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

Gene ID: 2993, updated on 12-Jan-2019

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
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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
BLOOD GROUP, MN
MedGen: C0026327 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

Homology

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, ENST00000512064.5
    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, ENST00000324022.14
    Conserved Domains (1) summary
    pfam01102
    Location:13113
    Glycophorin_A; Glycophorin A
  3. NM_002099.8NP_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
    P02724
    UniProtKB/TrEMBL
    A0A0C4DFT7
    Related
    ENSP00000493142.2, ENST00000641688.2
    Conserved Domains (1) summary
    pfam01102
    Location:39146
    Glycophorin_A; Glycophorin A

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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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