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

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; 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

Location:: 4q31.21

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (144109303..144140718, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (147426704..147458090, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (145030456..145061871, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed
Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2. EBI GWAS Catalog EBI GWAS CatalogPubMed
IREB2 and GALC are Associated with Pulmonary Artery Enlargement in Chronic Obstructive Pulmonary Disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

GDB:409935 (e-PCR)
- UniSTS:157192

SHGC-12331 (e-PCR)
- UniSTS:80489

SHGC-79398 (e-PCR)
- UniSTS:103289

RH99179 (e-PCR)
- UniSTS:88776

SHGC-67829 (e-PCR)
- UniSTS:16100

SHGC-67855 (e-PCR)
- UniSTS:40937

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

NG_007470.3 RefSeqGene

Range

5001..36438

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_793

mRNA and Protein(s)

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
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
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