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

    Gene ID: 2993, updated on 24-Sep-2018

    Summary

    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; 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]
    Expression
    Restricted expression toward bone marrow (RPKM 31.9) See more
    Orthologs

    Genomic context

    See GYPA in Genome Data Viewer
    Location:
    4q31.21
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (144109303..144140854, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (145030456..145061904, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene glycophorin B (MNS blood group) Neighboring gene uncharacterized LOC105377460 Neighboring gene uncharacterized LOC107986317 Neighboring gene uncharacterized LOC105377461 Neighboring gene uncharacterized LOC105377462 Neighboring gene VISTA enhancer hs906

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    BLOOD GROUP, MN
    MedGen: CN895595 OMIM: 111300 GeneReviews: Not available
    not available
    Susceptibility to malaria
    MedGen: C1970028 OMIM: 611162 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

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

    HIV-1 interactions

    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

    Pathways from BioSystems

    • Cell surface interactions at the vascular wall, organism-specific biosystem (from REACTOME)
      Cell surface interactions at the vascular wall, organism-specific biosystemLeukocyte extravasation is a rigorously controlled process that guides white cell movement from the vascular lumen to sites of tissue inflammation. The powerful adhesive interactions that are require...
    • Hematopoietic Stem Cell Differentiation, organism-specific biosystem (from WikiPathways)
      Hematopoietic Stem Cell Differentiation, organism-specific biosystemGrowth factors and miRNA regulating differentiation of hematopoietic stem cells (HSC) to various blood-related cell types. Note that myeloblasts branch off separately from erythrocytes and megakaryoc...
    • 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...
    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
    • 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...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    virus receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    leukocyte migration TAS
    Traceable Author Statement
    more info
     
    viral entry into host cell IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    glycophorin-A
    Names
    MN sialoglycoprotein
    Mi.V glycoprotein (24 AA)
    erythroid-lineage-specific membrane sialoglycoprotein
    glycophorin A (MN blood group)
    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)

    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)

    mRNA and Protein(s)

    1. NM_001308187.1NP_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, OTTHUMP00000220159, ENST00000512064.5, OTTHUMT00000364789
      Conserved Domains (1) summary
      pfam01102
      Location:39133
      Glycophorin_A; Glycophorin A
    2. NM_001308190.1NP_001295119.1  glycophorin-A isoform 3

      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/Swiss-Prot
      P02724
      Related
      ENSP00000324483.10, OTTHUMP00000220154, ENST00000324022.14, OTTHUMT00000364784
      Conserved Domains (1) summary
      pfam01102
      Location:13113
      Glycophorin_A; Glycophorin A
    3. NM_002099.7NP_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, DA539682, X08054
      Consensus CDS
      CCDS34069.1
      UniProtKB/Swiss-Prot
      P02724
      UniProtKB/TrEMBL
      A0A0C4DFT7
      Related
      ENSP00000493142.2, OTTHUMP00000220153, ENST00000641688.2, OTTHUMT00000364783
      Conserved Domains (1) summary
      pfam01102
      Location:39146
      Glycophorin_A; Glycophorin A

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

      Range
      144109303..144140854 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Related
      ENSP00000494322.1, ENST00000642738.1
    2. XM_017008134.2XP_016863623.1  glycophorin-A isoform X1

      Related
      ENSP00000496079.1, ENST00000642295.1
    3. XM_017008135.2XP_016863624.1  glycophorin-A isoform X2

      UniProtKB/Swiss-Prot
      P02724
      Related
      ENSP00000495922.1, ENST00000646447.1
      Conserved Domains (1) summary
      pfam01102
      Location:13120
      Glycophorin_A; Glycophorin A
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