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

Gene ID: 2993, updated on 28-Oct-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

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