria-associated human glycophorin A-B-E region.
    8. Characterization of GYP*Mur and novel GYP*Bun-like hybrids in Thai blood donors reveals a qualitatively altered s antigen.
      Title: Characterization of GYP*Mur and novel GYP*Bun-like hybrids in Thai blood donors reveals a qualitatively altered s antigen.
    9. These results are consistent with malaria acting as a selective pressure on GYPA, but also suggest that another selective force has resulted in a similar pattern of variation in Europeans. Accordingly, GYPA has perhaps a more complex evolutionary history, wherein on a global scale, spatially varying selective pressures have governed its natural history.
      Title: Complex signatures of natural selection at GYPA.
    10. Cell viability and surface expression of transferrin receptor (CD71) and glycophorin A (GPA) were analyzed before and after re-culture by flow cytometry. These studies show differential sensitivities of these surface proteins on K562 cells to proteases, and suggest molecular mechanisms of transmembrane protein transport and cycling.
      Title: Protease sensitivity and redistribution of CD71 and glycophorin A on K562 cells.
    Submit: New GeneRIF Correction See all GeneRIFs (46)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    BLOOD GROUP, MN
    MedGen: C0026327 OMIM: 111300 GeneReviews: Not available
    		not available
    Malaria, susceptibility to
    MedGen: C1970028 OMIM: 611162 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.
    EBI GWAS Catalog
    Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.
    EBI GWAS Catalog
    IREB2 and GALC are Associated with Pulmonary Artery Enlargement in Chronic Obstructive Pulmonary Disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Recombinant HIV-1 Env (gp120) downregulates GYPA expression in CD34+ hematopoietic progenitor cells PubMed
    Nef nef Both HIV-1 Nef and Vpu downregulate the cell surface expression of glycophorin A (GYPA, CD235a) PubMed
    Tat tat HIV-1 Tat suppresses butyric acid (BA)-induced erythroid differentiation in K562 cells by decreasing glycophorin-A expression PubMed
    Vpu vpu Both HIV-1 Nef and Vpu downregulate the cell surface expression of glycophorin A (GYPA, CD235a) PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables virus receptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in symbiont entry into host cell IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of ankyrin-1 complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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

    NCBI Reference Sequences (RefSeq)

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    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..36438
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_793

    mRNA and Protein(s)

    1. NM_001308187.2 → NP_001295116.1  glycophorin-A isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
      Source sequence(s)
      AA334250, AC107223, AI123404, BG497403, BX649043, DA539682, X57023
      Consensus CDS
      CCDS77965.1
      UniProtKB/TrEMBL
      E9PD10, Q14419
      Related
      ENSP00000426130.1, ENST00000512064.5
      Conserved Domains (1) summary
      pfam01102
      Location:39 → 133
      Glycophorin_A; Glycophorin A

    2. NM_001308190.2 → NP_001295119.1  glycophorin-A isoform 3 precursor

      See identical proteins and their annotated locations for NP_001295119.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. It encodes isoform 3, which is shorter than isoform 1.
      Source sequence(s)
      AC107223, AI123404, BG497403, BX649043, DA539682, EU338234
      Consensus CDS
      CCDS82959.1
      UniProtKB/TrEMBL
      Q8WWP1
      Related
      ENSP00000324483.10, ENST00000324022.14
      Conserved Domains (1) summary
      pfam01102
      Location:13 → 113
      Glycophorin_A; Glycophorin A

    3. NM_002099.8 → NP_002090.4  glycophorin-A isoform 1 precursor

      See identical proteins and their annotated locations for NP_002090.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC107223, AI123404, AK290561, X08054
      Consensus CDS
      CCDS34069.1
      UniProtKB/Swiss-Prot
      A8K3E6, B8Q182, B8Q185, P02724, Q9BS51
      UniProtKB/TrEMBL
      A0A0C4DFT7, Q14440, X5M4Z9
      Related
      ENSP00000493142.2, ENST00000641688.3
      Conserved Domains (1) summary
      pfam01102
      Location:39 → 146
      Glycophorin_A; Glycophorin A

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      144109303..144140718 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047450151.1 → XP_047306107.1  glycophorin-A isoform X4

    2. XM_017008136.2 → XP_016863625.1  glycophorin-A isoform X3

      UniProtKB/TrEMBL
      K9JI14
      Related
      ENSP00000494322.1, ENST00000642738.1

    3. XM_017008134.3 → XP_016863623.1  glycophorin-A isoform X1

      UniProtKB/TrEMBL
      A0A2R8Y7F9, K9JHF2
      Related
      ENSP00000496079.1, ENST00000642295.1

    4. XM_017008135.3 → XP_016863624.1  glycophorin-A isoform X2

      UniProtKB/TrEMBL
      Q8WWP2
      Related
      ENSP00000495922.1, ENST00000646447.1
      Conserved Domains (1) summary
      pfam01102
      Location:13 → 120
      Glycophorin_A; Glycophorin A

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      147426704..147458090 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349851.1 → XP_054205826.1  glycophorin-A isoform X4

    2. XM_054349850.1 → XP_054205825.1  glycophorin-A isoform X3

    3. XM_054349848.1 → XP_054205823.1  glycophorin-A isoform X1

    4. XM_054349849.1 → XP_054205824.1  glycophorin-A isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P02724.2 GenPept UniProtKB/Swiss-Prot:P02724

    Gene LinkOut

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

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